Down syndrome risk factors

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Syed Hassan A. Kazmi BSc, MD [2]

Overview

Common risk factors involved in the development of Down syndrome include maternal smoking, increased maternal age, impaired recombination of chromosome 21, impaired folate metabolism and oral contraceptive pills (OCPs). Less common risk factors leading to the development of Down syndrome include genomic instability in mothers, radiation exposure, low socioeconomic status and maternal obesity.

Risk factors

The following are the risk factors for developing Down syndrome:

Common risk factors

Common risk factors in the mother leading to the development of Down syndrome include the following:^[1]^[2]^[3]^[4]^[5]^[6]^[7]

Smoking during pregnancy
Increased maternal age
Impaired recombination of chromosome 21
Impaired folate metabolism
Oral contraceptive pills (OCPs)

Less common risk factors

Less common risk factors involved in the development of Down syndrome include the following:^[8]

Genomic instability in mothers of Down syndrome patients
Radiation exposure
Low socioeconomic status
Maternal obesity

References

↑ Morris JK, Mutton DE, Alberman E (2002). “Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome”. J Med Screen. 9 (1): 2–6. doi:10.1136/jms.9.1.2. PMID 11943789.
↑ Yang Q, Sherman SL, Hassold TJ, Allran K, Taft L, Pettay D, Khoury MJ, Erickson JD, Freeman SB (1999). “Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study”. Genet. Med. 1 (3): 80–8. doi:10.1097/00125817-199903000-00004. PMID 11336457.
↑ Ghosh S, Hong CS, Feingold E, Ghosh P, Ghosh P, Bhaumik P, Dey SK (November 2011). “Epidemiology of Down syndrome: new insight into the multidimensional interactions among genetic and environmental risk factors in the oocyte”. Am. J. Epidemiol. 174 (9): 1009–16. doi:10.1093/aje/kwr240. PMID 21957181.
↑ Sperling K, Neitzel H, Scherb H (January 2012). “Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident”. Genet. Epidemiol. 36 (1): 48–55. doi:10.1002/gepi.20662. PMID 22162022.
↑ Hunter JE, Allen EG, Shin M, Bean LJ, Correa A, Druschel C, Hobbs CA, O’Leary LA, Romitti PA, Royle MH, Torfs CP, Freeman SB, Sherman SL (September 2013). “The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project”. Genet. Med. 15 (9): 698–705. doi:10.1038/gim.2013.34. PMC 4122862. PMID 23558253.
↑ Alverson CJ, Strickland MJ, Gilboa SM, Correa A (March 2011). “Maternal smoking and congenital heart defects in the Baltimore-Washington Infant Study”. Pediatrics. 127 (3): e647–53. doi:10.1542/peds.2010-1399. PMID 21357347.
↑ Bergström S, Carr H, Petersson G, Stephansson O, Bonamy AK, Dahlström A, Halvorsen CP, Johansson S (July 2016). “Trends in Congenital Heart Defects in Infants With Down Syndrome”. Pediatrics. 138 (1). doi:10.1542/peds.2016-0123. PMID 27252035.
↑ Hildebrand E, Källén B, Josefsson A, Gottvall T, Blomberg M (April 2014). “Maternal obesity and risk of Down syndrome in the offspring”. Prenat. Diagn. 34 (4): 310–5. doi:10.1002/pd.4294. PMID 24327477.

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[pmid11943789-1] Morris JK, Mutton DE, Alberman E (2002). “Revised estimates of the maternal age specific live birth prevalence of Down’s syndrome”. J Med Screen. 9 (1): 2–6. doi:10.1136/jms.9.1.2. PMID 11943789.

[pmid11336457-2] Yang Q, Sherman SL, Hassold TJ, Allran K, Taft L, Pettay D, Khoury MJ, Erickson JD, Freeman SB (1999). “Risk factors for trisomy 21: maternal cigarette smoking and oral contraceptive use in a population-based case-control study”. Genet. Med. 1 (3): 80–8. doi:10.1097/00125817-199903000-00004. PMID 11336457.

[pmid21957181-3] Ghosh S, Hong CS, Feingold E, Ghosh P, Ghosh P, Bhaumik P, Dey SK (November 2011). “Epidemiology of Down syndrome: new insight into the multidimensional interactions among genetic and environmental risk factors in the oocyte”. Am. J. Epidemiol. 174 (9): 1009–16. doi:10.1093/aje/kwr240. PMID 21957181.

[pmid22162022-4] Sperling K, Neitzel H, Scherb H (January 2012). “Evidence for an increase in trisomy 21 (Down syndrome) in Europe after the Chernobyl reactor accident”. Genet. Epidemiol. 36 (1): 48–55. doi:10.1002/gepi.20662. PMID 22162022.

[pmid23558253-5] Hunter JE, Allen EG, Shin M, Bean LJ, Correa A, Druschel C, Hobbs CA, O’Leary LA, Romitti PA, Royle MH, Torfs CP, Freeman SB, Sherman SL (September 2013). “The association of low socioeconomic status and the risk of having a child with Down syndrome: a report from the National Down Syndrome Project”. Genet. Med. 15 (9): 698–705. doi:10.1038/gim.2013.34. PMC 4122862. PMID 23558253.

[pmid21357347-6] Alverson CJ, Strickland MJ, Gilboa SM, Correa A (March 2011). “Maternal smoking and congenital heart defects in the Baltimore-Washington Infant Study”. Pediatrics. 127 (3): e647–53. doi:10.1542/peds.2010-1399. PMID 21357347.

[pmid27252035-7] Bergström S, Carr H, Petersson G, Stephansson O, Bonamy AK, Dahlström A, Halvorsen CP, Johansson S (July 2016). “Trends in Congenital Heart Defects in Infants With Down Syndrome”. Pediatrics. 138 (1). doi:10.1542/peds.2016-0123. PMID 27252035.

[pmid24327477-8] Hildebrand E, Källén B, Josefsson A, Gottvall T, Blomberg M (April 2014). “Maternal obesity and risk of Down syndrome in the offspring”. Prenat. Diagn. 34 (4): 310–5. doi:10.1002/pd.4294. PMID 24327477.

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