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 …

Objective We aimed to investigate how the presence of fetal anomalies and different X
chromosome variants influences Cell‐free DNA (cfDNA) screening results for monosomy X …

Initially provided as an alternative to evaluation of serum analytes and nuchal translucency
for the assessment of pregnancies at high risk of trisomy 21, cell-free DNA screening for fetal …

The sequencing of cell-free fetal DNA in the maternal plasma through non-invasive prenatal
testing (NIPT) is an accurate genetic screening test to detect the most common fetal …

To evaluate the efficacy of non-invasive prenatal screening (NIPT) for detecting fetal sex
chromosome abnormalities, a total of 639 women carrying sex chromosome abnormalities …

Background: The existing risk of procedure-related miscarriage following invasive sampling
for prenatal diagnosis is higher for twin pregnancies and some women are reluctant to test …

Abstract Introduction Identifying hydatidiform moles (HMs) is crucial due to the risk of
gestational trophoblastic neoplasia. When a HM is suspected on clinical findings, surgical …

Noninvasive prenatal testing (NIPT) is commonly used to screen for fetal trisomy 13, 18, and
21 and often for sex chromosomal aneuploidies (SCAs). Although the testing is also used for …

In humans, the most common aneuploidies are trisomies, which represent about 0.3% of all
live births and make up an even higher proportion in products of conception (Hassold and …

Objective We present a false-positive result at non-invasive prenatal testing (NIPT) due to
maternal 17p12 microduplication. Case report A 37-year-old, gravida 2, para 1, woman …