PGT or ICSI? The impression of NGS-based PGT outcomes in nonmosaic Klinefelter syndrome

Tong, Jing; Zhao, Xiaoming; Wan, Anran; Zhang, Ting

doi:10.4103/aja.aja_30_21

Cited by 7 publications

(2 citation statements)

References 38 publications

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“…Notably, in our study, most chromosomal abnormalities were gonosomal and in particular Klinefelter's, with only a minority being translocations and inversions, in which PGT-A has been shown to reduce miscarriage rate. 44 This finding adds to the controversy as to whether PGT-A should be offered to men with Klinefelter syndrome, 45 although newer technologies such as next-generation sequencing might provide additional benefits in this subgroup of patients. 44 In general, more data are required from future studies to draw a clear conclusion on these still controversial issues, particularly focusing on specific chromosomal anomalies and their effect on pregnancy outcomes.…”

Section: Discussionmentioning

confidence: 94%

The impact of semen parameters on ICSI and pregnancy outcomes in egg recipient cycles with PGT‐A

Grammatis

Pappas²,

Kokkali³

et al. 2023

Andrology

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BackgroundThe egg donation model offers an opportunity to isolate the male factor and evaluate its impact on IVF–intracytoplasmic sperm injection and pregnancy outcomes.ObjectiveTo study the effect of non‐obstructive azoospermia on intracytoplasmic sperm injection and pregnancy outcomes compared with severe oligozoospermia and mild‐to‐moderate oligozoospermia in egg recipient cycles.Materials and methodsThis is a retrospective longitudinal cohort study, including 1594 patients who underwent intracytoplasmic sperm injection in egg recipient cycles with preimplantation genetic testing for aneuploidies. The cohort was divided into three groups: couples with non‐obstructive azoospermia accounting for 479 patients (30%); couples with severe oligozoospermia (sperm number <5 × 106/mL), accounting for 442 patients (27.8%); couples with mild‐to‐moderate oligozoospermia, with sperm number >5 × 106and <15 × 106/mL, accounting for 673 patients (42.2%).ResultsThe fertilisation rate was significantly reduced in the non‐obstructive azoospermia group as compared with the severe oligozoospermia and the mild‐to‐moderate oligozoospermia group: 30.3% versus 63% and 77.3% (p < 0.05). Logistic regression analysis adjusted for confounders highlighted non‐obstructive azoospermia as a negative predictor of obtaining a euploid blastocyst both per injected oocyte and per obtained blastocyst. The miscarriage rate in the non‐obstructive azoospermia group was 11.8%; higher than the severe oligozoospermia and mild‐to‐moderate oligozoospermia groups (7% and 2.7%) (p < 0.05). The live birth rate per embryo transfer (ET) was significantly lower in the non‐obstructive azoospermia group compared with the severe oligozoospermia and the mild‐to‐moderate oligozoospermia group (20.4% vs. 30.3% and 35.4%, p < 0.05). The risk of preterm labour was significantly higher in the non‐obstructive azoospermia group, compared with the severe oligozoospermia and mild‐to‐moderate oligozoospermia group (55.1% vs. 46.8% and 16.1%, p < 0.001), and this difference was observed in both singleton and twin pregnancies.Discussion and conclusionIn our retrospective comparative study, non‐obstructive azoospermia significantly affects early embryonic potential and live birth rates per cycle and per embryo transfer. It is also associated with higher risk of preterm birth. Future prospective multi‐centre studies are needed to highlight the effect of sperm quality on ART and pregnancy outcomes.

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Section: Discussionmentioning

confidence: 94%

The impact of semen parameters on ICSI and pregnancy outcomes in egg recipient cycles with PGT‐A

Grammatis

Pappas²,

Kokkali³

et al. 2023

Andrology

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“…Preimplantation genetic diagnosis (PGD) is a clinically feasible technology for testing genetic defects of embryos fertilized in vitro to achieve a pregnancy without genetic disease. It has been developed mainly for couples carrying severe recessive or X-linked Mendelian disorders, structural chromosome abnormalities or mitochondrial disorders ( 15 ), like Klinefelter syndrome, Cystic fibrosis and DMD ( 16 – 18 ). In addition, it has been reported that early and accurate genetic diagnosis of mutations in DMD could prevent the recurrence of DMD by PGD ( 19 ).…”

Section: Introductionmentioning

confidence: 99%

A novel splicing mutation identified in a DMD patient: a case report

Wen,

Yang,

Shen

et al. 2023

Front. Pediatr.

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BackgroundDuchenne muscular dystrophy (DMD, ORPHA:98896) is a lethal X-linked recessive disease that manifests as progressive muscular weakness and wasting. Mutations in the dystrophy gene (DMD) are the main cause of Duchenne muscular dystrophy.Case presentationThis study aims to determine novel mutations of DMD and help preimplantation genetic diagnosis (PGD) for family planning. Here present a 4-year-old Chinses boy with DMD, whole-exome sequencing (WES) was performed to identify the molecular basis of the disease. It was confirmed that the boy carried a novel hemizygous mutation of NC_000023.11(NM_004006.3): c.5912_5922 + 19delinsATGTATG in DMD which inherited from his mother. This led to the aberrant splicing of DMD which demonstrated by a minigene splicing assay and further resulted in the impairment of the dystrophy protein.ConclusionsOur study discovered a novel splicing mutation of DMD in a DMD patient, which expands the variant spectrum of this gene and provide precise genetic diagnosis of DMD for timely therapy. Meanwhile, this finding will supply valuable information for preimplantation genetic diagnosis.

