Preimplantation genetic testing for aneuploidy in uterus transplant patients.
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ABSTRACT:
SUBMITTER: Chattopadhyay R
PROVIDER: S-EPMC8064656 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:Objective The purpose of this study was to evaluate the influence of abnormal semen parameters on embryo aneuploidy based on single nucleotide polymorphism microarray (SNP array). Methods A total of 464 blastocysts from 103 PGT-A cycles were analyzed. The embryo quality and embryo aneuploidy rates were compared between different groups which divided by male semen parameters (sperm concentration, motility, morphology, and DFI) according the WHO criteria (2021). Results The total blastocysts chromosome aneuploidy rate was 42.3% (191/452). In the teratozoospermia group, the good-quality embryo and blastocyst formation rate were lower than the normal group(44.4% vs 60.7%, P <0.01; 33.3% vs 43.5%, P <0.05), The good-quality embryo rate in normal DFI group was significantly higher than high-DFI group (59.0% vs 48.4%, P < 0.05). The blastocyst aneuploidy rate in low sperm concentration group, and high DFI group was no differences between with that in normal sperm concentration and DFI group (47.7% vs 37.8% and 44.7% vs 37.8%, P>0.05). The aneuploid rate of blastocyst in teratozoospermic and asthenozoospermia group was significantly higher than that of normal morphology and motility group (50.0% vs 34.0% and 46.7% vs 33.7%, P<0.05). Conclusion Our study revealed that sperm DFI were positively correlated with blastocyst aneuploidy rate, while sperm motility and sperm morphology rate were negatively correlated with blastocyst aneuploidy rate. Abnormal semen parameters may affect embryo quality and increase the aneuploidy rate of blastocyst chromosomes, suggesting that in clinical practice of assisted reproduction patients with abnormal semen parameters can be treated in advance to improve sperm quality, so as to reduce the impact on embryo quality and achieve a better pregnancy outcome.
| S-EPMC9908608 | biostudies-literature
Project description:There is a high incidence of chromosomal abnormalities in early human embryos, whether they are generated by natural conception or by assisted reproductive technologies (ART). Cells with chromosomal copy number deviations or chromosome structural rearrangements can compromise the viability of embryos; much of the naturally low human fecundity as well as low success rates of ART can be ascribed to these cytogenetic defects. Chromosomal anomalies are also responsible for a large proportion of miscarriages and congenital disorders. There is therefore tremendous value in methods that identify embryos containing chromosomal abnormalities before intrauterine transfer to a patient being treated for infertility-the goal being the exclusion of affected embryos in order to improve clinical outcomes. This is the rationale behind preimplantation genetic testing for aneuploidy (PGT-A) and structural rearrangements (-SR). Contemporary methods are capable of much more than detecting whole chromosome abnormalities (e.g., monosomy/trisomy). Technical enhancements and increased resolution and sensitivity permit the identification of chromosomal mosaicism (embryos containing a mix of normal and abnormal cells), as well as the detection of sub-chromosomal abnormalities such as segmental deletions and duplications. Earlier approaches to screening for chromosomal abnormalities yielded a binary result of normal versus abnormal, but the new refinements in the system call for new categories, each with specific clinical outcomes and nuances for clinical management. This review intends to give an overview of PGT-A and -SR, emphasizing recent advances and areas of active development.
| S-EPMC7349251 | biostudies-literature
Project description:PurposeThis retrospective cohort study aimed to assess and compare the outcomes between cumulative live birth of patients with and without PGT-A and also between prior unsuccessful IVF cycles and PGT-A cycles among patients who experienced IVF but without live birth delivery, and to clarify the effective usage of PGT-A as an in vitro fertilization (IVF) add-on.MethodsA total of 2113 females undergoing IVF with at least one blastocyst were reviewed. Patients in the PGT-A and non-PGT-A groups were further categorized into first-time IVF and prior unsuccessful IVF groups (previous IVF experience but without live birth delivery).ResultsIn the PGT-A group, there were additional oocyte retrieval cycles, fewer transfer cycles per patient, higher clinical pregnancy rates per embryo transfer, and lower miscarriage rates per clinical pregnancy as compared to the non-PGT-A group, all showing significant differences. However, the first-time IVF group with PGT-A had a significantly longer duration from the first oocyte retrieval to the first live birth delivery (LBD) and a significantly lower LBD rate per patient than the non-PGT-A group. The cumulative probability for a first LBD with PGT-A was inferior in the first-time IVF group for women < 35 years, marginally superior in the prior unsuccessful IVF group of women aged 38-40 years, and similar for other groups.ConclusionPGT-A should not be recommended to all patients; however, if the first IVF treatment failed, PGT-A may reduce the patient's burden regardless of age.
