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Noninvasive Prenatal Testing - When Is It Advantageous to Apply

Liehr T.a · Lauten A.b · Schneider U.b · Schleussner E.b · Weise A.a

Author affiliations

aInstitute of Human Genetics and bClinic for Obstetrics and Gynecology, Jena University Hospital, Friedrich Schiller University, Jena, Germany

Corresponding Author

Dr. Thomas Liehr

Institut für Humangenetik


DE-07740 Jena (Germany)

E-Mail Thomas.Liehr@med.uni-jena.de

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Nowadays it is common sense in obstetrics that an increased risk for pregnancy loss due to invasive testing does not exist. Nonetheless, noninvasive prenatal testing (NIPT) is a hot topic, even though this approach does not provide a reduction of unintentionally induced abortions. NIPT has a number of shortcuts which are highlighted in this review, including: (1) in NIPT placental rather than fetal DNA is studied, (2) NIPT fails in 2-6% of cases, and (3) trisomy 21 accounts for only ∼50% of existing chromosomal aberrations. Thus, we agree with the literature that NIPT is a fascinating possibility to gain information on unborn life from minimal amounts of DNA. However, it remains a pure risk estimation test directed towards the detection of specific chromosomal abnormalities from peripheral blood of the pregnant woman. It is important to highlight that families buying this test, and getting a normal result, may be provided with a false sense of security. Thus, careful and comprehensive genetic counselling should be performed before the test is offered, and should include a clear explanation of the advantages and disadvantages, as well as limitations, compared to other methods.

© 2017 The Author(s) Published by S. Karger AG, Basel


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Article / Publication Details

First-Page Preview
Abstract of Review

Received: October 21, 2016
Accepted: January 27, 2017
Published online: March 04, 2017
Issue release date: January – April

Number of Print Pages: 11
Number of Figures: 3
Number of Tables: 4

eISSN: 2296-6870 (Online)

For additional information: https://www.karger.com/BMH

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