Prenatal Testing for Down Syndrome: Comparison of Screening Practices in the UK and USA
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- Tapon, D. J Genet Counsel (2010) 19: 112. doi:10.1007/s10897-009-9269-1
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Prenatal testing for Down Syndrome is a topic covered in every genetic counselor’s training as it constitutes the main workload of genetic counselors in prenatal settings. Most Western countries nowadays offer some type of testing for Down Syndrome. However, practices vary according to country with regards to what tests are offered, insurance coverage and the legal situation concerning the option of terminating an affected pregnancy. In view of the growing interest in international genetic counseling issues, this article aims to compare prenatal testing practices in two English-speaking countries: the United Kingdom and the United States of America. A case will be presented to highlight some of the differences in practice. The topic underlines important implications for genetic counseling practice, such as patients’ understanding of testing practices, risk perception, counseling provision and impact of prenatal testing results.
KeywordsDown SyndromeTrisomy 21Prenatal testingScreening practicesGenetic counseling
Down Syndrome is the most common genetic cause of learning disability with a frequency of about 1 in 700 births. It is caused by an extra copy of chromosome 21. A correlation with increased age of the mother is well documented (Penrose 1933; Cuckle et al. 1987). As a result of this high prevalence, testing for Down Syndrome constitutes the major work load of genetic counselors in prenatal settings and is therefore an important part of every genetic counseling student’s training.
Prenatal testing for Down Syndrome can have several aims. One aim is preparation, a) to plan management of the pregnancy and delivery, and b) psychologically for the arrival of a child with special needs. The latter could include for example arranging special child care, making career decisions or getting more information about the condition before the baby arrives. A second aim could be to plan adoption for the baby. The third goal of prenatal testing is to enable parents to make a decision about whether to continue the pregnancy.
Screening and diagnostic tests for Down Syndrome have been available for several decades and continuous research has led to the development of new testing modalities. Different countries adopt testing practices conforming to national committees reviewing available evidence and national screening statistics. Guidelines for best practice therefore evolve differently in different healthcare systems. Testing practices vary between countries with respect to what tests are offered, insurance coverage, pre-test counseling and the legal situation for terminating affected pregnancies.
More and more genetic counselors work in countries other than their country of origin (or training) and might therefore be exposed to testing practices that differ from those the genetic counselor is familiar with. In addition, patients are becoming more knowledgeable about testing, either through the internet or by temporarily living abroad, and might request tests they have heard or read about. Knowledge of testing practices not only locally but on a more global level can therefore help genetic counselors to be better prepared and better respond to such requests. A careful analysis of the relative merits/failings of each system may also aid those involved in developing testing pathways and guidelines.
This article compares several aspects of testing for Down Syndrome in two countries: the situation in the United Kingdom (UK) will be compared to practices in the United States of America (USA). A case of an American patient who had testing in the UK and was seen by a genetic counselor who had worked in both countries will be presented to highlight some of the differences.
Prenatal Testing for Down Syndrome
Two types of testing modalities for Down Syndrome are available: screening and diagnostic tests. Screening tests identify fetuses at high risk for this disorder using certain ultrasound and/or serum biochemical markers with varying false positive and false negative rates. Diagnostic testing leads to generally reliable positive identification of affected fetuses but can currently only be achieved by invasive testing, such as chorionic villus sampling (CVS) or amniocentesis. For CVS, generally carried out between weeks 11 to 14 of gestation, tissue from the placenta is removed for testing. Amniocentesis is performed after 15 weeks; amniotic fluid is aspirated and fetal cells recovered for chromosome analysis. Both diagnostic tests carry an increased risk of miscarriage, usually quoted as approximately 1–2% (Tabor et al. 1986; Jackson et al. 1992).
Screening for Down Syndrome to determine those at high risk was historically only carried out by recording the mother’s age and offering diagnostic testing to a certain group, i.e. those over age 35. However, such testing detects only 30–50% of fetuses with Down Syndrome (depending on the cut-off age for offering diagnostic testing) and will lead to the loss of many healthy fetuses through invasive testing (Cuckle et al. 1987). Biochemical screening started in the 1980s with the discovery that alpha-fetoprotein (AFP) levels in maternal blood showed different patterns in normal pregnancies versus those affected with chromosomal abnormalities (Merkatz et al. 1984; Cuckle et al. 1984). AFP was already known to be a marker elevated in pregnancies affected by neural tube defects (Cowchock and Jackson 1976) and as such was widely used until diagnosis of neural tube defects by ultrasound scanning became more accurate (Norem et al. 2005). Further research into Down Syndrome screening added serum human chorionic gonadotrophin (hCG) (Bogart et al. 1987), followed by unconjugated estriol (UE3) (Wald et al. 1988). All three hormones were traditionally measured in the second trimester.
In the early 1990s, a search for tests that could be carried out earlier in gestation led Professor Kypros Nicolaides to the discovery that fetal nuchal translucency (NT) thickness, which can be measured by ultrasound scanning in the first trimester (10–13 weeks of gestation), allowed the identification of Down Syndrome pregnancies: initial studies in high risk patients (i.e. of advanced maternal age, or with previous chromosomal abnormality) estimated a high detection rate (DR—proportion of affected pregnancies that are screen positive) of over 80% at a 5% false-positive rate (FPR—proportion of unaffected pregnancies that are screen positive) (Nicolaides et al. 1994).
Comparison of Screening Tests
Detection Rate (DR) (%) at 5% FPRb
False positive Rate (FPR) (%) at 85% DRb
1st trimester (taken at 11 weeks)
2nd trimester (taken at 14–20 weeks)
Test (with maternal age):
Other screening approaches have recently been suggested to improve screening performance: In stepwise sequential screening, women with a positive first trimester screening result are directly offered CVS, with the remainder continuing to second trimester serum screening that is combined with the first result to identify further high risk women to improve detection rates (Benn et al. 2007). In contingency screening, second trimester testing is contingent on first trimester results: women with a high risk first trimester result are offered diagnostic testing, those with a very low risk are reassured, while only those with an intermediate result continue to have second trimester serum testing. This approach is estimated to allow the majority of women to complete screening in the first trimester (Wright et al. 2004).
Several ultrasound markers are currently studied for their usefulness in improving first trimester screening performance. These include measurement of the fetal nasal bone (Cicero et al. 2001) and increased resistance in the ductus venosus (Borrell et al. 2005). However, the usefulness of these markers for screening on a population level is still being investigated (Malone et al. 2004; Senat et al. 2003).
Prenatal testing for Down Syndrome is currently available in many countries, however testing practices differ considerably (for a comparison of European countries see Boyd et al. 2008). Testing in the United Kingdom and the USA will be compared in some detail in the following paragraphs.
Testing Practices in the United Kingdom (UK)
For most of the 1990s, Down Syndrome testing offered to pregnant women in the UK depended on hospital policy and stakeholder funding and was subject to local variation (Wald et al. 1999. A large survey initiated by the National Screening Committee (NSC) in 2001 found large discrepancies in the nature of tests, if any, being offered to patients (National Screening Committee 2002). The Department of Health issued guidelines in 2001 stating that all women should be offered screening regardless of age (DOH Chief Executive Bulletin No. 84 2001).