| S-EPMC9840739 | biostudies-literature
Project description:Preimplantation genetic testing for aneuploidy (PGT-A) reduces miscarriage risk, increases the success of IVF, shortens time to pregnancy, and reduces multiple gestation rates without compromising outcomes. The progression of PGT-A has included common application of next-generation sequencing (NGS) from single nucleotide polymorphism microarray, quantitative real-time PCR, and array comparative hybridization platforms of analysis. Additional putative advances in PGT-A capability include classifying embryos as mosaic and predicting the presence of segmental imbalance. A critical component in the process of technical validation of these advancements involves evaluation of concordance between reanalysis results and initial testing results. While many independent studies have investigated the concordance of results obtained from the remaining embryo with the original PGT-A diagnosis, compilation and systematic analysis of published data has not been performed. Here, we review results from 26 primary research articles describing concordance in 1271 human blastocysts from 2260 pairwise comparisons. Results illustrate significantly higher discordance from PGT-A methods which utilize NGS and include prediction of mosaicism or segmental imbalance. These results suggest caution when considering new iterations PGT-A.
| S-EPMC8259107 | biostudies-literature
Project description:Chromosome instability is inherent to human IVF embryos, but the full spectrum and developmental fate of chromosome anomalies remain uncharacterized. Using haplotyping-based preimplantation genetic testing for monogenic diseases (PGT-M), we mapped the parental and mechanistic origin of common and rare genomic abnormalities in 2300 cleavage stage and 361 trophectoderm biopsies. We show that while single whole chromosome aneuploidy arises due to chromosome-specific meiotic errors in the oocyte, segmental imbalances predominantly affect paternal chromosomes, implicating sperm DNA damage in segmental aneuploidy formation. We also show that postzygotic aneuploidy affects multiple chromosomes across the genome and does not discriminate between parental homologs. In addition, 6% of cleavage stage embryos demonstrated signatures of tripolar cell division with excessive chromosome loss, however hypodiploid blastomeres can be excluded from further embryo development. This observation supports the selective-pressure hypothesis in embryos. Finally, considering that ploidy violations may constitute a significant proportion of non-viable embryos, using haplotyping-based approach to map these events might further improve IVF success rate.
| S-EPMC8497526 | biostudies-literature
Project description:PurposeTo assess whether preimplantation genetic testing for aneuploidies (PGT-A) at the blastocyst stage improves clinical outcomes compared with transfer of embryos without PGT-A in poor ovarian response (POR) patients.MethodsRetrospective cohort study of IVF cycles from 2016 to 2019 at a single academic fertility center. IVF cycles with POR and four or fewer oocytes retrieved were stratified into PGT-A (n = 241) and non-PGT (n = 112) groups. In PGT-A cycles, trophectoderm biopsy, next-generation sequencing with 24-chromosome screening, and single euploid frozen embryo transfer were performed. In non-PGT cycles, fresh or frozen transfer of untested embryos on day 3 or 5 was performed. Main outcomes included live birth rate and miscarriage rate per retrieval.Result(s)Patients who underwent PGT-A cycles were significantly less likely to reach embryo transfer compared with those who underwent non-PGT cycles (13.7% vs 70.6%). The live birth rate per retrieval did not differ between the PGT-A and non-PGT groups (6.6% vs 5.4%). Overall, the miscarriage rate was low. The PGT-A group demonstrated a significantly lower miscarriage rate per retrieval (0.4% vs 3.6%) as well as per pregnancy (5.9% vs 40.0%) compared with the non-PGT group. The number needed to treat to avoid one clinical miscarriage was 31 PGT-A cycles.Conclusion(s)PGT-A did not improve live birth rate per retrieval in POR patients with four or fewer oocytes retrieved. PGT-A was associated with a lower miscarriage rate; however, a fairly large number of PGT-A cycles were needed to prevent one miscarriage.
