![]() Our aim was to use pregnancy outcome record in an external evaluation of SNP-based NIPT results from a Swiss genetics center (Genetica AG, Zurich, Switzerland). A score ≥ 1/100 is considered as high risk and a score < 1/100 as low risk. Following cfDNA isolation from the maternal plasma, amplification and sequencing, the data of each patient is independently analysed using the NATUS algorithm (Natera ®) providing a precise risk score. Optionally, five microdeletion syndromes (MD) can be analyzed, in particular 22q11.2 deletion (DiGeorge) syndrome, 1p36 deletion syndrome, Prader–Willi syndrome, Angelman syndrome and 5p- (cri du chat syndrome). ![]() This study reports on the Panorama ® test (Natera ® Inc., San Carlos, USA), a targeted SNP-based NIPT technique that screens for the most common fetal chromosomal aberrations (FCA), including trisomies (21, 18 and 13), gonosomal aneuploidy (GAN), triploidy or vanishing twins (VVT). A critical aspect of the NIPT performance and quality has also been confirmed during the last years of experience with this analysis: the ratio of placental cfDNA to maternal cfDNA, known as the fetal fraction (FF), appears to correlate positively with gestational age and negatively with maternal body weight. Each method offers its own advantages, disadvantages and analytical performance, which should be carefully assessed, validated and monitored by the scientific community and test providers. ĭifferent NIPT methods and tests are now available to clinicians, including targeting or nontargeting methods. Noninvasive prenatal testing (NIPT) set a new global standard in human genetics, changing the way in which prenatal medicine was perceived and practised, thereby also taking the ethical debate to new heights. Introduced into clinical practice in late 2011, fetal aneuploidy screening using the analysis of cell-free DNA (cfDNA) in maternal blood soon became confirmed as highly accurate and a method of choice for clinicians and pregnant women.
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