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Conclusion

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A wide range of screening tests for fetal aneuploidy, in particular trisomy 21, is now available in both the first and second trimesters. Cell‐free DNA‐based tests are more targeted and precise for the common aneuploidies, so are more appropriate for women at high risk for aneuploidy. Serum‐based tests have higher false‐positive rates but can detect risk for a broader array of abnormalities and therefore have some advantages for women at low risk for aneuploidy. No one approach is best, but concurrent use of serum and cfDNA screening can lead to confusion among patients and providers and should be avoided. All pregnant patients should be provided with pretest counseling to select the most appropriate screening or diagnostic test for their particular circumstances. Rapid developments in the field mean that test options and guidelines are constantly evolving.

Protocols for High-Risk Pregnancies

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