Pocket facts: Preconception and prenatal genetic screening

During preconception and prenatal care checkups, providers have several screening and testing options available for women and their families. The March of Dimes Preconception and Prenatal Genetic Screening Pocket Facts describes widely used screening methods and data for certain birth defects:

Ordering pocket facts

To order, go to the genetics section of our online product catalog.

References

The following references are cited in the pocket facts:

Cystic fibrosis

  1. Cystic Fibrosis Mutation Database (CFMD)/CFTRI Team. (2011). CFMDB statistics.
  2. Amos, J., Feldman, G.L., Grody, W.W., Monaghan, K., Palomaki, G.E., Prior, T.W. et al. (2006). American college of medical genetics technical standards and guidelines for CFTR mutation testing.
  3. Langfelder-Schwind, E., Kloza, E., Sugarman, E., Pettersen, B., Brown, T., Jensen, K. et al. (2005). Cystic fibrosis prenatal screening in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, Feb, 14(1):1-15.
  4. American College of Obstetricians and Gynecologists (ACOG). (2011). Update on carrier screening for cystic fibrosis. (ACOG committee opinion No. 486).
  5. Palomaki, G.E., FitzSimmons, S.C. & Haddow, J.E. (2004). Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med, Sep-Oct, 6(5):405014.

Hemoglobinopathies

  1. American College of Obstetricians and Gynecologists (ACOG). (2005). Clinical management guidelines for obstetrician-gynecologists. (ACOG practice bulletin. No. 64). Obstet Gynecol. July, 106(1):203-10.
  2. Genetic Home Reference: Your guide to understanding genetic conditions. (2012).
  3. Cao, A., Rosatelli, M.C., Monni, G. & Galanello, R. (2002). Screening for thalassemia: A model of success. Obstet Gynecol Clin North Amer, Jun, 29(2):305-28.

Conditions more common in the Eastern European Jewish population

  1. American College of Obstetricians and Gynecologists (ACOG ). (2009). Preconception and prenatal carrier screening for genetic diseases in individuals of eastern European Jewish descent. (ACOG committee opinion No. 442).
  2. American College of Obstetricians and Gynecologists (ACOG ). (2005). Screening for Tay-Sachs disease. (ACOG committee opinion. No. 318.)
  3. American College of Obstetricians and Gynecologists (ACOG ). (2011). Update on carrier screening for cystic fibrosis (ACOG committee opinion No. 486).
  4. American College of Obstetricians and Gynecologists (ACOG). (1998). Screening for canavan disease. (ACOG committee opinion. No. 212). Int J Gynaecol Obstet, 1999 Apr, 65(1):91-2.
  5. Gross, S.J., Pletcher, B.A. & Monaghan, K.G. (2008). Carrier screening in individuals of Ashkenazi Jewish descent. (American College of Medical Genetics practice guidelines).
  6. Kaback, M.M. & Desnick, R.J. (1999, updated 2011 Aug.). Hexosaminidase a deficiency. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  7. Langfelder-Schwind, E., Kloza, E., Sugarman, E., Pettersen, B., Brown, T., Jensen, K. et al. (2005). Cystic fibrosis prenatal screening in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, Feb, 14(1):1-15.
  8. Matalon, R. & Michals-Matalon, K. (1999, updated 2011 Aug.). Canavan disease. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™ . Seattle, WA: University of Washington.
  9. Shohat, M. & Halpern, G.J. (2003, updated 2010 June). Familial dysautonomia. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  10. Chicago Center for Jewish Genetic Disorders. (2008). Niemann-Pick disease.
  11. Chicago Center for Jewish Genetic Disorders. (2008). Fanconi anemia.
  12. Alter, B.P. & Kupfer, G. (2002, updated 2011 Nov). Fanconi anemia. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  13. Sanz, M.M. & German, J. (2006, updated 2010 Aug). Bloom's syndrome. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  14. Chicago Center for Jewish Genetic Disorders.(2008). Bloom's syndrome.
  15. Chicago Center for Jewish Genetic Disorders. (2008). Gaucher disease.
  16. Pastores, G.M. & Hughes, D.A. (2000, updated 2011 July). Gaucher disease. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  17. Chicago Center for Jewish Genetic Disorders. (2008). Mucolipidosis IV.
  18. Schiffmann, R., Slaugenhaupt, S.A., Smith, J. & Goldin, E. (2005, updated 2010 July). Mucolipidosis IV. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.

