Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases

Hu, Xiang; Wang, Jing; Li, Yubin; Wang, Yizi; Ding, Chenhui; Zeng, Yanhong; Xu, Yanwen; Zhou, Canquan

doi:10.1371/journal.pone.0139613

Cited by 10 publications

(3 citation statements)

References 33 publications

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“…According to female patients' characteristics, controlled ovulation stimulation (COS) was performed us-ing routine protocols, including a long-or short-acting gonadotropin-releasing hormone (GnRH) agonist protocol, a GnRH antagonist protocol or a mild stimulation protocol, as previously described [20,21]. When the dominant follicle diameter was ≥18 mm as monitored by Bultrasound, human chorionic gonadotropin (HCG) was injected intramuscularly, and ultrasound-guided transvaginal ovarian oocyte retrieval was performed 36 hours later.…”

Section: Controlled Ovulation Stimulation Fertilization and Embryo Cu...mentioning

confidence: 99%

Impact of Spermatozoa Cryopreservation on Clinical Outcomes of Intracytoplasmic Sperm Injection in Patients with Azoospermia: A Retrospective Cross-Sectional Study

Wang¹,

Chen²,

Cheng³

et al. 2022

Clin. Exp. Obstet. Gynecol.

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Background: This study was undertaken to evaluate the effect of cryopreservation on the clinical outcomes of intracytoplasmic sperm injection (ICSI) cycles using sperm retrieved from testicular sperm extraction (TESE) in patients with azoospermia. Methods: This retrospective analysis included the clinical data of 56 pairs of fresh and frozen sperm injection cycles from 56 couples after TESE from January 2019 to December 2021 at the Reproductive Medicine Center of the First Affiliated Hospital of Sun Yat-sen University, of which 42 pairs were ICSI cycles using fresh and frozen sperm from the same TESE procedure. We compared the embryological and laboratory characteristics and pregnancy outcomes of the subsequent first embryo transfer (ET) cycles between the fresh and frozen groups. Results: There were no significant differences in the fertilization, cleavage, good-quality day 3 embryo, blastocyst formation, and good-quality blastocyst rates between the groups. However, when only paired ICSI cycles of fresh and frozen sperm from the same TESE procedure were analyzed, we observed that the good-quality day 3 embryo rate (44.8% vs 33.2%, p = 0.029) and blastocyst formation rate (57.5% vs 41.3%, p = 0.028) in the fresh group were significantly higher than those in the frozen group. Implantation, clinical pregnancy, early miscarriage, and live birth rates of the first ET cycle were not significantly different in either group. Conclusions: ICSI using fresh testicular sperm after TESE in patients with azoospermia appears to yield better embryological and laboratory outcomes than ICSI using cryopreserved testicular sperm, but the success rate of the subsequent first ET cycles does not seem to be affected.

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Section: Controlled Ovulation Stimulation Fertilization and Embryo Cu...mentioning

confidence: 99%

Impact of Spermatozoa Cryopreservation on Clinical Outcomes of Intracytoplasmic Sperm Injection in Patients with Azoospermia: A Retrospective Cross-Sectional Study

Wang¹,

Chen²,

Cheng³

et al. 2022

Clin. Exp. Obstet. Gynecol.

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“…All the patients underwent controlled ovarian stimulation according to our routine protocols, including mid-luteal phase long protocol and antagonist protocol, as previously described in details (14). Recombinant FSH (Gonal-F, Merck-Serono) or a combination of rFSH with hMGs (Menopur, Ferring Pharmaceuticals) was used for controlled ovarian stimulation.…”

Section: Stimulation Protocol Icsi Embryo Culture and Fetmentioning

confidence: 99%

Oocyte Degeneration After ICSI Is Not an Indicator of Live Birth in Young Women

Liu

Zhang

et al. 2021

Front. Endocrinol.

