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Postnatal genetic umbilical cord analysis for earliest possible detection of inherited hearing impairment
Manuel Christoph Ketterer1, Ralf Birkenhäger2,3, Rainer Beck2
1Department of Otorhinolaryngology-Head and Neck Surgery, Faculty of Medicine, Medical Center-University of Freiburg, University of Freiburg, Killianstrasse 5, 79106, Freiburg, Germany. manuel.christoph.ketterer@uniklinik-freiburg.de.
Insights
Postnatal genetic umbilical cord analysis offers the earliest detection of hereditary hearing loss in newborns. This method is sufficient for identifying genetic defects, enabling timely clinical care for affected siblings.
Area of Science:
- Genetics
- Otolaryngology
- Pediatrics
Background:
- Hearing impairment is a common sensorineural disorder, with 60% of prelingual cases being genetic.
- Early diagnosis of genetic hearing defects is crucial for parents of deaf children.
- Familial genetic hearing disorders necessitate early detection in subsequent children.
Purpose of the Study:
- To demonstrate the efficacy of postnatal genetic umbilical cord analysis for early detection of hearing impairment.
- To establish umbilical cord analysis as a sufficient method for identifying genetic hearing defects.
- To provide timely information to parents regarding their newborn's auditory status.
Main Methods:
- Genetic analysis of first-born children with severe hearing impairment.
- Identification of mutations in DFNB1 loci or SLC26A4 gene.
- Genetic analysis of umbilical cords from siblings to detect hereditary mutations.
Main Results:
- Clinical relevant mutations were found in all first-born children.
- Four siblings were identified with hereditary genetic mutations through umbilical cord analysis.
- All diagnosed patients received hearing rehabilitation via cochlear implant surgery.
Conclusions:
- Postnatal genetic umbilical cord analysis provides early and sufficient detection of known genetic hearing disorders.
- Analyzing newborn siblings for genetic defects is advisable when a familial disorder is known.
- Early clinical care planning and parental information are vital for managing genetic hearing loss.
Introduction:
The most common sensorineural disorder in humans is hearing impairment and approximately 60% of prelingual hearing disorders are genetic. Especially parents with a congenital deaf child want to know as early as possible whether their second born child has the same genetic defect or not. The aim of this study is to demonstrate that postnatal genetic umbilical cord analysis is both the earliest detection possibility and sufficient.
Methods:
We included first born children with severe hearing impairment that underwent cochlear implantation. All included patients were analyzed genetically and exhibited mutations of either DFNB1 loci or SLC26A4 gene. Additionally, the umbilical cord of the sibling underwent genetic analysis to detect hereditary genetic mutations as early as possible.
Results:
49 newborn children out of 22 families were included in this study. Genetic analysis revealed clinical relevant mutations in all first born children and in four siblings via umbilical cord analysis. All patients who have been diagnosed with a relevant genetic mutation that caused severe hearing impairment underwent hearing rehabilitation via cochlear implant surgery.
Conclusion:
This study demonstrates the sufficient and early as possible detection of known genetically hearing disorders via umbilical cord analysis. In case of a known familial genetic hearing disorder, it is advisable to analyze newborn siblings for the corresponding genetic defect as soon as possible, to be able to plan and initiate clinical care for the patient as early as possible. It is also extremely important for the parents to obtain clear information about the auditory status of the newborn.