| S-EPMC7244670 | biostudies-literature
Project description:PurposeThis study evaluated the potential viability of embryos with low mosaicism level (< 50%) by comparing the clinical outcomes of single mosaic versus euploid blastocyst transfer. In addition, the live birth outcomes for various types of mosaicism with respect to abnormalities in chromosome structure and content were analyzed.MethodsThis study included patients who underwent in vitro fertilization with preimplantation genetic testing for aneuploidy (PGT-A). The PGT-A cycles performed through next-generation sequencing with single euploid or mosaic embryo transfers were included. We collected 299 frozen single embryo transfer cycles-216 single euploid and 83 mosaic-between July 2016 and July 2018. This study analyzed clinical outcomes, including fetal karyotyping by using amniocentesis, gestational age at delivery, and live birth weight after single mosaic embryo transfer.ResultsThe average birth weight of infants in the euploid and mosaic blastocyst transfer groups was 3146.2 and 2997.7 g, respectively. The karyotyping results of prenatal diagnosis in all pregnant women were normal. Our study indicated that mosaic embryos can develop into euploid healthy infants with various levels or types of mosaicism. No significant difference was observed between infants from euploid and mosaic blastocyst transfers.ConclusionIf patients have no euploid embryos, mosaic embryos can be transferred as they have potential for implantation and development into euploid healthy infants. This study is invaluable for counseling clinical results after single mosaic embryo transfers.
| S-EPMC7492347 | biostudies-literature
Project description:Study questionDo donor oocyte recipients benefit from preimplantation genetic testing for aneuploidy (PGT-A)?Summary answerPGT-A did not improve the likelihood of live birth for recipients of vitrified donor oocytes, but it did avoid embryo transfer in cycles with no euploid embryos.What is known alreadyRelative to slow freeze, oocyte vitrification has led to increased live birth from cryopreserved oocytes and has led to widespread use of this technology in donor egg IVF programs. However, oocyte cryopreservation has the potential to disrupt the meiotic spindle leading to abnormal segregation of chromosome during meiosis II and ultimately increased aneuploidy in resultant embryos. Therefore, PGT-A might have benefits in vitrified donor egg cycles. In contrast, embryos derived from young donor oocytes are expected to be predominantly euploid, and trophectoderm biopsy may have a negative effect relative to transfer without biopsy.Study design, size, durationThis is a paired cohort study analyzing donor oocyte-recipient cycles with or without PGT-A performed from 2012 to 2018 at 47 US IVF centers.Participants/materials, setting, methodsVitrified donor oocyte cycles were analyzed for live birth as the main outcome measure. Outcomes from donors whose oocytes were used by at least two separate recipient couples, one couple using PGT-A (study group) and one using embryos without PGT-A (control group), were compared. Generalized estimating equation models controlled for confounders and nested for individual donors contributing to both PGT-A and non-PGT-A cohorts, enabling a single donor to serve as her own control.Main results and the role of chanceIn total, 1291 initiated recipient cycles from 223 donors were analyzed, including 262 cycles with and 1029 without PGT-A. The median aneuploidy rate per recipient was 25%. Forty-three percent of PGT-A cycles had only euploid embryos, whereas only 12.7% of cycles had no euploid embryos. On average 1.09 embryos were transferred in the PGT-A group compared to 1.38 in the group without PGT-A (P < 0.01). Live birth occurred in 53.8% of cycles with PGT-A versus 55.8% without PGT-A (P = 0.44). Similar findings persisted in cumulative live birth from per recipient cycle.Limitations, reasons for cautionPooled clinical data from 47 IVF clinics introduced PGT-A heterogeneity as genetic testing were performed using different embryology laboratories, PGT-A companies and testing platforms.Wider implications of the findingsPGT-A testing in donor oocyte-recipient cycles does not improve the chance for live birth nor decrease the risk for miscarriage in the first transfer cycle but does increase cost and time for the patient. Further studies are required to test if our findings can be applied to the young infertility patient population using autologous oocytes.Study funding/competing interest(s)No external funding was used for this study. There are no conflicts of interest to declare.Trial registration numberN/A.