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IntroductionIntracytoplasmic sperm injection (ICSI) was introduced in 1990s as one of the most dramatic breakthroughs in assisted reproductive technology. Even with advances in ICSI technology, this mechanical micromanipulation carries a 5 to 19% risk of oocyte degeneration. Whether the presence of oocyte degeneration reflects the sibling oocyte quality and predicts the sibling embryo development potential and clinical pregnancy outcomes remains controversial. There is no study showing the competence of the sibling embryos from the prospective of cumulative live birth rate. Whether oocyte degeneration is associated with poor quality of the remainder of the cohort remains further to be elucidated.MethodThis retrospective observational study included a total of 488 OPU cycles underwent ICSI with fresh cleavage stage embryo transfer and successive frozen/thawed embryo transfer (FET) cycles from January 2018 to December 2019. All female patients were under the age of 35 years, and underwent ICSI with or without oocyte degeneration (OD). Cycles with at least one oocyte degenerated were defined as oocyte degeneration group (OD group), and cycles with no oocyte degenerated were defined as non-OD group. The OD group was further divided to three subgroups according to different oocyte degeneration rate (<10%, 10-20%, and >20%).ResultsThere were no significant differences with regards to implantation rate (38.5% vs 35.1%, P=0.302), clinical pregnancy rate (54.9% vs 50.3%, P=0.340), and LBR per OPU cycle (47.0% vs 42.9%, P=0.395) between OD and non-OD groups. Initial gonadotropin dosage, E2 level on hCG day and the number of matured oocytes appeared to be independent risk factors for OD. The adjusted odds ratio of live birth rate per OPU cycle were similar in different oocyte degeneration rate subgroups. The ongoing pregnancy/LBR per transfer in FET cycles was not significantly different between OD group and non-OD groups (38.8% vs 43.9%, P=0.439). The cumulative LBR per OPU cycle was also comparable between OD and non-OD group (63.4% vs 64.8%, P=0.760).ConclusionThe results provide cycle-based evidence that the presence of oocyte degeneration after ICSI is not an indicator for predicting the cumulative live birth rate per OPU cycle in young women.

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“…Sixteen β-thalassemia mutations, including CD41-42, IVS-2nt 654, CD17, −28, CD71/72, −29, βE, CD43, −32, −30, Int, CD14/15, CD27/28, CD1/1, CD1/5, and CD31, were covered. The primer sequences and product sizes are shown in Table 1 and all PCRs were performed following the same reaction system and PCR conditions as described previously (18). No chromosome screening was performed in either group.…”

Section: Genetic Testingmentioning

confidence: 99%

Impact of embryo biopsy stage on implantation potential in thalassemias: a propensity score matching study

Wang¹,

Ding²,

Lu³

et al. 2019

Preprint

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Objective: To investigate the impact of biopsy stage on implantation potential of frozen-warmed blastocysts in pre-implantation genetic testing (PGT) cycles for those with thalassemias.Design: Retrospective paired cohort study using propensity score matching (PSM). A time-to-event analysis of Fine-Gray's analysis was used to compare cumulative live birth rate (CLBR). Setting: Single university-affiliated center . Patient(s): A total of 439 PGT couples were included who underwent PGT for thalassemias between 2015 and 2017. Intervention(s): Two biopsy strategies were evaluated; cleavage-stage biopsy (CB) and blastocyststage biopsy (BB). Main Outcome Measure(s): Implantation rate and CLBR. Result(s): A total of 202 ovum pick-up (OPU) cycles from Group CB and 237 OPU cycles from Group BB were included. PSM was conducted for two groups covering characteristics on the OPU cycle and the first frozen-warmed blastocyst transfer (FWBT) cycle , resulting in 140 matched pairs. The implantation rate was significantly lower in the CB group (41.0%, 30.3%, 20.4% in 1st, 2nd and 3rdFWBT cycle respectively, weighted mean 34.2%) than those in the BB group (51.8%, 43.5%, and 40.5% (weighted mean 48.1%), respectively; at P = 0.044, 0.047, 0.039). This was a 28.9% relative reduction ( P = 0.002). The CLBR across three FWBT cycles was significantly higher in the BB group compared with the CB group (80.0% vs. 62.1%, P = 0.032), while the likelihood of LBR was 1.21-fold higher after regression adjustment. Conclusion(s):Cleavage-stage biopsy may partially affect the implantation potential and CLBRs of frozen-warmed blastocysts, compared with blastocyst stage biopsy.

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Clinical Considerations of Preimplantation Genetic Diagnosis for Monogenic Diseases

Cited by 10 publications

References 33 publications

Impact of Spermatozoa Cryopreservation on Clinical Outcomes of Intracytoplasmic Sperm Injection in Patients with Azoospermia: A Retrospective Cross-Sectional Study

Impact of Spermatozoa Cryopreservation on Clinical Outcomes of Intracytoplasmic Sperm Injection in Patients with Azoospermia: A Retrospective Cross-Sectional Study

Oocyte Degeneration After ICSI Is Not an Indicator of Live Birth in Young Women

Impact of embryo biopsy stage on implantation potential in thalassemias: a propensity score matching study

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