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Prenatal diagnosis of de novo deletions of 8p23.1 or 15q26.1 in two fetuses with diaphragmatic hernia and congenital heart defects
Author(s) -
López Isabel,
Bafalliu Juan A.,
Bernabé M. Carmen,
García Francisco,
Costa Miguel,
GuillénNavarro Encarna
Publication year - 2006
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.1468
Subject(s) - congenital diaphragmatic hernia , prenatal diagnosis , diaphragmatic hernia , prenatal ultrasound , subtelomere , fetus , medicine , heart defect , abnormality , diaphragm (acoustics) , diaphragmatic breathing , chromosome , hernia , heart disease , pathology , genetics , biology , pregnancy , surgery , gene , physics , alternative medicine , psychiatry , acoustics , loudspeaker
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. Copyright © 2006 John Wiley & Sons, Ltd.