Clinical utility of combined preimplantation genetic testing methods in couples at risk of passing on beta thalassemia/hemoglobin E disease: A retrospective review from a single center

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.

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DISCREPANCY BETWEEN HAEMOGLOBIN, RDW, AND MEAN CORPUSCULAR VALUES IN PATIENTS WITH BETA THALASSEMIA / HEMOGLOBIN E DISEASE AND BETA THALASSEMIA TRAIT

INDONESIAN JOURNAL OF CLINICAL PATHOLOGY AND MEDICAL LABORATORY ◽

10.24293/ijcpml.v25i3.1459 ◽

2019 ◽

Vol 25 (3) ◽

pp. 343

Author(s):

Vinisia Setiadji ◽

Bidasari Lubis ◽

Adi Koesoema Aman ◽

Herman Hariman

Keyword(s):

Beta Thalassemia ◽

Hemoglobin E ◽

Thalassemia Trait ◽

Hemoglobin E Disease

Thalassemia beta / hemoglobin E adalah suatu kondisi dengan heterozigot ganda gen pembawa thalassemia beta dan hemoglobin E. Hal ini menyebabkan kondisi dengan gambaran fenotip yang berat dibandingkan trait thalassemia beta dan trait hemoglobin E. Secara logika, nilai mean corpuscular dari thalassemia beta / hemoglobin E seharusnya memburuk. Pada penelitian ini, kami meneliti sebelas kasus dari dua keluarga dengan anggota menderita thalassemia beta / hemoglobin E.Pada keluarga-1 dua anggota dengan trait thalassemia beta memiliki nilai MCV 68 fL dan 65 fL, dan nilai MCH 21 pg dan 20 pg. Pada keluarga-2 anggota dengan trait thalassemia beta memiliki nilai MCV 60,2 fL dan MCH 18,8 pg. Anak perempuan dari kedua keluarga dengan thalassemia beta / hemoglobin E memiliki nilai mean ± SD MCV 70,8 ± 4,9 fL dan MCH 22.8 ± 2.3 pg, nilai ini signifikan lebih tinggi daripada trait thalassemia beta (p<0.05). Terdapat perbedaan yang signifikan antara nilai hemoglobin dan RDW antara thalassemia beta / hemoglobin E (p=0.001).Kami juga menemukan bahwa nilai MC dari keadaan post-transfusi signifikan lebih tinggi daripada pre-transfusi (p<0.001)Kami menyimpulkan bahwa nilai MC dari thalassemia beta / hemoglobin E secara persisten lebih tinggi daripada trait thalassemia beta. Peran transfusi darah pada pasien dengan thalassemia beta / hemoglobin E tampak memainkan peran dalam diskrepansi pada kasus ini.

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Prenatal and Preimplantation Genetic Diagnosis of Huntington's Disease

10.21926/obm.neurobiol.2101085 ◽

2021 ◽

Vol 5 (1) ◽

Author(s):

Joep P.M. Geraedts ◽

Keyword(s):

At Risk ◽

Genetic Testing ◽

Huntington's Disease ◽

Huntington’S Disease ◽

Preimplantation Genetic Diagnosis ◽

Genetic Diagnosis ◽

Preimplantation Genetic Testing ◽

Dominant Disease ◽

Pros And Cons ◽

Disease Free

Huntington’s disease (HD) is an autosomal dominant disease that immensely impacts the affected families. However, the transmission of the disease from carriers to their offspring could be prevented. Prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are the only two available reproductive options for the carriers at risk to have disease-free children. PND for HD could be done through two kinds of genetic testing: direct and indirect. The same approaches are available for preimplantation genetic testing. In addition, a third alternative is nondisclosure testing, which is only available in the case of PGD. The pros and cons of different approaches are discussed. However, only a relatively few at-risk parents opt for PND and PGD. Furthermore, compared to PND, PGD is even more seldom opted for as a reproductive option.

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ToxNav germline genetic testing and PROMinet digital mobile application toxicity monitoring: Results of a prospective single‐center clinical utility study—PRECISE study

Cancer Medicine ◽

10.1002/cam4.2529 ◽

2019 ◽

Vol 8 (14) ◽

pp. 6305-6314

Author(s):

Lennard Y. W. Lee ◽

Thomas Starkey ◽

Shivan Sivakumar ◽

Susan Fotheringham ◽

Guy Mozolowski ◽

...

