60. FOUR YEARS EXPERIENCE OF PREIMPLANTATION GENETIC TESTING OF FOUR MONOGENIC DISORDERS (CYSTIC FIBROSIS, BETA-THALASSAEMIA, HEMOPHILIA A AND B)

2019 ◽  
Vol 39 ◽  
pp. e63-e64
Author(s):  
M. Mortarino ◽  
A. Biffignandi ◽  
M. Seia ◽  
L. Restelli ◽  
A. Riccaboni ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Hemophilia A ◽  
Preimplantation Genetic Testing ◽  
Beta Thalassaemia ◽  
Monogenic Disorders

scholarly journals Preimplantation Genetic Testing for Monogenic Disorders

Genes ◽  
2020 ◽  
Vol 11 (8) ◽  
pp. 871 ◽  
Author(s):  
Martine De Rycke ◽  
Veerle Berckmoes
Keyword(s):  
Genetic Testing ◽  
Whole Genome Amplification ◽  
State Of The Art ◽  
Snp Array ◽  
Genetic Data ◽  
Monogenic Disorder ◽  
Preimplantation Genetic Testing ◽  
Monogenic Disorders ◽  
The Cost ◽  
Concurrent Analysis

Preimplantation genetic testing (PGT) has evolved into a well-established alternative to invasive prenatal diagnosis, even though genetic testing of single or few cells is quite challenging. PGT-M is in theory available for any monogenic disorder for which the disease-causing locus has been unequivocally identified. In practice, the list of indications for which PGT is allowed may vary substantially from country to country, depending on PGT regulation. Technically, the switch from multiplex PCR to robust generic workflows with whole genome amplification followed by SNP array or NGS represents a major improvement of the last decade: the waiting time for the couples has been substantially reduced since the customized preclinical workup can be omitted and the workload for the laboratories has decreased. Another evolution is that the generic methods now allow for concurrent analysis of PGT-M and PGT-A. As innovative algorithms are being developed and the cost of sequencing continues to decline, the field of PGT moves forward to a sequencing-based, all-in-one solution for PGT-M, PGT-SR, and PGT-A. This will generate a vast amount of complex genetic data entailing new challenges for genetic counseling. In this review, we summarize the state-of-the-art for PGT-M and reflect on its future.

scholarly journals Universal strategy for preimplantation genetic testing for cystic fibrosis based on next generation sequencing

2019 ◽  
Vol 37 (1) ◽  
pp. 213-222 ◽  
Author(s):  
Sandrine Chamayou ◽  
Maria Sicali ◽  
Debora Lombardo ◽  
Carmelita Alecci ◽  
Carmen Ragolia ◽  
...  
Keyword(s):  
Cystic Fibrosis ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Gene Mutations ◽  
Single Embryo Transfer ◽  
Cystic Fibrosis Gene ◽  
Next Generation ◽  
Preimplantation Genetic Testing ◽  
Preimplantation Stage ◽  
Generation Sequencing

Abstract Purpose We developed and applied a universal strategy for preimplantation genetic testing for all cystic fibrosis gene mutations (PGT-CF) based on next-generation sequencing (NGS). Methods A molecular protocol was designed to diagnose all CF mutations at preimplantation stage. The detection of CF mutations was performed by direct gene sequencing and linkage strategy testing 38 specific SNPs located upstream and inside the gene for PGT-CF. Seventeen couples at risk of CF transmission decided to undergo PGT-CF. Trophectoderm cell biopsies were performed on day 5–6 blastocysts. PGT for aneuploidy (PGT-A) was performed from the same samples. Tested embryos were transferred on further natural cycles. Results PGT was performed on 109 embryos. Fifteen CF mutations were tested. PGT-CF and PGT-A were conclusive for respectively 92.7% and 95.3% of the samples. A mean of 24.1 SNPs was informative per couple. After a single embryo transfer on natural cycle, 81.3% of the transferred tested embryos were implanted. Conclusions The present protocol based on the entire CFTR gene together with informative SNPs outside and inside the gene can be applied to diagnose all CF mutations at preimplantation stage.

scholarly journals Combined PGT for Breast Cancer and Other Inherited Conditions

2022 ◽  
Vol 6 (2) ◽  
pp. 01-05
Author(s):  
Svetlana Rechitsky ◽  
Tatiana Pakhalchuk ◽  
Maria Prokhorovich ◽  
Anver Kuliev
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Genetic Testing ◽  
Genetic Disorder ◽  
Cancer Predisposition ◽  
Considerable Progress ◽  
Genetic Condition ◽  
Preimplantation Genetic Testing ◽  
Inherited Cancer ◽  
Monogenic Disorders

Inherited cancer predisposition is presently one of the major indications for preimplantation genetic testing (PGT), providing an option for couplers at risk to avoid the birth of an offspring with predisposition to cancer. We present here our experience of 35 of 874 PGT cycles for cancer, in which in addition to BRCA1/2 the couples were at risk to another genetic conditions as well, for which PGT was performed together with PGT for breast cancer. This resulted in in birth of 20 mutation free children with not only unaffected for the tested genetic condition, but also without risk of developing cancer. This is a part of our overall PGT series of 6,204 PGT cases for monogenic disorders (PGT-M), with 2,517 resulting births, free of genetic disorder. The accumulated experience, demonstrates considerable progress in using PGT for avoiding the birth of affected children together with avoiding predisposition to cancer.

Single cell and whole genome amplification product validation of preimplantation genetic testing systems for monogenic disorders

2020 ◽  
pp. 63-64
Author(s):  
Е.В. Соловьёва ◽  
О.Р. Канбекова ◽  
Д.И. Жигалина ◽  
Н.А. Скрябин ◽  
Л.И. Минайчева
Keyword(s):  
Genetic Testing ◽  
Single Cell ◽  
Whole Genome Amplification ◽  
Single Cells ◽  
Whole Genome ◽  
Amplification Product ◽  
Preimplantation Genetic Testing ◽  
Monogenic Disorders ◽  
Pathogenic Variants ◽  
Whole Genome Amplification Product

В рамках подготовительных этапов преимплантационного тестирования 9 моногенных заболеваний (ПГT-М) методом гнездовой ПЦР проанализированы 144 локуса (STR и патогенные варианты)109 единичных клеток и 24 образцов продуктов полногеномной амплификации (ПГА) нескольких клеток. Pre-examination single cell validation was performed for preimplantation genetic testing (PGT-M) for 9 monogenic disorders by nested PCR for STR and pathogenic variants. Totally 109 single cells and 24 WGA products (by MDA) were analyzed.

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