Question

How is aneuploidy diagnosed?

Answer 1

Diagnosis of aneuploidy:

1. It is a condition in which an abnormal number of chromosomes are found in an organism.
2. Chorionic villus sampling (CVS) is done in the first trimester of pregnancy at 10 to 13 weeks of pregnancy.
3. Presently, the two markers currently in clinical practice with demonstrated utility are pregnancy-associated plasma protein A (PAPP-A), which is typically reduced, and human chorionic gonadotrophin (HCG), which is elevated in DS.
4. The ultrasound technique is also used to detect aneuploidy.
5. Other diagnostic measures include nasal bone assessment in the first trimester.
6. Combining ultrasound and markers is also used to diagnose aneuploidy.
7. An amniocentesis procedure can also be done at 15 weeks of pregnancy to diagnose amniocentesis.
8. Genetic amniocentesis is done between 15-20 weeks of pregnancy.