Prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by array CGH using uncultured amniocytes in a pregnancy with fetal interrupted aortic arch and atrial septal defect.

We present prenatal diagnosis of de novo interstitial deletions involving 5q23.1-q23.3 and 18q12.1-q12.3 by aCGH using uncultured amniocytes in pregnancy with interrupted aortic arch and atrial septal defect in a fetus. The fetus postnatally manifested facial dysmorphisms and long slender fingers. We discuss the genotype-phenotype correlation and the consequence of haploinsufficiency of FBN2, DTNA and CELF4 in this case.