Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects

Abstract

To show the importance of using high-resolution chromosome analysis and FISH-technique for finding subtle chromosomal lesions in prenatal diagnosis specially when there are abnormal ultrasound findings. Ecographic examination of the fetus. GTG banded chromosome and FISH analysis using subtelomeric probes on amniocytes. We report two prenatal cases with congenital diaphragmatic hernia (CDH) and congenital heart defects (CHDs) with different deletions confirmed by FISH: del(8)(p23.1p23.1) and del(15)(q26.1). These cases support the evidence that the regions 15q26.1 and 8p23.1 may play an important role in the development of the diaphragm. A deletion 8p23.1 or 15q26.1 should be considered whenever a CDH and/or a cardiac abnormality are detected on ultrasound.