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NIPT screening — RACP Paediatrics MCQ

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EasyGeneticsNIPT screeningRACP Paediatrics

A pregnant woman aged 38 wishes to screen for chromosomal abnormalities in the first trimester. She wants a non-invasive approach first. What is the most appropriate initial screening test?

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Correct answer: B — Non-invasive prenatal testing (NIPT)

Non-invasive prenatal testing (NIPT/cell-free DNA screening) is the most sensitive and specific screening test for common trisomies (21, 18, 13) available from 10 weeks gestation. In Australia, it is recommended as a first-line screening option. It analyses cell-free fetal DNA in maternal blood. It is a screening test – confirmatory invasive testing (CVS or amniocentesis) is required for positive results.

Reference: RACP Paediatric Curriculum – Genetics; Australian Guidelines on Prenatal Screening