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A role for maternal serum screening in detecting chromosomal abnormalities in fetuses with isolated choroid plexus
T Brown1, M A Kliewer, B S Hertzberg
1Duke University Medical Center, USA. brownt@labcorp.com
Insights
Fetal choroid plexus cysts are rarely associated with chromosome abnormalities. When present, these abnormalities often correlate with other risk factors like advanced maternal age or additional ultrasound findings.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Genetics
Background:
- Choroid plexus cysts (CPCs) are common findings during prenatal ultrasound.
- The association between isolated CPCs and chromosomal abnormalities is debated.
- Understanding risk factors is crucial for accurate genetic counseling.
Purpose of the Study:
- To investigate the prevalence of chromosome abnormalities in fetuses with choroid plexus cysts.
- To examine the relationship between CPCs and genetic anomalies, considering various clinical factors.
- To identify predictors of chromosomal abnormalities in fetuses with CPCs.
Main Methods:
- Prospective multicenter study involving 18,437 fetal scans.
- Identification of 257 fetuses with choroid plexus cysts.
- Analysis of outcomes, including chromosomal analysis, in relation to maternal age, serum screening, race, additional anomalies, and cyst characteristics.
Main Results:
- Chromosomal abnormalities were detected in 5.2% (13/250) of fetuses with CPCs.
- In fetuses with isolated CPCs, the abnormality rate was 2.2% (5/224).
- All fetuses with chromosomal abnormalities had additional risk factors, such as other ultrasound findings or advanced maternal age.
Conclusions:
- Isolated choroid plexus cysts have a low risk of associated chromosomal abnormalities.
- The presence of additional risk factors significantly increases the likelihood of genetic anomalies in fetuses with CPCs.
- Risk stratification using maternal age and ultrasound findings is essential for managing CPCs.
Abstract:
A prospective multicentre study was performed to identify patients with fetal choroid plexus cysts and examine the association between choroid plexus cysts and chromosome abnormalities in the context of variables such as maternal age, serum triple-screen results, race, other prenatally-identified fetal anomalies and cyst characteristics. A total of 18 437 scans were performed in 5 centres and 257 fetuses were identified with choroid plexus cysts. Outcome was available on 250 patients, and of these, chromosomal abnormalities were detected in a total of 13 (5.2 per cent) fetuses. 26 patients in the group had additional ultrasound abnormalities, and 8 of these had fetal chromosome abnormalities. Among the 224 patients with isolated choroid plexus cysts, 5 (2.2 per cent) were found to have chromosomal abnormalities. All cases with identified chromosomal abnormalities were associated with an additional risk factor, such as other ultrasound findings, advanced maternal age or abnormal maternal serum triple-screen results.