| S-EPMC7821705 | biostudies-literature
Project description:PURPOSE:In this study, we tested the hypothesis that, in PGT-A cycles, decreased semen quality is associated with increased rates of mosaic blastocysts. METHODS:In a retrospective analysis, three hundred and forty PGT-A cycles are divided into study groups according to semen quality. Cycles were initially divided into two groups, discerning couples with absence of male factor of infertility (non-male factor: NMF; N?=?146 cycles) from couples with a male factor of infertility (MF; N?=?173 cycles). Couples with severe male factor (SMF) infertility (n?=?22) were assessed separately. Embryos were cultured to the blastocyst stage and chromosomally assessed by array comparative genomic hybridization (aCGH). The study did not involve specific interventions. RESULTS:The reproductive outcome of MF and NMF groups did not indicate statistically significant differences. However, while no differences were found between MF and NMF groups in terms of euploid or aneuploid blastocysts rates, a significantly higher rate of mosaic blastocysts was observed in the MF group (3.6% vs. 0.5%, respectively; P?=?0.03). A similar pattern of results was observed in the SMF group when compared with those of the other PGT-A cycles taken together (no SMF). In particular, a significantly higher rate of mosaic blastocysts was observed in the SMF group (7.7% and 1.8%, respectively; P?=?0.008). CONCLUSIONS:The study outcome strongly suggests that compromised semen quality is associated with increased rates of mosaic blastocysts analysed in PGT-A cycles. Sperm assessment appears therefore as an important factor in the determination of embryo development and for a more precise prognostic assessment of PGT-A cases.
| S-EPMC6823398 | biostudies-literature
Project description:IntroductionConventional intracytoplasmic sperm injection (ICSI) is a widely used treatment for couples with severe male infertility. However, there are controversies regarding the selection and the damage to gametes during the ICSI procedure. Although preimplantation genetic testing for aneuploidies (PGT-A) can give genetic information about embryos for transfer and improve fertility rate, and it is widely used in women with recurrent spontaneous abortion or advanced age, PGT-A is not only more expensive but also has unclear effectiveness with respect to the improvement of fertility rate among couples with severe male infertility. High-quality, well-powered randomised clinical trials (RCTs) comparing ICSI+PGT-A and ICSI are lacking.Methods and analysisThis is a protocol for a multicenter, open-label RCT in four reproductive medical centers qualified for PGT technique in China. We will study couples with severe male infertility scheduled for their fertility treatment. After the blastocyst culture, eligible participants are randomised to the ICSI+PGT-A group or the conventional ICSI group in a 1:1 ratio. Other assisted reproductive procedures are similar and parallel between the two groups. The primary outcome will be live birth rate and cumulative live-birth rate . Secondary outcomes will be embryo implantation rate, biochemical pregnancy rate, clinical pregnancy rate, spontaneous abortion rate, ongoing pregnancy rate, preterm birth rate, fetal chromosomal abnormality rate, birth defect rate and treatment complications. To demonstrate or refute a difference between the two groups, we plan to include 188 participants in each group; taking consideration of 20% of dropout, the total target sample size is 450.Ethics and disseminationEthical approval was obtained from International Peace Maternity and Child Health Hospital of Shanghai Jiao Tong University Medical Science Research Ethics Committee (GKLW2016-16). Informed consent will be obtained from each participant. The findings will be disseminated to the public through conference presentations and publication in peer-reviewed scientific journals.Trial registration numberClinicalTrials.gov, NCT02941965.
| S-EPMC9280869 | biostudies-literature