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Objectives <p>Fetal choroid plexus cysts (CPCs) are common incidental findings during mid-trimester ultrasound. Although typically benign, their detection often causes parental concern because of potential associations with chromosomal abnormalities, particularly trisomy 18. This systematic review summarizes current evidence on the natural history, associated anomalies, and prognostic implications of CPCs to guide prenatal counseling.</p> Methods <p>We systematically searched PubMed, Scopus, Web of Science, Embase, and the Cochrane Library for original studies published between 2010 and 2025. Eligible studies included fetuses with CPCs diagnosed by ultrasound and reported data on anomalies, genetic testing, or pregnancy outcomes. Case reports and reviews were excluded. Two reviewers independently screened and extracted data. Study quality was assessed using the Newcastle–Ottawa Scale and Joanna Briggs Institute checklists. Findings were synthesized qualitatively due to heterogeneity.</p> Results <p>Ten studies met inclusion criteria, comprising over 10,600 screened fetuses, with several hundred CPC cases. Prevalence ranged from 0.5% to 2.5%, most detected between 16 and 22 weeks. Isolated CPCs, particularly in pregnancies with normal biochemical screening or negative non-invasive prenatal testing (NIPT), were not significantly associated with chromosomal abnormalities. By contrast, CPCs with additional sonographic findings showed a markedly increased risk of trisomy 18 and clinically significant copy number variations. Most isolated CPCs resolved spontaneously and were followed by favorable neonatal outcomes.</p> Conclusions <p>Isolated CPCs in the context of low-risk screening should be regarded as benign variants with excellent prognosis, and invasive testing is unnecessary. Conversely, CPCs with additional risk factors require further evaluation, including chromosomal microarray, supporting a risk-adapted approach.</p>

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Natural history and prognostic significance of fetal choroid plexus cysts: a systematic review

  • 期刊论文

  • 出版模式：

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  • 发表日期：

    2026年5月16日

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  • Somayeh Shirazinejad,
  • Hazhir Moradi,
  • Somayeh Khanjani

摘要

Objectives

Fetal choroid plexus cysts (CPCs) are common incidental findings during mid-trimester ultrasound. Although typically benign, their detection often causes parental concern because of potential associations with chromosomal abnormalities, particularly trisomy 18. This systematic review summarizes current evidence on the natural history, associated anomalies, and prognostic implications of CPCs to guide prenatal counseling.

Methods

We systematically searched PubMed, Scopus, Web of Science, Embase, and the Cochrane Library for original studies published between 2010 and 2025. Eligible studies included fetuses with CPCs diagnosed by ultrasound and reported data on anomalies, genetic testing, or pregnancy outcomes. Case reports and reviews were excluded. Two reviewers independently screened and extracted data. Study quality was assessed using the Newcastle–Ottawa Scale and Joanna Briggs Institute checklists. Findings were synthesized qualitatively due to heterogeneity.

Results

Ten studies met inclusion criteria, comprising over 10,600 screened fetuses, with several hundred CPC cases. Prevalence ranged from 0.5% to 2.5%, most detected between 16 and 22 weeks. Isolated CPCs, particularly in pregnancies with normal biochemical screening or negative non-invasive prenatal testing (NIPT), were not significantly associated with chromosomal abnormalities. By contrast, CPCs with additional sonographic findings showed a markedly increased risk of trisomy 18 and clinically significant copy number variations. Most isolated CPCs resolved spontaneously and were followed by favorable neonatal outcomes.

Conclusions

Isolated CPCs in the context of low-risk screening should be regarded as benign variants with excellent prognosis, and invasive testing is unnecessary. Conversely, CPCs with additional risk factors require further evaluation, including chromosomal microarray, supporting a risk-adapted approach.