Abstract
Clinical experience with noninvasive prenatal testing in Germany: Analysis of over 500 high-risk cases for trisomy 21, 18, 13 and monosomy X
Highlights
Noninvasive Prenatal Testing (NIPT) is a molecular genetic test that can determine whether a pregnancy is at high-risk for the common aneuploidies by analyzing circulating cell-free fetal DNA present in maternal plasma
NIPT for trisomy 21, 18, and 13 as well as fetal sex and sex chromosome aberrations has been rapidly adopted into clinical practice worldwide
NIPT in Germany, Austria, and Switzerland is regulated by a number of professional societies, including the German Society of Human Genetics [4,5], the German Society for Ultrasound in Medicine (DEGUM), Austrian Society for Ultrasound in Medicine (ÖGUM), Swiss Society for Ultrasound in Medicine (SGUM), and Fetal Medicine Foundation (FMF) Germany [6,7]
Summary
Noninvasive Prenatal Testing (NIPT) is a molecular genetic test that can determine whether a pregnancy is at high-risk for the common aneuploidies (trisomy 21, trisomy 18, trisomy 13, and sex chromosome aneuploidies) by analyzing circulating cell-free fetal DNA (cfDNA) present in maternal plasma. Since that time there have been significant advantages in next-generation sequencing technology as well as the bioinformatics needed for analysis of sequencing results. These changes and commercialization of the cfDNA technology enabled the implementation of NIPT in a clinical setting close to a decade ago. This method initiated a revolution in prenatal testing: a move away from invasive options, such as amniocentesis and chorionic villus sampling (CVS), towards noninvasive prenatal screening
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