Down syndrome: Overview of prenatal screening
- Geralyn M Messerlian, PhD
Geralyn M Messerlian, PhD
- Professor of Pathology & Laboratory Medicine
- Alpert Medical School of Brown University
- Glenn E Palomaki, PhD
Glenn E Palomaki, PhD
- Associate Professor of Pathology and Laboratory Medicine
- Alpert Medical School of Brown University
Early detection of pregnancies at high risk for trisomy 21 (Down syndrome) is the primary target of prenatal aneuploidy screening since this syndrome is the most common autosomal trisomy among live births. Because biochemical-marker screening for Down syndrome involves measuring levels of the same markers that perform well for detecting trisomy 18 (Edwards syndrome, the second most common autosomal trisomy among live births), biochemical-marker screening tests provide risk assessment for both chromosomal abnormalities. Some screening tests also provide risk assessment for trisomy 13 (Patau syndrome). Because both the birth prevalence and long-term survival are much higher for Down syndrome than for trisomies 18 and 13, this topic will focus on Down syndrome.
Issues related to prenatal screening for Down syndrome will be reviewed here. The clinical characteristics, medical care, and prognosis for children with these syndromes are discussed separately:
●(See "Down syndrome: Management".)
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- RATIONALE FOR SCREENING
- CANDIDATES FOR PRENATAL SCREENING
- CANDIDATES FOR DIAGNOSTIC TESTING
- SCREENING TESTS
- Second trimester quadruple test
- First trimester combined test
- Tests integrated across the first and second trimesters
- Cell-free DNA
- MANAGEMENT OF SCREENING RESULTS
- Screen-negative test result
- Screen-positive test result
- - Screen positive biochemical marker-based tests
- - Screen positive cell-free DNA-based test
- DIAGNOSTIC TESTING
- DELIVERING THE DIAGNOSIS TO PATIENTS WITH AFFECTED PREGNANCIES
- MANAGEMENT OF PREGNANCY
- IMPACT OF OFFERING PRENATAL SCREENING
- INFORMATION FOR PATIENTS
- SUMMARY AND RECOMMENDATIONS