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LOS ANGELES -- In the absence of genetic abnormalities or malformations, choroid plexus cysts identified on midtrimester ultrasound examinations are not associated with neurocognitive delays in early childhood, Dr. Francois R Bernier reported at the annual meeting of the American Society of Human Genetics.
"We all know choroid plexus cysts create havoc for our patients," remarked Dr. Bernier, who is director of the clinical genetics unit at the University of Calgary (Alta).
He explained that choroid plexus cysts (CPCs) are common findings on ultrasound, easy to identify within the fetal cranium due to the echogenicity of the choriod plexus. They have been identified as one factor associated with an increased risk of Trisomy 18; however, "the strength of that association remains somewhat disputed," he said.
When a CPC is seen on ultrasound, the mother is generally referred for a more extensive work-up, including a "triple test" of biochemical markers.
In the absence of any other risk factors or abnormal findings, most fetuses with CPCs will develop normally, and the belief is that they are at no increased risk of health problems or developmental delays after birth. In fact, most CPCs will disappear.
To strengthen the scientific rationale for that belief, Dr. Bernier and colleagues conducted a retrospective ...