scholarly journals The role of prenatal diagnosis following preimplantation genetic testing for single‐gene conditions: A historical overview of evolving technologies and clinical practice

2020 ◽  
Vol 40 (6) ◽  
pp. 647-651 ◽  
Author(s):  
Tristan Hardy
Keyword(s):  
Clinical Practice ◽  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Single Gene ◽  
Historical Overview ◽  
Preimplantation Genetic Testing

scholarly journals Prognostic role of preimplantation genetic testing for aneuploidy in medically indicated fertility preservation

2020 ◽  
Vol 113 (2) ◽  
pp. 408-416 ◽  
Author(s):  
Jennifer K. Blakemore ◽  
Emma C. Trawick ◽  
James A. Grifo ◽  
Kara N. Goldman
Keyword(s):  
Genetic Testing ◽  
Fertility Preservation ◽  
Prognostic Role ◽  
Preimplantation Genetic Testing

scholarly journals Preimplantation genetic testing

2021 ◽  
Vol 2 (2) ◽  
pp. 52-63
Author(s):  
Ana Jeremić ◽  
Dragana Vuković ◽  
Srna Subanović ◽  
Jovana Broćić ◽  
Biljana Macanović
Keyword(s):  
Genetic Testing ◽  
In Vitro Fertilization ◽  
Success Rate ◽  
Embryo Transfer ◽  
Trinucleotide Repeat ◽  
Chromosomal Abnormalities ◽  
Preimplantation Genetic Testing ◽  
Vitro Fertilization

The application of preimplantation genetic testing (PGT) began in the late 1980s. Pre-implantation genetic testing, as the earliest possible method of prenatal diagnosis, enables the selection of embryos with a normal karyotype for embryo transfer. The use of preimplantation genetic testing has proven to be a useful method in the following three groups of inherited diseases: monogenic disorders (single gene defects), trinucleotide repeat disorders, and chromosomal abnormalities. The success rate of in vitro fertilization (IVF) has increased significantly since the introduction of PGT into clinical practice. This paper presents a literature review with the aim of clearly determining the role of PGT in embryo selection before embryo transfer, as well as the role of this type of testing in increasing the success rate of IVF. One of the goals of the paper is also to review the development of molecular genetic methods that are currently, or have once been, in routine use when performing PGT. The current literature is an indicator of the development and progress of molecular genetics techniques applied in PGT. At the same time, it provides an opportunity and an incentive for further extensive research that will lead to the improvement of preimplantation genetic testing and thus increase the success rate of in vitro fertilization.

The role of cloned genes in the prevention of genetic disease

1988 ◽  
Vol 319 (1194) ◽  
pp. 249-261 ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Disease ◽  
Dna Analysis ◽  
Recombinant Dna ◽  
Single Gene ◽  
Recombinant Dna Technology ◽  
Human Genetic Disease ◽  
Single Gene Disorders ◽  
Current Experience

The application of recombinant DNA technology to the study of human genetic disease promises to increase the scope for carrier detection and prenatal diagnosis. Here we summarize current experience with prenatal diagnosis of single-gene disorders by DNA analysis and highlight some of the technical and organizational problems that remain to be solved.

scholarly journals PREIMPLANTATION GENETIC TESTING: Preimplantation genetic testing for polygenic disease risk

Reproduction ◽  
2020 ◽  
Vol 160 (5) ◽  
pp. A13-A17 ◽  
Author(s):  
Nathan R Treff ◽  
Diego Marin ◽  
Louis Lello ◽  
Stephen Hsu ◽  
Laurent C A M Tellier
Keyword(s):  
Clinical Practice ◽  
Genetic Testing ◽  
Disease Risk ◽  
Population Level ◽  
Standard Of Care ◽  
Primary Objective ◽  
Monogenic Disease ◽  
Preimplantation Genetic Testing ◽  
Polygenic Disease ◽  
Risk Scoring

Since its introduction to clinical practice, preimplantation genetic testing (PGT) has become a standard of care for couples at risk of having children with monogenic disease and for chromosomal aneuploidy to improve outcomes for patients with infertility. The primary objective of PGT is to reduce the risk of miscarriage and genetic disease and to improve the success of infertility treatment with the delivery of a healthy child. Until recently, the application of PGT to more common but complex polygenic disease was not possible, as the genetic contribution to polygenic disease has been difficult to determine, and the concept of embryo selection across multiple genetic loci has been difficult to comprehend. Several achievements, including the ability to obtain accurate, genome-wide genotypes of the human embryo and the development of population-level biobanks, have now made PGT for polygenic disease risk applicable in clinical practice. With the rapid advances in embryonic polygenic risk scoring, diverse considerations beyond technical capability have been introduced.

