RIU 435 Lecture Notes - Lecture 3: Muscle Tone, Congenital Diaphragmatic Hernia, Omphalocele
Document Summary
Chromosomal abnormalities found in 1 of every 180 live births. High prevalence of chromosomal abnormalities in patients referred for second trimester amniocentesis. Abnormal fluid collection behind fetal neck strongly associated with aneuploidy. Nt reported as late first trimester finding identified between 10 and 14 weeks of gestation. Nt measurement should be compared with gestational age or crl to determine risk for aneuploidy and combine with maternal age and first trimester serum screening. Increased nt associated with increased incidence of structural defects. Down syndrome (ds or dns), also known as trisomy 21, is a genetic disorder caused by the presence of all or part of a third copy of chromosome 21. British physician best known for his description of a relatively common genetic disorder, now known as down. Chromosomal condition that is associated with intellectual disability, a characteristic facial appearance, and weak muscle tone (hypotonia) in infancy.