4.6 Article

Preimplantation Genetic Diagnosis in Hereditary Hearing Impairment

Journal

DIAGNOSTICS
Volume 11, Issue 12, Pages -

Publisher

MDPI
DOI: 10.3390/diagnostics11122395

Keywords

preimplantation genetic diagnosis (PGD); hereditary hearing impairment; deafness-associated genes; GJB2; OTOF

Funding

  1. National Health Research Institute [NHRI-EX109-10914PI]
  2. Ministry of Science and Technology [110-2314-B-002-189-MY3]
  3. National Taiwan University Hospital [NTUH-110-A157]

Ask authors/readers for more resources

Advances in genomic medicine have revolutionized the diagnostics and counseling for hereditary hearing impairment (HHI), including preimplantation genetic diagnosis (PGD). PGD has been successfully applied to different inheritance modes and phenotypes of HHI, providing parents-to-be with better reproductive choices.
Sensorineural hearing impairment is a common sensory deficit in children and more than 50% of these cases are caused by genetic etiologies, that is, hereditary hearing impairment (HHI). Recent advances in genomic medicine have revolutionized the diagnostics of, and counseling for, HHI, including preimplantation genetic diagnosis (PGD), thus providing parents-to-be with better reproductive choices. Over the past decade, we have performed PGD using the amplification refractory mutation system quantitative polymerase chain reaction (ARMS-qPCR) technique in 11 couples with a history of HHI, namely eight with GJB2 variants, one with OTOF variants, one with SLC26A4 variants, and one with an MITF variant. We demonstrated that PGD can be successfully applied to HHI of different inheritance modes, namely autosomal dominant or recessive, and phenotypes, namely syndromic or non-syndromic HHI. However, certain ethical concerns warrant scrutiny before PGD can be widely applied to at-risk couples with a history of HHI.

Authors

I am an author on this paper
Click your name to claim this paper and add it to your profile.

Reviews

Primary Rating

4.6
Not enough ratings

Secondary Ratings

Novelty
-
Significance
-
Scientific rigor
-
Rate this paper

Recommended

No Data Available
No Data Available