Clinical Aspects Of Chromosomal Disorders

Question 1

How common are different causes of genetic disorders?

Answer 1

Chomosomal = 0.6% live births
Single gene = 1% live births
Multifactorial = common

Question 2

What is aneuploidy?

Answer 2

One or more chromosomes are lost or gained (trisomy, monopoly, sex chromosome)

Question 3

How does NIPT work?

Answer 3

Blood sample
Cell free fatal DNA is fragmented - 140-180bp
NGS used
Detects aneuploidy
Less accurate for sex chromosomes due to mosaicism of mothers X chromosome