Skip to main content

Screening for Down syndrome in dichorionic twin pregnancies conceived by in vitro fertilization (IVF): a clinical pilot study to confirm the laboratory methods

Journal of Assisted Reproduction and Genetics volume 31, pages 125–128 (2014)Cite this article

Abstract

Purpose

The corrections necessary to estimate the risk for Down syndrome in twin pregnancies have been pointed out. We performed a nested controlled study to evaluate the validity of these corrections in dichorionic twins conceived by IVF.

Methods

Detailed clinical data was collected from the medical records. Twins were matched with a contemporaneous cohort of spontaneously conceived singleton pregnancies that serve as reference in a 1 to 4 ratio. All patients had their entire obstetrical care at our Hospital. The Student t-test was used for group comparisons and a p-value <0.05 was considered significant.

Results

Nineteen sets of normal twins concordant in size and with appropriate weight for gestational age were matched with 80 normal and mature newborns. Significant differences between groups were found for maternal age, gestational age at delivery and newborn weight (all p < 0.01). No statistical differences were noted for the levels of the biochemical markers expressed as multiples of the median. However, a 15 % closer approximation to the laboratory median for PAPP-A and a 10 % closer approximation to the laboratory median for free β-hCG was evident in twins when compared to the reference group.

Conclusions

These findings support the methods used to estimate the risk for Down syndrome in dichorionic twin pregnancies conceived after IVF. A future study with a larger sample size could confirm if the laboratory corrections done on the combined screening test improve the predictability of Down syndrome in dichorionic twin pregnancy conceived by IVF when compared to singleton pregnancies.

This is a preview of subscription content, access via your institution.

Access options

Buy single article

Instant access to the full article PDF.

USD 39.95

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

References

  1. Martin JA, Hamilton BE, Ventura SJ, et al. Births: final data for 2009. Natl Vital Stat Rep. 2011;60:1–70.

    PubMed  Google Scholar 

  2. Sepulveda W, Sebire NJ, Nicolaide KH. The lambda sign in twin pregnancies. Ultrasound Obstet Gynecol. 1996;8:429.

    Article  CAS  PubMed  Google Scholar 

  3. Hubinont C, Santolaya-Forgas J. A systematic approach to first-trimester ultrasound assessment of twins. Am J Perinatol. 2010;27:595–8.

    Article  PubMed  Google Scholar 

  4. Santolaya J, Faro R. Twins–twice more trouble? Clin Obstet Gynecol. 2012;55:296–306.

    Article  PubMed  Google Scholar 

  5. Borrell A, Robinson JN, Santolaya-Forgas J. Report on the 11- to 13 + 6-week ultrasound evaluation as a screening test for trisomy 21 in singleton pregnancies. Am J Perinatol. 2009;26:703–10.

    Article  PubMed  Google Scholar 

  6. Maymon R, Jauniaux E. Down’s syndrome screening in pregnancies after assisted reproductive techniques: an update. Reprod Biomed Online. 2002;4(3):285–93.

    Article  PubMed  Google Scholar 

  7. Odibo AO, Lawrence-Cleary K, Macones GA. Screening for aneuploidy in twins and higher-order multiples: is first-trimester nuchal translucency the solution? Obstet Gynecol Surv. 2003;58:609–14.

    Article  PubMed  Google Scholar 

  8. Wald NJ, Rish S, Hackshaw AK. Combining nuchal translucency and serum markers in prenatal screening for Down syndrome in twin pregnancies. Prenat Diagn. 2003;23:588–92.

    Article  PubMed  Google Scholar 

  9. Spencer K, Kagan KO, Nicolaides KH. Screening for trisomy 21 in twin pregnancies in the first trimester: an update of the impact of chorionicity on maternal serum markers. Prenat Diagn. 2008;28:49–52.

    Article  PubMed  Google Scholar 

  10. Gonce A, Borrell A, Fortuny A, Casals E, et al. First trimester screening for Trisomy 21 in twin pregnancy: does the addition of biochemistry make an improvement? Prenat Diagn. 2005;25:1156–61.

    Article  PubMed  Google Scholar 

  11. Wald N, Leck I. Down syndrome. Antenatal and neonatal screening. 2nd ed. Oxford: Oxford University Press; 2000. p. 85–115.

    Book  Google Scholar 

  12. American Congress of Obstetricians and Gynecologists (ACOG). Practice Bulletin No. 77: screening for fetal chromosomal abnormalities. Obstet Gynecol. 2007;109:217–27.

  13. Chasen ST, Perni ST, Kalish RB, Chevernak FA. First-trimester risk assessment for trisomies 21 and 18 in twin pregnancy. Am J Obstet Gynecol. 2007;197:374 e1–3.

    Article  Google Scholar 

  14. Faro R, Santolaya-Forgas J, Oyelese Y, et al. J Neonatal Perinatal Med. 2013;6(2):109–15.

    CAS  PubMed  Google Scholar 

  15. Liao AW, Heath V, Kametas N, et al. First-trimester screening for trisomy 21 in singleton pregnancies achieved by assisted reproduction. Hum Reprod. 2001;16:1501–4.

    Article  CAS  PubMed  Google Scholar 

  16. Ghisoni L, Ferrazi E, Castagna C, et al. Prenatal diagnosis after ART success: the role of early combined screening tests in counselling pregnant patients. Placenta. 2003;24(Suppl B):S99–103.

    Article  PubMed  Google Scholar 

  17. Orlandi F, Rossi C, Allegra A, et al. First trimester screening with free beta-hCG, PAPP-A and nuchal translucency in pregnancies conceived with assisted reproduction. Prenat Diagn. 2002;22:718–21.

    Article  CAS  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Departments of Obstetrics, Gynecology and Reproductive Sciences, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA

    Lissa Francois, Lindsay Kugler, Jacobo L. Santolaya, Revital Faro, Valeria Di Stefano, Lena Merjanian & Joaquin Santolaya-Forgas

  2. Jersey Shore University Medical Center, Neptune, NJ, USA

    Joaquin Santolaya-Forgas

  3. Center for OBGYN Research and Mentorship, Department of Obstetrics, Gynecology & Reproductive Sciences, Department of Human Genetics, Robert Wood Johnson Medical School at Rutgers the State University of New Jersey, 125 Paterson Street, New Brunswick, NJ, 08901, USA

    Joaquin Santolaya-Forgas

Authors
  1. Lissa Francois
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Lindsay Kugler
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Jacobo L. Santolaya
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Revital Faro
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Valeria Di Stefano
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Lena Merjanian
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Joaquin Santolaya-Forgas
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Joaquin Santolaya-Forgas.

Additional information

Capsule

For women with Dichorionic twins after IVF the combined first trimester test is an appropriate Down syndrome screening test.

Rights and permissions

Reprints and Permissions

About this article

Cite this article

Francois, L., Kugler, L., Santolaya, J.L. et al. Screening for Down syndrome in dichorionic twin pregnancies conceived by in vitro fertilization (IVF): a clinical pilot study to confirm the laboratory methods. J Assist Reprod Genet 31, 125–128 (2014). https://doi.org/10.1007/s10815-013-0130-y

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-013-0130-y

Keywords

  • Twin pregnancies
  • IVF
  • First trimester combined screening test
  • Down syndrome screening
  • Free β-hCG
  • PAPP-A