Journal of Assisted Reproduction and Genetics

Albertini, David F.

doi: 10.1007/s10815-023-02929-2pmid: 37691026

Gonzalez, Xavier Viñals; Almutlaq, Arwa; Gupta, Sioban Sen

doi: 10.1007/s10815-023-02906-9pmid: 37558907

The biggest cell in the human body, the oocyte, encloses almost the complete machinery to start life. Despite all the research performed to date, defining oocyte quality is still a major goal of reproductive science. It is the consensus that mature oocytes are transcriptionally silent although, during their growth, the cell goes through stages of active transcription and translation, which will endow the oocyte with the competence to undergo nuclear maturation, and the oocyte and embryo to initiate timely translation before the embryonic genome is fully activated (cytoplasmic maturation). A systematic search was conducted across three electronic databases and the literature was critically appraised using the KMET score system. The aim was to identify quantitative differences in transcriptome of human oocytes that may link to patient demographics that could affect oocyte competence. Data was analysed following the principles of thematic analysis. Differences in the transcriptome were identified with respect to age or pathological conditions and affected chromosome mis segregation, perturbations of the nuclear envelope, premature maturation, and alterations in metabolic pathways—amongst others—in human oocytes.

Kasaven, Lorraine S.; Marcus, Diana; Theodorou, Efstathios; Jones, Benjamin P.; Saso, Srdjan; Naja, Roy; Serhal, Paul; Ben-Nagi, Jara

doi: 10.1007/s10815-023-02866-0pmid: 37479946

PurposeTo establish if preimplantation genetic testing for aneuploidy (PGT-A) at the blastocyst stage improves the composite outcome of live birth rate and ongoing pregnancy rate per embryo transfer compared to conventional morphological assessment.MethodsA systematic literature search was conducted using PubMed, EMBASE and Cochrane database from 1st March 2000 until 1st March 2022. Studies comparing reproductive outcomes following in vitro fertilisation using comprehensive chromosome screening (CCS) at the blastocyst stage with traditional morphological methods were evaluated.ResultsOf the 1307 citations identified, six randomised control trials (RCTs) and ten cohort studies fulfilled the inclusion criteria. The pooled data identified a benefit between PGT-A and control groups in the composite outcome of live birth rate and ongoing pregnancy per embryo transfer in both the RCT (RR 1.09, 95% CI 1.02–1.16) and cohort studies (RR 1.50, 95% CI 1.28–1.76). Euploid embryos identified by CCS were more likely to be successfully implanted amongst the RCT (RR 1.20, 95% CI 1.10–1.31) and cohort (RR 1.69, 95% CI 1.29–2.21) studies. The rate of miscarriage per clinical pregnancy is also significantly lower when CCS is implemented (RCT: RR 0.73, 95% CI 0.56–0.96 and cohort: RR 0.48, 95% CI 0.32–0.72).ConclusionsCCS-based PGT-A at the blastocyst biopsy stage increases the composite outcome of live births and ongoing pregnancies per embryo transfer and reduces the rate of miscarriage compared to morphological assessment alone. In view of the limited number of studies included and the variation in methodology between studies, future reviews and analyses are required to confirm these findings.

Cascales, A; Morales, R; Castro, A; Ortiz, JA; Lledo, B; Ten, J; Bernabeu, A; Bernabeu, R

doi: 10.1007/s10815-023-02914-9pmid: 37592098

PurposeEvaluate which factors are involved in the increased rate of mosaicism in embryos.MethodsA systematic review and meta-analysis was performed. After an exhaustive search of the literature, a total of seven papers were included in the analysis. In addition, data collected from IVF cycles performed in our fertility clinic were also analysed. Day of biopsy, embryo quality, maternal and paternal age and seminal quality were the chosen factors to be studied.ResultsThe results of the meta-analysis show that neither embryo quality nor seminal quality were related to mosaic embryo rate (OR: 1.09; 95% CI: 0.94–1.28 and OR: 1.10; 95% CI: 0.87–1.37, respectively). A positive association was observed for the variable “biopsy day” with embryos biopsied at day 6 or 7 having the highest rate of mosaicism (OR: 1.06; 95% CI: 1.01–1.11). In opposite to what happens with aneuploidy rate, which increases with maternal age, embryo mosaicism is higher in younger women (<34 years) rather than in older ones (≥34 years) (OR: 0.95; 95% CI: 0.92–0.98). However, for the “paternal age” factor, no association with mosaicism was found (OR: 1.04; 95% CI: 0.90–1.21).ConclusionsWith the present study, we can conclude that the factors related to the presence of mosaicism in embryos are the embryo biopsy day and maternal age. The rest of the studied factors showed no significant relationship with mosaicism. These results are of great importance as knowing the possible causes leading to mosaicism helps to improve the clinical results of reproductive treatments.

