Since its introduction in 2011, noninvasive prenatal testing (NIPT) has spread rapidly around
the world. It carries numerous benefits but also raises challenges, often related to …

Chromosomal microarray analysis (CMA) is performed either by array comparative genomic
hybridization or by using a single nucleotide polymorphism array. In the prenatal setting …

Approximately 3% to 5% of pregnancies are complicated by birth defects or genetic
disorders. 1 Chromosomal abnormalities are present in approximately 1 in 150 live births, 2 …

Circulating rare cells in the blood are of great significance for both materials research and
clinical applications. For example, circulating tumor cells (CTCs) have been demonstrated …

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 …

Genetic eye diseases affect around one in 1000 people worldwide for which the molecular
aetiology remains unknown in the majority. The identification of disease-causing gene …

Fetal death because of miscarriage, unexpected intrauterine fetal demise, or termination of
pregnancy is a traumatic event for any family. Despite advances in prenatal imaging and …

Prenatal cytogenetic diagnosis has expanded over the past several years from karyotype
and fluorescence in situ hybridization to chromosomal microarray analysis (CMA). This …

Importance Cell-free DNA (cfDNA) tests are increasingly being offered to women in the first
trimester of pregnancies at a high risk of trisomy 21 to decrease the number of required …

Objective The aim of this study is to explore the utility of rapid medical trio exome
sequencing (ES) for prenatal diagnosis using the skeletal dysplasia as an exemplar. Method …