The clinical application of affected-embryo-based SNP haplotype analysis for patients with de novo pathogenic mutations in PGT-M cycles.

Purpose: In preimplantation genetic testing for monogenic/single gene disorders (PGT-M) cycles, direct detection of the pathogenic mutation combined with indirect haplotype analysis are recommended to achieve accurate diagnosis. However, it poses a challenge to conduct haplotype analysis for patients carried de novo pathogenetic mutations or without no identified haplotype in families. Herein, the strategy of affected-embryo-based haplotype analysis was implemented in clinical practice to provide a convenient, economical and effective way for such patients.

The influence of day 3 embryo cell number on the clinical pregnancy and live birth rates of day 5 single blastocyst transfer from frozen embryo transfer cycles.

Background: To evaluate the influence of day 3 embryo cell number on the clinical pregnancy and live birth rates of day 5 single blastocyst transfer in frozen embryo transfer (FET) cycles.

Methods: Our retrospective study included 3761 day 5 single blastocyst FET cycles between January 2015 and December 2019. These FET cycles were divided into three groups according to the day 3 embryo cell number: 939 cycles in the < 8-cell group, 1224 cycles in the 8-cell group and 1598 cycles in the > 8-cell group.

Elevated Placental microRNA-155 Is a Biomarker of a Preeclamptic Subtype.

Background: Preeclampsia is a complicated syndrome with marked heterogeneity. The biomarker-based classification for this syndrome is more constructive to the targeted prevention and treatment of preeclampsia. It has been reported that preeclamptic patients had elevated microRNA-155 (miR-155) in placentas or circulation.

The preimplantation genetic testing clinical outcomes of biopsy on vitrification-warming embryos: A retrospective study.

Aim: The objective of this study was to assess whether PGT conducted with previously untested vitrified embryos affect the clinical outcomes.

Methods: A total of 49 patients who underwent biopsy on vitrification-warming embryos for PGT were enrolled from January 2016 to January 2019. The cleavage-stage embryos were thawed and cultured into the blastocyst stage for biopsy.

Gonadal white adipose tissue is important for gametogenesis in mice through maintenance of local metabolic and immune niches.

Gonadal white adipose tissue (gWAT) can regulate gametogenesis via modulation of neuroendocrine signaling. However, the effect of gWAT on the local microenvironment of the gonad was largely unknown. Herein, we ruled out that gWAT had a neuroendocrine effect on gonad function through a unilateral lipectomy strategy, in which cutting off epididymal white adipose tissue could reduce seminiferous tubule thickness and decrease sperm counts only in the adjacent testis and epididymis of the affected gonad.

The mitochondrial protease LONP1 maintains oocyte development and survival by suppressing nuclear translocation of AIFM1 in mammals.

Background: Oogenesis is a fundamental process of human reproduction, and mitochondria play crucial roles in oocyte competence. Mitochondrial ATP-dependent Lon protease 1 (LONP1) functions as a critical protein in maintaining mitochondrial and cellular homeostasis in somatic cells. However, the essential role of LONP1 in maintaining mammalian oogenesis is far from elucidated.

The clinical application of single-sperm-based single-nucleotide polymorphism haplotyping for PGT of patients with genetic diseases.

Research Question: Is there a simple and effective method for male patients with genetic disorders in families with no identified haplotype and with Robertsonian translocations to avoid the transfer of embryos carrying translocated chromosomes?

Design: Single spermatozoa were separated to identify by next-generation sequencing (NGS) those that were genetically abnormal, to establish a sperm-based single-nucleotide polymorphism (SNP) haplotype. Blastocysts that developed to day 5 or 6 were then biopsied for whole genome amplification and screening for chromosomal aneuploidy. Normal embryos were selected by comparison with a single-sperm-based SNP haplotype and were transferred.

A mathematical model for predicting the number of transferable blastocysts in next-generation sequencing-based preimplantation genetic testing.

Purpose: To investigate the clinical factors that could be used predict the number of transferable blastocysts in preimplantation genetic testing (PGT) cycles based on next-generation sequencing (NGS) and formed form a mathematical model to predict the chance likelihood of obtaining one transferable blastocyst, which is helpful for genetic counseling.

Methods: This retrospective study enrolled couples undergoing PGT cycles for chromosomal structural rearrangement (PGT-SR, n = 363, 202 with reciprocal translocation carriers, 131 with Robertsonian translocation carriers, 30 with inversion carriers), monogenic diseases (PGT-M, n = 47), and for Aneuploidies (PGT-A, n = 132) from January 2015 to October 2018. Stepwise multiple linear regression analysis was used to identify the factors relevant for obtaining at least one transferable blastocyst.

