Down's syndrome screening — DRCOG MCQ

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HardAntenatal CareDown's syndrome screeningDRCOG

A 31-year-old woman is 11+5 weeks pregnant and asks about screening for Down's syndrome. She wants to know which routine NHS test is usually offered at this stage. What would you advise?

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Correct answer: D — Combined screening with nuchal translucency and maternal serum markers

The best answer is “Combined screening with nuchal translucency and maternal serum markers”. At 11 to 14 weeks, combined screening uses nuchal translucency and maternal serum markers to estimate chance of trisomy 21, 18 and 13. Quadruple screening is used later when combined screening is not possible. Cell-free DNA is a screening test, not diagnostic confirmation. Invasive testing is reserved for women who choose diagnostic testing after counselling. Antenatal decisions combine gestation, maternal stability, fetal risk and whether care can safely remain in the community. Screening, diagnostic testing and urgent assessment are not interchangeable. The UK pathway should be followed with clear safety-netting whenever symptoms may evolve before the next routine appointment.

Reference: NICE NG201: Antenatal care: https://www.nice.org.uk/guidance/ng201/chapter/recommendations