9.1 CYTOMEGALIC INCLUSION DISEASE Print Section Listen EPIDEMIOLOGY/GENETICS Definition Cytomegalovirus (CMV) is a large, enveloped DNA herpesvirus. Adult infection is frequently asymptomatic, but fetal infection may cause severe damage to…
7.1 CLEFT LIP AND PALATE Print Section Listen EPIDEMIOLOGY/GENETICS Definition A facial cleft involving the upper lip or palate, usually occurring to the left or right of midline, the cleft…
6.1 ANAL ATRESIA Print Section Listen EPIDEMIOLOGY/GENETICS Definition Anal atresia is the congenital absence of an anal opening. Epidemiology Occurrence is 1 5000 births (M3:F2). Embryology Anal atresia results from…
Abstract Noninvasive prenatal testing (NIPT) using cell-free (cf) DNA in maternal blood has the potential to dramatically alter the way prenatal screening and diagnosis for Down’s syndrome is delivered. In…
Abstract Current noninvasive prenatal testing (NIPT) based on cell-free fetal DNA extracted from maternal plasma, has brought about a huge change in the field of prenatal testing, even though it…
Abstract Prenatal whole exome sequencing (WES) in the fetus with isolated or multiple structural anomalies has increased potential to identify a genetic diagnosis above standard genetic testing methods. Fetal DNA…
Abstract A clinically effective screening program for the major placenta-related complications of pregnancy (preeclampsia, fetal growth restriction, and abruption) is an area of unmet clinical need. A major hurdle to…
Abstract Since the introduction of techniques to diagnose genetic diseases in the unborn child, the main application has been to test for severe, untreatable conditions as early in the pregnancy…
Abstract External Quality Assessment (EQA) is recognized by international standards (ISO), and EQA performance is used by accreditation bodies as a tangible measure of the quality of a laboratory’s performance….
