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[Relationship between the choroid plexus cyst and the aneuploidy]
1Department of Gynecology and Obstetrics, the Second Hospital of Jilin University, Changchun 130041, China.
Zhonghua Yi Xue Za Zhi
|November 6, 2018
Summary
Choroid plexus cysts in early pregnancy may indicate an increased risk of aneuploidy (abnormal chromosome number). However, small, isolated cysts often resolve without impacting fetal outcomes. Noninvasive DNA testing aids in accurate risk assessment.
Area of Science:
- Prenatal diagnosis
- Fetal medicine
- Genetics
Background:
- Choroid plexus cysts (CPCs) are common findings during fetal ultrasound.
- The association between CPCs and fetal aneuploidy requires further clarification.
- Accurate prenatal screening is crucial for genetic counseling.
Purpose of the Study:
- To investigate the relationship between choroid plexus cysts and fetal aneuploidy.
- To evaluate the utility of ultrasound and noninvasive DNA testing in identifying at-risk pregnancies.
- To provide data for informed prenatal consultations.
Main Methods:
- Ultrasound examination of 112 fetuses with CPCs (13-20 weeks gestation).
- Noninvasive DNA testing performed on all cases and 100 controls.
- Invasive karyotype analysis for high-risk noninvasive DNA results.
- Follow-up until birth for prognosis assessment.
Main Results:
- Five fetuses with CPCs had significant malformations.
- Noninvasive DNA testing identified 7 high-risk cases, with 5 undergoing karyotype analysis and confirming aneuploidy.
- One aneuploidy case was detected in the control group.
- Most isolated CPCs <1cm resolved by the second trimester.
Conclusions:
- Early-trimester CPCs are associated with an increased risk of fetal aneuploidy.
- Small, isolated CPCs (<1cm) typically have a good prognosis and resolve.
- Noninvasive DNA testing demonstrates high accuracy for aneuploidy screening, improving invasive testing yield.
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