Standard prenatal screens can discover Down syndrome. Genetic counseling along with genetic testing, such as amniocentesis, chorionic villus sampling (CVS), or percutaneous umbilical blood sampling (PUBS) are usually offered to families who may have an increased risk of having a child with Down syndrome, or where normal prenatal exams indicate possible problems. Genetic screens are often performed on pregnant women older than 30 or 35. During the first trimester of pregnancy, increased nuchal translucency in the fetus on ultrasound and decreased levels of pregnancy associated protein- A (PAPP-A) suggest the diagnosis of a chromosomal abnormality. Quad screen results during the second trimester of pregnancy may show increased beta-hCG, increased inhibin A, decreased alfa-fetoprotein (AFP) and decreased estriol.
Down syndrome screening
Turner syndrome screening
Growth hormone deficiency screening
Gestational diabetes screening
Renal agenesis screening
Hydrocephalus screening
Mental retardation screening
Androgen insensitivity syndrome screening