A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.

Background: Charcot-Marie-Tooth (CMT) disease is the most frequent hereditary motor sensory neurological disease. GJB1 gene is the second most frequent cause of CMT, accounting for approximately 10% of CMT cases worldwide. We identified a large Han family with X-linked CMT disease.

Oocytes With Smooth Endoplasmic Reticulum Aggregates May Not Impact Blastocyst Euploidy Rate.

Objective: To investigate whether the euploidy rate of blastocysts derived from smooth endoplasmic reticulum aggregates (SERa) positive cycles and oocytes are impacted.

Design: Retrospective cohort study.

Methods: A total of 601 preimplantation genetic testing (PGT) cycles with at least one oocyte retrieved in our center between April 2017 and May 2021 were initially included in the study.

Does current ovarian endometrioma increase the time for DOR patients to reach live birth in IVF?

Background: The contents of ovarian endometrioma (OMA) such as inflammatory mediators, reactive oxygen species, and iron may disrupt normal folliculogenesis and result in subsequent oocyte apoptosis. Therefore, women with OMA have a potential risk of diminished ovarian reserve (DOR). The purpose of this study is to compare the in vitro fertilization (IVF) outcomes and efficiency between DOR patients with and without current OMA.

Case Report: Identification of Germline Chimerism in Monochorionic Dizygotic Twins.

Monochorionic twins are generally considered to be monozygotic, as monochorionic dizygotic (MCDZ) twins are extremely rare in natural pregnancies. Several studies have reported this rare occurrence, and most of these pregnancies have been conceived by assisted reproductive technology (ART). These reports mostly focused on MCDZ twin pregnancies and the childhood development of the twins; a follow-up into adulthood and the effect on their reproduction has not been reported.

Endometrial Preparation for Frozen-Thawed Embryo Transfer With or Without Pretreatment With GnRH Agonist: A Randomized Controlled Trial at Two Centers.

Objective: This prospective randomized controlled trial compared the reproductive outcomes of frozen embryo transfer (FET) with hormone replacement treatment (HRT) with or without gonadotropin-releasing hormone agonist (GnRHa) pretreatment.

Methods: A total of 133 patients scheduled for HRT-FET mainly because of tubal and/or male factors who received two high-quality cleavage-stage embryos were enrolled at two participating centers. The GnRHa group ( = 65) received GnRHa pretreatment, while the control group ( = 68) did not.

Oocytes With Smooth Endoplasmic Reticulum Aggregates Are Not Associated With Impaired Reproductive Outcomes: A Matched Retrospective Cohort Study.

Objective: To investigate whether the reproductive outcomes of oocytes with smooth endoplasmic reticulum aggregates (SERa) are impaired.

Methods: A total of 2893 intracytoplasmic sperm injection (ICSI) cycles were performed between January 2010 and December 2019 in our center. In 43 transfer cycles, transferred embryos were totally derived from SERa+ oocytes.

Embryo retention significantly decreases clinical pregnancy rate and live birth rate: a matched retrospective cohort study.

Objective: To investigate the embryo retention (ER) rate in embryo transfer (ET) cycles and its effects on reproductive outcomes.

Design: Matched retrospective cohort study.

Setting: A tertiary hospital-based reproductive medicine center.

Re-analysis of whole blastocysts after trophectoderm biopsy indicated chromosome aneuploidy.

Background: To compare the concordance between trophectoderm (TE) analysis and whole blastocyst analysis of embryos from chromosomal structural rearrangement (SR) carriers.

Method: Sixty-three abnormal blastocysts identified by preimplantation genetic testing for chromosomal structural rearrangement (PGT-SR) were included. The whole blastocysts were processed through multiple displacement amplification cycle and sequenced for 24-chromosome aneuploidy screening by next-generation sequencing (NGS).

Compound heterozygous ZP1 mutations cause empty follicle syndrome in infertile sisters.

Empty follicle syndrome (EFS) is a condition in which no oocyte is retrieved from mature follicles after proper ovarian stimulation in an in vitro fertilization procedure. Genetic evidence accumulates for the etiology of recurrent EFS without pharmacological or iatrogenic problems. In this study, we present two infertile sisters in a family with EFS after three cycles of standard ovarian stimulation with human chorionic gonadotrophin and/or gonadotropin-releasing hormone agonist therapy.

Meta-analysis of the association between chromosomal polymorphisms and outcomes of embryo transfer following in vitro fertilization and/or intracytoplasmic sperm injection.

Background: The outcomes of in vitro fertilization and/or intracytoplasmic sperm injection (IVF/ICSI) are contradictory among individuals with chromosomal polymorphisms.

