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Genetic counseling and prenatal diagnosis for hereditary hearing loss in high-risk families
- Source :
- International Journal of Pediatric Otorhinolaryngology. 78:1356-1359
- Publication Year :
- 2014
- Publisher :
- Elsevier BV, 2014.
-
Abstract
- Objective Genetic counseling and prenatal diagnosis are very necessary and accurate to detect hereditary hearing loss, especially in high-risk families. Prenatal diagnosis is testing for diseases or conditions in fetuses before born, which gives parents the chance to prepare psychologically, financially and medically for the probable health and educational needs of the affected neonates. Methods 54 unrelated families with children affected with non-syndromic sensorineural hearing loss were enrolled in the study and received genetic analysis with microarray and DNA sequencing technologies. Genetic counseling was provided to each participating families, and prenatal diagnosis was given to those at risk and would like to know their fetuses’ genotypes and probable hearing statuses. Results Half the cases in the present study were diagnosed with confirmed pathogenic mutations and clear inheritance patterns. After receiving genetic counseling, 24 carrier couples with pathogenic mutations chose to proceed prenatal diagnosis, the results of which were in accordance with the pregnancy outcomes. Infants prenatally detected to be monoallelic mutation carriers and those harbored neither deafness-causing mutations form their parents passed newborn hearing screening and six-month follow-ups, while neonates prenatally detected to be carriers of diallelic or compound heterozygous mutations developed hearing loss after birth. Conclusions With appropriate genetic counseling and support services provided, the genetic testing and the prenatal diagnosis of hearing loss were valued by carrier couples for the information provided for future family planning and probably the preparation for the health and educational needs of the affected neonates.
- Subjects :
- China
Heterozygote
medicine.medical_specialty
Hearing loss
Genetic counseling
Genetic Counseling
Prenatal diagnosis
Deafness
Compound heterozygosity
Connexins
Pregnancy
Prenatal Diagnosis
Genotype
medicine
Humans
Genetic Predisposition to Disease
Genetic Testing
Genetic testing
medicine.diagnostic_test
Obstetrics
business.industry
Membrane Transport Proteins
General Medicine
medicine.disease
Connexin 26
Otorhinolaryngology
Sulfate Transporters
Family planning
Mutation
Pediatrics, Perinatology and Child Health
Female
Sensorineural hearing loss
medicine.symptom
business
Subjects
Details
- ISSN :
- 01655876
- Volume :
- 78
- Database :
- OpenAIRE
- Journal :
- International Journal of Pediatric Otorhinolaryngology
- Accession number :
- edsair.doi.dedup.....72256c8c4ad6c029689e0508692fc722