First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

Yang, Ih-Jane; Tu, Yi-An; Pan, Song-Po; Huang, Ting-Chi; Chen, Chih-Ling; Lin, Ming-Chia; Tsai, Yi‐Ling; Yao, Yilin; Su, Yi‐Ning; Chen, Shee‐Uan

doi:10.1016/j.tjog.2021.11.030

Cited by 3 publications

(3 citation statements)

References 18 publications

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“…Currently, PGT offers a crucial alternative strategy to avoid the transmission of pathogenic variants for couples diagnosed with rare monogenic diseases through carrier screening or other genetic diagnoses ( Xi et al, 2020 ; Yang et al, 2022a ; Bai et al, 2022 ; Piyamongkol et al, 2022b ; Yang et al, 2022b ; Zhang et al, 2022 ; Xu et al, 2023 ). In mainland China, as of December 2022, there are 93 institutions that can do PGT, which can basically cover all the Chinese people.…”

Section: Discussionmentioning

confidence: 99%

Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB

Tian,

Wang,

Yang

et al. 2023

Front. Genet.

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Hereditary spherocytosis (HS), the most common inherited hemolytic anemia disorder, is characterized by osmotically fragile microspherocytic red cells with a reduced surface area on the peripheral blood smear. Pathogenic variants in five erythrocyte membrane structure-related genes ANK1 (Spherocytosis, type 1; MIM#182900), SPTB (Spherocytosis, type 2; MIM#616649), SPTA1 (Spherocytosis, type 3; MIM#270970), SLC4A1 (Spherocytosis, type 4; MIM#612653) and EPB42 (Spherocytosis, type 5; MIM#612690) have been confirmed to be related to HS. There have been many studies on the pathogenic variants and mechanisms of HS, however, studies on how to manage the transmission of HS to the next-generation have not been reported. In this study, we recruited a patient with HS. Targeted next-generation sequencing with a panel of 208 genes related to blood system diseases detected a novel heterozygous variant in the SPTB: c.300+2dup in the proband. Sanger sequencing of variant alleles and haplotype linkage analysis of single nucleotide polymorphism (SNP) based on next-generation sequencing were performed simultaneously. Five embryos were identified with one heterozygous and four not carrying the SPTB variant. Single-cell amplification and whole genome sequencing showed that three embryos had varying degrees of trisomy mosaicism. One of two normal embryos was transferred to the proband. Ultimately, a healthy boy was born, confirmed by noninvasive prenatal testing for monogenic conditions (NIPT-M) to be disease-free. This confirmed our successful application of PGT in preventing transmission of the pathogenic variant allele in the HS family.

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Section: Discussionmentioning

confidence: 99%

Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB

Tian,

Wang,

Yang

et al. 2023

Front. Genet.

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“…Future promising reproductive options, such as preimplantation genetic diagnosis (PGD), can also be offered to select those embryos not carrying the mutant allele derived from parents and then avoid recurrent of the disease [ 57 ]. A successful pregnancy by PGD to prevent passing on a maternal CDK1C mutation and thus BWS to offspring was recently reported [ 58 ].…”

Section: Discussionmentioning

confidence: 99%

“…A successful pregnancy by PGD to prevent passing on a maternal CDK1C mutation and thus BWS to offspring was recently reported [58].…”

Section: Discussionmentioning

confidence: 99%

Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature

Chen

et al. 2022

Diagnostics

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Background: Beckwith–Wiedemann syndrome (BWS) is a phenotypically and genetically heterogeneous disorder associated with epigenetic/genetic aberrations on chromosome 11p15.4p15.5. There is no consensus criterion for prenatal diagnosis of BWS. Methods: Three BWS patients with their clinical histories, prenatal ultrasonographic features, and results of molecular diagnosis were presented. Likewise, by incorporating the findings of our cases and literature review, the phenotypic spectrum and genotype–phenotype correlations of fetal BWS were summarized, and a practical approach in prenatal diagnosis of BWS was proposed. Results: A total of 166 BWS cases with prenatal features were included for analysis. Common fetal features include abdominal wall defects (42.8%), polyhydramnios (33.1%), and macrosomia (32.5%). Molecular pathologies include methylation changes in imprinting control region 1 and 2 (ICR1 and ICR2), paternal uniparental disomy of chromosome 11p15.5, copy number change involving 11p15, etc. Some genotype–phenotype correlations were observed. However, the broad phenotypic spectrum but limited features manifested by affected fetuses rendering ultrasonographic diagnosis not easy. Conclusions: Molecular tests are used for prenatal diagnosis of BWS suspected by ultrasonography. Methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) is recommended as the first-line molecular tool because it simultaneously detects ICR1/ICR2 methylation statuses and copy numbers that solve the majority of clinical cases in the prenatal scenario.

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First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

Banti,

Kafetzis

2024

J Assist Reprod Genet

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First report of a successful pregnancy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

Cited by 3 publications

References 18 publications

Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB

Integrative preimplantation genetic testing analysis for a Chinese family with hereditary spherocytosis caused by a novel splicing variant of SPTB

Proposal for Practical Approach in Prenatal Diagnosis of Beckwith–Wiedemann Syndrome and Review of the Literature

First case report of a successful delivery of a healthy boy by preimplantation genetic testing for Beckwith-Wiedemann syndrome

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