Joint Committee Opinion
The American College of Obstetricians and Gynecologists Committee on Genetics and the Society for Maternal-Fetal Medicine Publications Committee Support Noninvasive Prenatal Testing for Fetal Aneuploidy
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Maternal age 35 years or older at delivery.
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Fetal sonographic findings indicating an increased risk of aneuploidy.
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History of a prior pregnancy with a trisomy.
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Positive test result for aneuploidy, including first trimester, sequential, or integrated screen, or a quadruple screen.
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Parental balanced Robertsonian translocation with increased risk for fetal trisomy 13 or 21.
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Patients at increased risk of aneuploidy can be offered testing with cell-free fetal DNA technology. This technology can be expected to identify approximately 98% of cases of Down syndrome with a false-positive rate of less than 0.5%.
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Cell-free fetal DNA testing should not be part of routine prenatal laboratory assessment, but should be an informed patient choice after pretest counseling.
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Cell-free fetal DNA testing should not be offered to low-risk women or women with multiple gestations because it has not been sufficiently evaluated in these groups.
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Pretest counseling should include a review that although the cell-free fetal DNA test is not a diagnostic test, it has high sensitivity and specificity. The test will only screen for the common trisomies, at the present time, gives no other genetic information about the pregnancy.
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A family history should be obtained before the use of this test to determine if the patient should be offered other forms of screening or prenatal diagnosis for familial genetic disease.
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If a fetal structural anomaly is identified on ultrasound examination, invasive prenatal diagnosis should be offered.
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A negative cell-free fetal DNA test result does not ensure an unaffected pregnancy.
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A patient with a positive test result should be referred for genetic counseling and offered invasive prenatal diagnosis for confirmation of test results.
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Cell-free fetal DNA technology does not replace the accuracy and diagnostic precision of prenatal diagnosis with CVS or amniocentesis, which remain an option for women.
This Joint Committee Opinion is consistent with eight other organizations: two professional societies, the National Society of Genetic Counselors (NSGC) and the International Society for Prenatal Diagnosis (ISPD); two non-profit technology assessment organizations, the California Technology Assessment Forum (CTAF) and the Blue Cross and Blue Shield Association Technology Evaluation Center (TEC); and four health care companies, Humana, Aetna, Wellpoint and UnitedHealthcare.
Sequenom CMM offers the MaterniT21™ PLUS laboratory-developed test, a noninvasive, prenatal test that analyzes the relative amount of chromosomal 21, 18, 13, X and Y chromosomal material in circulating cell-free DNA from maternal blood. The test is indicated for use in women at increased risk for fetal chromosomal aneuploidy. For additional information, call 877-821-7266.
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Committee opinion no. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol. 2012;120(6):1532-1534.
Disclaimer
This Committee Opinion does not endorse or represent any specific cell-free fetal DNA tests.