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Detection of chromosome aberrations in 17 054 individuals with fertility problems and their subsequent assisted reproductive technology treatments in Central China

Yuan,

Jin,

Wang

et al. 2023

Human Reproduction

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STUDY QUESTION How do the types and frequency of chromosome aberrations in couples in central China affect fertility and ART treatment? SUMMARY ANSWER Men with chromosome aberrations or polymorphisms have an increased risk of semen quality impairment and infertility, and couples affected by reciprocal translocations had a lower pregnancy rate compared with other chromosome aberrations. WHAT IS KNOWN ALREADY Karyotyping is crucial for patients affected by infertility as chromosome aberrations play an important role in the etiology of male infertility. However, the influence of chromosome aberrations and polymorphisms on sperm motility and morphology remains controversial. Data on ART treatment outcomes in infertile couples affected by chromosome aberrations are insufficient. STUDY DESIGN, SIZE, DURATION We conducted a retrospective study involving 17 054 patients affected by infertility who underwent karyotyping in our center between January 2020 and May 2022. PARTICIPANTS/MATERIALS, SETTING, METHODS Karyotyping was performed on 17 054 patients with reproductive failure. All patients were from the central regions of China. The following data were collected from a medical records system using patient identification numbers: couples’ ages, history of pregnancy and childbirth, type of infertility, years of infertility, cause of infertility, chromosome karyotypes, semen analysis results, assisted reproductive techniques performed, and treatment outcomes of ART. MAIN RESULTS AND THE ROLE OF CHANCE The incidence of chromosome aberrations was 2.04%; 2.49% in men and 1.57% in women. By analyzing the relationships between chromosome aberrations/polymorphisms and abnormal semen parameters, we found that there were significantly higher rates of asthenozoospermia, oligospermia, and teratozoospermia among men with Robertsonian translocations and sex chromosomal structural aberrations compared with those with normal karyotypes. Higher rates of asthenozoospermia and teratozoospermia were also observed among men with autosomal reciprocal translocations. The incidence of chromosome aberrations in azoospermic men (13.75%), and in men with cryptozoospermia or severe oligospermia (6.97%) was significantly higher than that in men with mild oligospermia or normospermia (0.88–2.12%). In addition, we found that the progressive movement of sperm is impaired in men with Chromosome 21 polymorphisms compared with men with normal karyotypes (39.46% ± 20.51% vs 48.61% ± 18.76%, P = 0.026). The percentage of morphologically normal forms was lower in the chromosomal polymorphism group than in the normal karyotype group (5.01% ± 2.41% vs 5.59% ± 2.14%, P = 0.001), especially in men with polymorphisms on Chromosome 9 (enlarged Chromosome 9 heterochromatin [9qh+]: 4.48% ± 2.22% vs 5.59% ± 2.14%, P = 0.006; pericentric inversion of Chromosome 9 [inv(9)]: 5.09% ± 3.11% vs 5.59% ± 2.14%, P = 0.008). ART treatment was successful in 36.00% of couples affected by chromosome aberrations. However, couples affected by reciprocal translocations achieved a lower pregnancy rate (24.07%), which may be due to the lower euploidy rates (27.31%) when compared with that in other chromosome aberrations. LIMITATIONS, REASONS FOR CAUTION First, although the initial cohort was large, chromosome aberrations were identified in a small number of patients. Second, the observational nature of the study design is limiting. Third, the couples affected by infertility in this study were all outpatients that did not undergo identical comprehensive examinations except for karyotyping, leading to the incomplete collection of medical records. Also, the population included in this study mainly focused on couples affected by infertility, which may not be included in the European Association of Urology (EAU) recommendation on male infertility. WIDER IMPLICATIONS OF THE FINDINGS Men with chromosome aberrations or polymorphisms have an increased risk of semen quality impairment and infertility. Constitutional chromosome analysis is recommended for men affected by infertility and severe oligospermia or azoospermia to facilitate early and appropriate guidance for the most suitable treatment. Carriers of chromosome aberrations can achieve acceptable pregnancy outcomes through IVF. However, couples affected by reciprocal translocations have lower pregnancy rates, and more treatment cycles are needed before a successful pregnancy. A possible explanation may be the fewer euploid embryos obtained. STUDY FUNDING/COMPETING INTEREST(S) This work was supported by Grant 2021YFC2700603 from the National Key Research & Development Program of China. The authors declare no conflicts of interest. TRIAL REGISTRATION NUMBER N/A.

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PGT or ICSI? The impression of NGS-based PGT outcomes in nonmosaic Klinefelter syndrome

Cited by 7 publications

References 38 publications

The impact of semen parameters on ICSI and pregnancy outcomes in egg recipient cycles with PGT‐A

The impact of semen parameters on ICSI and pregnancy outcomes in egg recipient cycles with PGT‐A

A novel splicing mutation identified in a DMD patient: a case report

Detection of chromosome aberrations in 17 054 individuals with fertility problems and their subsequent assisted reproductive technology treatments in Central China

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