Objectives: To assess whether chromosomal polymorphisms affect the outcomes of assisted reproductive technologies.

Search Strategy: Four online databases were searched from inception to September 18, 2017, using terms including "chromosomal polymorphisms" and "In vitro fertilization.

[Effects of luteinizing hormone supplementation on outcomes of in vitro fertilization and embryo transfer in patients undergoing GnRH-agonist long protocol].

Objective: To compare the clinical outcomes of in vitro fertilization and embryo transfer (IVF-ET) among patients in different conditions receiving luteinizing hormone supplementation in GnRH-agonist long protocol.

Methods: Between June, 2010 and December, 2015, 671 IVF-ET cycles with GnRH-agonist long protocol were performed at our center. These cycles were divided into group A with FSH only and group B with FSH and recombinant luteinizing hormone (r-LH) supplementation, and each group was divided into 4 subgroups according to age (<35 or ≥35) and the LH level on the initial day (<1.

[Pregnancy and obstetric outcomes of fresh embryo transfer versus frozen-thawed embryo transfer in women below 35 years of age].

Objective: To compare the obstetric and perinatal outcomes between fresh embryo transfer (ET) and frozen-thawed ET (the "freeze-all" strategy) and evaluate the benefits of the "freeze-all" embryo strategy for young patients.

Methods: We reviewed a total of 2091 ET cycles performed between January, 2011 and December, 2015 in women aged 20-35 years, including 1295 fresh ET cycles and 796 frozen-thawed ET cycles. The demographic characteristics, ovarian stimulation syndrome, clinical pregnancy rates, live birth rate and the obstetric outcomes (gestational age, preterm delivery rate and mean birth weight) were compared between the two groups.

[Pregnancy and obstetric outcomes of elective single versus double cleavage-stage embryo transfer].

Objective: To compare the pregnancy and obstetric outcomes in elective single versus two cleavage-stage embryo transfer.

Methods: Fresh cleavage-stage embryo transfer cycles between January, 2014 and October, 2015 were reviewed, including 39 single embryo transfer (eSET) cycles and 200 double embryo transfer (DET) cycles. The clinical pregnancy rates, implantation rates, multiple pregnancy rates, live birth rate, and obstetric outcomes (gestational age, preterm delivery rate and mean birth weight) were compared between the two groups.

[Predictive value of anti-Mullerian hormone levels in serum and follicle fluid for IVF-ET outcomes in patients with polycystic ovarian syndrome].

Objective: To investigate the association of anti-Mullerian hormone (AMH) levels in the follicular fluid and serum with the outcomes of in vitro fertilization-embryo transfer (IVF-ET) cycles in patients with polycystic ovarian syndrome (PCOS).

Methods: Serum and follicular fluid samples were obtained from 30 patients with PCOS and 34 healthy women (control) undergoing IVF/ICSI-ET in our center between October, 2007 and January, 2008. All the subjects received treatment with long luteal-phase down-regulation and controlled ovarian hyperstimulation protocol in IVF cycles, and their clinical characteristics were analyzed.

[Gonadotrophin dose and ovarian response: relations to the clinical outcome of in vitro fertilization and embryo transfer].

Objective: To investigate the association of gonadotrophin (Gn) dose and ovarian response with the clinical outcome of in vitro fertilization and embryo transfer (IVF-ET).

Methods: Patients undergoing IVF-ET with Gn stimulation for no more than 15 days were enrolled in this study. The patients were divided into 3 groups, namely group A (390 cycles) with total Gn dose :3375 IU and retrieved oocytes:4, group B (64 cycles) with total Gn dose :3375 IU and retrieved oocytes < or =3, and group C (97 cycles) with total Gn dose< or =3300 IU and retrieved oocytes< or =3.

[Clinical application of gonadotropin-releasing hormone antagonist in Chinese women undergoing controlled ovarian hyperstimulation for in vitro fertilization and embryo transfer].

Objective: To analyze the clinical characteristics and cycle outcome of Chinese women with gonadotropin-releasing hormone (GnRH) antagonist treatment during controlled ovarian hyperstimulation (COH) for in vitro fertilization and embryo transfer (IVF-ET).

Methods: A retrospective review was conducted in patients who completed 54 consecutive cycles of IVF-ET with GnRH antagonist treatment for luteinizing hormone (LH) surge prevention. Descriptive statistics were recorded for the patients' age, GnRH treatment duration (days) and dose, timing and duration of GnRH antagonist treatment, serum E2 and LH level on the day of antagonist use and hCG injection, number of oocytes retrieved, and clinical pregnancy rate.