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Newborn screening for deafness genes with cord blood-based multicolour melting curve analysis
Xianning Dai1, Kai Xu1, Liya Dai1
1Department of Clinical Laboratory, Wenzhou People's Hospital, Wenzhou Women and Children's Hospital, Zhejiang, China.
Insights
Simultaneous newborn screening for hearing and deafness genes in Southeast China identified significant variant prevalence. This approach supports genetic counseling and early diagnosis for sensorineural hearing impairment.
Area of Science:
- Genetics
- Audiology
- Neonatal Medicine
Background:
- Neonatal screening for hearing and genetic factors is crucial for early intervention.
- Understanding the prevalence of deafness-related gene variants in specific populations is essential.
Purpose of the Study:
- To determine the prevalence of simultaneous hearing and genetics screening in neonates.
- To provide evidence for the utility of newborn screening in Southeast China.
Main Methods:
- 27,843 neonates underwent otoacoustic emissions (hearing) and genetic testing for deafness gene variants (GJB2, GJB3, SLC26A4, MTRNR1) using multicolour melting curve analysis.
- Data from June 2015 to March 2023 were analyzed.
Main Results:
- 0.88% failed hearing screening; 4.69% had at least one deafness gene variant.
- GJB2 c.235delC and SLC26A4 c.919-2 A > G were the most common variants.
- A statistically significant difference in variant rates was observed between hearing-screened groups.
Conclusions:
- Cord blood-based melting curve analysis is effective for newborn screening of deafness genes.
- This method aids genetic counseling, prenatal diagnosis, and screening for unknown sensorineural hearing impairment.
- The PCR melting curve analysis is cost-effective, convenient, and suitable for clinical application.
Background:
The purpose of the research was to examine the prevalence rates of screening for genetics and hearing simultaneously in neonates and provide scientific evidence for the beneficial application of newborn screening in the Southeast China population.
Methods:
Between June 2015 and March 2023, 27,843 newborns were enrolled in the study. All participants were screened by otoacoustic emissions at 2 days of age. Fifteen variant hotspots in the four deafness genes (GJB2, GJB3, SLC26A4 and MTRNR1) were detected using multicolour melting curve analysis. Newborn screening data were also analysed.
Results:
In otoacoustic emissions testing, 244 newborns (0.88 %) failed the secondary screening. According to genetic testing, 1307 (4.69 %) newborns had at least one variant. GJB2 c.235delC (2.34 %) and SLC26A4 c.919-2 A > G (0.91 %) were the major deafness-related variants in the Wenzhou area of Southeast China. In addition, a difference in the number of newborns with variants was observed between the passed and failed groups. The difference in the positive rate between the two groups was statistically significant (χ2 = 274.969, P < 0.05).
Conclusions:
Newborn screening for deafness genes by cord blood-based melting curve analysis can be applied to genetic counselling, prenatal diagnosis, and genetic screening of newborns with sensorineural hearing impairment with an unknown cause. The new PCR melting curve analysis approach is more effective and more convenient than SNaPshot and MS-based assay testing. Furthermore, it has a lower cost and is more suitable for clinical testing.
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