A Health Technology Assessment (HTA) review of screening for Down Syndrome was published in 2003: the Serum, Urine and Ultrasound Screening study (SURUSS) (Wald et al. 2003). This prospective study of over 47,000 pregnancies was the first to compare different screening tests and determine their efficacy, safety and cost-effectiveness. The study was conducted in 25 maternity hospitals across the UK. SURUSS concluded that the Integrated test had the best detection and false positive rates while providing the best cost-effectiveness, followed by serum integrated, combined and quadruple testing.
Based on this report, the National Screening Committee published a model of best practice on screening for Down Syndrome in November 2003, recommending that by 2004/05 women be offered a screening test with at least a 60% detection rate (DR) at a 5% false positive rate (FPR—proportion of unaffected pregnancies that are screen positive) (Model of Best Practice 2003). The best practice model also called for a continuing improvement in screening, aiming for a detection rate of greater than 75% at a false positive rate of less than 3% by 2007. These guidelines were supported by the Genetics White Paper (2003), National Institute of Clinical Excellence guidance (NICE guidance 2003) and the Maternity Services’ National Service Framework (National Service Framework for Children Young People and Maternity Services 2003).
Currently, the type of screening test offered is still subject to regional variation (see http://fetalanomaly.screening.nhs.uk/localscreening for a comparison map). Not every unit is, for example, able to offer Nuchal Translucency scanning due to a shortage of correctly trained ultrasound sonographers or ultrasound machines. However, Health Trusts (public hospitals) are actively aiming to implement screening tests that comply with the detection and false positive rates recommended by the National Screening Committee guidelines.
Since May 2007, invasive testing is generally only offered to those found to be in the high risk group after screening. Amniocentesis by maternal request (i.e. after low risk result or without prior screening) is no longer funded by the National Health Service (NHS—the government organization responsible for public healthcare provision for the majority of the British public) in line with the philosophy that age alone must not be used as a screening test and that all women receive uniform care regardless of age. Women who are not in the high risk group but request diagnostic testing generally have to pay for this through private funding.
In 2008, the National Screening Committee published policy recommendations for 2007–2010 (Fetal Anomaly Screening Programme Policy 2008). The updated model recommends screening tests with a 90% detection rate and a 2% false positive rate by 2010. This is to be achieved using the same NT and biochemistry markers as at present, but by applying new methodologies like Repeated Measures (repeatedly measuring serum markers in the first and second trimester) and Cross Trimester testing strategies (where ratios of serum marker levels measured in the first and second trimester are added as screening parameters) (Wald et al. 2006; Wright and Bradbury 2005). In order to achieve the new standards, cut-offs for offering invasive testing are changed nationally from 1 in 250 to 1 in 150 for first trimester screening and to 1 in 200 for second trimester screening.
Audit and monitoring for quality assurance are pivotal parts of the UK’s national screening program in order to continually improve the quality of the screening. The national screening committee recommends that all screening strategies are subject to external quality assessment. This is provided free of charge through a service funded by the Program Centre, the Down Syndrome Screening Quality Assurance Support Service (DQASS).
Testing Practices in the United States of America (USA)
No national screening program exists in the USA. Until recently, whether women below 35 years were offered screening, mostly consisting of second trimester screening, depended on their hospital and what state they lived in (Egan et al. 2002). Women of 35 years and above were considered high-risk and referred for diagnostic testing without prior screening. In 2007, the American College of Obstetricians and Gynecologists (ACOG) published guidelines recommending screening for all women regardless of age (ACOG Practice Bulletin No. 77, 2007a). This was based in part on results of the FASTER (First and Second Trimester Evaluation of Risk) trial, a US study similar to SURUSS that compared different screening tests (Malone et al. 2005). The prospective FASTER study included over 38,000 pregnant women in 15 centres in the United States. Like SURUSS, it concluded that a combination of first and second trimester screening, such as by (serum) integrated or stepwise sequential testing is the best screening approach, followed by combined testing. Further analysis of the data suggested that contingent screening is the most cost-effective test (Ball et al. 2007).
The database produced by this large trial allowed further research: In a separate publication, the FASTER consortium published that, in the USA, fetal loss rates after midtrimester amniocentesis seemed considerably lower than previously assumed (Eddleman et al. 2006). The study found a miscarriage rate of 0.06% (1 in 1600) after invasive testing, with no significant increase in the group of women who had amniocentesis versus the control group.
The American College of Obstetricians and Gynecologists guidelines suggest that women should not be told they are ‘high risk’ or ‘low risk’ after screening, but be given their individual risk assessment so they can decide for themselves if their results justify invasive testing. In contrast to guidelines in the United Kingdom, the American College of Obstetricians and Gynecologists and the American College of Medical Genetics state that all women should have the option of diagnostic testing (ACOG Practice Bulletin No. 88, 2007b; Driscoll et al. 2008).
Also in contrast to the United Kingdom, both American College of Obstetricians and Gynecologists and American College of Medical Genetics guidelines recommend that women who had first trimester screening should still have the option of alpha-fetoprotein (AFP) testing for neural tube defect screening in the second trimester. The UK’s National Screening Committee states that AFP should not be offered after first trimester screening because of its low specificity and because the second trimester anomaly ultrasound scan provides diagnostic testing for Neural tube defects (Programme statement on screening for trisomy 18 and 13 and neural tube defects 2007, NICE guideline 2008).
Screening for Down Syndrome in the UK is generally covered by the National Health Service (NHS). National guidelines set by the National Screening Committee ensure a certain standard of tests (see model of best practice above). Occasionally, couples choose private screening which might give an earlier result due to earlier testing or faster turn-around times or which might be more accurate due to more parameters being measured than in tests offered locally on the NHS. They generally pay out of pocket for these tests. Private clinics offer a range of screening and diagnostic testing. Once a woman is identified as high risk by NHS or private screening, she has the option of diagnostic testing on the National Health Service at her local hospital.
Free government funded healthcare in the US is currently generally only available to those on low income (through Medicaid) or those over age 65 (via Medicare). Most people purchase health insurance either by buying into a group insurance plan, provided through their employer, or by buying individual health insurance. There is a wide variety of healthcare plans and they differ widely in cost and coverage. Most American insurance companies pay for some type of Down Syndrome testing, but what testing is covered depends on the insurance. For example, some only pay for prenatal testing in women over age 35. Some insurance companies may require a referral from a primary care provider or health plan. Some plans only pay for diagnostic testing once screening gives a high risk result, while others might cover it without the need for prior screening. Depending on the insurance, a co-pay or deductible may apply.
Pretest counseling should give detailed information about Down Syndrome and explain the voluntary nature of all testing, the difference between screening and diagnostic tests, the testing pathways for screen-positive and screen-negative results and the decisions necessary at each step, the sensitivity (detection rate) and false-positive rates of the available screening test and the benefits and risks associated with invasive diagnostic testing, as well as the possibility that other chromosomal abnormalities might be detected with CVS or amniocentesis (NICE guidance 2008; Kobelka et al. 2009). Options with regards to continuing or ending an affected pregnancy should also be presented. Written information can aid in giving this information, but a discussion with the primary care provider, obstetrician, midwife or similar health professional should follow to answer any questions the patient might have.
