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First‐trimester combined screening

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The ability to provide an accurate, patient‐specific, risk assessment for fetal trisomy 21 during the first trimester is an established part of routine clinical practice. This allows patients the option of CVS to confirm or exclude fetal aneuploidy, and the possibility of pregnancy termination earlier in gestation. Such patient‐specific risk estimation is currently most commonly performed using a combination of maternal age, sonographic measurement of nuchal translucency (NT), and assay of two maternal serum markers – pregnancy‐associated plasma protein A (PAPP‐A) and either the free beta‐subunit (fβ) or the intact molecule of human chorionic gonadotrophin (hCG).

Protocols for High-Risk Pregnancies

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