Comments on Editorial: Has Noninvasive Prenatal Testing (NIPT) Come of Age?

Recent advances in genomic sequencing and bioinformatics have led to the development of noninvasive detection methods with detection rates approaching those obtained with amniocentesis and chorionic villus sampling (CVS) [1, 2]. Recently, a novel prenatal testing method has become available. This method, known as noninvasive prenatal testing (NIPT), is a molecular approach for assessing fetal aneuploidy using cell-free fetal deoxyribonucleic acid (cffDNA) from the plasma of pregnant women. NIPT has a false positive rate of about 0.2 % and detection rate of about 98 % for Down syndrome [1, 2]. NIPT has been used for assessing abnormalities such as trisomy 21, trisomy 18, and trisomy 13. Approximately 10–15 % of the cell-free deoxyribonucleic acid (cfDNA) in maternal blood comprises cffDNA [3, 4]. The half-life of cffDNA is short, and it clears from maternal circulation soon after delivery [3]. Hence, there is no risk of fetal DNA persisting from one pregnancy to the next and confounding test results. For women infected with hepatitis B, hepatitis C, and/or human immunodeficiency virus (HIV), the use of noninvasive methods of prenatal risk assessment is recommended, using tests with high sensitivity and low falsepositive rates, such as serum screening combined (or not) with nuchal translucency, anatomic ultrasound, and noninvasive molecular prenatal testing [5]. Among other factors, cost implications for introducing this new technology in clinical practice will need to be considered. Gautam N. Allahbadia is the Medical Director of Rotunda-The Center for Human Reproduction.