Prenatal Diagnostic Testing for Genetic Disorders

  • Kate C. Arnold
  • Caroline J. Flint


Antenatal diagnosis of genetic disorders requires the acquisition of fetal or placental tissue. Invasive procedures are indicated if a fetus is at increased risk for a genetic condition. Risk factors include advanced maternal age, known parental genetic conditions, abnormal aneuploidy screening, soft markers for aneuploidy on ultrasound, and fetal growth restriction [1].


Prenatal diagnosis Aneuploidy Trisomy Down syndrome Amniocentesis CVS 


  1. 1.
    Gabbe SG, Niebyl JR, Simpson JL, Landon MB, Galan HL, Jauniaux ERM, Driscoll DA. Obstetrics: normal and problem pregnancies. Chapter 11. 6th ed. Philadelphia, PA: Elsevier; 2012.Google Scholar
  2. 2.
    American College of Obstetricians and Gynecologists. Practice bulletin no. 162: prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127(5):e108–22.CrossRefGoogle Scholar

Copyright information

© Springer International Publishing AG 2017

Authors and Affiliations

  • Kate C. Arnold
    • 1
  • Caroline J. Flint
    • 1
  1. 1.Department of OB/GYNUniversity of Oklahoma HSCOklahoma CityUSA

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