Casper, Robert F.

doi: 10.1007/s10815-023-02913-wpmid: 37589859

Preimplantation genetic testing for aneuploidy (PGT-A) is a common add-on to IVF cycles. As it is presently performed, PGT-A relies on whole genome amplification of small amounts of DNA from cells removed from the trophectoderm (TE) of a blastocyst for determination of gain or loss of chromosomal material by next-generation sequencing. Whole genome amplification may introduce artifacts such as allele dropout and loss of heterozygosity in up to 25% of cases. In addition, the high prevalence of mosaicism in human embryos is a complicating factor in interpreting the results of PGT-A screening. In the presence of mosaicism, biopsy of TE cells cannot provide accurate results regarding the chromosomal make-up of the inner cell mass. The available clinical data suggest that PGT-A is probably harmful when IVF outcomes are analyzed by intention to treat or by live birth rate per cycle started rather than per embryo transfer, especially in women with three or fewer blastocysts. In addition, hypothesized advantages of reduced spontaneous abortion rate and reduced time to conception may be modest at best.

Zhang, Shuoping; Xie, Pingyuan; Lan, Fang; Yao, Yaxin; Ma, Shujuan; Hu, Liang; Tan, Yueqiu; Jiang, Bo; Wan, Anqi; Zhao, Dunmei; Gong, Fei; Lu, Sijia; Lin, Ge

doi: 10.1007/s10815-023-02916-7

He, Yunan; Tang, Ruonan; Yu, Haikun; Mu, Hui; Jin, Hongbin; Dong, Jie; Wang, Wenwen; Wang, Lu; Chen, Shuqiang; Wang, Xiaohong

doi: 10.1007/s10815-023-02923-8pmid: 37661207

Nanassy, Laszlo; Schoepper, Beate; Schultze-Mosgau, Askan; Depenbusch, Marion; Eggersmann, Tanja K.; Hiller, Roman A.F.; Griesinger, Georg

doi: 10.1007/s10815-023-02909-6pmid: 37582908

PurposeTo study the outcome of sequential cryopreservation-thawing of zygotes followed by the cryopreservation-thawing of blastocysts in the course of an IVF treatment on live birth rate and neonatal parameters.MethodsSingle center, retrospective chart review for the time period of 2015–2020. Clinical and perinatal outcomes were compared between frozen embryo transfer cycles utilizing twice-cryopreserved (n = 182) vs. once-cryopreserved (n = 282) embryos. Univariate and multivariable analyses were used to adjust for relevant confounders.ResultsAfter adjustment for maternal age, gravidity, parity, body mass index (BMI), paternal age, fertilization method used, the number of oocytes retrieved in the fresh cycle, fertilization rate, and transfer medium, the transfer of twice-cryopreserved embryos resulted in a reduced probability of live birth (OR, 0.52; 95% CI 0.27–0.97; p=0.041) compared to once-cryopreserved embryos. No differences in the sex ratio, the mean gestational age, the mean length at birth, or the mean birth weight were found between the two groups.ConclusionThe circumstantial use of sequential double vitrification-warming in course of treatment is associated with a reduced (but still reasonable) live birth rate compared to once-cryopreserved embryos. As the neonatal outcomes of twice-cryopreserved embryos are similar to once-cryopreserved embryos, this treatment option appears still valid as a rescue scenario in selected cases.

Magee, Bethany; Smith, Kevin Richard

doi: 10.1007/s10815-023-02898-6pmid: 37526808

The increasing demand for fertility treatments has led to the rise of private clinics offering complementary and alternative medicine (CAM) treatments. The most frequently offered CAM infertility treatment is acupuncture. However, there is no good evidence to support the effectiveness of acupuncture in treating infertility. This study evaluates the scope of information provided by CAM fertility clinics in the UK. A content analysis was conducted on 200 websites of CAM fertility clinics in the UK that offer acupuncture as a treatment for infertility. Of the 48 clinics that met the eligibility criteria, the majority of the websites did not provide sufficient information on the efficacy, risks and success rates of acupuncture for infertility. This has the potential to infringe on patient autonomy, provide false hope and reduce the chances of pregnancy ever being achieved as fertility declines during the time course of ineffective acupuncture treatment.

Dunlop, CE; Jack, SA; Telfer, EE; Zahra, S.; Anderson, RA

doi: 10.1007/s10815-023-02905-wpmid: 37566317

Turner syndrome (TS) leads to a characteristic phenotype, including premature ovarian insufficiency and infertility. Ovarian tissue cryopreservation (OTC) is becoming an established fertility preservation strategy for both pre- and post-pubertal females and may offer the chance of having a biological family to selected patients with TS. To date, women with TS have had ovarian tissue cryopreserved but there are few reports of autologous re-implantation and none of pregnancy. We herein report, to our knowledge, the first clinical pregnancy in a patient with TS, conceived naturally following re-implantation of cryopreserved ovarian tissue which had been removed soon after spontaneous puberty. This provides proof of concept for OTC as a means of fertility preservation in TS.