1 NIPT for fetal aneuploidy screening (chromosomes 13, 18,
2 From a cohort of 125,
426 NIPT results, 3757 (3%) were positive for 1 or more aneu
3 used in our standard pipeline for
aneuploidy NIPT detected 15/18 (83%) samples with pathogenic rearra
4 s among 39 cases of multiple aneuploidies
by NIPT, 18% [95% CI, 7.5%-33.5%]).
5 During NIPT in over 4000 prospective pregnancies by parallel se
6 Furthermore, to be
effective,
NIPT must be able to detect chromosomal rearrangements a
7 Copy-number changes detected
in NIPT sequencing data in the known cancer cases were comp
8 ome-wide copy-number changes in the
original NIPT samples and in subsequent serial samples from indiv
9 R package that implements several
published NIPT analysis methods.
10 ncers most frequently occurred with the
rare NIPT finding of more than 1 aneuploidy detected (7 known
11 tumors in pregnant women undergoing
routine NIPT.
12 Because
standard NIPT can only detect the majority of larger (>6 Mb) chro
13 y detection on noninvasive prenatal
testing (
NIPT) and occult maternal malignancies may explain resul
14 Noninvasive prenatal
testing (
NIPT) for fetal aneuploidy by scanning cell-free fetal D
15 nal cfDNA for non-invasive prenatal
testing (
NIPT) of aneuploidy is widely available.
16 Non-invasive prenatal
testing (
NIPT) of fetal aneuploidy using cell-free fetal DNA is b
17 uent tumor biopsies were concordant with
the NIPT plasma GR profiles.