In the UK, women are generally counseled about prenatal testing options by their General Practitioner (GP) or midwife. Most National Healthcare Service Trusts employ specialty midwives or screening coordinators to counsel women who have a high risk screening result and this is covered by the NHS. Genetic counselors generally only become involved once a diagnosis of a chromosomal abnormality has been made: A referral will then be made by the attending obstetrician or pediatrician to the regional genetic centre. A genetic counselor then meets with the couple to discuss the options (caring for the baby, termination in case of prenatal diagnosis, adoption) and provide support. The genetic counselor also explains the inheritance of Down Syndrome, recurrence risks and future testing and supports the woman through her next pregnancy as well as arranging any testing required.
In the United States, most of the prenatal counseling for high risk patients is undertaken by genetic counselors. Women of advanced maternal age are generally referred for genetic counseling to discuss testing options and this will be covered by most insurance policies. Some obstetricians counsel their own patients and order screening themselves, referring to genetic counseling in the case of a high risk result. The majority of genetic counselors in the US work in prenatal settings (National Society of Genetic Counselors Professional Status Survey 2006). In addition, like in the UK, genetic counselors might be involved once a positive diagnosis of Down Syndrome has been made, supporting the patient through the necessary steps of decision-making and adjustment.
Legal Considerations for Termination of Pregnancy (TOP)
A European study suggests that almost ninety percent of couples who are given a prenatal diagnosis of Down Syndrome decide to end the pregnancy (Boyd et al. 2008). Similar statistics were reported in previous international studies (Mansfield et al. 1999). However, couples who feel they would continue a pregnancy with Down Syndrome often decline prenatal testing, especially invasive diagnostic tests, as they feel there is no reason to jeopardize the pregnancy (van den Berg et al. 2005a; Kobelka et al. 2009).
The legal situation concerning termination of pregnancy for fetal abnormality differs between countries (Boyd et al. 2008). In England and Wales, termination is regulated by the Abortion Act (1967). Section 1(1)(d) of the Abortion Act permits termination of pregnancy where two medical practitioners acting in good faith agree that:“...there is a substantial risk that if the child were born it would suffer from such physical or mental abnormalities as to be seriously handicapped” (Clause E). The Abortion Act does not define “serious handicap” but most physicians would consider Down Syndrome as such, though considerable variability exists between the most severe cases and milder forms of the disorder. Prenatal diagnosis of Down Syndrome does not enable a prediction of the severity.
For conditions considered less serious, termination can be carried out under Clause C of the Abortion Act (1(a)) if the pregnancy is less than 24 weeks and “...the continuance of the pregnancy would involve risk, greater than if the pregnancy were terminated, of injury to the physical or mental health of the pregnant woman or any existing children of her family” (Human Fertilisation and Embryology Act 1990). The Royal College of Obstetricians and Gynaecologists (RCOG) advises doctors to offer termination for abnormalities where abortion falls within the grounds of the Abortion Act (Royal College of Obstetricians and Gynaecologists 1996).
Abortion for serious abnormalities in the UK is therefore legal at any stage of pregnancy. When second trimester screening was the main screening modality before the introduction of newer first trimester screening tests, prenatal diagnosis of fetal abnormalities usually happened in mid-pregnancy. This is still the case where second trimester ultrasound findings prompt diagnosis of chromosomal abnormalities. The majority of terminations for fetal abnormalities have therefore traditionally been carried out in the second trimester, sometimes after the fetus has reached viability (Government Statistical Service 2005). In the United Kingdom, abortions after 22 weeks for fetal abnormalities are generally carried out in tertiary referral centers by feticide with intracardiac potassium chloride injection followed by induction of labor (Royal College of Obstetricians and Gynaecologists 2001). These procedures are covered by the National Health Service.
In the United States, abortion is theoretically legal since the landmark ruling of Roe vs. Wade in 1973 by the US Supreme Court (Roe vs. Wade 1973; Alan Guttmacher Institute 1997). The right for termination of pregnancy was considered part of a constitutional right to privacy. However, the Supreme Court gave individual states the right to restrict abortion after viability (around 22–25 weeks of gestation). Most states have restrictions on second trimester abortions and outlaw it in the third trimester, although some make exceptions where continuing the pregnancy might pose a risk to the woman’s life or health (Alan Guttmacher Institute 2008a). The definition of “health” varies by state and might include physical or mental health.
Fetal abnormality is not specifically addressed by the Court’s ruling and is assumed to be included in the provisions for the physical and mental health of the pregnant woman. The American Medical Association (AMA) recommends that serious fetal anomalies incompatible with life should be the only reason to perform abortions in the third trimester, arguing that abortion for the health of the mother is rarely necessary in the third trimester when delivery of the baby is an alternative (American Medical Association policy H-5.982 2008a).
Reality shows that, in general, in the USA access to abortion is very restricted due to a shortage of trained physicians, few hospitals offering abortion and limited insurance coverage. Many states prohibit the use of state funds (for those on Medicaid) and there has been a ban on using federal funds for abortion unless the procedure is necessary to save the woman’s life or the pregnancy is due to rape or incest (Alan Guttmacher Insitute 2008b).
In the USA, late-term abortions were often carried out through ‘intact dilatation and extraction’, a procedure called ‘partial birth abortion’ by the anti-abortion community (Gans Epner et al. 1998). A ban on ‘partial birth abortion’ in 2003 by President George W Bush and upheld in 2007 by the US Supreme Court leaves few safe alternatives for third trimester abortion according to the American College of Obstetrics and Gynecology (ACOG 2007c). Some medical professionals also fear that the Unborn Victims of Violence act could lead to a ban on abortion in the US, although the bill exempts abortion with consent of the mother. This act was passed by Congress in 2004 and considers a “child in utero” a legal victim of crime, allowing prosecution of anybody killing such an unborn child (Unborn Victims of Violence act 2004).
In practical terms, access to abortion for fetal anomalies after 22–24 weeks in the US is extremely restricted. Thus, American couples often have to make a decision within a few days after a midtrimester diagnosis of anomalies, leaving no options if the diagnosis is made after 24 weeks.
Future considerations: Prenatal Testing Through Non-Invasive Methods
While screening tests for Down Syndrome are becoming more accurate thanks to new serum or ultrasound markers and different analysis modalities (Nicolaides et al. 2007; Wald et al. 2006), they will likely never reach diagnostic value. However, recent advances in non-invasive diagnostic testing suggest that testing for Down Syndrome might look very different 10 years from now (Wright and Burton 2009). Many groups are investigating the possibility of accessing fetal DNA from maternal blood through simple phlebotomy. This would obviously be hugely attractive as it would forego the need for invasive testing with the associated risk of miscarriage, and would potentially reduce the costs associated with invasive testing. Another advantage is the possibility raised by some early studies that non-invasive testing could be carried out much earlier in gestation than traditional prenatal testing, giving parents more time to prepare for a baby with Down Syndrome or allowing earlier termination (Illanes et al. 2007).
