prenatal diagnosis of genetic diseases

Question 1

normal pregnancy confirmation

Answer 1

serum in combined test detects beta-human chorionic gonadotropin ​(hCG)

Question 2

define teratogen

Answer 2

agent that interferes with normal embryonic development

Question 3

nuchal scan

Answer 3

booked into antenatal care; detects date, multiple, major (chromosomal) anomalies, early miscarriage; 10-14 weeks; study nuchal translucency (measure of fluid at back of baby’s neck); screen test so not diagnostic

Question 4

alpha-fetoprotein levels

Answer 4

low: associated with Down syndrome; high: associated with spina bifida, open abdominal wall defects, foetal death and multiple pregnancies

Question 5

when to be referred

Answer 5

abnormal findings at nuchal/mid-trimester scan; increased risk of Down; if previous pregnancy affected with condition; parent is carrier of genetic condition; family history

Question 6

aims

Answer 6

inform and prepare parents; offer in utero treatment; manage rest of pregnancy; allow abortion