IVF Empowered by NGS: Redefining Reproductive Medicine Through PGT-A and PGT-M

<p>Genetic disorders remain among the greatest challenges in modern medicine, with over 95% lacking curative therapies. Preimplantation Genetic Testing (PGT) has emerged as a transformative preventive tool, enabling the detection of chromosomal abnormalities (PGT-A) and single-gene disorders (PGT-M) in embryos prior to implantation. At ExpressMed Diagnostics and Research, Bahrain, nearly 700 PGT-A and 25 PGT-M cases have been performed, with a significant impact on reducing miscarriage risk and preventing sickle cell disease transmission. Our data highlight the critical influence of maternal age, with aneuploidy rates rising from ~60% in women under 30 to ~90% in women over 40. In the Gulf region, where consanguinity and genetic disorders are highly prevalent, PGT offers a powerful public health strategy to reduce inherited disease burden, complementing newborn screening and premarital testing. As genomic technologies advance, ensuring accessibility, affordability, and ethical oversight will be essential. PGT represents not only a scientific breakthrough but also a shift in reproductive medicine from treatment to prevention, with profound implications for future generations.</p>

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Publication Details

Journal
Journal of Biochemical and Clinical Genetics
Published
2025-01-01
DOI
https://doi.org/10.24911/ejmcr.9-2356
Primary Topic
Prenatal Screening and Diagnostics
Type
article
Field-Weighted Citation Impact
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article

 IVF Empowered by NGS: Redefining Reproductive Medicine Through PGT-A and PGT-M

Qamre Alam, Mohamed A. Ali, Kadhem Juma Alkhenaizi, Mohamed Ali Ateyah
Journal of Biochemical and Clinical Genetics
Prenatal Screening and Diagnostics
article

 IVF Empowered by NGS: Redefining Reproductive Medicine Through PGT-A and PGT-M

Qamre Alam, Mohamed A. Ali, Kadhem Juma Alkhenaizi, Mohamed Ali Ateyah
article en

Abstract

<p>Genetic disorders remain among the greatest challenges in modern medicine, with over 95% lacking curative therapies. Preimplantation Genetic Testing (PGT) has emerged as a transformative preventive tool, enabling the detection of chromosomal abnormalities (PGT-A) and single-gene disorders (PGT-M) in embryos prior to implantation. At ExpressMed Diagnostics and Research, Bahrain, nearly 700 PGT-A and 25 PGT-M cases have been performed, with a significant impact on reducing miscarriage risk and preventing sickle cell disease transmission. Our data highlight the critical influence of maternal age, with aneuploidy rates rising from ~60% in women under 30 to ~90% in women over 40. In the Gulf region, where consanguinity and genetic disorders are highly prevalent, PGT offers a powerful public health strategy to reduce inherited disease burden, complementing newborn screening and premarital testing. As genomic technologies advance, ensuring accessibility, affordability, and ethical oversight will be essential. PGT represents not only a scientific breakthrough but also a shift in reproductive medicine from treatment to prevention, with profound implications for future generations.</p>

Journal of Biochemical and Clinical Genetics
Protein Express (United States) (US)
Openalex Percentile: Top 56%
Prenatal Screening and Diagnostics
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 IVF Empowered by NGS: Redefining Reproductive Medicine Through PGT-A and PGT-M — Qamre Alam, Mohamed A. Ali, et al. · Journal of Biochemical and Clinical Genetics (2025) | TGRS Research Map | TGRS