Fragile X

  1. Crawford, D.C., Acuña, J.M. & Sherman, S.L. (2001). FMR1 and the fragile X syndrome: Human genome epidemiology review. Genet Med. Sep-Oct, 3(5):359-71.
  2. McConkie-Rosell, A., Finucane, B., Cronister, A., Abrams, L., Bennett, R.L. & Pettersen, B.J. (2005). J Genet Couns, Aug, 14(4):249-70.
  3. Nolin, S.L., Brown, W.T., Glicksman, A., Houck, G.E., Jr., Gargano, A.D., Sullivan, A., et al. (2003). Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet, Feb, 72(2), PMC379237.
  4. Kronquist, K.E., Sherman, S.L. & Spector, E.B. (2008). Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines. Genet Med, Nov, 10(11):845-7.
  5. American College of Obstetricians and Gynecologists (ACOG). (2010). Carrier screening for fragile X syndrome. (ACOG committee opinion No. 469).
  6. Sherman, S., Pletcher, B.A. & Driscoll, D.A. (2005). Fragile X syndrome: Diagnostic and carrier testing (.PDF, 84KB). (American College of Medical Genetics practice guidelines).

Screening for and diagnosis of fetal abnormalities during the prenatal period

  1. American College of Obstetricians and Gynecologists (ACOG). (2007). Screening for
    fetal chromosomal abnormalities. (ACOG practice bulletin No. 77). Obstet Gynecol, 109(1):217-27.
  2. American College of Obstetricians and Gynecologists (ACOG). (2007). (ACOG practice bulletin No. 88). Invasive prenatal testing for aneuploidy. Obstet Gynecol, 110(6):1459-67.
  3. Genetic Home Reference: Your guide to understanding genetic conditions. (2012).
  4. Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R. et al. (2005). First- trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med, 10, 353(19):2001-11.

Funding information

Funding for this web page is supported by Novartis Vaccines and Diagnostics. Novartis Vaccines and Diagnostics and the March of Dimes are working together to address the need for professional education for obstetricians, family physicians, nurses, nurse practitioners, certified nurse-midwives and genetic counselors to enhance their use of family history as a risk assessment tool for genetic conditions, such as birth defects, and improve their communication skills when speaking with their patients about prenatal screening and diagnosis.

The March of Dimes recommends that primary care clinicians receive education on how to offer genetic testing and screening to their patients and provide non-directive information that enables their patients, as prospective parents, to make decisions that are right for them as individuals, based on the patients’ own informed understanding of both the nature and extent of risk to pregnancy outcome. The March of Dimes does not endorse specific brands or products.


Last reviewed: August, 2012

During preconception and prenatal care checkups, providers have several screening and testing options available for women and their families. The March of Dimes Preconception and Prenatal Genetic Screening Pocket Facts describes widely used screening methods and data for certain birth defects:

Ordering pocket facts

To order, go to the genetics section of our online product catalog.

References

The following references are cited in the pocket facts:

Cystic fibrosis

  1. Cystic Fibrosis Mutation Database (CFMD)/CFTRI Team. (2011). CFMDB statistics.
  2. Amos, J., Feldman, G.L., Grody, W.W., Monaghan, K., Palomaki, G.E., Prior, T.W. et al. (2006). American college of medical genetics technical standards and guidelines for CFTR mutation testing.
  3. Langfelder-Schwind, E., Kloza, E., Sugarman, E., Pettersen, B., Brown, T., Jensen, K. et al. (2005). Cystic fibrosis prenatal screening in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, Feb, 14(1):1-15.
  4. American College of Obstetricians and Gynecologists (ACOG). (2011). Update on carrier screening for cystic fibrosis. (ACOG committee opinion No. 486).
  5. Palomaki, G.E., FitzSimmons, S.C. & Haddow, J.E. (2004). Clinical sensitivity of prenatal screening for cystic fibrosis via CFTR carrier testing in a United States panethnic population. Genet Med, Sep-Oct, 6(5):405014.

Hemoglobinopathies

  1. American College of Obstetricians and Gynecologists (ACOG). (2005). Clinical management guidelines for obstetrician-gynecologists. (ACOG practice bulletin. No. 64). Obstet Gynecol. July, 106(1):203-10.
  2. Genetic Home Reference: Your guide to understanding genetic conditions. (2012).
  3. Cao, A., Rosatelli, M.C., Monni, G. & Galanello, R. (2002). Screening for thalassemia: A model of success. Obstet Gynecol Clin North Amer, Jun, 29(2):305-28.