Keyword(s):

Genetic Testing ◽

Mobile Application ◽

Clinical Utility ◽

Single Center ◽

Toxicity Monitoring ◽

Precise Study

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Karyomapping in Preimplantation Genetic Testing of Patients with Beta-thalassemia and Sickle Cell Anemia

Anadolu Kliniği Tıp Bilimleri Dergisi ◽

10.21673/anadoluklin.438117 ◽

2019 ◽

Vol 24 (1) ◽

pp. 59-66

Author(s):

Serdar Coskun

Keyword(s):

Genetic Testing ◽

Sickle Cell ◽

Sickle Cell Anemia ◽

Beta Thalassemia ◽

Preimplantation Genetic Testing

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Combined PGT for Breast Cancer and Other Inherited Conditions

Obstetrics Gynecology and Reproductive Sciences ◽

10.31579/2578-8965/112 ◽

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.

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Outcomes of pregnancies complicated by beta-thalassemia/hemoglobin E disease

International Journal of Gynecology & Obstetrics ◽

10.1016/j.ijgo.2008.10.012 ◽

2008 ◽

Vol 104 (3) ◽

pp. 203-205 ◽

Cited By ~ 11

Author(s):

Suchaya Luewan ◽

Kasemsri Srisupundit ◽

Theera Tongsong

Keyword(s):

Beta Thalassemia ◽

Hemoglobin E ◽

Hemoglobin E Disease

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Preimplantation genetic testing for inherited immunodeficiency

Hematology & Transfusion International Journal ◽

10.15406/htij.2018.06.00187 ◽

2018 ◽

Vol 6 (6) ◽

Author(s):

Svetlana Rechitsky ◽

Tatiana Pakhalchuk ◽

Maria Prokhorovich ◽

Geraldine San Ramos ◽

Oleg Verlinsky ◽

...

Keyword(s):

At Risk ◽

Genetic Testing ◽

Hla Typing ◽

Healthy Children ◽

Preimplantation Genetic Testing ◽

Chromosomal Disorders ◽

Inherited Immunodeficiency ◽

Congenital Immunodeficiency ◽

Practical Tool ◽

Genetic And Chromosomal Disorders

Preimplantation genetic testing (PGT) has become a practical tool for at risk couples to avoid affected pregnancies and have a healthy progeny free from genetic and chromosomal disorders. PGT is also an option for stem cell transplantation treatment through combining PGT with preimplantation HLA typing for couples with children affected by congenital disorders, for whom no other alternative therapies are available, such as for congenital immunodeficiency. We present here our experience of 135 PGT cycles performed for 74 couples at risk for producing offspring with 18 different congenital immunodeficiencies, resulting in birth of 54 healthy children free from inherited immunodeficiency, which is one of the world’s largest PGT series for immunodeficiency.

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The shortcut strategy for beta thalassemia prevention

Hematology Reports ◽

10.4081/hr.2018.7530 ◽

2018 ◽

Vol 10 (2) ◽

Cited By ~ 2

Author(s):

Narutchala Suwannakhon ◽

Khajohnsilp Pongsawatkul ◽

Teerapat Seeratanachot ◽

Khwanruedee Mahingsa ◽

Arunee Pingyod ◽

...

Keyword(s):

At Risk ◽

High Resolution ◽

Mutation Detection ◽

Beta Thalassemia ◽

Dna Melting ◽

Hemoglobin E ◽

Blood Tests ◽

Hrm Analysis ◽

Hemoglobin A2 ◽

Thalassemia Mutation

We propose antenatal blood tests using high-resolution DNA melting (HRM) analysis for beta thalassemia mutation detection after hemoglobin A2 estimation as a modified strategy for the identification of beta thalassemia at-risk couples. Antenatal blood samples of 1,115 couples were transferred from the antenatal care clinic. Hemoglobin A2 was quantified, and proportions ≥3.5% were further assessed for beta thalassemia mutation using HRM analysis. Twelve types of beta thalassemia mutations, including hemoglobin E, were identified. There were 23 couples who were detected as at-risk. All at-risk couples were identified within 7 working days after sample receipt. Prenatal diagnosis revealed 6 affected fetuses. One fetus was homozygous CD17 (AT), and five fetuses exhibited beta0 – thalassemia/ hemoglobin E disease. These results were consistent with the outcomes calculated using the Hardy-Weinberg equation. Antenatal blood tests for mutation detection using high-resolution DNA melting analysis after hemoglobin A2 estimation is a feasible laboratory method for the recruitment of couples with a fetus that is at risk for beta thalassemia. This modified strategy is cost-effective and may be beneficial for use in a beta thalassemia prevention program.

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