Antenatal diagnosis of all of these disorders is possible except:
Ans. D. Severe combined immunodeficiency syndrome* There are various methods for antenatal detection of different congenital disorders. Antenatal ultrasound is one of them.* A first-trimester sonography can be used for confirming gestational age, singleton or multiple pregnancy and to measure nuchal thickness.* Second-trimester sonography detects fetal structural defects. Nuchal translucency is a powerful tool to detect aneuploidy such as Down's syndrome; it is also increased in patients with Noonan's syndrome, Stickler syndrome, and Miller-Dieker syndrome, among others.* Anencephaly is a NTD that can also be detected prenatally with sonography and maternal serum alpha-fetoprotein (MSAFP) screening test.* Prenatal genetic testing is not routinely done for severe combined immunodeficiency but is only available if a genetic cause has already been identified in the family.* If a genetic cause has been identified, DNA from the fetus can be removed and tested.
Down's syndrome
Noonan's syndrome
Anencephaly
Severe combined immunodeficiency syndrome
Genetics And Genetic Disorders