Preimplantation genetic testing for mucopolysaccharidosis type II: a case report

2021 ◽  
pp. 34-44
Author(s):  
Е.В. Соловьёва ◽  
Л.И. Минайчева ◽  
М.М. Склеймова ◽  
А.О. Фомин ◽  
Е.В. Бройтман ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Hunter Syndrome ◽  
Pathogenic Variant ◽  
Mucopolysaccharidosis Type ◽  
Type Ii ◽  
Mucopolysaccharidosis Type Ii ◽  
Preimplantation Genetic Testing ◽  
Mps Ii ◽  
The Family

Цель: представление клинического случая успешного преимплантационного генетического тестирования моногенного заболевания (ПГТ-М) - мукополисахаридоза второго типа (МПС II, синдром Хантера). Методы. Супружеская пара (32 и 31 год), имеющая ребенка с МПС II, обратилась за проведением ПГТ-М (патогенный вариант гена IDS - c.613delG). У женщины также имелась инверсия хромосомы 10. Для семьи была разработана система таргетного преимплантационного тестирования МПС II, валидирована на единичных лимфоцитах и продуктах полногеномной амплификации. Использовали метод двухраундной ПЦР с детекцией фрагментным анализом. В двух программах экстракорпорального оплодотворения (ЭКО) применяли стандартные протоколы стимуляции суперовуляции, оплодотворение проводили методом ИКСИ (инъекция сперматозоида в цитоплазму ооцита). Биопсию эмбрионов выполняли на пятые сутки развития (один эмбрион на шестые), эмбрионы витрифицировали. ПГТ-М проводили в транспортном варианте по схеме, разработанной на подготовительном этапе. Пренатальную диагностику выполняли методом хорионбиопсии, анализировали кариотип, ген IDS и пол плода. Результаты. При разработке системы были подобраны и протестированы 14 STR-маркеров (коротких тандемных повторов), сцепленных с геном IDS, из которых половина была информативна и давала амплификацию для единичных клеток. Разработанная для семьи система ПГТ-М МПС II включала анализ патогенного варианта гена IDS, семи информативных STR-маркеров, генов AMEL и SRY. Преимплантационное тестирование анеуплоидии не проводилось (пациентка отказалась). В первой программе ЭКО протестировано и рекомендовано к переносу три эмбриона, однако перенос был отложен по желанию супружеской пары. Во второй программе ЭКО пять эмбрионов были протестированы, три рекомендованы к переносу. Проведен криоперенос одного эмбриона мужского пола с нормальной хромосомой X в отношении патогенного варианта гена IDS. Наступила одноплодная беременность. Пренатальная диагностика полностью подтвердила результаты ПГТ-М. Беременность успешно завершилась срочными родами здорового мальчика в июле 2021 года. Заключение Разработанная нами система, успешное проведение всех этапов ЭКО и ПГТ-М и хороший репродуктивный потенциал супружеской пары позволили достичь беременности и рождения здорового ребенка в семье с высоким генетическим риском в отношении МПС II. Aim: we report of our data of successful preimplantation genetic testing (PGT-M) for mucopolysaccharidosis type II (MPS II, Hunter syndrome). Methods. A couple (32 and 31 years old) with Hunter syndrome affected child asked for PGT-M for MPS II (pathogenic variant c.613delG of the IDS gene). In addition, the woman has an inversion of chromosome 10. A system of targeted preimplantation testing was developed for the family, validated on single lymphocytes and whole genome amplification products.. Nested PCR method and fragmentary analysis were used for molecular genetic studies. Two IVF (in vitro fertilization) programs was carried out. Standard protocols for controlled ovarian hyperstimulation with fertilization by ICSI (intracytoplasmic sperm injection) were used. Embryo biopsy was performed on the 5th day of embryo development (day 6th for one embryo), embryos were vitrified. Transport PGT-M (PGT for monogenic/single gene defects) was carried using system created at pre-examination setup. Prenatal diagnosis was performed using the chorion villus biopsy method; karyotype, IDS gene and fetal sex were analyzed. Results. During setup, 14 STR (short tandem repeat) markers linked to the IDS gene were selected and tested, half of them were informative and acceptable for single cells. Developed for the family the PGT-M MPS II system included analysis of a pathogenic variant of the IDS gene, seven informative STR markers, AMEL and SRY genes. No PGT-A (PGT for aneuploidy) was carried out. In the first IVF program, three embryos were tested and recommended for transfer, but the transfer was postponed at the patient request. In the second IVF program, five embryos were tested, three recommended for transfer. Frozen single embryo transfer of normal male embryo at the second of IVF-PGT-M program was carried out. A singleton pregnancy was achieved. Prenatal diagnosis fully confirmed PGT-M results. A healthy boy was delivered in July 2021. Conclusions. The successful implementation IVF-PGT-M with developed system and good reproductive potential of the couple made it possible to achieve pregnancy and the birth of a healthy child in a family with a high genetic risk for MPS II.

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