Conditions more common in the Eastern European Jewish population

  1. American College of Obstetricians and Gynecologists (ACOG ). (2009). Preconception and prenatal carrier screening for genetic diseases in individuals of eastern European Jewish descent. (ACOG committee opinion No. 442).
  2. American College of Obstetricians and Gynecologists (ACOG ). (2005). Screening for Tay-Sachs disease. (ACOG committee opinion. No. 318.)
  3. American College of Obstetricians and Gynecologists (ACOG ). (2011). Update on carrier screening for cystic fibrosis (ACOG committee opinion No. 486).
  4. American College of Obstetricians and Gynecologists (ACOG). (1998). Screening for canavan disease. (ACOG committee opinion. No. 212). Int J Gynaecol Obstet, 1999 Apr, 65(1):91-2.
  5. Gross, S.J., Pletcher, B.A. & Monaghan, K.G. (2008). Carrier screening in individuals of Ashkenazi Jewish descent. (American College of Medical Genetics practice guidelines).
  6. Kaback, M.M. & Desnick, R.J. (1999, updated 2011 Aug.). Hexosaminidase a deficiency. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  7. Langfelder-Schwind, E., Kloza, E., Sugarman, E., Pettersen, B., Brown, T., Jensen, K. et al. (2005). Cystic fibrosis prenatal screening in genetic counseling practice: Recommendations of the National Society of Genetic Counselors. J Genet Couns, Feb, 14(1):1-15.
  8. Matalon, R. & Michals-Matalon, K. (1999, updated 2011 Aug.). Canavan disease. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™ . Seattle, WA: University of Washington.
  9. Shohat, M. & Halpern, G.J. (2003, updated 2010 June). Familial dysautonomia. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  10. Chicago Center for Jewish Genetic Disorders. (2008). Niemann-Pick disease.
  11. Chicago Center for Jewish Genetic Disorders. (2008). Fanconi anemia.
  12. Alter, B.P. & Kupfer, G. (2002, updated 2011 Nov). Fanconi anemia. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  13. Sanz, M.M. & German, J. (2006, updated 2010 Aug). Bloom's syndrome. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  14. Chicago Center for Jewish Genetic Disorders.(2008). Bloom's syndrome.
  15. Chicago Center for Jewish Genetic Disorders. (2008). Gaucher disease.
  16. Pastores, G.M. & Hughes, D.A. (2000, updated 2011 July). Gaucher disease. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.
  17. Chicago Center for Jewish Genetic Disorders. (2008). Mucolipidosis IV.
  18. Schiffmann, R., Slaugenhaupt, S.A., Smith, J. & Goldin, E. (2005, updated 2010 July). Mucolipidosis IV. In: R.A. Pagon, T.D. Bird, C.R. Dolan, K. Stephens & M.P. Adam (Eds.). GeneReviews™. Seattle, WA: University of Washington.

Fragile X

  1. Crawford, D.C., Acuña, J.M. & Sherman, S.L. (2001). FMR1 and the fragile X syndrome: Human genome epidemiology review. Genet Med. Sep-Oct, 3(5):359-71.
  2. McConkie-Rosell, A., Finucane, B., Cronister, A., Abrams, L., Bennett, R.L. & Pettersen, B.J. (2005). J Genet Couns, Aug, 14(4):249-70.
  3. Nolin, S.L., Brown, W.T., Glicksman, A., Houck, G.E., Jr., Gargano, A.D., Sullivan, A., et al. (2003). Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am J Hum Genet, Feb, 72(2), PMC379237.
  4. Kronquist, K.E., Sherman, S.L. & Spector, E.B. (2008). Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines. Genet Med, Nov, 10(11):845-7.
  5. American College of Obstetricians and Gynecologists (ACOG). (2010). Carrier screening for fragile X syndrome. (ACOG committee opinion No. 469).
  6. Sherman, S., Pletcher, B.A. & Driscoll, D.A. (2005). Fragile X syndrome: Diagnostic and carrier testing (.PDF, 84KB). (American College of Medical Genetics practice guidelines).

Screening for and diagnosis of fetal abnormalities during the prenatal period

  1. American College of Obstetricians and Gynecologists (ACOG). (2007). Screening for
    fetal chromosomal abnormalities. (ACOG practice bulletin No. 77). Obstet Gynecol, 109(1):217-27.
  2. American College of Obstetricians and Gynecologists (ACOG). (2007). (ACOG practice bulletin No. 88). Invasive prenatal testing for aneuploidy. Obstet Gynecol, 110(6):1459-67.
  3. Genetic Home Reference: Your guide to understanding genetic conditions. (2012).
  4. Malone, F.D., Canick, J.A., Ball, R.H., Nyberg, D.A., Comstock, C.H., Bukowski, R. et al. (2005). First- trimester or second-trimester screening, or both, for Down's syndrome. N Engl J Med, 10, 353(19):2001-11.

Funding information

Funding for this web page is supported by Novartis Vaccines and Diagnostics. Novartis Vaccines and Diagnostics and the March of Dimes are working together to address the need for professional education for obstetricians, family physicians, nurses, nurse practitioners, certified nurse-midwives and genetic counselors to enhance their use of family history as a risk assessment tool for genetic conditions, such as birth defects, and improve their communication skills when speaking with their patients about prenatal screening and diagnosis.

The March of Dimes recommends that primary care clinicians receive education on how to offer genetic testing and screening to their patients and provide non-directive information that enables their patients, as prospective parents, to make decisions that are right for them as individuals, based on the patients’ own informed understanding of both the nature and extent of risk to pregnancy outcome. The March of Dimes does not endorse specific brands or products.


Last reviewed: August, 2012