OBJECTIVES To determine the underlying biological basis for noninvasive prenatal testing (NIPT) results of multiple aneuploidies or autosomal monosomies. METHODS Retrospective analysis of 113,415 tests to determine the study cohort, consisting of 138 (0.12%) cases reported as a single autosomal monosomy (n = 65), single trisomy with a sex chromosome aneuploidy (n = 36), or with multiple aneup...

OBJECTIVE To review clinical validation or implementation studies of maternal blood cell-free (cf) DNA analysis in screening for aneuploidies and to explore the potential use of this method in clinical practice. METHODS Searches of PubMed and MEDLINE were performed to identify all peer-reviewed articles on cfDNA testing in screening for aneuploidies between 2011, when the first such study was...

Repeated semen specimens from healthy men were analyzed by sperm fluorescence in situ hybridization (FISH), to identify men who consistently produced elevated frequencies of aneuploid sperm and to determine whether men who were identified as stable variants of sperm aneuploidy also exhibited higher frequencies of aneuploidy in their peripheral blood lymphocytes. Seven semen specimens were provi...

OBJECTIVE The objective of this study was to investigate a strategy for clinical implementation of cell-free DNA (cfDNA) testing in high-risk pregnancies after first-trimester combined screening. METHODS In 259 singleton pregnancies undergoing invasive testing after first-trimester combined screening, a maternal blood sample was sent to the laboratory Natera for cfDNA testing using a single-n...

BACKGROUND Male sex chromosome aneuploidies are underdiagnosed despite concomitant physical and behavioral manifestations. OBJECTIVE To develop a non-invasive, rapid and high-throughput molecular diagnostic assay for detection of male sex chromosome aneuploidies, including 47,XXY (Klinefelter), 47,XYY, 48,XXYY and 48,XXXY syndromes. METHODS The assay utilizes three XYM and four XA markers t...

INTRODUCTION To examine the prevalence and outcome of absent ductus venosus (DV) diagnosed at 11-13 weeks' gestation. METHOD Prospective screening study for aneuploidies in 65,840 singleton pregnancies, including measurement of nuchal translucency (NT) thickness and examination of the DV. Prenatal findings and outcome of fetuses with absent DV were examined. RESULTS Absent DV was diagnosed ...

BACKGROUND Patients with poor semen quality show increased sperm disomy and diploidy rates. Oligozoospermia and teratozoospermia are known to influence sperm aneuploidy, but there is still a debate about whether aneuploidies are associated with reduced motility. METHODS Ejaculates from a large group of patients were examined by light microscopy to evaluate sperm concentration, motility and mo...

Female meiosis is comprised by two cell divisions, meiosis I (MI) and II (MII) and two different stages at which the development of the oocyte is temporarily halted. In the case of MI, this pause can potentially last for four to five decades. This added layer of complexity distinguishes female gametogenesis from its male counterpart. The single most important genetic factor impacting human repr...

Abstract Noninvasive prenatal testing (NIPT) has revolutionized the screening methods for fetal chromosomal aneuploidies with high utility common chromosomes 13,18, 21, X and Y. Trisomy 13 is often associated major minor malformations can be screened by antenatal scan first- second-trimester biochemical screening. We describe a case risk trisomy on NIPT, but without any abnormalities scan. As r...