Antenatal Care: Aneuploidy, Teratogens Flashcards
Who is responsible for antenatal care
Midwives
When are obstetricians involved
High-risk pregnancies
When is booking appointment
12W
How many appointments will an uncomplicated nulliparous women recieve
10 appointments
When is the early US scan done
11-13+6
When is structural anomaly scan performed
18-20+6
When is first-dose anti-D prophylaxis started for rhesus negative women
28W
When is second-dose anti-D prophylaxis started for rhesus negative women
34W
When is gestational diabetes screened for
- Booking if previous GDM
- 24-28W if at-risk
What indicates screening for GDM
- First-degree relative diabetes
- Asian
- Macrosomic baby
If a women had GDM in a previous pregnancy, when should OGTT be performed
16 and 28W
What is a pregnant women eligible for
Healthy start multivitamin
What does a healthy start multivitamin contain
Vitamin C
Vitamin D
Folic acid
When is folic acid given
Pre-conception to 12W
Why is folic acid given
Prevent NTD
When is 5mg folic acid given
Anti-epileptics Child with NTD Diabetes BMI >30 HIV Co-trimoxazole
When is nuchal translucency looked for
11-13+6
What are 3 conditions where nuchal translucency may be increased
- Down syndrome
- Congenital heart defect
- Abdominal wall defect
What are 3 conditions that may cause hyperechogenic bowel
- Cystic fibrosis
- Downs syndrome
- CMV
What is seen on anomaly scan
Look at each structure independently
What is Down’s syndrome also known as
Trisomy-21
What is the most common aneuploidy
Trisomy-21
What genetic defect is in 95% of trisomy-21
Non-Dysfunction
What is non dysjunction
When two homologous chromosomes fail to separate in downs syndrome
What are two other genetic defects possible in trisomy 21
Robertsonian
Mosaicism
What % is due to balanced robertsonian translocation
5
What balanced translocation happens in D2
Long-arm chromosome 14, joins long-arm chromosome 21
What is mosaicism
two genetically different populations
What is risk Down syndrome in under 25’s
1:1500
What is risk Downs syndrome in 30
1:900
What is risk Down syndrome in 35
1:400
What is risk in Down syndrome in 40
1:100
What is risk in Down syndrome in over 45
1:30
What differences can be seen in the eyes of DS child
Large palpabrae fissures
Brushfield spots
What are brush field spots
Grey-brown discolouration of the iris
What is an oral feature of downs syndrome
Small mouth
High-arch palate
What is a nasal feature of downs syndrome
Flat broad nasal bridge
How do the ears appear in downs syndrome
Small, round, low-set ears
What can be seen on hands of downs syndrome child
Single transverse palmar crease
What can be seen in feet of someone with downs syndrome
Large sandal gap
What is a sandal gap
Large gap between big and second toe
What heart defects are seen in DS
AVSD (40%)
VSD (30%
ASD (10%)
What bowel defects are seen in DS
Duodenal atresia
Hirschsprungs
What haematological defect is seen in DS
ALL
What neurological deficits are seen in DS
Epilepsy
Early-onset alzheimer’s disease
What motor features are seen in trisomy 21
Hypotonia
Delayed motor development
What MSK features are seen in trisomy 21
Short-stature
Obesity
What cognitive features are seen in DS
Intellectual disability
What are all women in the UK offered
Screening DS with combined test