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Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors

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Journal of Genetic Counseling

Abstract

The objective of this document is to provide recommendations for genetic counseling and screening for consanguineous couples (related as second cousins or closer) and their offspring with the goals of

1. providing preconception reproductive options

2. improving pregnancy outcome and identifying reproductive choices

3. reducing morbidity and mortality in the 1st years of life, and

4. respecting psychosocial and multicultural issues.

The recommendations are the opinions of a multicenter working group (the Consanguinity Working Group (CWG)) with expertise in genetic counseling, medical genetics, biochemical genetics, genetic epidemiology, pediatrics, perinatology, and public health genetics, which was convened by the National Society of Genetic Counselors (NSGC). The consensus of the CWG and NSGC reviewers is that beyond a thorough medical family history with follow-up of significant findings, no additional preconception screening is recommended for consanguineous couples. Consanguineous couples should be offered similar genetic screening as suggested for any couple of their ethnic group. During pregnancy, consanguineous couples should be offered maternal–fetal serum marker screening and high-resolution fetal ultrasonography. Newborns should be screened for impaired hearing and detection of treatable inborn errors of metabolism. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a health care provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.

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REFERENCES

  • Adams MS, Neel JV (1967) Children of incest. Pediatrics 40:55–62.

    Google Scholar 

  • Al-Abdulkareem AA, Balal SG (1998) Consanguineous marriage in an urban area of Saudi Arabia: Rates and adverse health effects on the offspring. J Community Health 23:78–83.

    Google Scholar 

  • Al-Awadi SA, Moussa MA, Naguib KK, Farag TT, Teebi AS, El-Khalafia M, El-Doussary L (1985) Consanguinity among the Kuwaiti population. Clin Genet 27:483–486.

    Google Scholar 

  • Al-Gazali LI, Bener YM, Abdulrazzaq YM, Micallef R, Al-Khayate AI, Gaber T (1997) Consanguineous marriages in the United Arab Emirates. J Biosoc Sci 29:491–497.

    Google Scholar 

  • Allan LD (2000) A practical approach to fetal heart scanning. Semin Perinatol24:324–330.

    Google Scholar 

  • Alwan A, Modell B (1997) Community Control of Genetic and Congenital Disorders. EMRO Technical Publications Series, 24, World Health Organization, Regional Office for the Eastern Mediterranean, Alexandria, Egypt.

    Google Scholar 

  • American College of Medical Genetics/American Society of Human Genetics Test and Technology Transfer Committee Working Group (2000) Tandem mass spectrometry in newborn screening. Genet Med 2:267–269.

    Google Scholar 

  • American College of Obstetrics and Gynecology, Committee on Obstetric Practice (1994) Down Syndrome Screening, Number 141. ACOG, 409 12th Street SW, P. O. Box 96920, Washington, DC, 20090-6920.

  • American College of Obstetrics and Gynecology, Committee Opinion (2000) Genetic Screening for Hemoglobinopathies, Number 238. ACOG, 409 12th Street SW, P. O. Box 96920, Washington, DC, 20090-6920.

  • American Society of Human Genetics Social Issues Committee and the American College of Medical Genetics Social, Ethical, and Legal Issues Committee (2000) ASHG/ACMG statement: Genetic testing in adoption. Am J Hum Genet 66:761–767.

    Google Scholar 

  • Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969-1996. Pediatrics 105:e10.

    Google Scholar 

  • Baird PA, Anderson TW, Newcome HB, Lowry RB (1988) Genetic disorders in children and young adults: A population study. Am J Hum Genet 42:677–793.

    Google Scholar 

  • Baird PA, McGillivray B (1982) Children of incest. J Pediatr 101:854–857. Baker DL, Schuette JL, Uhlmann WR (eds) (1998) A Guide to Genetic Counseling. New York: Wiley-Liss, p 24.

    Google Scholar 

  • Bear JC, Nemee TF, Kennedy JC, Marshall WH, Power AA, Kolonel VM, Burke GB (1988) Inbreeding in Outport Newfoundland. Am J Med Genet 29:649–660.

    Google Scholar 

  • Bell J (1859) The effects of the consanguinity of parents upon the mental constitution of the offspring. Boston Med Surg J 60:473–484.