The effects of the day of trophectoderm biopsy and blastocyst grade on the clinical and neonatal outcomes of preimplantation genetic testing-frozen embryo transfer cycles.

This study analyzed the effects of the day of trophectoderm (TE) biopsy and blastocyst grade on clinical and neonatal outcomes. The results showed that the implantation and live birth rates of day 5 (D5) TE biopsy were significantly higher compared with those of D6 TE biopsy. The miscarriage rate of the former was lower than that of the latter, but there was no statistically significant difference.

Trophectoderm Mitochondrial DNA Content Associated with Embryo Quality and Day-5 Euploid Blastocyst Transfer Outcomes.

Mitochondria play a critical role in cell function and embryo development. Recently, increasing studies have investigated whether mitochondrial DNA (mtDNA) can be used as a predictive biomarker of embryo implantation. However, the results of its effect on implantation are still controversial.

MiR-181a enhances drug sensitivity of mixed lineage leukemia-rearranged acute myeloid leukemia by increasing poly(ADP-ribose) polymerase1 acetylation.

Chromosomal translocations and rearrangements involving () gene is associated with poor prognosis in AML. Extensive epigenetic changes were found in this group of patients. In clinical study, we found miR-181a expression level was significantly lower in -rearranged AML.

Down-regulation of B2R contributes to preeclampsia by inhibiting human trophoblast cell invasion and angiogenesis.

Objective: Bradykinin B2 receptor (B2R) was decreased in early chorionic villi of pregnancies who progressed to severe preeclampsia (PE), suggesting downregulation of B2R may be involved in the pathogenesis of PE. The aim of this study was to investigate the possible roles of B2R in the pathophysiology of PE and its function in trophoblastic cells.

Study Design: The expression of B2R in placentas from patients with early-onset severe PE (sPE) and LPS induced PE-like rats were detected.

Up-regulation of PTEN via LPS/AP-1/NF-κB pathway inhibits trophoblast invasion contributing to preeclampsia.

Preeclampsia, a pregnancy-specific disorder, is characterized by abnormal vascular remodeling of the spiral arteries due to deficient trophoblast invasion. Lipopolysaccharide (LPS) administration to pregnant rats on day 5 of pregnancy could induce excessive immune response at the maternal-fetal interface contributing to poor early placentation that culminate in the preeclampsia-like syndrome. Furthermore, the expression of phosphatase and tensin homolog deleted on chromosome 10 (PTEN), a critical tumor suppressor, is markedly increased in the placentas of patients with preeclampsia.

CD10 expression identifies a subset of human perivascular progenitor cells with high proliferation and calcification potentials.

The tunica adventitia ensheathes arteries and veins and contains presumptive mesenchymal stem cells (MSCs) involved in vascular remodeling. We show here that a subset of human adventitial cells express the CD10/CALLA cell surface metalloprotease. Both CD10 and CD10 adventitial cells displayed phenotypic features of MSCs when expanded in culture.

Evaluation of preimplantation genetic testing based on next-generation sequencing for balanced reciprocal translocation carriers.

Research Question: Can next-generation sequencing (NGS) based on copy number variation sequencing (CNV-Seq) identify normal/balanced embryos in balanced reciprocal translocation carriers and what are their reproductive outcomes?

Design: One hundred couples with balanced reciprocal translocation who underwent a total of 134 preimplantation genetic testing (PGT) cycles between January 2015 and October 2017 were evaluated. Trophectoderm cells of blastocysts were biopsied for CNV-Seq-based NGS. All the balanced/normal blastocysts were vitrified and cryopreserved.

Analysis of meiotic segregation modes in biopsied blastocysts from preimplantation genetic testing cycles of reciprocal translocations.

Purpose: To analyse the meiotic segregation modes of chromosomal structural rearrangements (PGT-SR) of reciprocal translocation in biopsied blastocysts from preimplantation genetic testing and to investigate whether any features of reciprocal translocation, such as carrier gender or the presence of acrocentric chromosomes or terminal breakpoints, affect meiotic segregation modes.

Methods: Comprehensive chromosomal screening was performed by next generation sequencing (NGS) on 378 biopsied blastocysts from 102 PGD cycles of 89 reciprocal translocation carriers. The segregation modes of a quadrivalent in 378 blastocysts were analysed according to the carrier's gender, chromosome type and the location of chromosome breakpoints.

