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First trimester screening for aneuploidy: nuchal translucency sonography
1Department of Obstetrics and Gynecology, Columbia University College of Physicians and Surgeons, Columbia-Presbyterian Medical Center, New York, NY 10032, USA.
Seminars in Perinatology
|November 7, 1999
Summary
First trimester screening using nuchal translucency sonography shows promise for detecting fetal aneuploidy, including Down syndrome. Combining this with biochemical screening may enhance prenatal diagnostic accuracy.
Area of Science:
- Prenatal Diagnosis
- Genetics
- Obstetrics
Background:
- Current standard for fetal aneuploidy screening involves maternal age and second-trimester serum markers.
- This approach detects about 60% of Down syndrome cases, with results available in the second trimester.
Purpose of the Study:
- To review studies on nuchal translucency (NT) sonography for first-trimester aneuploidy screening.
- To explore the potential of NT measurements combined with biochemical screening for improved prenatal diagnosis.
Main Methods:
- Utilizing nuchal translucency sonography to measure fetal space between 10-14 weeks' gestation.
- Reviewing existing research on NT-based screening in various patient populations.
Main Results:
- First-trimester NT screening demonstrates significant advantages for Down syndrome detection compared to second-trimester methods.
- Studies suggest NT screening is a promising area for early aneuploidy detection.
Conclusions:
- Nuchal translucency sonography is a valuable tool for first-trimester aneuploidy screening.
- Combining NT measurements with first-trimester biochemical screening may further increase prenatal screening efficacy.