Objective The diagnostic accuracy of cell-free fetal DNA in screening for rare autosomal
trisomies is uncertain. We conducted a systematic review and meta-analysis aiming to …

ABSTRACT Introduction Sex chromosome aneuploidies (SCAs) are among the most
common chromosome abnormalities observed in humans. Manifestations include low …

Non-invasive prenatal testing (NIPT) for trisomies 21, 18, 13 and monosomy X is widely
utilized with massively parallel shotgun sequencing (MPSS), digital analysis of selected …

Background Single nucleotide polymorphism array (SNP-array) has been introduced for
prenatal diagnosis. We aimed to evaluate the clinical value of SNP-array in the diagnosis of …

To evaluate the performance of noninvasive prenatal screening (NIPS) in the detection of
common aneuploidies in a population-based study, a total of 86,262 single pregnancies …

Atypical fetal chromosomal anomalies are more frequent than previously recognized and
can affect fetal development. We propose a screening strategy for a genome-wide non …

Objectives: Non-invasive prenatal testing (NIPT) has been widely used in recent years.
According to clinical experience from all hospitals providing prenatal screening services in …

Purpose This study is to assess the performance of expanded noninvasive prenatal testing
(NIPT) in detecting chromosome aneuploidies and chromosome copy number variants …

OBJECTIVE Although cell-free DNA screening for sex chromosome abnormalities is
increasingly used in clinical practice, its diagnostic accuracy and clinical utility remain …

Background Follow‐up cytogenetic analysis has been recommended for cases with positive
noninvasive prenatal screening (NIPS) results. This study of five cases with numerical and …