5. Genetic Screening for Mendelian Disorders

  1. John T. Queenan MD2,
  2. Catherine Y. Spong MD3 and
  3. Charles J. Lockwood MD4
  1. Deborah A. Driscoll MD

Published Online: 4 JAN 2012

DOI: 10.1002/9781119963783.ch5

Queenan's Management of High-Risk Pregnancy: An Evidence-Based Approach, Sixth Edition

Queenan's Management of High-Risk Pregnancy: An Evidence-Based Approach, Sixth Edition

How to Cite

Driscoll, D. A. (2012) Genetic Screening for Mendelian Disorders, in Queenan's Management of High-Risk Pregnancy: An Evidence-Based Approach, Sixth Edition (eds J. T. Queenan, C. Y. Spong and C. J. Lockwood), Wiley-Blackwell, Oxford, UK. doi: 10.1002/9781119963783.ch5

Editor Information

  1. 2

    Department of Obstetrics and Gynecology, Georgetown University School of Medicine, Washington, DC, USA

  2. 3

    Bethesda, MD, USA

  3. 4

    Department of Obstetrics, Gynecology and Reproductive Sciences, Yale University School of Medicine, New Haven, CT, USA

Author Information

  1. Department of Obstetrics and Gynecology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, USA

Publication History

  1. Published Online: 4 JAN 2012
  2. Published Print: 24 FEB 2012

ISBN Information

Print ISBN: 9780470655764

Online ISBN: 9781119963783



  • genetic screening for mendelian disorders;
  • couples at risk, offspring with inherited conditions;
  • Tay–Sachs, sickle cell, cystic fibrosis, hemoglobinopathies;
  • genetic disorders, transmission of a mutation;
  • carrier screening, individuals heterozygous;
  • X-linked diseases, Duchenne muscular dystrophy, or hemophilia;
  • DNA-based tests, assessing carrier status;
  • Jewish genetic diseases, autosomal recessive conditions;
  • carrier screening for Fanconi anemia type C, fetus with absent radius;
  • newborn screening


Genetic screening to identify couples at risk for having offspring with inherited conditions such as Tay–Sachs disease, sickle cell disease, and cystic fibrosis has been integrated into obstetric practice. The number of genetic conditions for which carrier screening and genetic testing is available has increased as a result of the Human Genome Project and advances in technology. Further, the demand for genetic screening and testing has increased. The decision to offer population-based genetic screening is complex. Factors to consider include disease prevalence and carrier frequency; nature and severity of the disorder; options for treatment; intervention and prevention; availability of a sensitive and specific screening and diagnostic test; positive predictive value of the test; and cost. Care must be taken to avoid the potential for psychological harm to the patient and the misuse of genetic information and possible discrimination. Successful implementation of genetic screening programs requires adequate educational materials for providers and patients and genetic counseling services. This chapter reviews mendelian inheritance, indications for genetic screening, and the current carrier screening guidelines for common genetic disorders.