Prenatal diagnosis of posterior fossa anomalies: additional value of chromosomal microarray analysis in fetuses with cerebellar hypoplasia

Abstract

Objective

To elucidate the relationship between copy number variations (CNVs) detected by high-resolution chromosomal microarray analysis (CMA) and the type of prenatal posterior fossa anomalies (PFAs), especially cerebellar hypoplasia (CH).

Methods

This study involved 77 pregnancies with PFAs who underwent CMA.

Results

Chromosomal aberrations including pathogenic CNVs and variants of unknown significance (VOUS) were detected in 31.2% (24/77) of all cases by CMA and in 18.5 % (12/65) in fetuses with normal karyotypes. The high detection rate of clinically significant CNVs was evident in fetuses with cerebellar hypoplasia (54.55%, 6/11), vermis hypoplasia (33.33%, 1/3) and Dandy-Walker malformation (25.00%, 3/12). Compare with fetuses without other anomalies, cases with CH and additional malformations had the higher CMA detection rate (50.0% vs 77.8%). Three cases of isolated unilateral CH with intact vermis and normal CMA result had normal outcomes. The deletion of 5p15, 6q terminal deletion and X chromosome aberrations were the most frequent genetic defects associated with cerebellar hypoplasia.

Conclusion

Among fetuses with PFA, those with cerebellar hypoplasia, vermis hypoplasia or Dandy-Walker malformation are at the highest risk of clinically significant CNVs. CMA revealed the most frequent chromosomal aberrations associated with CH.

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