Osteogenesis imperfecta (OI), or brittle bone disease, is a heterogeneous disorder
characterised by bone fragility, multiple fractures, bone deformity, and short stature. OI is a …

Abstract Background Osteogenesis Imperfecta (OI) is a rare genetic disorder involving bone
fragility. OI patients typically suffer from numerous fractures, skeletal deformities, shortness …

In a cell-based non-invasive prenatal test (cbNIPT), intact circulating trophoblasts (CTs) are
isolated from maternal blood for subsequent genetic analysis. Enrichment of these CTs from …

Background Skeletal dysplasia (SD) is one of the most common inherited neonatal disorders
worldwide, where the recurrent pathogenic mutations in the FGFR2, FGFR3, COL1A1 …

Objective The aim is to develop a novel noninvasive prenatal testing (NIPT) method that
simultaneously performs fetal aneuploidy screening and the detection of de novo and …

The innovative method described involves antepartum testing to determine if the fetus has
the potential of later developing autism. A technique is detailed which allows examining the …

Non-invasive prenatal testing (NIPT) enables accurate detection of fetal chromosomal
trisomies. The majority of publicly available computational methods for sequencing-based …

For decades, prenatal testing has been offered to evaluate pregnancies for genetic
conditions. In recent years, the number of testing options and range of testing capabilities …

Objective: To analyze the clinical value of non-invasive prenatal testing (NIPT) in detecting
chromosomal copy number variations (CNVs) and to explore the relationship between gene …

Triple-negative breast cancers (TNBCs) are pathologically defined by the absence of
estrogen, progesterone, and HER2 receptors. Compared to other breast cancers, TNBC has …