There is extensive evidence that effective screening for major chromosomal abnormalities
can be provided in the first trimester of pregnancy. Prospective studies in a total of 200,868 …

Increased fetal nuchal translucency (NT) thickness between 11 and 14 weeks' gestation is a
common phenotypic expression of chromosomal abnormalities, including trisomy 21 …

Background Prenatal diagnosis of trisomy 21 requires an invasive test in women regarded
as being at high risk after screening. At present there are four screening tests, and for a 5 …

Nuchal translucency (NT) is the sonographic appearance of a subcutaneous collection of
fluid behind the fetal neck. The measurement of fetal NT thickness at the 11–14‐week scan …

Objective Fetal nuchal translucency (NT) thickness increases with crown–rump length
(CRL). In screening for chromosomal defects patient‐specific risks are derived by multiplying …

OBJECTIVE: To examine the prevalence and distribution of all chromosomal defects in
fetuses with increased nuchal translucency thickness. METHODS: Assessment of risk for …

Hirschsprung's disease (HSCR) is a severe congenital anomaly of the enteric nervous
system (ENS) characterized by functional intestinal obstruction due to a lack of intrinsic …

Collagen VI is a major extracellular matrix protein exerting a number of functions in different
tissues, spanning from biomechanical to regulatory signals in the cell survival processes …

Keratoconus (KC) is one of the most significant corneal disorders worldwide, characterized
by the progressive thinning and cone-shaped protrusion of the cornea, which can lead to …

An increase in the nuchal translucency that can be detected at 10–14 weeks of gestation by
ultrasound forms the basis for a screening test for chromosomal abnormality. Several …