While initial studies examining fetal cells in maternal blood were not very successful, more recent research into free fetal DNA shows promise (Bianchi 1999; Lo et al. 1997; Chitty et al. 2008). Determining fetal sex from a maternal blood sample is already used, for example to detect X-linked conditions affecting male fetuses (Finning and Chitty 2008). If the baby is determined to be a girl, no invasive diagnostic testing is needed. This testing methodology already avoids 40–50% of invasive tests in carriers of X-linked conditions. Many scientists in the field of non-invasive prenatal diagnosis believe that similar non-invasive testing could be available for Down Syndrome within the next 5–10 years (Lo et al. 2007; Fan et al. 2008).
However, there are important ethical and social issues to consider, should non-invasive testing become wide-spread. Ethical concerns about easy to access prenatal diagnosis for a wide variety of conditions include those voiced by disability rights advocacy groups and the ‘slippery slope argument’: if it is justified and routine to have non-invasive testing and subsequent termination for serious conditions, would this eventually lead to a relaxation of ethical standards, such that early pregnancy termination for minor conditions or for example if the baby is not of the desired gender might become acceptable?
Newson (2008) argues that the simplicity of non-invasive prenatal testing would require careful considerations about patient consent. Women would need access to unbiased information and time to think about the implications of such testing before consenting. A study examining health practitioners’ views highlights potential differences in the necessary quality and quantity of pre-test counseling when comparing invasive and non-invasive tests (van den Heuvel et al. 2009). Informed choice might be difficult to achieve when applying a simple, virtually risk-free, test on a population level (Schmitz at al 2009). This could lead to couples receiving information they would retrospectively have preferred not to have or to feeling pressured to be tested.
Pretest counseling should therefore be a vital part of introducing such testing to guarantee autonomous decision making and beneficence of testing. Couples would need to understand the condition being tested for, the voluntary nature of the test, the sensitivity of the test, and their options once a positive result has been identified: as the condition is not curable, the choice is between continuing or terminating the pregnancy. There should also be enough time between counseling and testing, so couples can consider the issues at stake before deciding on testing. For many couples this might be the first time they consider issues surrounding living with a child with a disability, and it is likely that the need for information or support in deciding about testing will vary between couples.
Newson (2008) also raises the question of who should regulate such testing. While current prenatal diagnosis is tightly controlled by clinical services, given the risky and specialized methods required, a simple blood test could be more difficult to regulate. Guidelines would be needed, such as those by the American College of Obstetricians and Gynaecologists on sex selection which opposes terminations following gender determination for personal reasons (ACOG 2007d). Private companies might see an attractive market in offering diagnosis of fetal abnormalities from a simple blood test. Already in the USA, there is a growing market of direct-to-consumer genetic testing companies, which allow individuals to send in a saliva or finger prick sample and report a result directly to the individual. No health professional needs to be involved in such testing, raising concerns about whether individuals have the ability to interpret results and how they will deal and cope with potentially life-affecting genetic information. A recent policy statement by the American Medical Association on direct to consumer testing recommended that genetic testing be carried out under the supervision of a healthcare professional to ensure proper counseling of patients (American Medical Association 2008b).
Organizations such as SAFE (Special Non-Invasive Advances in Fetal and Neonatal Evaluation Network), an international project funded by the European commission, support research not only of the scientific aspects of non-invasive prenatal testing but also into the ethical questions raised (Chitty et al. 2008).
Also, should direct to consumer testing become available for prenatal tests in the USA, women might request more choice about their pregnancies: termination of pregnancy for fetal abnormality would have to be more readily available, particularly for women without health insurance.
Summary of Testing Practices
Comparison of Health Systems and Testing Practices for Down Syndrome in the United Kingdom and United States of America
Termination for fetal abnormality
United Kingdom (UK)
Public healthcare system: the “NHS” (National Health Service)
Local tests available free of charge via NHS
Regional variation, 2009 standards recommend detection rate of >75% with false positive rate of <3%
Available after high risk screen result (2009 cut-off: 1 in 250)
Pre-test: midwives, general practitioners
Legal at any gestation for serious” fetal abnormalities, by referral to local fetal medicine unit
Post-test: specialty midwives, screening co-ordinators
United States of America (USA)
Mostly private insurance based healthcare, Public healthcare only for those on low income or over age 65
Tests dependent on insurance, variations according to insurance plan
Choice of first or second trimester or combination of first and second trimester screening tests, may depend on insurance
Offered to all women, may depend on insurance
Pre-test: obstetricians, genetic counselors
Legal in first trimester, Restrictions in second/third trimester by state; practical restrictions
Post-test: (obstetricians) genetic counselors
Marianne, a 37 year old American currently living in England, was pregnant for the second time. Her first pregnancy had ended in a spontaneous miscarriage at 12 weeks. As she was living and working in London and registered with a local General Practitioner, she qualified for having her antenatal care on the National Health Service (NHS). The General Practitioner referred her to her local London hospital. Marianne was aware of her age-related risk for Down Syndrome (approximately 1 in 200) and felt quite concerned about the possibility of having a baby with Down Syndrome. The Down Syndrome screening test offered to her through the National Health Service was combined testing (Nuchal Translucency (NT) scan plus hCG and PAPP-A testing in the first trimester). This had recently been introduced regionally for women over 35. After reading the national leaflet about Down Syndrome testing and some leaflets provided by the hospital that had been sent to them, Marianne and her husband decided against the NHS test. They instead enrolled in the more accurate Integrated test (NT scan and PAPP-A, plus hCG, AFP and estriol in the second trimester) offered as a private service at her hospital. Marianne’s Integrated test came back with a low risk of 1 in 1300 and she was informed of this by letter, which included a statement that it was unlikely that her baby would have Down Syndrome.
At Marianne’s detailed anomaly scan at 21 weeks, the fetus was identified as having short femurs, a ‘marker’ for Down Syndrome. A marker for Down Syndrome is a generally benign ultrasound finding, the presence of which can, however, increase the chance of a chromosomal abnormality (Smith-Bindman et al. 2001). Marianne was referred to the local fetal medicine unit, where she was re-scanned: the baby looked normal expect for this one marker. Marianne was seen by a fetal medicine specialist and informed that this finding slightly increased her chance for Down Syndrome, but because of her low integrated test result she was still in the low risk group. Nevertheless, according to the department’s policy the fetal medicine specialist offered the couple amniocentesis. Weighing up the low chance of Down Syndrome versus the risk of miscarriage with amniocentesis the couple decided against invasive testing.
The baby was born at term by caesarean section due to fetal distress. After birth, the midwife noticed some unusual features in the baby and the attending pediatrician confirmed a suspicion of Down Syndrome. A blood sample was taken from the baby and sent to the regional cytogenetics laboratory. A rapid diagnosis of Down Syndrome was confirmed by QF-PCR (quantitative fluorescent polymerase chain reaction), a test examining the quantity of molecular markers on chromosome 21 (Von Eggeling et al. 1993). Cell culturing was carried out and a full chromosome count (karyotype) of all chromosomes showed standard trisomy 21. The pediatrician organized a referral to the hospital’s genetic counselor to discuss the genetics of Down Syndrome.