Mitochondrial transfer from aged adipose-derived stem cells does not improve the quality of aged oocytes in C57BL/6 mice.

Female fertility declines dramatically over the age of 35 due to age-related decreases in oocyte quality and quantity. Although mitochondrial transfer promises to be a technology that can improve the quality of such age-impaired oocytes, the ideal mitochondrial donor remains elusive. In the present study, we aimed to identify whether aged adipose-derived stem cells constitute an excellent mitochondrial donor that would improve the quality of aged mouse oocytes.

Pravastatin alleviates lipopolysaccharide-induced placental TLR4 over-activation and promotes uterine arteriole remodeling without impairing rat fetal development.

Preeclampsia is associated with over-activation of the innate immune system in the placenta, in which toll-like receptor 4 (TLR4) plays an essential part. With their potent anti-inflammatory effects, statins have been suggested as potential prevention or treatment of preeclampsia, although evidence remains inadequate. Herewith, we investigated whether pravastatin could ameliorate preeclampsia-like phenotypes in a previously established lipopolysaccharide (LPS)-induced rat preeclampsia model, through targeting the TLR4/NF-κB pathway.

The clinical application of single-sperm-based SNP haplotyping for PGD of osteogenesis imperfecta.

Osteogenesis imperfecta (OI) is a genetically heterogeneous disorder, presenting either autosomal dominant, autosomal recessive or X-linked inheritance patterns. The majority of OI cases are autosomal dominant and are caused by heterozygous mutations in either the COL1A1 or COL1A2 gene. In these dominant disorders, allele dropout (ADO) can lead to misdiagnosis in preimplantation genetic diagnosis (PGD).

Association between Th1/Th2 immune imbalance and obesity in women with or without polycystic ovary syndrome.

Objectives: This study aimed to investigate the Th1/Th2 cells in peripheral blood of PCOS patients, and assess the potential correlation between Th1/Th2 imbalance and obesity.

Methods: Thirty-nine PCOS patients and 23 age-matched controls were enrolled. The PBMCs were obtained before pharmacological intervention in women with or without PCOS.

Placenta‑associated serum exosomal miR‑155 derived from patients with preeclampsia inhibits eNOS expression in human umbilical vein endothelial cells.

Preeclampsia (PE) is considered to be initiated by abnormal placentation in early pregnancy and results in systemic endothelial cell dysfunction in the second or third trimester. MicroRNAs (miRs) expressed in the human placenta can be secreted into maternal circulation via exosomes, which are secreted extracellular vesicles that serve important roles in intercellular communication. The present study hypothesized that upregulation of placenta‑associated serum exosomal miR‑155 from patients with PE may suppress endothelial nitric oxide synthase (eNOS) expression in endothelial cells.

[ICSI with testicular or epididymal sperm for patients with obstructive azoospermia: A systematic review].

Objective: To assess the effects of testicular sperm and epididymal sperm on the outcomes of ICSI for patients with obstructive azoospermia.

Methods: We searched PubMed, MEDLINE, EMBASE, Cochrane, CNKI, VIP, CBM, and Wanfang Database up to December 2015 for published literature relevant to ICSI with testicular or epididymal sperm for obstructive azoospermia patients. According to the inclusion and exclusion criteria, two reviewers independently conducted literature screening, data extraction and quality assessment of the included trials, followed by meta-analysis with the RevMan 5.

Different Angiogenic Potentials of Mesenchymal Stem Cells Derived from Umbilical Artery, Umbilical Vein, and Wharton's Jelly.

Human mesenchymal stem cells derived from the umbilical cord (UC) are a favorable source for allogeneic cell therapy. Here, we successfully isolated the stem cells derived from three different compartments of the human UC, including perivascular stem cells derived from umbilical arteries (UCA-PSCs), perivascular stem cells derived from umbilical vein (UCV-PSCs), and mesenchymal stem cells derived from Wharton's jelly (WJ-MSCs). These cells had the similar phenotype and differentiation potential toward adipocytes, osteoblasts, and neuron-like cells.

The clinical application of NGS-based SNP haplotyping for PGD of Hb H disease.

This study investigated the usefulness of next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping for preimplantation genetic diagnosis (PGD) of hemoglobin H (Hb H) disease. Multiple displacement amplification (MDA) was used for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Gap-PCR and NGS-based SNP haplotyping was used to distinguish the two genotypes of -α/αα and -/αα for PGD of Hb H disease.