TürkiyeDiagnosis and screening
Gene screening in 17 babies with diaphragmatic hernia in Istanbul: nine new candidate genes stand out
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Istanbul, broad gene testing was performed in 17 babies with congenital diaphragmatic hernia. These babies' chromosome tests had been normal. New changes were found in six genes previously linked to this disease. In addition, nine new genes emerged as possible causes. According to the authors, the disease does not have a single genetic cause.
What does it mean for patients and families?
These results may guide genetic counseling for families whose baby is found to have a diaphragmatic hernia during pregnancy. The role of the new genes should be confirmed in more patients.
Source
Scientific paper: Discovery of novel candidate genes for congenital diaphragmatic hernia via whole exome sequencing. Pediatrics International, 2026. DOI: 10.1111/ped.70298 · PubMed 41454640
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Congenital diaphragmatic hernia (CDH)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.