When the genetic counselor met with the couple they seemed somewhat hostile. Discussing their options, they declined giving the baby for adoption stating they now felt committed to their baby. The genetic counselor asked if they had any questions about the screening process or why it had not been picked up that the baby had Down Syndrome. The couple immediately expressed frustration with the screening test, stating that they would have terminated the pregnancy had they known the baby had Down Syndrome. A long discussion ensued about detection rates, screening methods and policies for offering amniocentesis. The couple felt that—although amniocentesis had been mentioned—it had not been presented as a justified choice considering their ‘low risk’. They seemed particularly frustrated about the fact that diagnostic testing would have been offered to them directly in the United States because of Marianne’s age, without prior screening—which in this case had given them a false sense of security. The genetic counselor tried to explain the rationale for performing population-wide screening rather than using age alone: improved detection rates and lower screen positive rates, with fewer miscarriages after invasive testing. However, the genetic counselor had trained and worked in the US herself and she was familiar with the practice of offering women over age 35 diagnostic testing directly. She sensed that this couple might have felt they could easily have avoided the birth of a disabled child, had their pregnancy care been in the US. She revealed her knowledge of prenatal testing practices in the US and felt that this made the couple open up and develop some trust in her. There was a sense that the couple did not need to ‘explain themselves’ but that the genetic counselor understood the testing practices back home, and consequently understood the couple’s frustration and anger about the UK system.
The couple was concerned about their risk of recurrence. Having had a miscarriage previously and having read on the internet that pregnancies with Down Syndrome have a higher frequency of miscarriage, they requested their chromosomes be tested to check for chromosome translocations that would increase their chance of another pregnancy with a chromosomal abnormality. The genetic counselor informed them that parental karyotyping was not indicated in their case as the baby had standard trisomy 21, which is not inherited. The previous miscarriage was unlikely to be related to the chromosome findings in this baby. Indeed, parental karyotyping would therefore not be funded by the National Health Service. However, knowing about the different health care system in the US, the genetic counselor offered that chromosome testing could be ordered privately, if the couple felt a normal result would reassure them. Private testing could be arranged either through the regional cytogenetics centre or through a private laboratory. Feeling validated in their concern but now understanding the scientific basis of why parental chromosome testing was not offered, the couple declined further testing.
The genetic counselor discussed testing in any future pregnancy. The couple was glad to learn that CVS or amniocentesis would be offered to them even in the UK now in any future pregnancy as having a previous baby with Down Syndrome slightly increased their chance (to approximately 1%) of having another pregnancy with this condition (Warburton et al. 2004; Morris et al. 2005).
When reflecting about this case, the genetic counselor sensed that her experience of prenatal testing practices in the US had helped her connect with this couple who felt let down by the screening process in the UK. Being used to different screening practices, which in this case would have avoided the birth of a child with Down Syndrome, the couple had not understood the rationale for testing practices in the UK until after the birth of their child. While at the same time validating their doubts and frustrations, the genetic counselor was able to use her experience in the US to sensitively explain UK policies and compare them to practices in the USA. This allowed her to develop a better relationship with her American clients. The open discussion facilitated the first steps towards the couple accepting their situation.
Internationally, the introduction of antenatal screening has led to a reduction in live-births of Down Syndrome (Khoshnood et al. 2004; Cheffins et al. 2000) or to at least counter the effect of increasing maternal age with associated rising prevalence of Down Syndrome pregnancies (Dolk et al. 2005). Similar findings were reported from the UK (Morris 2009) and US (Egan et al. 2004).
Although the testing methodologies per se are largely the same in many countries, the implementation of the testing methods by the different healthcare systems leads to important differences in patient experience, as exemplified in the presented case, with implications for genetic counseling practice.
In the United States, no national program exists and testing seems more determined by individual preference and health insurance. This leads to a wide variety in the type of testing offered. Patients will get the choice between first trimester or second trimester screening or diagnostic testing. The recent American College of Obstetricians and Gynecologists’ guidelines appear to have produced a gradual change in practice with the majority of obstetricians nowadays offering first trimester screening for Down Syndrome (Driscoll et al. 2009). However, while some insurance plans cover all tests, others will only pay for certain testing. Dependent on their health insurance, some women in the US might therefore forego testing for Down Syndrome altogether or be denied their test of choice (such as, for example, amniocentesis for a woman under 35) if this is not covered by their insurance.
In contrast, in the UK, a national program aims to guarantee access to a uniform screening program with an agreed level of quality for all pregnant women free of charge on the National Health Service. The national screening program aims to be fair and cost-effective. While there is still regional variation in Britain in regards to what type of screening is offered, the national program ensures a certain standard is met. A comparison with other countries with a public healthcare system, such as Canada for example, would be interesting, to look for similarities with the English system.
When looking at the different screening tests, could a particular screening modality be judged ‘best’? Obviously there are many aspects to consider when trying to compare screening tests. These include gestation at time of result, detection and false positive rates, cost effectiveness, ease of administration and patient acceptance. First trimester screening also relies on the availability of early diagnostic testing (CVS) for screen-positive results. The UK program favors combined first trimester testing over the more accurate Integrated test (NICE guideline 2008) partly due to its easy one-step administration and fear over non-compliance for the second blood test that is required with Integrated testing. In addition, Integrated testing has been judged ethically problematic, as first trimester results are not disclosed until completion of the second step (Sharma et al. 2007). However, one study found that many women seem to prefer the most effective and safe screening test over earlier results (Bishop et al. 2004). A recent audit by two London hospitals showed that Integrated testing works well on a population level (Wald et al. 2009). Contingent (first and second trimester) screening has been suggested to be the most cost-effective screening test (Ball et al. 2007; Gekas et al. 2009). This test discloses first trimester results when they are very high or very low risk, with only those with an intermediate risk referred for second trimester screening that is then combined with the first trimester result. However, accuracy, practicality and patient acceptance of this screening pathway on a population level need to be assessed.
Second Trimester Ultrasound
Some controversy still exists over the role of second trimester ultrasound in screening for Down Syndrome. The UK gives clear guidelines regarding the use of ‘soft’ ultrasound markers (such as echogenic bowel, short long bones, intracardiac echogenic focus, and dilated renal pelvis) for Down Syndrome risk assessment (NICE guidance 2008): detection on routine anomaly scan of two or more soft markers for Down Syndrome should prompt referral to a fetal medicine center, who can consider the offer of diagnostic testing based on the ultrasound finding, the woman’s history and her prior risk. Similarly, the American College of Obstetricians and Gynecologists guidelines (2007b) recommend that, because of the lack of standardized measurements and the current variability in diagnostic strength of ultrasound, risk adjustment based on soft ultrasound findings be restricted to expert centers.
Although second trimester ultrasound might increase the detection rate of prenatal screening for Down Syndrome, it has also been shown to increase the false-positive rate (Krantz et al. 2007; Benacerraf 2005). Overall, the accuracy of second trimester ultrasound scanning (the ‘genetic sonogram’) for the detection of Down Syndrome is still unclear and caution is needed when modifying risk after ultrasound (Smith-Bindman et al. 2007). In addition, care needs to be taken for psychological reasons when counseling patients about ultrasound findings: it has been suggested that ultrasound findings lead to higher patient anxiety than maternal serum screening or age-based risk assessment (Hoskovec et al. 2008; Weinans et al. 2004). Whether patients are able to make an informed decision about invasive testing after ultrasound findings therefore needs to be considered (see below for issues on informed consent).
