Pregnancy outcome of confined placental mosaicism: meta-analysis of cohort studies.

Published:August 04, 2022DOI:
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      To assess the rate of adverse obstetric and neonatal outcomes in pregnancies diagnosed with confined placental mosaicism vs. unaffected controls.

      Data sources

      Web-based databases searched using relevant keywords and retrieved articles published from 1980 to February 2022.

      Study eligibility criteria

      Observational studies in English language including at least 10 cases of singleton pregnancies with diagnosis of confined placental mosaicism were included. The diagnosis was established after detection of any chromosomal abnormality at chorionic villous sampling for any indication, followed by normal karyotype from amniotic fluid or neonatal leukocytes culture.

      Study appraisal and synthesis of methods

      Two authors independently screened the references for eligibility, data extraction and assessment of methodological quality using the Newcastle-Ottawa scale. All available obstetric and neonatal outcomes were recorded. Random-effect meta-analysis was performed to estimate pooled odds ratios and 95% confidence intervals of available outcomes in pregnancies with and without confined placental mosaicism. Statistical heterogeneity was evaluated with I2 statistics. (PROSPERO: CRD42021260319).


      Of 80 articles reviewed, 8 retrospective matched cohort studies (708 cases of confined placental mosaicism and 11599 unaffected controls) compared cases with and without confined placental mosaicism and were included in the meta-analysis.The risk of delivering small for gestational age neonates was significantly increased in confined placental mosaicism pregnancies according to crude analysis (OR: 2.45, 95%CI: 1.23-4.89, I2 = 72%) and to sensitivity analysis of high-quality studies (OR: 3.65, 95% confidence interval 2.43-5.57, I2 =0%). Similarly, confined placental mosaicism resulted in an increased risk of birthweight <3rd centile (OR: 5.33, 95%CI:l 1.19-24.19, I2= 83%). Subgroup analysis revealed that the risk of delivering small for gestational age neonates was 3-fold higher for confined placental mosaicism excluding trisomy 16, and 11-fold higher for cases including trisomy 16 only vs. unaffected controls, respectively. No difference was found in the risk of low birthweight and preterm birth (<37 weeks’ gestation). Other outcomes were insufficiently reported, therefore they were not analyzed.


      Pregnant women prenatally diagnosed with confined placental mosaicism have an increased risk for impaired fetal growth, suggesting the need for intensified antenatal surveillance.


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