Isolated CPCs do not impede development: in the absence of other abnormal findings

by Betsy Bates

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 double-cohort study of children born after midtrimester identification of at least one CPC. Children with aneuploidy or malformations were excluded.

A cohort of 38 children aged 1-7 years was compared with 63 controls in performance on a battery of cognitive, motor, language, and adaptive behavior tests, including Full Scale Intelligence Quotient tests, the Movement Assessment Battery for Children, Developmental Test of Visual-Motor Integration, and the Vineland Adaptive Behavior Scales, among others.

At baseline, the children who had a history of CPCs were slightly younger than controls, with a mean age of 2.85 compared with 4.92. However in all other respects, including gender, socioeconomic status, and gestational age, they were very similar.

Children in both groups had above-average performance and verbal IQs.

They had normal and statistically similar language skills, motor development, and adaptive functioning skills. The socialization skills of the children with CPCs actually outscored the controls.

"We really feel there is no evidence that these children have neurocognitive delays in early childhood," said Dr. Bernier.

"We feel that we should continue to do what most of us are already doing: just reassuring these families" whose ultrasounds show CPCs in the absence of other abnormal findings.