Initial experience with non-invasive prenatal testing of cell-free DNA for major chromosomal anomalies in a clinical setting

Abstract

NIPT has the potential to be a highly effective screening method for major CA in a clinical setting.

Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis

“…In terms of the first domain on patient selection, only the five studies that were performed in a general population were classified as being at low risk of concerns regarding applicability 50,61,63,64,75 . In terms of the second domain, on index test, all studies classified as being at low risk of bias were also considered to be at low risk of concerns regarding applicability; there were only four papers classified as being at high risk 2,48,60,68 .…”

The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon

“…In a recent meta‐analysis on NIPT, including 37 studies, Gil et al analyzed failure rates: Two studies did not report on any laboratory failures, and 24 others did not specify the reason for failure to obtain a result. Among these, the total laboratory failure rate ranged from as low as 0% to as high as 8.8% for the common trisomies.…”

Has Noninvasive Prenatal Testing (NIPT) Come of Age?

“…The majority (95 %) of pregnancies had a fetal DNA fraction [ 4 %, which is generally the limit for accurate aneuploidy detection by NIPT. Across this early gestational time period, there was a weak inverse relationship (R = 0.186) between fetal DNA fraction and maternal weight [2]. They concluded that NIPT is highly reliable and accurate when applied to maternal DNA samples collected from pregnant women in the first trimester between 8 and 12 weeks [12].…”

“…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.…”