scholarly journals Pregnancy outcomes of reciprocal translocation carriers with two or more unfavorable pregnancy histories: before and after preimplantation genetic testing

2019 ◽  
Vol 36 (11) ◽  
pp. 2325-2331 ◽  
Author(s):  
Caiyi Huang ◽  
Wenjie Jiang ◽  
Yueting Zhu ◽  
Hongchang Li ◽  
Juanjuan Lu ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pregnancy Outcomes ◽  
Reciprocal Translocation ◽  
Preimplantation Genetic Testing ◽  
Before And After

A Comparison of Pregnancy Outcomes in Patients Undergoing Donor Egg Single Embryo Transfers With and Without Preimplantation Genetic Testing

2018 ◽  
Vol 26 (12) ◽  
pp. 1661-1665 ◽  
Author(s):  
Alexis K. Masbou ◽  
Jenna B. Friedenthal ◽  
David H. McCulloh ◽  
Caroline McCaffrey ◽  
M. Elizabeth Fino ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pregnancy Outcomes ◽  
Implantation Rate ◽  
Live Birth Rate ◽  
Oocyte Donation ◽  
Single Embryo Transfer ◽  
Freezing Process ◽  
Preimplantation Genetic Testing ◽  
Comparison Groups ◽  
Donor Egg

Two of the many milestone developments in the field of assisted reproduction have been oocyte donation and preimplantation genetic testing for aneuploidy (PGT-A). Because it has been demonstrated that even young women produce a meaningful proportion of aneuploid embryos, screening out such abnormalities could potentially increase the efficacy of donor egg (DE) cycles. In this retrospective cohort study, we investigated the effect of PGT-A on DE cycle outcomes, including implantation rate (IR), spontaneous abortion rate (SABR), and ongoing pregnancy/live birth rate. We used fresh and frozen donor cycles not using PGT-A as comparison groups; all cases involved single embryo transfer. Data analysis revealed that PGT-A did not improve pregnancy outcome metrics in DE cycles, although there was a trend toward decreasing the SABR. There was a significant increase in IR with fresh cycles outperforming all frozen cycles. Overall, these results suggest that the benefits of performing PGT-A on embryos derived from young DEs may be limited and that there is an effect of the freezing process on pregnancy outcomes. These findings may provide useful insights into the science and practice of PGT-A across all of its applications.

scholarly journals Do donor oocyte recipients benefit from preimplantation genetic testing for aneuploidy(PGT-A) to improve pregnancy outcomes?

2018 ◽  
Vol 110 (4) ◽  
pp. e72-e73
Author(s):  
N. Doyle ◽  
M. Gainty ◽  
J.O. Doyle ◽  
M. Levy ◽  
A.H. DeCherney ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Pregnancy Outcomes ◽  
Preimplantation Genetic Testing ◽  
Donor Oocyte

scholarly journals Case Report: Preimplantation Genetic Testing and Pregnancy Outcomes in Women With Alport Syndrome

2021 ◽  
Vol 12 ◽  
Author(s):  
Wei-Hui Shi ◽  
Mu-Jin Ye ◽  
Song-Chang Chen ◽  
Jun-Yu Zhang ◽  
Yi-Yao Chen ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Kidney Disease ◽  
Pregnancy Outcomes ◽  
Alport Syndrome ◽  
Kidney Diseases ◽  
High Rate ◽  
Singleton Pregnancy ◽  
Fetal Outcomes ◽  
Preimplantation Genetic Testing ◽  
Monogenic Diseases

BackgroundAlport syndrome, a monogenic kidney disease, is characterized by progressive hemorrhagic nephritis, sensorineural hearing loss, and ocular abnormalities. Mutations in COL4A5 at Xq22 accounts for 80–85% of X-linked Alport syndrome patients. Three couples were referred to our reproductive genetics clinic for prenatal or preconception counseling.MethodsPrenatal diagnoses were performed by amplifying targeted regions of COL4A5. Targeted next-generation sequencing (NGS)-based haplotype analysis or karyomapping was performed in two patients. Pregnancy outcomes in the three patients were collected and analyzed. Published Alport syndrome cases were searched in Pubmed and Embase.ResultsPrenatal diagnoses in two cases showed one fetus harbored the same pathogenic mutation as the proband and the other was healthy. The couple with an affected fetus and the patient with a family history of Alport syndrome chose to take the preimplantation genetic testing (PGT) procedure. One unaffected embryo was transferred to the uterus, and a singleton pregnancy was achieved, respectively. Two patients presented non-nephrotic range proteinuria (<3 g/24 h) during pregnancy and the three cases all delivered at full-term. However, published Alport cases with chronic kidney disease or proteinuria during pregnancy were came with a high rate (75%) of adverse maternal and fetal outcomes.ConclusionThe PGT procedure performed in this study was proven to be practicable and might be expanded to be applied in other monogenic diseases. Moderate or severe renal impairments in Alport syndrome were strongly associated with adverse maternal and fetal outcomes, and baseline proteinuria was a potential predictor for pregnancy outcomes of Alport syndrome as other kidney diseases.

scholarly journals Successful Birth After Preimplantation Genetic Testing for a Couple With Two Different Reciprocal Translocations and Review of the Literature