Offer of Diagnostic Test
Much emphasis has been placed on lowering the false-positive rate of screening in order to reduce the number of invasive tests with the associated risk of fetal loss. More recent studies suggest a smaller risk of miscarriage associated with amniocentesis than the 1% generally quoted, even as low as 0.06% (Eddleman et al. 2006; Seeds 2004; Nassar et al. 2004; Mujezinovic and Alfirevic 2007). Considering these more recent figures, one could argue that diagnostic testing could be offered more widely and be each woman’s individual choice, as is practice in the USA. However, the UK’s National Screening Committee has not included this new evidence into their updated standards. The UK’s national program emphasizes the fairness of the screening program where, by adhering to national guidelines, every woman should be treated equally. For this reason, the UK system uses fixed cut-offs which also enable audit to follow the detection and false-positive rates of the national screening program. Evaluation of the program happens on a population level. In the US, more emphasis is placed on the individual choice of the woman, who can decide if a particular screen result warrants invasive testing based on her personal values.
Cost-effectiveness will be a contributing factor in the offer of diagnostic testing. The UK’s program is funded by the National Health Service and might therefore favor cheaper screening tests over the more expensive invasive tests, accepting that due to the false-negative rate of screening some pregnancies with Down Syndrome will be missed. However, one recent cost utility analysis suggests that invasive testing is cost-effective when CVS or amniocentesis are offered to all women, even ‘low-risk’ women, if one factors in women’s preferences and possible outcomes expressed as quality-adjusted life years (Harris et al. 2004). Further research into this topic could potentially lead to a change in practice.
Another reason to lower screen-positive rates or avoid labeling results as ‘high risk’ is the psychological response of women to their screen result. Receiving a high risk result leads to considerable anxiety, that may even last until after a negative result from diagnostic testing, and to temporary loss of bonding with the pregnancy (Green et al. 2004; Georgsson et al. 2006).
Patient Autonomy and Informed Consent
The UK system only offers a diagnostic test to those who have been deemed ‘high risk’ through prior screening and could therefore be criticized as denying women the autonomy of deciding for themselves if they wish to pursue diagnostic testing (Alfirevic 2009). Who decides what is more acceptable: missing affected cases or losing healthy fetuses due to invasive testing? Should this decision be left to couples or to policy-makers? Many factors could determine a woman’s risk perception, such as already having healthy or disabled children, fertility issues, her own age at the pregnancy and the perceived severity of the condition. Whether to have amniocentesis or not depends on these personal factors and values, and the decision varies according to social and familial context (Kupperman et al. 2000; Learman et al. 2003). Likewise, the uptake of amniocentesis shows substantial regional variation (Khoshnood et al. 2004) and seems lower in certain ethnic groups (Ford et al. 1998). It also depends on the screening result (Mueller et al. 2005). A theoretical study by Zikmund-Fisher et al. (2007) showed that women are more likely to decide for amniocentesis if their risk was labeled ‘high risk’ than when they were given the result without label. Labeling a result as ‘low’ or ‘high’ risk does therefore appear to influence women’s decision on invasive testing.
Considering the personal factors that influence the decision concerning amniocentesis, one could argue that all women should have the option of diagnostic testing. Leaving women to decide what level of statistical risk is acceptable to them without categorizing them as ‘high’ or ‘low’ risk might give them more autonomy, but it raises the question of whether the majority of women are capable of taking such a decision (van den Berg et al. 2005b). Many women do not make fully informed choices about prenatal screening based on a detailed understanding and evaluation of all aspects involved, but instead might rely on recommendations by significant others or health professionals (Green et al. 2004; Kobelka et al. 2009). Some women might prefer to be told if their result is low risk, i.e. overall reassuring, or high risk and warranting further testing. In addition, do societal pressures occasionally ‘coerce’ women into having diagnostic testing? Does the UK system, for example, pressure women to take up invasive testing once they are labeled ‘high risk’, as this would be the expected pathway in the screening process? On the other hand, does fear of litigation in the USA prompt more American physicians to offer amniocentesis than in the UK, where lawsuits are less common?
Clearly, with such a confusing array of testing modalities and decisions to be made along the testing pathway, appropriate counseling is paramount. Are the midwives and obstetricians who often provide this counseling sufficiently qualified and trained to do so? Earlier studies suggested that many obstetricians in the US did not feel adequately trained to counsel patients about prenatal testing issues (Cleary-Goldman et al. 2006) but this has apparently improved since the introduction of the American College of Obstetricians and Gynecologists’ guidelines (Driscoll et al. 2009).
In England, most pre-test counseling is provided by the General Practitioner or a midwife during the first antenatal visit. Considering the pre-test discussion about testing for Down Syndrome is part of a general discussion about pregnancy and screening for other conditions such as hemoglobinopathies and infections (as described in the national antenatal screening program, NICE guidance 2008) one can imagine that there is often not much time for in-depth discussion or consideration of an individual topic such as Down Syndrome. Some couples might therefore start the screening process with insufficient knowledge or awareness of the sensitivity, specificity or implications of such testing (Green et al. 2004; van den Berg et al. 2005b). Post-test counseling for high risk results is provided by specialist midwives or screening coordinators, but at this point some women are not even aware they had a test for Down Syndrome or what a screening test is, so considerable explanation might be needed in some cases.
Genetic counselors are in a unique position to provide prenatal testing counseling due to their specialist training and communication skills (Resta et al. 2006). Genetic counselors working in prenatal settings in North-America play an important part in informing pregnant women of their choices regarding prenatal testing and aid in decision making. Once a couple receives a ‘high risk’ result and needs to consider the risks associated with invasive testing and the implication of a positive result, a common question is: “What would you recommend?” Detailed client-centered discussion about the benefits and risks of obtaining information by diagnostic testing versus the uncertainty of not knowing can in those cases help couples come to a decision that is right for them. Genetic counselors are especially qualified to provide this type of non-directive counseling.
But while ideally all couples should receive counseling before embarking on screening, due to time constraints and job shortages, genetic counselors would not be able to see all pregnant women for the same timely and intensive counseling that is currently mostly provided to ‘high-risk’ women. A similar in-depth pre-test counseling discussion would probably facilitate the screening pathway for many couples. One possibility is to provide group sessions, written information or computer-based materials that are accessible to all pregnant couples and give detailed information, thus allowing reflection of the issues before testing.
Web resources have been developed that present information to patients and health care providers (for some UK resources see for example AnSWeR (http://www.antenataltesting.info/conditions.html), DIPEx (http://www.healthtalkonline.org/) or Telling stories (http://www.geneticseducation.nhs.uk/tellingstories/)). However, giving truly balanced information about the condition(s) being tested for is difficult to achieve (Ahmed et al. 2007).
