OB- biochemical markers in pregnancy

Question 1

Genetic testing: 7 genetic disorders that can be diagnosed before birth?

Answer 1

Cystic fibrosis
Duchenne muscular dystrophy
Hemophilia A
Polycystic kidney disease
Sickle cell disease
Tay-Sachs disease
Thalassemia

Question 2

quadruple maternal serum screenign combined with the maternal serum assays may aid in? and the classic test includes?

Answer 2

• increasing the sensitivity and specificity of detection for fetal abnomalities

Classic test:

• triple screen for AFP. serum, HCG, and estriol
• the quadruple screen adds inhibin A

Question 3

What is NIPT?

Answer 3

• Non-invasive Prenatal Testing (NIPT)
• screening test available from 9 or 10 weeks gestation until the end of the pregnancy
• looks at this placental DNA and can tell if there is a high or a low chance for each of the chromosome differences that are screened:
  trisomy 21 (Down syndrome)
  trisomy 18
  trisomy 13

Question 4

What do you screen for in 1st trimester?

Answer 4

combination of fetal ultrasound and maternal blood testing

Ultrasound for:

• nuchal translucency
• nasal bone

Blood test for:

• pregnancy-associated plasma protein A
• Human chorionic gonadotropin

Question 5

what is pregnancy-associated plasma protein A?

Answer 5

• protein produced by the placenta in early pregnancy

- abnormal levels are associated with an increased risk of chromosomal abnormality

Question 6

what is human chorionic gonadotrophin?

Answer 6

• hormone produced by the placenta in early pregnancy

- Abnormal levels are associated with an increased risk of chromosomal abnormality

Question 7

2nd trimester evaluation includes?

Answer 7

• multiple markers
• provide information about your potential risk of having a baby with certain genetic conditions or birth defects
• sample of your blood between 15 and 20 weeks of pregnancy (16 to 18 weeks is ideal)

Question 8

What is AFP screening?

Answer 8

• protein normally produced by the fetal liver that is present in the fluid surrounding the fetus (amniotic fluid)
• It crosses the placenta and enters maternal blood

Question 9

abnormal levels of AFP may indicate?

Answer 9

• A miscalculated due date, as the levels vary throughout pregnancy
• Defects in the abdominal wall of the fetus
• Down syndrome or other chromosomal abnormalities
  Open neural tube defects, such as spina bifida
• Twins (more than one fetus is producing the protein)

Question 10

Elavated values of AFP are found in?

Answer 10

• multiple preganacies
• skin disease
• organ failure
• congenital nephropathy
• cystic higroma
• hepatic necrosis
• neural tube defects
• abdominal wall defects

Question 11

Low values of AFP are associated with?

Answer 11

• chromosomal abnormalities
• defects of the placents
• fetal hydrops
• trophoblastic disease
• diabetic mothers

Question 12

what is estriol and how is it measured?

Answer 12

• hormone produced by the placenta

- measured in maternal blood or urine to be used to determine fetal health

Question 13

3 markers and hormones produced by the placenta?

Answer 13

1. estriol
2. inhibin
3. human chorionic gonadotrophin

Question 14

what does inhibin A predict?

Answer 14

• miscarrige
• tri 21
• pree clampsia
• FGR