Amniocentesis and chorionic villus sampling for prenatal diagnosis

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Abstract
Background A major disadvantage of second trimester amniocentesis is that the results are available relatively late in pregnancy (after 16 weeks' gestation). Chorionic villus sampling (CVS) and early amniocentesis can be done in the first trimester of pregnancy and offer an earlier alternative. Objectives To assess comparative safety and accuracy of second trimester amniocentesis, early amniocentesis, transcervical and transabdominal CVS. Search methods We searched the Cochrane Pregnancy and Childbirth Group's Trials Register (January 2008). Selection criteria All randomised trials comparing amniocentesis and CVS by either transabdominal or transcervical route. Data collection and analysis Two review authors independently assessed eligibility and trial quality and performed data extraction. Main results We included a total of 16 randomised studies. One study in a low‐risk population (N = 4606) with a background pregnancy loss of around 2% found that a second trimester amniocentesis will increase total pregnancy loss by another 1%. This difference did not reach statistical significance and the confidence intervals (CI) around this excess risk were relatively large (risk ratio (RR) 1.41; 95% CI 0.99 to 2.00). In the same study, compared with no intervention, the increase in spontaneous miscarriages following second trimester amniocentesis was statistically significant (2.1% versus 1.3%; RR 1.60; 95% CI 1.02 to 2.52). Early amniocentesis is not a safe early alternative to second trimester amniocentesis because of increased pregnancy loss (7.6% versus 5.9%; RR 1.29; 95% CI 1.03 to 1.61) and higher incidence of talipes compared to CVS (RR 4.61; 95% CI 1.82 to 11.66). Compared with a second trimester amniocentesis, transcervical CVS carries a higher risk of pregnancy loss, although the results are quite heterogeneous. One study compared transabdominal CVS with second trimester amniocentesis and found no significant difference in the total pregnancy loss between the two procedures. Transcervical CVS is more technically demanding than transabdominal CVS, with more failures to obtain sample and more multiple insertions. However, the results related to comparative pregnancy loss between transabdominal and transcervical CVS are inconclusive, with significant heterogeneity between studies. Authors' conclusions Second trimester amniocentesis is safer than early amniocentesis or transcervical CVS, and is the procedure of choice for second trimester testing. Transabdominal CVS should be regarded as the procedure of first choice when testing is done before 15 weeks' gestation. Diagnostic accuracy of different methods could not be assessed adequately because of incomplete karyotype data in most studies.