Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies

Traeger-Synodinos, Joanne

doi:10.1111/ijlh.12086

Cited by 12 publications

(8 citation statements)

References 48 publications

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“…Since there are only isolated cells as a template, asymmetric amplification of the different alleles can occur, which can lead to errors in diagnosis. Thus, there are intense technical demands on multiple disciplines whose coordinated efforts are required to successfully perform this procedure [18]. Furthermore, this technique is considerably less accurate than conventional prenatal diagnosis due to the minute amount of cellular material available.…”

Section: Diagnosis: From Protein To Genes To Prenatal Diagnosismentioning

confidence: 99%

Thalassemia 2016: Modern medicine battles an ancient disease

Rund

2015

American J Hematol

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Thalassemia was first clinically described nearly a century ago and treatment of this widespread genetic disease has greatly advanced during this period. DNA‐based diagnosis elucidated the molecular basis of the disease and clarified the variable clinical picture. It also paved the way for modern methods of carrier identification and prevention via DNA‐based prenatal diagnosis. Every aspect of supportive care, including safer blood supply, more regular transfusions, specific monitoring of iron overload, parenteral and oral chelation, and other therapies, has prolonged life and improved the quality of life of these patients. Significant advances have also been made in allogenic bone marrow transplantation, the only curative therapy. Recently, there has been a rejuvenated interest in studying thalassemia at the basic science level, leading to the discovery of previously unknown mechanisms leading to anemia and enabling the development of novel therapies. These will potentially improve the treatment of, and possibly cure the disease. Pathways involving activin receptors, heat shock proteins, JAK2 inhibitors and macrophage targeted therapy, among others, are being studied or are currently in clinical trials for treating thalassemia. Novel types of genetic therapies are in use or under investigation. In addition to the challenges of treating each individual patient, the longer survival of thalassemia patients has raised considerations regarding worldwide control of thalassemia, since prevention is not universally implemented. This review will trace a number of the original medical milestones of thalassemia diagnosis and treatment, as well as some of the most recent developments which may lead to innovative therapeutic modalities. Am. J. Hematol. 91:15–21, 2016. © 2015 Wiley Periodicals, Inc.

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Section: Diagnosis: From Protein To Genes To Prenatal Diagnosismentioning

confidence: 99%

Thalassemia 2016: Modern medicine battles an ancient disease

Rund

2015

American J Hematol

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“…PND is performed once a pregnancy is established, whereas PGT is performed on biopsied samples from embryos generated by IVF and only those embryos found to be free of the disorder are transferred back to the maternal uterus. Therefore, PGT may be considered preferable to PND since the initiated pregnancy has a negligible chance of being affected and hence termination of an affected pregnancy is avoided 12 …”

Section: Hemoglobinopathiesmentioning

confidence: 99%

“…Therefore, PGT may be considered preferable to PND since the initiated pregnancy has a negligible chance of being affected and hence termination of an affected pregnancy is avoided. 12 2 | PREIMPLANTATION GENETIC TESTING PGT (originally termed preimplantation genetic diagnosis, PGD) was first applied in 1990 for the detection of the embryo sex to avoid Xlinked disorders. 13 Since then, technologies have evolved and there is now the ability to apply PGT for the detection of any monogenic disorder (PGT-M), structural chromosomal abnormalities (PGT-SR) and chromosomal aneuploidies (PGT-A).…”

Section: Hemoglobinopathiesmentioning

confidence: 99%

Hemoglobinopathies and preimplantation diagnostics

Mamas

Kakourou

Vrettou

et al. 2022

Int J Lab Hematology

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Hemoglobinopathies constitute some of the most common inherited disorders worldwide. Manifestations are very severe, patient management is difficult and treatment is not easily accessible. Preimplantation genetic testing for monogenic disorders (PGT-M) is a valuable reproductive option for hemoglobinopathy carrier-couples as it precludes the initiation of an affected pregnancy. PGT-M is performed on embryos generated by assisted reproductive technologies and only those found to be free of the monogenic disorder are transferred to the uterus. PGT-M has been applied for 30 years now and β-thalassemia is one of the most common indications. PGT may also be applied for human leukocyte antigen typing to identify embryos that are unaffected and also compatible with an affected sibling in need of hemopoietic stem cell transplantation. PGT-M protocols have evolved from PCR amplification-based, where a small number of loci were analysed, to whole genome amplification-based, the latter increasing diagnostic accuracy, enabling the development of more generic strategies and facilitating multiple diagnoses in one embryo. Currently, numerous PGT-M cycles are performed for the simultaneous diagnosis of hemoglobinopathies and screening for chromosomal abnormalities in the embryo in an attempt to further improve success rates and increase deliveries of unaffected babies.

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“…Данный метод используется для выявления потенциальных анеуплоидий всех 24 хромосом и подразумевает определение плоидности полярных телец или клеток эмбрионов, полученных в условиях in vitro для проведения ЭКО. ПГС сводит к минимуму необходимость рассмотрения прерывания беременности [33]. Известно, что более 50% эмбрионов, полученных в условиях in vitro, имеют генетическую аномалию [34].…”

Section: • том 12 • №unclassified

The health status of children born through assisted reproductive technologies: probable risks and possible complications

Pitskhelauri

Стрижаков

Timokhina

et al. 2018

Akušerstvo, ginekologiâ i reprodukciâ

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Most of the negative consequences for the health and development of children born through assisted reproductive technologies are related to health status of their mothers, i.e. infertility, age and the related metabolic, genetic and epigenetic changes affecting the quality of gametes and pregnancy. Improvement of the current techniques of in vitro fertilization, preimplantation genetic diagnosis and other preventive measures will have a favorable effect on the health status of such children.

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Preimplantation genetic diagnosis, an alternative to conventional prenatal diagnosis of the hemoglobinopathies

Cited by 12 publications

References 48 publications

Thalassemia 2016: Modern medicine battles an ancient disease

Thalassemia 2016: Modern medicine battles an ancient disease

Hemoglobinopathies and preimplantation diagnostics

The health status of children born through assisted reproductive technologies: probable risks and possible complications

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