In 1959, 63 years after the death of John Langdon Down, Jérôme Lejeune discovered
trisomy 21 as the genetic reason for Down syndrome. Screening for Down syndrome has …

Emerging genomic technologies, largely based around next generation sequencing (NGS),
are offering new promise for safer prenatal genetic diagnosis. These innovative approaches …

Fast and accurate interrogation of complex samples containing diseased cells or pathogens
is important to make informed decisions on clinical and public health issues. Inertial …

Investigators have long been interested in the natural phenomenon of fetal and placental
cell trafficking into the maternal circulation. The scarcity of these circulating cells makes their …

Introduction: The advent of affordable and rapid next-generation sequencing has been
transformative for prenatal diagnosis. Sequencing of cell-free DNA in maternal plasma has …

Background Pregnant people have a risk of carrying a fetus affected by a chromosomal
anomaly. Prenatal screening is offered to pregnant people to assess their risk. Noninvasive …

Objective To gather additional data on the ability to detect subchromosomal abnormalities of
various sizes in single fetal cells isolated from maternal blood, using low‐coverage shotgun …

Next-generation sequencing and other genomic technologies are transforming prenatal and
reproductive screening and testing for fetal genetic disorders at an unprecedented pace …

While noninvasive prenatal testing based on cell‐free fetal DNA has recently revolutionized
the field of aneuploidy screening in pregnancy, it remains limited to aneuploidy and …

The options for prenatal genetic testing have evolved rapidly in the past decade, and
advances in sequencing technology now allow genetic diagnoses to be made down to the …