Screening

Question 1

When can EDD (estimated due date) be established in pregnancy?

Answer 1

First Trimester Ultrasound

Question 2

What is used to estimate due date in pregnancy?

Answer 2

Crown rump length (CRL)

Question 3

What is the first ultrasound sign of pregnancy?

Answer 3

Thickening of lining of uterus

Question 4

When can fetal heart pulsation be observed on transvaginal USS?

Answer 4

6 weeks after last menstrual period

Question 5

When should first ultrasound scan of pregnancy be?

Answer 5

11-12 week gestation

Question 6

What can additionally be identified on first trimester ultrasound, along with gestational age?

Answer 6

Diagnose miscarriage
Identify multiple pregnancy
Exclude abnormalities incompatible with life (Anencephaly, Molar pregnancy)

Question 7

What screening test can be used for Down’s Syndrome during the first ultrasound?

Answer 7

Combined Ultrasound and Biochemical (CUB) screening

Question 8

What screening tests can be used for chromosomal abnormalities in the second trimester?

Answer 8

Blood tests for

• serum alphafetoprotein (AFP)
• total HCG
• Unconjugated Eostriol (UE3)
• Inhibin-A

Question 9

When is second trimester ultrasound offered?

Answer 9

20 weeks

Question 10

What is the purpose of second trimester ultrasound?

Answer 10

Identify major structural abnormalities

Question 11

What would be the purpose of third trimester ultrasound?

Answer 11

Ensure fetal wellbeing.

Not routine.

Question 12

Which conditions are tested for in the Sottish neonatal blood spot test?

Answer 12

• Phenylketonuria (PKU)
• Hypothyroidism
• Cystic Fibrosis
• ?Sickle Cell

Question 13

What are some common recessive disorders that raise screening issues?

Answer 13

N. Europe -  Cystic Fibrosis
Africans - Sickle Cell Diseases
Mediterranean, Asia - Thalassaemias
Ashkenazi Jews
– Tay-Sachs disease
– CF W1282X
– Breast / ovarian cancer BRCA1

Question 14

What do people need to know prior to getting a genetic test?

Answer 14

-What test is for
_What's the point in having it done?
-How test works
-How likely is it to be positive
-What happens if its positive
-What if its negative
-Chances of false negative/positive
-Implications for other family members