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Genetic diagnosis in early pregnancy

The availability of cell-free fetal DNA (cffDNA) non-invasive prenatal analysis for aneuploidy presents a paradigm shift, since it changes the algorithm of first trimester screening followed by invasive testing. All aspects of current standard protocol are being questioned: Do we still need to measure maternal serum biochemical markers and what is the status of nuchal translucency measurement? Currently, there is no doubt that tests based on cffDNA provide a readily accessible and safe option for prenatal testing from 9 + 0 weeks of gestation onward. The cffDNA analysis is a new promising method with high sensitivity and specificity for the prediction of fetal aneuploidy, particularly for trisomy 21 and 18, when used as an advanced screening method in high-risk pregnancies. This new technology has the potential to reduce the number of invasive procedures (CVS, AC) markedly, with their associated risk of fetal loss. Further studies have to prove the use of cffDNA as a primary screening test for trisomy 13 in high-risk pregnancies and especially its implementation into general screening protocols for fetal aneuploidy in low-risk women.

Currently, in Germany there are three companies offering non-invasive screening tests: PraenaTest® (LifeCodexx AG, Konstanz, Germany) using shotgun massive parallel sequencing (s-MPS), HarmonyTM Prenatal Test (Ariosa, San Jose, CA, USA) using targeted MPS, and PanoramaTM Prenatal Test (Natera, San Carlos, CA, USA) using single nucleotid polymorphism (SNP) technology which compares genetic loci on the mix of maternal and fetal DNA from maternal serum. The challenge now is to implement this new technique into clinical practice that is accessible to all women in early first trimester and in an medical and especially ethical way that preserves informed parental choice, while not exceed the total costs to the healthcare sector.

CME Prakt Fortbild Gynakol Geburtsmed Gynakol Endokrinol 2014; 10(1): 34–47

Non-invasive prenatal diagnosis, NIPD, NIPT, cell-free fetal DNA, fetal aneuploidy

Arne M. Willruth
Abteilung für Geburtshilfe und Pränatale Medizin,
Universitätsklinikum Bonn
Reviewer: Peter Kozlowski, Düsseldorf,
und Boris Tutschek, Frankfurt

Willruth A. M. Genetische ... Gynakol Geburtsmed Gynakol Endokrinol 2014; 10(1): 34–47 publiziert 31.03.2014 ©akademos Wissenschaftsverlag 2014 ISSN 1614-8533