Prenatal diagnosis of 17q12 deletion syndrome: from fetal hyperechogenic kidneys to high risk for autism

Abstract

Objective

The linkage between 17q12 microdeletions, renal anomalies and higher risk for neuro-developmental disorders is well described in the literature. The current study presents prenatal diagnosis of normal-sized hyperechogenic fetal kidneys leading to the diagnosis of 17q12 deletion syndrome and autistic spectrum disorder.

Methods:

Over a period of nine years in a single referral center, seven fetuses were diagnosed with hyperechogenic renal parenchyma and followed prospectively. Amniocentesis for molecular diagnosis was performed in all cases, and subsequently five fetuses were found to harbor a 17q12 deletion by chromosomal microarray analysis. Postnatal evaluation was carried out by a developmental neurologist.

Results

Five of the seven fetuses had molecular diagnosis of 17q12 deletion. One patient elected termination of pregnancy. On long term follow up all of the four children showed symptoms consistent with neurodevelopmental disorders.

The two fetuses with no deletion have a normal follow up with regression of the renal hyper-echogenicity.

Conclusions

We report a strikingly high correlation between prenatal hyperechogenic kidneys, 17q12 micro deletion and autistic spectrum disorder with the advantage of optimal prenatal counseling as well as early diagnosis and intervention.

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