    Google Scholar 

  • Bennett RL (1999) The Practical Guide to the Genetic Family History. New York: Wiley Liss.

    Google Scholar 

  • Bennett RL, Hudgins L, Smith CO, Motulsky AG (1999) Inconsistencies in genetic counseling and screening for consanguineous couples and their offspring: The need for practice guidelines. Genet Med 1:286–292.

    Google Scholar 

  • Bennett RL, Steinhaus KA, Uhrich SB, O'sullivan CK, Resta RG, Lochner Doyle D, Markel DS, Vincent V, Haminishi J (1995) Recommendations for standardized pedigree nomenclature. Am J Hum Genet 56:745–752.

    Google Scholar 

  • Bittles AH (1998) Empirical Estimates of the Global Prevalence of Consanguineous Marriage in Contemporary Societies. Stanford, CA: Morrison Institute for Population and Resources Studies,Stanford University.

    Google Scholar 

  • Bittles AH (2001) Consanguinity and its relevance to clinical genetics. Clin Genet 60:89–98.

    Google Scholar 

  • Bittles AH (in press) Genetic aspects of inbreeding and incest. In: Durham W, Wolf A (eds) Incest, Inbreeding, and the Knowledge at the Turn of the Century. Stanford, CA: Stanford University Press.

  • Bittles AH, Mason WM, Green J, Rao NA (1991) Reproductive behavior and health in consanguineous marriages. Science 252:789–794.

    Google Scholar 

  • Bittles AH, Neel JV (1994) The costs of human inbreeding and their implications for variations at the DNA level. Nat Genet 8:117–121.

    Google Scholar 

  • Brown JS (1951) Social class, intermarriage, and church membership in a Kentucky community. Am J Sociol 57:232–242.

    Google Scholar 

  • Carter CO (1967) Children of incest. Lancet i:436.

    Google Scholar 

  • Committee on Practice and Ambulatory Medicine, American Academy of Pediatrics (2000) Recommendations for preventive pediatric health care (RE9535). AAP News, March, p 23.

  • Damon LL, Card JA (1999) Incest in young children. In: Ammermann RT, Hersen M(eds) Assessment of Family Violence. A Clinical and Legal Sourcebook, 2nd edn. New York: Wiley.

    Google Scholar 

  • De Braekeleer M, Ross M (1991) Inbreeding in Saquenay-Lac-St-Jean (Quebec, Canada): A study of Catholic Church dispensations. Hum Hered 41:379–384.

    Google Scholar 

  • Demirel S, Kaplanoglu N, Acar A, Bodur S, Paydak F (1997) The frequency of consanguinity inKonya, Turkey, and its medical effects. Genet Counsel 8:295–301.

    Google Scholar 

  • Devoto M, Prosperi L, Bricarelli FG, Coviello DA, Croci G, Zelante L, Ferranti G, Tenconi R, Stomeo C, Romeo G (1985) Frequency of consanguineous marriages among parents and grandparents of Down patients. Hum Genet 70:256–258.

    Google Scholar 

  • Dewey WJ, Barrai I, Morton NE, Mi M (1965) Recessive genes in severe mental defect. Am J Hum Genet 17:237–256.

    Google Scholar 

  • Drosten LE, Hotchkiss L, King TM (1999) The effect of inbreeding on early childhood mortality: Twelve generations of an Amish settlement.Demography 36:263–271.

    Google Scholar 

  • Economides DL, Whitlow BJ, Braithwaite JM (1999) Ultrasonography in the detection of fetal anomalies in early pregnancy. Br J Obstet Gynec 106:516–523.

    Google Scholar 

  • Freire-Maia N (1968) Inbreeding levels in American and Canadian populations: A comparison with Latin America. Eugenics Q 15:22–33.

    Google Scholar 

  • Grody WW, Cutting GR, Klinger KW, Richard CS, Watson M, Desnick RJ (2001) Laboratory standards and guidelines for population-based cystic fibrosis carrier screening. Genet Med 3: 149–154.

    Google Scholar 

  • Hall JG (1978) Children of incest: When to suspect and how to evaluate? [letter] Am J Dis Child 10:1045.

