Detection of submicroscopic chromosomal aberrations by array-based comparative genomic hybridization in fetuses with congenital heart disease.

[22q11.2 deletion syndrome]

To evaluate the usefulness of array-based comparative genomic hybridization (aCGH ) for prenatal genetic diagnosis of congenital heart disease (CHD ), with and without associated anomalies , and to explore the relationship between submicroscopic chromosomal aberrations and CHD .In this prospective study we investigated 76 consecutive singleton fetuses with abnormal cardiac ultrasound findings , normal karyotype and negative or no fluorescence in -situ hybridization results for 22 q 11 .2 deletion syndrome . All pregnancies underwent aCGH in a comprehensive search for chromosomal aberrations . The relationship between copy number variations (CNVs ) and CHD was determined by comparing clinical findings to chromosomal databases .CNVs that were benign or had no clinical significance were detected in 18 /76 (23 .7 %) cases . CNVs of unknown clinical significance (i .e . VOUS ) were detected in 4 /76 (5 .3 %) cases . Pathogenic CNVs were detected in 5 /76 (6 .6 %) cases . Fetuses with CHD and additional structural abnormalities demonstrated no difference in number of pathogenic CNVs when compared with fetuses with isolated CHD (7 .4 % (n = 2 /27 ) vs 6 .1 % (n = 3 /49 ), P > 0 .05 ).In this study cohort , aCGH analysis significantly improved the detection of submicroscopic chromosomal aberrations in pregnancies with CHD , as compared with conventional cytogenetics . Our results suggest that aCGH can provide additional genetic information in fetuses with abnormal heart findings .

Diseases
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Diseases presenting "additional genetic information in fetuses" symptom

22q11.2 deletion syndrome

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