Next-generation sequencing (NGS) based preimplantation genetic testing for products of reciprocal translocation (PGT-TR) improves diagnosis of the patients by verification of their classical karyotyping results.

2018 ◽  
Author(s):  
Sebastian Pukszta
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Reciprocal Translocation ◽  
Next Generation ◽  
Preimplantation Genetic Testing ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

scholarly journals Preimplantation Genetic Testing for Thalassemia Through Next- Generation Sequencing of Affected-embryos

2021 ◽  
Author(s):  
Zhanhui Ou ◽  
Yu Deng ◽  
Yunhao Liang ◽  
Zhiheng Chen ◽  
Ling Sun
Keyword(s):  
Prenatal Diagnosis ◽  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Birth Rate ◽  
Normal Karyotype ◽  
Live Birth Rate ◽  
Next Generation ◽  
Preimplantation Genetic Testing ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Abstract Background: To evaluate the ability of next-generation sequencing (NGS) to conduct preimplantation genetic testing (PGT) for thalassemia using affected embryos. Methods: This study included data from 36 couples who underwent PGT for thalassemia without proband and relative pedigrees. NGS results were compared with prenatal diagnosis results.Results: Thirty-six couples (29 α-thalassemia and 7 β-thalassemia) underwent 41 PGT cycles (31 α-thalassemia and 10 β-thalassemia). All biopsied blastocysts received conclusive results from NGS analysis (100%, 217/217). One hundred and sixty (73.7%, 160/217) were determined to be unaffected by thalassemia. PGT-A (PGT for aneuploidy) results showed that 112 (70.0%, 112/160) were euploid. Thirty-four couples were transferred with a single blastocyst (53 frozen embryo transfer (FET) cycles). Thirty-two cycles resulted in clinical pregnancies, and the clinical pregnancy rate was 60.1% (32/53) per FET cycle. Twenty-two cycles (22 couples) resulted in 23 live births and the live birth rate was 43.4% (23/53, 3 cycles were ongoing pregnancy). All 25 cycles’ prenatal diagnosis results and/or thalassemia gene analysis after the delivery were concordant with the NGS-PGT results. Seven cycles were miscarried before 12 weeks’ gestation, and the abortion villus in four cycles showed a normal karyotype and thalassemia results consistent with the NGS-PGT results. Aborted fetus samples from 3 cycles were not available because the pregnancy was less than 5 weeks.Conclusion: NGS can be used to conduct PGT for thalassemia using affected embryos as a reference.Trial registration: Retrospectively registered.

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