    Google Scholar 

  • Hallowell N, Murton F (1998) The value of written summaries of genetic consultations. Patient Educ Couns 35:27–34.

    Google Scholar 

  • Hamamy HA, Al-Hakkak ZS, Al-Taha S (1990) Consanguinity and the genetic control of Down syndrome. Clin Genet 37:24–29.

    Google Scholar 

  • Harper PS (1998) Practical Genetic Counseling, 5th edn. Oxford: Butterworth-Heinmann.

    Google Scholar 

  • Hussain R (1999) Community perceptions of reasons for preference for consanguineous marriages in Pakistan. J Biosoc Sci 31:449–461.

    Google Scholar 

  • Jaber L, Halpern G, Shohat M (1998) The impact of consanguinity worldwide. Community Genet 1:12–17.

    Google Scholar 

  • Jaber L, Shohat T, Rotter JI, Shohat M (1997) Consanguinity and common adult diseases in Israeli Arab communities. Am J Med Genet 70:346–348.

    Google Scholar 

  • Jorde (2001) Consanguinity and prereproductive mortality in the Utah Mormon population. Hum Hered 52:61–65.

    Google Scholar 

  • Kaku M, Freire-Maia N(1992) Inbreeding effect on morbidity: IV. Further data in Brazilian populations. Am J Med Genet 42:420–423.

    Google Scholar 

  • Lebel RR (1983) Consanguinity studies in Wisconsin: I. Secular trends in consanguineous marriages, 1843-1981. Am J Med Genet 15:543–560.

    Google Scholar 

  • Leppig KA, Werler MM, Cann CI, Cook CA, Holmes LB (1987) Predictive value of minor anomalies: I. Association with major malformations. J Pediatr 110:530–537.

    Google Scholar 

  • Maddock JW, Larson NR (1995) Incestuous Families: An Ecological Approach to Understanding and Treatment. New York: WW Norton.

    Google Scholar 

  • Madhaven T, Narayan J (1991) Consanguinity and mental retardation. J Ment Def Res 35:132–133.

    Google Scholar 

  • McConkie-Rosell A, DeVellis BM (2000) Threat to parental role: A possible mechanism of altered self-concept related to carrier knowledge. J Genet Couns 9:285–302.

    Google Scholar 

  • Moore MJ (1987) Inbreeding and reproductive parameters among Mennonites in Kansas. Soc Biol 34:180–186.

    Google Scholar 

  • Ottenheimer M (1996) Forbidden Relatives: The American Myth of Cousin Marriage. Chicago: University of Illinois Press.

    Google Scholar 

  • Panter-Brick C (1991) Parental responses to consanguinity and genetic disease in Saudi Arabia. Soc Sci Med 33:1295–1302.

    Google Scholar 

  • Rashed M, Ozand PT, Bucknall MP, Little D (1995) Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. Ped Res 38:324–331.

    Google Scholar 

  • Resta RG (ed) (2000) Psyche and Helix: Psychological Aspects of Genetic Counseling; Essays by Seymour Kessler. New York: Wiley-Liss.

    Google Scholar 

  • Schull WJ, Neel JV (1965) The Effects of Inbreeding on Japanese Children. New York: Harper and Row.

    Google Scholar 

  • Schull WJ, Neel JV (1972) The effects of parental consanguinity and inbreeding in Hirado, Japan: V. Summary and interpretation. Am J Hum Genet 24:425–453.

    Google Scholar 

  • Schwarzler P, Senat MV, Holden D, Bernard JP, Masroor T, Ville Y (1999) Feasibility of the secondtrimester fetal ultrasound examination in an unselected population at 18, 20 or 22 weeks of pregnancy: A randomized trial. Ultrasound Obstet Gynecol 14:92–97.

    Google Scholar 

  • Seemanova E (1971) A study of children of incestuous matings. Hum Hered 21:108–128.

    Google Scholar 

  • Shami SA, Qaisar R, Bittles AH (1991) Consanguinity and adult morbidity in Pakistan. Lancet 338: 954–955.