2020 ◽  
Author(s):  
Dun Liu ◽  
Chuangqi Chen ◽  
Xiqian Zhang ◽  
Mei Dong ◽  
Tianwen He ◽  
...  
Keyword(s):  
Genetic Counseling ◽  
Genetic Testing ◽  
Reciprocal Translocation ◽  
Carrier Status ◽  
Review Of The Literature ◽  
Preimplantation Genetic Testing ◽  
Reciprocal Translocations ◽  
Translocation Breakpoints ◽  
Next Generation Sequencing Ngs ◽  
Low Coverage

Abstract Background: Preimplantation genetic testing for chromosomal structural rearrangements (PGT-SR) is widely applied in couples with single reciprocal translocation to increase the chance for a healthy live birth. However, limited knowledge is known on the data of PGT-SR when both parents have a reciprocal translocation. Here, we for the first time present a rare instance of PGT-SR for a non-consanguineous couple in which both parents carried an independent balanced reciprocal translocation and show how relevant genetic counseling data can be generated.Methods: The precise translocation breakpoints were identified by whole genome low-coverage sequencing (WGLCS) and Sanger sequencing. Next-generation sequencing (NGS) combining with breakpoint-specific polymerase chain reaction (PCR) was used to define 24-chromosome and the carrier status of the euploid embryos.Results: Surprisingly, 66.7% day-5 blastocysts were found to be balanced for maternal reciprocal translocation while being normal for paternal translocation and thus transferable. The transferable embryo rate was significantly higher than that which would be expected theoretically. Transfer of one balanced embryo resulted in the birth of a healthy boy. Conclusion(s): Our data of PGT-SR together with a systematic review of the literature should help in providing couples carrying two different reciprocal translocations undergoing PGT-SR with more appropriate genetic counseling.

P–602 Pregnancy outcomes of progestin primed ovarian stimulation protocol, GnRH antagonist protocol and GnRH agonist protocol for young patients undergoing PGT-M

2021 ◽  
Vol 36 (Supplement_1) ◽  
Author(s):  
Y Li ◽  
W Zhao ◽  
X Liang
Keyword(s):  
Genetic Testing ◽  
Gnrh Agonist ◽  
Pregnancy Outcomes ◽  
Ovarian Stimulation ◽  
Gnrh Antagonist ◽  
Young Patients ◽  
Stimulation Protocol ◽  
Preimplantation Genetic Testing ◽  
Gnrh Antagonist Protocol ◽  
Antagonist Protocol

Abstract Study question To investigate the pregnancy outcomes of progestin primed ovarian stimulation protocol, GnRH antagonist protocol and GnRH agonist protocol for young patients undergoing preimplantation genetic testing for monogenic gene diseases. Summary answer PPOS protocol could reduce the normal chromosome formation and further development potential of embryos, suggesting that the PPOS protocol should be used cautiously. What is known already GnRH antagonist protocol (GnRHant) and GnRH agonist protocol (GnRHa) have been used in clinic for many years as routine regimens, and their ovarian stimulation effects and pregnancy outcomes have been confirmed by a large number of literatures. As a new protocol in recent years, the reports of pregnancy outcomes of progestin primed ovarian stimulation protocol (PPOS) are inconsistent. Study design, size, duration This retrospective cohort study was performed in a reproduction center from a tertiary hospital between September 2018 and November 2020 which included 147 young patients (<35 year old) undergoing preimplantation genetic testing for monogenic gene diseases (PGT-M) after stimulated by progestin primed ovarian stimulation protocol (n = 44), GnRH antagonist protocol (n = 60) or GnRH agonist protocol (n = 43). Participants/materials, setting, methods This study included 147 young patients (<35 year old) undergoing preimplantation genetic testing for monogenic gene diseases (PGT-M) after stimulated by progestin primed ovarian stimulation protocol (PPOS, n = 44), GnRH antagonist protocol (GnRHant, n = 60) or GnRH agonist protocol (GnRHa, n = 43). The primary outcomes were normal karyotype embryo rate and live birth rate. The embryological and clinical outcomes were measured. Main results and the role of chance Basic characteristics such as infertility duration, age, and body mass index (BMI) were comparable in study groups. No significant difference was found in the number oocytes retrieved or viable embryos between the groups. Normal karyotype embryo rate of PPOS protocol was significantly lower than GnRHant and GnRHa protocol (57.6% for PPOS vs 76.0% for GnRHant vs 67.3% for GnRHa). No significant difference were found in chemical pregnancy rate (77.3% for PPOS vs 73.3% for GnRHant vs 74.4% for GnRHa) or clinical pregnancy rate (69.8% for PPOS vs 71.7% for GnRHant vs 72.5% for GnRHa). While live birth rate of PPOS protocol was significantly lower than GnRHant and GnRHa protocol ( 45.5% for PPOS vs 58.3% for GnRHant vs 72.2% for GnRHa). Limitations, reasons for caution This is a preliminary study which needs to be further confirmed by large-scale clinical studies. Wider implications of the findings: Although this is a preliminary study which needs to be further confirmed by large-scale clinical studies, the current results suggest that the application of PPOS should be cautious. Trial registration number -

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