1. Antenatal Screening
Mehreen Yousaf
GP STS

2. Antenatal screening
Sickle Cell and Thalassaemia
Infectious Diseases
Downs syndrome
Summary

3. Informed Choice
Screening is a choice and it is important that women and their families are given unbiased, balanced information, in a timely manner and in a format they can understand to help them make that choice
The decision to take up or decline the offer of screening should be recorded

4. Sickle Cell & Thalassaemia
Offer all pregnant women screening for sickle cell and thalassaemia by 8-10 weeks of pregnancy
If the pregnant woman is identified as, or known to be a carrier – offer screening to the baby’s father as soon as possible
Observing local policy, base screening on the Family Origin Questionnaire and blood test results
Testing can be carried out pre conceptually on request
All babies can be screened for sickle cell disease on the newborn blood spot
sct.screening.nhs.uk/

5. Infectious Diseases
Screening for HIV, Hepatitis B, Syphilis and Rubella susceptibility should be offered to all pregnant women, early in pregnancy
All women who have, or who are already known to have positive screen results for HIV, Hepatitis B or Syphilis are referred for appropriate specialist care in line with current programme standards
Women who are susceptible to Rubella, should be offered MMR immunisation for future pregnancies, and if the offer is accepted, they should receive their first dose before discharge by maternity services, and the second dose should be offered by the GP
Babies that are born to Hepatitis B positive mothers, should be vaccinated within 24 hours, and at 1, 2 and 12 months of age
infectiousdiseases.screening.nhs.uk/

6. Fetal Anomaly: Down’s syndrome (Trisomy 21)
All women in England should be offered a screening test for Trisomy 21 that meets agreed national standards
Women should be offered information in a timely manner to help them decide if they want screening or not
The aim of this screening programme is to identify those women at a higher risk of having a baby with Down's syndrome and offer them diagnostic testing
1st trimester combined screening is the recommended screening strategy for Trisomy 21. The scan to measure the nuchal translucency and crown rump length can be performed from 11+2 to 14+1 weeks gestation and the corresponding serum sample from 10+0 to weeks gestation
The serum screen measures free beta-hCG (human chorionic gonadotrophin) and Pregnancy-associated plasma protein A (PAPP-A)

7. The quadruple test can be taken between 14+2 to 20+0 weeks gestation
The quadruple test can be taken between 14+2 to weeks gestation. It is the screening strategy of choice in the 2nd trimester for women booking later in pregnancy or when it is not possible to measure the nuchal translucency
This measures free beta-hCG, alpha fetoprotein (AFP), inhibin-A and unconjugated estriol (uE3)
The chance of the fetus having Down's syndrome is calculated using software that takes into account maternal factors such as age, weight and family origin, gestation of the pregnancy.
The screening test is positive if this probability is equal to, or greater than, a nationally agreed cut-off level (1 in 150)
These women are then offered diagnostic testing.

8. Questions?