Cystic kidneys are common causes of end-stage renal disease, both in children and in
adults. Autosomal dominant polycystic kidney disease (ADPKD) and autosomal recessive …

Abstract β-thalassaemia major (BTM) has a high prevalence worldwide and is associated
with considerable morbidity and mortality. The aim of this review is to provide an illustrative …

Background Sequencing cell-free DNA in maternal plasma is an effective noninvasive
prenatal testing technique that has been used in fetal aneuploidy screening worldwide …

Detection of detached fetal nucleated red blood cells (fNRBCs) in the maternal peripheral
blood may serve as a prospective testing method competing with the cell-free DNA, in non …

Abstract Low fetal DNA fraction (< 4%) samples obtained during noninvasive prenatal
testing (NIPT) are responsible for 0.5%-3% of “no calls”. Maternal characteristics such as …

Purpose The aim of this study was to assess the performance of a noninvasive prenatal
screening (NIPS) assay for accurate fetal genotyping of pregnancies at genetic risk for …

Neonatal cataracts remain the most common cause of visual loss in children worldwide and
have diverse, often unknown, etiologies. This review summarizes current knowledge about …

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 …

Noninvasive prenatal testing (NIPT) utilizes cell-free fetal DNA (cffDNA) present in maternal
peripheral blood to detect chromosomal abnormalities. The detection of 21-trisomy, 18 …

Noninvasive prenatal testing (NIPT) is increasingly recognized and utilized in the antenatal
care field. In the current study, we aimed to evaluate the clinical application and compare …