Termination of Pregnancy
One aim of screening programs for Down Syndrome is to give women and their partners the choice of ending the pregnancy. This choice will depend on the legal situation regarding termination of pregnancy which varies between countries. Looking at the frequency of termination for Down Syndrome, recent research from Europe and Australia suggests that the majority of prenatally detected cases will be terminated in these countries (Boyd et al. 2008; Cheffins et al. 2000). No current, comprehensive data exist for the US and there will likely be regional variation. Khoshnood et al. (2003), for example, found socioeconomic differences in the prevalence of Down Syndrome births with ethnic minorities in the US being less likely to accept amniocentesis and having higher rates of live Down Syndrome births. Their research also found that US states allowing public financing of abortion had lower rates of live-births of Down Syndrome.
In the UK, the possibility of accessing abortion for serious fetal abnormalities virtually without restrictions allows more time for consulting with family members, religious leaders or health professionals. It has been suggested that not setting a gestational limit for pregnancy termination for fetal abnormality, as in the UK, might actually in some cases reduce the number of terminations carried out overall, as it allows more time for further investigations and fetal evaluation to clarify the prognosis, thus avoiding unnecessary terminations in the second trimester (Dommergues et al. 1999). For many couples this complex decision presents the most difficult time of their lives and it incorporates many personal factors, such as family support, lifestyle, and cultural and religious values. Although the legal framework for late abortions for Down Syndrome exists in the UK, the ethical justification of late termination is controversial, with some believing termination for serious abnormality is ethical at any point in gestation (Paintin 1997) and others arguing that is should be restricted to lethal conditions (Chervenak et al. 1999).
Late termination also has serious implications from a counseling perspective. Having a termination for fetal abnormality at any point in gestation can have severe psychological consequences and many women take a long time to adjust (Korenromp et al. 2005). Gestational age seems to play a role for adjustment, with termination done after 14 weeks leading to higher grief and posttraumatic stress symptoms. Some patients might receive a diagnosis as late as 34–36 weeks if third trimester amniocentesis was performed after 32 weeks. Some women choose such late diagnostic testing because there is no risk of miscarriage with the procedure at this stage: any procedure-related complications would lead to delivery of a viable baby with usually no long-term health consequences from prematurity. Termination at such late time in gestation is understandably an extremely difficult decision and many couples might at this point decide to continue with the pregnancy.
Extensive counseling is often needed to help couples come to a decision about termination or continuing and to adjust to the outcome. If involved at that stage, with their counseling skills genetic counselors can make a crucial difference in helping families through such a difficult time. Support groups are vital resources after termination and many genetic counselors assist in such groups. In the UK, the national charity Antenatal Results and Choices (ARC, www.arc-uk.org) provides support to couples throughout the prenatal testing process, including after the diagnosis of an affected pregnancy. Their informative leaflets about continuing or terminating an affected pregnancy are distributed by many fetal medicine specialists to their patients. ARC also offers a telephone helpline that many patients find extremely helpful (personal observation). In the USA, national support groups helping parents after the loss of a baby include Bereaved Parents (http://www.bereavedparentsusa.org/) or Compassionate Friends (http://www.compassionatefriends.org/).
Overall, late terminations are fortunately extremely rare. Fetal abnormalities (including Down Syndrome) account for about 1% of terminations overall in the UK (Human Genetics Commission 2004), with only about 0.05% of terminations carried out after 25 weeks under Clause E (Paintin 1997). In the US, the Center for Disease Control (CDC) reports that 1% of abortions are carried out past 21 weeks (Centers for Disease Control and Prevention 2005) but statistics about fetal abnormality are not reported.
The more recent move towards first trimester screening allows earlier diagnosis of fetal abnormalities. Future non-invasive prenatal diagnosis could potentially already produce a diagnosis by 8–9 weeks of pregnancy. A first trimester diagnosis of abnormality allows couples more time for preparation or earlier decision-making regarding continuing the pregnancy. This could reduce the number of terminations carried out in the second or third trimester of pregnancy. Thus even couples in countries with restrictions on second trimester abortion would have more time for decision-making and greater choice. A first trimester diagnosis might also give the option of keeping a termination private before any visible signs of pregnancy and before having publicly acknowledged the pregnancy, thus avoiding judgment and needing to give explanations. On the other hand, fetuses with Down Syndrome have a substantial risk of miscarriage between the first and second trimester (Savva et al. 2006), and it can be argued that earlier diagnosis might therefore lead to unnecessary terminations of fetuses that would have miscarried anyway.
Perception of Down Syndrome
The decision about termination or continuing will depend on the perceived severity of the condition. Down Syndrome is a variable condition, both with regards to the severity of learning difficulties as well as associated physical health problems. This variability can make a decision more difficult. Almost half of all babies with Down Syndrome have heart defects (Freeman et al. 2008) and other health problems are also more frequent than in the general population (Schieve et al. 2009). However, life expectancy has increased to about 60 years of age in recent years and the learning potential of people with Down Syndrome has improved over the last decades since they are more often brought up in a loving home environment rather than institutions with a lack of stimulation and learning opportunities. While many adults with Down Syndrome are not able to live independently, many are nowadays able to live productive and fulfilled lives (Alderson 2001). The role of professionals involved in counseling parents after a diagnosis is to provide up-to-date, balanced information on the condition, so that parents can make a decision that corresponds to their beliefs, culture, lifestyle and support system.
Applying the discussed prenatal testing aspects to the presented case demonstrates some implications on genetic counseling practice. The couple in the case had little pre-test counseling. They had in fact educated themselves mostly by reading information on the internet or leaflets provided by the hospital. An in-depth discussion with the midwife had probably not taken place. A thorough pre-test discussion, for example with a genetic counselor, might have enabled the couple to compare testing practices in their country of origin versus the country they had their prenatal care in, creating awareness of the differences. They would then perhaps have better understood the difference between screening on a population level (high detection rates with certain false-negative rates) and an individual level (individual preference for diagnostic testing with the risk of miscarriage). With such a discussion they might have felt more informed and empowered about their decision regarding prenatal testing.
About the couple’s interpretation of their screening test results. Did they understand that screening tests carry a low but significant false-negative rate? Many patients are not aware of this fact (Dahl et al. 2006).
About their motivations. Why did they choose private Integrated testing?
About their anxieties. What would it mean for them to have a baby with Down Syndrome?
Such a discussion could have made them more aware of the different risks they were facing (miscarriage versus having a baby with Down Syndrome) and could maybe have prepared them better for the eventuality of having a baby with Down Syndrome.
In the US, they would have been presented with the risk of Down Syndrome without the label ‘low risk’ and might have decided for amniocentesis after identification of the ultrasound marker. As things were, the couple had felt quite safe with their low risk screening result and had not given the possibility of having a baby with Down Syndrome a second thought. The diagnosis of the baby after delivery therefore came as a massive shock. The couple probably experienced feelings of grief (see below), which seemed to manifest specifically through anger. Their anger was directed against the ‘system’ that had failed them: in their home country they would have been offered amniocentesis as a routine practice and could have been spared this situation.
