Choroid plexus cysts: Is biochemical testing a valuable adjunct to targeted ultrasonography?

Area of Science:

• Prenatal Diagnosis
• Fetal Medicine
• Genetics

Background:

• Fetal choroid plexus cysts are common ultrasonographic findings.
• Determining the risk of chromosomal abnormalities is crucial for patient management.
• Amniocentesis is an invasive procedure with associated risks.

Purpose of the Study:

• To evaluate the utility of biochemical testing as an adjunct to ultrasonography for selecting patients with fetal choroid plexus cysts for amniocentesis.
• To determine if biochemical markers can help identify fetuses with chromosomal abnormalities.

Main Methods:

• A cohort of 128 patients with fetal choroid plexus cysts underwent ultrasonography.
• Patients were divided into three groups: ultrasonography only, ultrasonography with maternal serum alpha-fetoprotein (MSAFP), and ultrasonography with triple-screen (MSAFP, human chorionic gonadotropin, estriol).
• Outcomes were assessed via fetal karyotype or neonatal examination.

Main Results:

• The triple screen identified 14 fetuses with significant chromosomal abnormalities.
• A normal triple screen combined with the absence of additional ultrasonographic anomalies effectively ruled out chromosomal abnormalities.
• Abnormal triple-screen results or the presence of other anomalies prompted recommendations for fetal karyotyping.

Conclusions:

• The triple screen is a valuable tool in conjunction with ultrasonography for risk stratification in fetal choroid plexus cysts.
• A normal triple screen and absence of other anomalies reliably exclude chromosomal abnormalities, making amniocentesis unnecessary.
• Fetal karyotyping is recommended for abnormal triple-screen results, additional ultrasonographic findings, or advanced maternal age.