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Prenatal Screening for Fetal Aneuploidy

Obstet Gynecol; ePub 2016 May; Rose, Mercer, et al

The American College of Obstetricians and Gynecologists (ACOG) and the Society of Maternal-Fetal Medicine (SMFM) have issued a practice bulletin on prenatal screening for fetal aneuploidy with the purpose of providing current information and recommendations regarding available screening test options and to review their benefit, accuracy, and limitations. The following recommendations and conclusions are based on good and consistent scientific evidence (Level A):

• Women who have a negative screening test result should not be offered additional screening tests for aneuploidy because this will increase their potential for a false-positive test result.

• If an enlarged nuchal translucency, an obvious anomaly, or a cystic hygroma is identified on ultrasonography, the patient should be offered genetic counseling and diagnostic testing for aneuploidy as well as follow-up ultrasonography for fetal structural abnormalities.

• Patients with an enlarged nuchal translucency or cystic hygroma and normal fetal karyotype should be offered an anatomic evaluation in the second trimester, fetal cardiac ultrasonography, and further counseling regarding the potential for genetic syndromes not detected by aneuploidy screening.

• Women who undergo first-trimester screening should be offered second-trimester assessment for open fetal defects (by ultrasonography, MSAFP screening, or both) and ultrasound screening for other fetal structural defects.

• Because cell-free DNA is a screening test with the potential for false-positive and false-negative results, such testing should not be used as a substitute for diagnostic testing.

• All women with a positive cell-free DNA test result should have a diagnostic procedure before any irreversible action, such as pregnancy termination, is taken.

• Women whose cell-free DNA screening test results are not reported, are indeterminate, or are uninterpretable (a no call test result) should receive further genetic counseling and be offered comprehensive ultrasound evaluation and diagnostic testing because of an increased risk of aneuploidy.

• Women with a positive screening test result for fetal aneuploidy should be offered further detailed counseling and testing.

Citation: Rose NC, Mercer BM, et al. Screening for fetal aneuploidy. Practice Bulletin No. 163. American College of Obstetricians and Gynecologists. Obstet Gynecol. 2016;127:e123–37.