Identification of novel microsatellite markers flanking GJB2 gene in order to use in preimplantation genetic diagnosis of hearing loss: A comparison of whole-genome amplification and semi-nested PCR

Tabatabaei, Zahra; Fard, Mohammad Ali Farazi; Hashemi, Seyyed Alireza; Dianatpour, Mehdi

doi:10.1016/j.ejmg.2019.103796

Cited by 5 publications

(3 citation statements)

References 32 publications

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“…More genetic counseling relating to IVF and PGD procedures should be given to the Muslim population. The PGD would prevent them from performing invasive and risky prenatal tests and does not require a pregnancy termination [ 41 , 42 , 43 ]. Muslim city-dwelling women tended to undergo more pregnancy terminations than village dwellers, where the religious influence was more extensive.…”

Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis and Pregnancy Termination in Jewish and Muslim Women with a Deaf Child in Israel

Amiel,

Na’amnih,

Tarabeih

2023

Children

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Deafness is the most common sensory disability in humans, influencing all aspects of life, However, early diagnosis of hearing impairment and initiating the rehabilitation process are of great importance to enable the development of language and communication as soon as possible. We examined the differences in attitudes towards performing prenatal invasive tests and pregnancy terminations in Jewish and Muslim women in Israel due to deafness. Overall, 953 Israeli women, aged 18–46 years with a mean age of 32.0 (SD = 7.12), were enrolled. Of those, 68.7% were city dwellers and 31.3% were village dwellers, and 60.2% were Muslim women and 39.8% were Jewish women. All participants had a child with a hearing impairment or deafness. The group with no genetic hearing loss performed more prenatal invasive tests and pregnancy terminations than those with genetic hearing loss in both ethnic groups. Jewish women performed more invasive prenatal tests and, consequently, a pregnancy termination. Secular Jewish women more frequently underwent pregnancy terminations due to fetal deafness. Further genetic counseling and information concerning IVF and PGD procedures should be provided to the Muslim population.

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Section: Discussionmentioning

confidence: 99%

Prenatal Diagnosis and Pregnancy Termination in Jewish and Muslim Women with a Deaf Child in Israel

Amiel,

Na’amnih,

Tarabeih

2023

Children

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“…The two primary factors that can affect PGD accuracy in the diagnosis of monogenic disorders are contamination with exogenous DNA and the occurrence of allele drop-out (ADO) [46] . PGD, testing is performed on a single cell, so the risk of misdiagnosis is high in the presence of contamination or ADO [47] . To mitigate this risk, direct mutation detection should be combined with analysis of linked polymorphism markers.…”

Section: The Application Of Preimplantation Genetic Diagnosis To Here...mentioning

confidence: 99%

“…[46] PGD, testing is performed on a single cell, so the risk of misdiagnosis is high in the presence of contamination or ADO. [47] To mitigate this risk, direct mutation detection should be combined with analysis of linked polymorphism markers. Single-nucleotide polymorphism (SNP) genotyping is used to perform linkage analyses and verify the presence of mutations detected by high-throughput sequencing, which can significantly improve the accuracy of PGD.…”

Section: Genetic Diagnosismentioning

confidence: 99%

Preimplantation genetic diagnosis of hereditary hearing loss: a narrative review

Guan

Peng

et al. 2021

J Bio-X Res

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Preimplantation genetic diagnosis (PGD) uses molecular biological techniques to genetically diagnose embryos before in vitro fertilization. The information obtained through PGD can help clinicians select healthy embryos for implantation, prevent the transmission of inherited diseases and help affected families have healthy children. This paper reviews the development of PGD technology, the history of its application to hereditary hearing loss, and the general process of how PGD is applied to screen for hereditary hearing loss. The aim of this review is to demonstrate the reliability of PGD in the primary prevention of hereditary hearing loss, assist clinicians in counseling patients at risk of transmitting an inherited disease, and explore the journey from PGD to in vitro fertilization. Given that the application of PGD technology to hereditary hearing loss varies in different countries and regions, there is still a long way to go before PGD is routinely applied for the primary prevention of hereditary hearing loss.

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Prenatal Testing and Pregnancy Termination Among Muslim Women Living in Israel Who Have Given Birth to a Child with a Genetic Disease

Amiel,

Tarabeih

2023

J Relig Health

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Identification of novel microsatellite markers flanking GJB2 gene in order to use in preimplantation genetic diagnosis of hearing loss: A comparison of whole-genome amplification and semi-nested PCR

Cited by 5 publications

References 32 publications

Prenatal Diagnosis and Pregnancy Termination in Jewish and Muslim Women with a Deaf Child in Israel

Prenatal Diagnosis and Pregnancy Termination in Jewish and Muslim Women with a Deaf Child in Israel

Preimplantation genetic diagnosis of hereditary hearing loss: a narrative review

Prenatal Testing and Pregnancy Termination Among Muslim Women Living in Israel Who Have Given Birth to a Child with a Genetic Disease

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