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Invasive fetal testing.

Robert H Ball¹

¹Division of Perinatology and Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, 94143-0132, USA. ballr@obgyn.ucsf.edu

Current Opinion in Obstetrics & Gynecology

|March 17, 2004

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First-trimester screening for aneuploidy is effective and will be increasingly used. Invasive fetal therapies are also being rigorously evaluated for specific conditions.

Area of Science:

Maternal-fetal medicine
Prenatal diagnostics
Genetics

Background:

Advances in prenatal diagnosis and invasive fetal testing are rapidly evolving.
Recent publications significantly impact prenatal care strategies for pregnant women.

Purpose of the Study:

To review recent studies in prenatal diagnosis and invasive fetal testing.
To describe the impact of these studies on prenatal care.

Main Methods:

Literature review of publications from the past year.
Focus on first-trimester screening, invasive testing risks, and fetal therapy.

Main Results:

First-trimester screening for aneuploidy demonstrates comparable or superior efficacy to second-trimester screening.

Related Experiment Videos

Updated data on loss rates associated with amniocentesis and chorionic villus sampling are presented.

Current research on invasive fetal therapies for specific conditions is highlighted.

Conclusions:

First-trimester screening is poised for increased utilization in aneuploidy screening for both low and high-risk pregnancies.
Invasive fetal therapy is under rigorous scientific evaluation for conditions like meningomyelocele repair, twin-to-twin transfusion syndrome, and fetal cardiac malformations.