The discovery of cell-free fetal DNA (cffDNA) in maternal blood and the rapid development of
massively parallel sequencing have revolutionized prenatal testing from invasive to …

Noninvasive prenatal screening with cell-free DNA is now considered a first-line screening
for common aneuploidies. Advancements in existing laboratory techniques now allow to …

Objectives We aimed to compare cell‐based NIPT (cbNIPT) to chorionic villus sampling
(CVS) and to examine the test characteristics of cbNIPT in the first clinical validation study of …

Increased sequencing depth can improve the detection rate of noninvasive prenatal testing
(NIPT) for chromosome aneuploidies and copy number variations (CNVs). However, due to …

The risk of chromosomal abnormalities in the child increases with increasing maternal age.
Although non-invasive prenatal testing (NIPT) is a safe and effective prenatal screening …

Purpose To evaluate the clinical performance of expanded non-invasive prenatal testing
(NIPT-plus) in screening for fetal chromosome aneuploidy and copy number variations …

Background Chromosomal abnormalities are the main cause of birth defects in newborns.
Since the inception of noninvasive prenatal testing (NIPT) technology, it has primarily been …

Copy number variation (CNV) is a primary source of structural variation in the human
genome, leading to several disorders. Therefore, analyzing neonatal CNVs is crucial for …

Non-invasive prenatal testing (NIPT) is usually performed beyond 10 weeks of gestation,
because earlier in pregnancy, the fetal fraction is low, resulting in failure to obtain reliable …

Background It remains controversial whether prenatal screening or diagnostic testing should
be offered to fetuses with nasal bone (NB) absence or hypoplasia, and there are no studies …