Pre-implantation genetic diagnosis (pgd) for heart disease determined by genetic factors

Kuliev, Anver; Pakhalchuk, Tatiana; Rechitsky, Svetlana

doi:10.4172/ica.1000595

Cited by 4 publications

(6 citation statements)

References 7 publications

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“…At RGI, 51 PGD cycles were performed for 14 cardiac diseases, determined by 23 different gene mutations. This resulted in the embryo transfer in 44 of 51 PGD cycles, yielding 29 (66%) unaffected pregnancies and birth of 27 healthy, disease predispositionfree children [55,56]. Results show that PGD may be a realistic option for couples at risk for producing offspring with cardiac disease, determined by inherited predisposition.…”

Section: Cancer and Adult-onset Disorders (Pgt-m)mentioning

confidence: 99%

Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Simpson

Kuliev

Rechitsky

2018

Methods in Molecular Biology

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Preimplantation genetic diagnosis (PGD) can be considered the earliest form of prenatal testing. It was first used in humans over 26 years ago. At its inception, PGD could only be performed for a limited number of genetic disorders. Technological advances in molecular biology and cytogenomics have been utilized in the field of PGD to greatly expand the spectrum of genetic disorders that can now be detected in early human embryos.

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Section: Cancer and Adult-onset Disorders (Pgt-m)mentioning

confidence: 99%

Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Simpson

Kuliev

Rechitsky

2018

Methods in Molecular Biology

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“…The application of PGD can be used in some conditions present at birth, in addition to prevent carrier states that may or may not present later on in life. Holt-Oram syndrome (HOS) was the first heart disease in which PDG was used successfully [125,132]. The features of HOS include ASD and cardiac conduction disorder, which has a variable penetrance.…”

Section: Preimplantation Genetic Diagnosismentioning

confidence: 99%

“…Clinical manifestations may be extremely variable, and may not be present at birth, or present subtly as a sinus bradycardia, as the only clinical sign. So PGD may provide a treatment option to prevent offspring with this genetic diagnosis [117,125,132].…”

Section: Preimplantation Genetic Diagnosismentioning

confidence: 99%

Congenital Heart Disease: Genetic Aspect and Prenatal and Postnatal Counseling

Zubani¹,

Irfan²,

Kouatli³

2018

Congenital Anomalies - From the Embryo to the Neonate

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Cardiac malformation present at birth is an important component of pediatric cardiovascular disease. The etiology of congenital heart disease is multifaceted including environmental, genetic and stochastic factors. With the advancement of cardiac diagnostic and therapeutic techniques in the past decade, with relatively low morbidity and mortality, has led to more and more children with congenital heart disease living to adulthood. Therefore the role of prenatal and postnatal genetic counseling becomes even more paramount as there is a higher likelihood of these patients living to adulthood and having families of their own. Prenatal counseling allows for the expectant parents to understand the full ramifications of continuing the pregnancy and possible events after birth. It is a multidisciplinary approach to help parents reach an informed decision on how to best to proceed with the pregnancy. After the birth of the child with congenital heart defects, the course is significantly dependent on the type of cardiac lesion. Postnatally, if the lesion is amenable to surgery, therapeutics intervention is offered. The postnatal counseling session includes the possibility of performing advanced genetic testing to help determine the hereditary potential of the cardiac defect in future offspring.

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“…At the present time there is no appropriate strategies to prevent the realization of cardiac disease in the carries of gene mutations predisposing to this condition, so avoiding the birth of such offspring is becoming quite attractive to couples at risk, through the option of preimplantation genetic testing (PGT), currently performed for increasing number of patients [1][2][3][4]. The available framework of avoiding the birth of affected children involves an expanding carrier screening for identification of individuals at risk, providing them with an option of avoiding the birth of a child with predisposition to cardiac disease, and, instead, to have an offspring free from the genes predisposing to the disease by utilizing of PGT.…”

Section: Introductionmentioning

confidence: 99%

Preimplantation Genetic Testing for Inherited Predisposition to Cardiac Disease

Kuliev¹,

Tatiana²,

Prokhorovich³

et al. 2021

Ann Heart

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Cardiac disease, which is a common condition with genetic predisposition, has become a relatively frequent indication for preimplantation genetic testing (PGT), performed in the last dozen years to provide an option for couplers at risk to avoid the birth of an offspring without predisposition to cardiac disease. We present here our experience of 109 PGT cycles for cardiac disease, resulting in birth of 54 mutation free children, which is a part of our overall PGT series of 6204 PGT cycles for monogenic disorders (PGT-M), with 2,517 resulting births, free of genetic disorders. The accumulated experience, presented below, demonstrates considerable progress in using PGT for avoiding the birth of children with genetic predisposition to cardiac disease.

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Pre-implantation genetic diagnosis (pgd) for heart disease determined by genetic factors

Cited by 4 publications

References 7 publications

Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Overview of Preimplantation Genetic Diagnosis (PGD): Historical Perspective and Future Direction

Congenital Heart Disease: Genetic Aspect and Prenatal and Postnatal Counseling

Preimplantation Genetic Testing for Inherited Predisposition to Cardiac Disease

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