Objective To evaluate the prevalence of mosaicism in chorionic villus sampling (CVS)
samples after chromosomal microarray (CMA) and clinical outcome of pregnancies affected …

Introduction In this register‐based study of pregnancies in Denmark, we assessed the
associations between maternal age and the risk of fetal aneuploidies (trisomy 21, trisomy 18 …

As the prevalence of pregnancies with advanced maternal age increases, the risk of fetal
chromosomal abnormalities is on the rise. Therefore, prenatal genetic screening and …

BACKGROUND: The emergence of cell-free fetal DNA (cfDNA) testing technology has
disrupted the landscape of prenatal screening for trisomies 21 (T21) and 18 (T18). Publicly …

Background Maternal X chromosome abnormalities may cause discordant results between
noninvasive prenatal screening tests and diagnostic evaluation of the fetus/newborn …

Objectives To compute a set of atypicality indices based on combined first‐trimester
screening (cFTS) markers and second‐trimester estimated fetal weight (EFW), and to …

Objectives To examine the distribution of nuchal translucency thickness (NT), free β‐human
chorionic gonadotropin (β‐hCG) and pregnancy‐associated plasma protein‐A (PAPP‐A) in …

Diagnostic puncture (amniocentesis, chorionic villus sampling, and fetal blood sampling) is
an essential part of prenatal diagnostics and the only established and sufficiently …

Objectives To determine the detection rates of all types of chromosome aberrations and the
residual risk for postnatal diagnosis of an atypical chromosome aberration depending on the …

Objectives To identify the most common ultrasound patterns of markers and anomalies
associated with Patau syndrome (PS), to explore the efficacy of multiparameter sonographic …