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Amniocentesis and chorionic villus sampling for prenatal diagnosis
Zarko Alfirevic1, Kate Navaratnam, Faris Mujezinovic
1Department of Women's and Children's Health, The University of Liverpool, First Floor, Liverpool Women's NHS Foundation Trust, Crown Street, Liverpool, UK, L8 7SS.
The Cochrane Database of Systematic Reviews
|September 5, 2017
Summary
Second trimester amniocentesis (AC) and chorionic villus sampling (CVS) are prenatal diagnostic methods. Early AC increased pregnancy loss and congenital anomalies, while transcervical CVS may also carry higher risks compared to second trimester AC.
Area of Science:
- Obstetrics and Gynecology
- Prenatal Diagnosis
- Genetics
Background:
- Fetal cells for genetic testing are obtained via amniocentesis (AC) or chorionic villus sampling (CVS).
- Second trimester AC provides results late in pregnancy, while CVS and early AC offer earlier testing options.
Purpose of the Study:
- To compare the safety and accuracy of various amniocentesis (AC) and chorionic villus sampling (CVS) methods for prenatal diagnosis.
Main Methods:
- Systematic review of 16 randomized trials involving 33,555 women.
- Included comparisons: second trimester AC vs. control, early vs. second trimester AC, CVS vs. second trimester AC, CVS methods, early AC vs. CVS.
- Data assessed for inclusion, risk of bias, and accuracy using the GRADE approach.
Main Results:
- Second trimester AC showed a potential increase in total pregnancy loss (1%) and spontaneous miscarriages compared to no testing.
- Early AC was associated with increased pregnancy loss and congenital anomalies, including talipes, compared to second trimester AC.
- Transcervical CVS may have a higher risk of pregnancy loss than second trimester AC, with heterogeneous results; transabdominal CVS showed no clear difference.
Conclusions:
- Early amniocentesis is not a safer alternative to second trimester amniocentesis due to increased pregnancy loss and anomalies.
- Transcervical chorionic villus sampling might pose a higher risk of pregnancy loss compared to second trimester amniocentesis.
- Diagnostic accuracy could not be fully assessed due to incomplete karyotype data in most studies.