The pediatricians who had informed the couple of the diagnosis focused on the medical aspects of Down Syndrome. They reportedly attempted to show the positive side of having a baby with Down Syndrome but maybe lacked the counseling skills to address the couple’s possible feelings and concerns: the couple might have felt let down by the screening process, misunderstood about their feelings about having a child with Down Syndrome and frustrated about their lack of control over the situation. The couple might also have found it particularly difficult to accept their baby’s unwanted diagnosis, as they had actually been offered amniocentesis but declined. There perhaps were feelings of regret about this earlier decision and anger with themselves. Although it was easy for them in retrospect to blame the English system for their situation, it is unknown whether they might have similarly decided against amniocentesis in their home country: their prior miscarriage and the risk of miscarriage associated with amniocentesis might have led them to the same conclusion in the US, i.e. to decline invasive testing.
It is unknown if the couple was offered any written material about Down Syndrome by the pediatrician at the time of diagnosis. Skotko (2005) found that women who were given a diagnosis of Down Syndrome suggested that up-to-date printed material eases the impact of receiving such a diagnosis.
The genetic counselor met them for the first time four weeks after the diagnosis. She had counseled other couples in this situation and was familiar with the emotions families experience after the diagnosis of a child with special needs. These have been likened to the emotions felt after any loss, and often happen in five stages: shock, denial, anger, adaptation and reorganization (Drotar et al. 1975). Mothers have also been described as feeling “anxious, frightened, guilty, angry, and, in rare cases, suicidal” (Skotko and Bedia 2005). Parents of children with Down Syndrome who had a false-negative prenatal screen result are more likely to blame others for their situation and to show poorer adjustment and bonding with their child (Hall et al. 2000). This couple seemed to blame the English system for their situation. This was perhaps in part due to a lack of understanding of screening practices and in part maybe to their sense of being misunderstood.
Genetic counselors often encounter clients from different cultural backgrounds in their clinical practice due to high rates of population mobility in modern multicultural societies. Sensitivity and knowledge of cultural differences are required to provide appropriate genetic counseling to different ethnic communities. Multicultural training to achieve these skills has been recommended to be part of genetic counselors’ education (Weil 2001). Awareness of different screening/counseling practices is potentially an important part of this training. Counselors need to be well informed with up-to-date information and confident in presenting information. In this case, the genetic counselor’s knowledge of testing practices in the US might have helped her be seen as an expert in the field and for the couple to develop trust in her. Understanding the thought processes of these clients with a different cultural background aided the genetic counselor in better connecting with them. Her explanation of the rationale for carrying out population-wide screening (which due to the false negative rate leads to the births of some undiagnosed babies with Down Syndrome) did not make it easier for the couple to accept their situation, but it enabled them to better understand that these circumstances had not come about through a failing in the system. The genetic counselor was able to understand the couple’s experience and expectation of testing for Down Syndrome from their home country and to respond in an informed, sensitive and caring manner. This helped her develop a relationship with the couple.
The case also serves as a reminder that genetic counselors should always be mindful that perception of statistical risk is highly subjective, both across different populations and within a given population (Caughey et al. 2008). Many patients have difficulties comparing risks, whether presented as rates (e.g. 2 per 1000 versus 10 per 1000), proportions (1 in 500 versus 1 in 100) or percentage (0.2% versus 1%) (Grimes & Snively 1999; Nagle et al. 2009). Evaluating patients’ expectations, understanding their risk perception and effective risk communication are vital to achieve informed consent regarding the decision to undergo invasive testing. While the couple had felt at the time that a calculated ‘low’ risk of 1/1300 after screening was acceptable balanced with the risk associated with invasive testing (quoted as 1/100), they were clearly unhappy with the final outcome. Earlier encounters with a genetic counselor might have revealed that they would in fact have been far more comfortable with the certainty afforded by amniocentesis.
Thus, genetic counselors’ exposure to different screening practices might help remind them of important questions they should tackle with any patient: what are my patients’ expectations regarding the testing protocol? Are there any differences between their experience, possibly from their own country, and what they will be offered locally? Do my patients understand the difference between screening and diagnostic testing? Are they equipped with the knowledge to decide whether the costs/risks of invasive testing are worth taking in their case? Should they seek as much information about their baby prenatally as possible or would such information be unhelpful or confusing to them? What would they do with the information should they decide for further testing?
Once an unexpected postnatal diagnosis of Down Syndrome has been made, the genetic counselor’s role includes helping the family adjust to the new situation. With appropriate counseling and communication skills genetic counselors can help couples move through the stages of grief they might be experiencing, towards eventual readjustment. Counselors should assess and acknowledge their clients’ feelings and reassure them these are normal, where this is appropriate. In cases like the presented, where couples move abroad and away from their families, it is important to be aware of the lack of family support. This couple’s family lived in the US, and they had therefore little practical and emotional support after the birth of their baby.
An in-depth discussion of possible counseling interventions after an unexpected diagnosis is beyond the scope of this article. Several approaches have been suggested, such as group intervention, with or without cognitive behavioral therapy (Hastings and Beck 2004). Systematic early family intervention therapy has been shown to improve adaptation and to lower stress, depression and anxiety in parents of children with Down Syndrome (Pelchat et al. 1999). It might help to empower the family by identifying their strengths. For several practical suggestions and ideas see an article by Brasington (2007), who recommends emphasizing the ‘normal’ aspects of a baby who has Down Syndrome. It can also be helpful to make parents aware of their expectations of the child and how these might still be achieved ‘despite’ the disability (such as their child being happy and feeling loved). Better parental acceptance of a child with learning difficulties appears to reduce maternal depression and stress (Lloyd and Hastings 2008). Establishing a parent network with other parents of children with Down Syndrome, who can provide emotional support as well as information, can strengthen parental coping. Such parent to parent programs have been successfully introduced in the US (Singer et al. 1999). The couple here was given the contact details of the Down Syndrome Association, but this large society was perhaps too impersonal for them in the beginning, as the couple did not make contact with the association in the first few weeks. The couple later connected with other local families with children with Down Syndrome and this seemed to aid in slowly accepting their situation.
A comparison of testing for Down Syndrome in the UK versus USA shows that the testing methodologies per se are largely the same. However, the implementation of the testing methods by the different healthcare systems leads to important differences in patient experiences, with implications for genetic counseling practice. For genetic counselors in prenatal settings in-depth knowledge of local practices is a prerequisite. However, awareness of the screening practices in other countries can help genetic counselors connect with clients from different cultural backgrounds, thus facilitating the genetic counseling encounter. Looking at the testing practices in detail underlines several questions with implication for genetic counseling practice, such as patients’ understanding of testing practices, risk perception, adequate counseling provision and impact of testing results.
Prenatal testing for Down Syndrome is constantly evolving and might soon see the emergence of non-invasive diagnostic testing. This has important implications for parents’ decision-making and informed consent. Ongoing open discussion about different practices, not only among professionals but also involving lay people, the ‘consumers’, should ensure that prenatal testing will evolve in a way that benefits all concerned. Genetic counselors are in a unique position to contribute to this discussion as they understand the scientific basis of new tests while witnessing the impact these have on patients. Knowledge of international testing practices enables a more thorough evaluation of local practices and can help those who are involved in developing pathways and guidelines, whether on an institutional, regional, or national level.