Risks of Genetic Disease and Diagnostic Testing

Question 1

What are some (8) indications that a genetic disorder is likely?

Answer 1

Previous family history of the genetic disorder; positive neonatal screen; congenital anomalies; developmental abnormalities; neurologic disorders; death in utero or soon after birth; growth abnormalities; and multiorgan dysfunction.

Question 2

List 5 indications for obtaining chromosomal analysis.

Answer 2

Multiple birth defects; developmental delay, intellectual disability, or autism; growth abnormalities; abnormal sexual development; and recurrent miscarriages.

Question 3

What are prenatal screening tests used to determine?

Answer 3

Prenatal screening tests tell if a fetus has the possibility of having a genetic disorder.

Question 4

When is the maternal blood screening (Quad screen) performed?

Answer 4

Between weeks 15 and 18 of gestation.

Question 5

What four substances are measured as part of the Quad screen?

Answer 5

Maternal α-fetoprotein, human chorionic gonadotropin, estriol, and inhibin A.

Question 6

A positive prenatal quad screen indicates an increased risk of which 4 disorders?

Answer 6

Trisomy 21, Trisomy 18, neural tube defects, and abdominal wall defects.

Question 7

What diagnostic testing method is used to detect single gene defects?

Answer 7

The Sanger method.