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

摘要

OBJECTIVE: 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. METHODS: Ecographic examination of the fetus. GTG banded chromosome and FISH analysis using subtelomeric probes on amniocytes. RESULTS: 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). CONCLUSION: 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.