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.

Motivations and Concerns of Women Considering Genetic Testing for Breast Cancer: A Comparison Between Affected and At-Risk Probands

2002 ◽  
Vol 6 (3) ◽  
pp. 203-205 ◽  
Author(s):  
Rachael Brandt ◽  
Ellen Hartmann ◽  
Zonera Ali ◽  
Rosemarie Tucci ◽  
Paul Gilman
Keyword(s):  
Breast Cancer ◽  
At Risk ◽  
Genetic Testing

scholarly journals Short Tandem Repeats Used in Preimplantation Genetic Testing of Β-Thalassemia: Genetic Polymorphisms For 15 Linked Loci in the Vietnamese Population

2019 ◽  
Vol 7 (24) ◽  
pp. 4383-4388
Author(s):  
Dang Tien Truong ◽  
Ngo Van Nhat Minh ◽  
Dinh Phuong Nhung ◽  
Hoang Van Luong ◽  
Do Quyet ◽  
...  
Keyword(s):  
At Risk ◽  
Genetic Testing ◽  
Tandem Repeats ◽  
Drop Out ◽  
Preimplantation Genetic Testing ◽  
Thalassemia Patient ◽  
Gene Assay ◽  
Monogenic Diseases ◽  
Vietnamese Population ◽  
Short Tandem

BACKGROUND: β-thalassemia is one of the most common monogenic diseases worldwide. Preimplantation genetic testing (PGT) of β-thalassemia is performed to avoid affected pregnancies has become increasingly popular worldwide. In which, the indirect analysis using short tandem repeat (STRs) linking with HBB gene to detect different β-globin (HBB) gene mutation is a simple, accurate, economical and also provides additional control of contamination and allele-drop-out ADO. AIM: This study established microsatellite markers for PGT of Vietnamese β-thalassemia patient. METHODS: Fifteen (15) STRs gathered from 5 populations were identified by in silico tools within 1 Mb flanking the HBB gene. The multiplex PCR reaction was optimized and performed on 106 DNA samples from at-risk families. RESULTS: After estimating, PIC values were ≥ 0.7 for all markers, with expected heterozygosity and observed heterozygosity values ranged from 0.81 to 0.92 and 0.53 to 0.86, respectively. One hundred percent of individuals had at least seven heterozygous markers and were found to be heterozygous for at least two markers on either side of the HBB gene. The STRs panel was successfully performed on one at-risk family. CONCLUSION: In general, a pentadecaplex marker (all < 1 Mb from the HBB gene) assay was constituted for β-thalassemia PGT on Vietnamese population.

Expanding insurance coverage for in vitro fertilisation with preimplantation genetic testing: putting the cart before the horse

2021 ◽  
pp. medethics-2020-106940
Author(s):  
Emily C Lisi
Keyword(s):  
Genetic Testing ◽  
High Risk ◽  
Diagnostic Tool ◽  
Insurance Coverage ◽  
Genetic Services ◽  
In Vitro Fertilisation ◽  
Genetic Condition ◽  
Preimplantation Genetic Testing ◽  
Definition Of

Madison Kilbride recently argued that insurance (eg, Centers for Medicare & Medicaid Services (CMS)) should cover in vitro fertilisation with preimplantation genetic testing (IVF-PGT) services for couples at high risk of having a child affected with a genetic condition. She argues that IVF-PGT meets CMS’s definition of ‘medically necessary care’, where such care includes ‘services or supplies needed to diagnose or treat an illness, injury, condition, disease or its symptoms’. Kilbride argues that IVF-PGT satisfies this definition in two ways: as a diagnostic tool and as a treatment. Contradicting Kilbride, however, I argue that IVF-PGT provides neither diagnosis nor treatment under CMS’s definition. Thus, as long as we accept CMS’s definition of medically necessary care—which Kilbride does, explicitly—it follows that IVF-PGT does not count as medically necessary care. Still, there may be other reasons to conclude that IVF-Preimplantation genetic testing should be covered, and so, it would be a mistake to reject Kilbride’s conclusion altogether. The problem is simply that Kilbride’s argument—that the procedure should be covered because it is medically necessary per CMS’s definition—is not sound. I conclude by discussing a number of other genetic services that are not currently being covered despite the fact that (unlike IVF-PGT) they do seem to satisfy CMS’s definition of ‘medically necessary diagnosis or treatment’. These services, I argue, should be provided under CMS before we consider expanding coverage to include elective procedures such as IVF-PGT.

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