    Google Scholar 

  • Shiloh S, Reznik H, Bat-Miriam-Katznelson M, Goldman B (1995) Pre-marital genetic counseling to consanguineous couples: Attitudes, beliefs and decisions among counseled, noncounseled and unrelated couples in Israel. Soc Sci Med 41:1301–1310.

    Google Scholar 

  • Spence MA, Hodge SE (2000) The “circular” problems of calculating risk: Dealing with consanguinity. J Genet Couns 9:179–201.

    Google Scholar 

  • Stoltenberg C, Magnus P, Lie RT, Daltveit AK, Irgens LM (1997) Birth defects and parental consanguinity in Norway. Am J Epidemiol 145:439–448.

    Google Scholar 

  • Stoltenberg C, Magnus P, Skrondal A, TerjeLie R (1999) Consanguinity and recurrence risk of birth defects: A population-based study. Am J Med Genet 82:423–428.

    Google Scholar 

  • Ten Kate LP, Scheffer H, Cornel MC, van Lookeren Campagne JG (1991) Consanguinity sans reproche. Hum Genet 86:295–296.

    Google Scholar 

  • Thomas JD, Doucette MA, Thomas DC, Stoeckle JD (1987) Disease, lifestyle and consanguinity in 58 American Gypsies. Lancet ii:377–379.

    Google Scholar 

  • U.S. Department of Health and Human Services (2001) Using tandem mass spectrometry for metabolic disease screening among newborns. A report of a work group. MMWR 50:RR-3. Available at www.cdc.gov/mmwr rr.html.

  • U.S. Preventive Services Task Force, Chairman Harold C Sox Jr (1995) Guide to Clinical Preventive Services, 2nd edn. (Appendix A). Washington, DC: U.S. Government Printing Office. Stock No 017001005158.

    Google Scholar 

  • Vogel F, Motulsky AG (1996) Human Genetics, Problems and Approaches, 3rd edn. Berlin: Springer.

    Google Scholar 

  • Weil J (2000) Psychosocial Genetic Counseling. Oxford: Oxford University Press.

    Google Scholar 

  • Whetsell-Mitchell J (1995) Rape of the Innocent: Understanding and Preventing Child Sexual Abuse.Washington, DC: Accelerated Development.

    Google Scholar 

  • Wilcox LS, Marks JS (eds) (1999) From Data to Action. CDC's Public Health Surveillance forWomen, Infants, and Children. U.S. Dept. of Health and Human Services/Public Health Service Centers for Disease Control and Prevention, Atlanta, GA, p 217.

    Google Scholar 

  • Willems PJ (2000) Genetic causes of hearing loss. N Engl J Med 342:1101–1109.

    Google Scholar 

  • Young ID (1999) Introduction to Risk Calculation in Genetic Counseling, 2nd edn. Oxford: Oxford University Press.

    Google Scholar 

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Authors and Affiliations

  1. Department of Medicine, Division of Medical Genetics, University of Washington, Seattle, Washington

    Robin L. Bennett, Arno G. Motulsky, C. Ronald Scott, Edith Cheng & Debra Olson

  2. Centre for Human Genetics, Edith Cowan University, Perth, Australia

    Alan Bittles

  3. Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, California

    Louanne Hudgins

  4. Department of Obstetrics and Gynecology, Division of Medical Genetics, University of Washington, Seattle, Washington

    Stefanie Uhrich

  5. Genetic Services Section, Washington State Department of Health, Seattle, Washington

    Debra Lochner Doyle

  6. Pacific Northwest Regional Genetics Group, Child Development and Rehabilitation Center, Oregon Health Sciences University, Eugene, Oregon

    Kerry Silvey

  7. Department of Pediatrics, University of Washington, Seattle, Washington

    C. Ronald Scott

  8. Department of Medical Genetics, Children's and Women's Health Centre of British Columbia, Vancouver, British Columbia, Canada

    Barbara McGillivray

  9. Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Doernbecher Children's Hospital, Oregon Health & Science University, Portland, Oregon

    Robert D. Steiner

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  1. Robin L. Bennett
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  2. Arno G. Motulsky
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Correspondence to Robin L. Bennett.

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Bennett, R.L., Motulsky, A.G., Bittles, A. et al. Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 11, 97–119 (2002). https://doi.org/10.1023/A:1014593404915

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