Defects in meiosis I contribute to the genesis of androgenetic hydatidiform moles.

To identify novel genes responsible for recurrent hydatidiform moles (HMs), we performed exome sequencing on 75 unrelated patients who were negative for mutations in the known genes. We identified biallelic deleterious variants in 6 genes, FOXL2, MAJIN, KASH5, SYCP2, MEIOB, and HFM1, in patients with androgenetic HMs, including a familial case of 3 affected members. Five of these genes are essential for meiosis I, and their deficiencies lead to premature ovarian insufficiency.

Automated Single-Sperm Selection Software (SiD) during ICSI: A Prospective Sibling Oocyte Evaluation.

The computer-assisted program SiD was developed to assess and select sperm in real time based on motility characteristics. To date, there are limited studies examining the correlation between AI-assisted sperm selection and ICSI outcomes. To address this limit, a total of 646 sibling MII oocytes were randomly divided into two groups as follows: the ICSI group (n = 320): ICSI performed with sperm selected by the embryologist and the ICSI-SiD group (n = 326): ICSI performed with sperm selected using SiD software.

Genome and Epigenome Disorders and Male Infertility: Feedback from 15 Years of Clinical and Research Experience.

Infertility affects around 20% of couples of reproductive age; however, in some societies, as many as one-third of couples are unable to conceive. Different factors contribute to the decline of male fertility, such us environmental and professional exposure to endocrine disruptors, oxidative stress, and life habits with the risk of de novo epigenetics dysregulation. Since the fantastic development of new "omes and omics" technologies, the contribution of inherited or de novo genomes and epigenome disorders to male infertility have been further elucidated.

An Overview of E-Cigarette Impact on Reproductive Health.

Electronic cigarettes (e-cigarettes) are often considered a "safe substitute" for conventional cigarette cessation. The composition of the fluid is not always clearly defined and shows a large variation within brands and manufacturers. More than 80 compounds were detected in liquids and aerosols.

Endometrium Immunomodulation to Prevent Recurrent Implantation Failure in Assisted Reproductive Technology.

After more than four decades of assisted reproductive technology (ART) practice worldwide, today more than 60% of women undergoing in vitro fertilization (IVF) treatments fail to become pregnant after the first embryo transfer and nearly 20% of patients are suffering from unexplained recurrent implantation failures (RIFs) and repeated pregnancy loss (RPL). The literature reported different causes of RIF-RPL, mainly multifactorial, endometrial and idiopathic. RIF remains a black box because of the complicated categorization and causes of this physio-pathological dysregulation of implantation and pregnancy process after ovarian stimulation.

Immunomodulation for unexplained recurrent implantation failure: where are we now?

In Brief: Immune dysfunction may contribute to or cause recurrent implantation failure. This article summarizes normal and pathologic immune responses at implantation and critically appraises currently used immunomodulatory therapies.

Abstract: Recurrent implantation failure (RIF) may be defined as the absence of pregnancy despite the transfer of ≥3 good-quality blastocysts and is unexplained in up to 50% of cases.

Reassessing the interpretation of oxidation-reduction potential in male infertility.

Unlabelled: Male Infertility Oxidative System (MiOXSYS) has been proposed as a rapid and promising technology for the evaluation of sperm oxidative stress. In this case-control study, 134 men with normal sperm parameters (NSP) and 574 men with abnormal sperm parameters (ASP), according to the World Health Organization sperm assessment references values established in 2010, were enrolled. Conventional sperm parameters were evaluated in all patients.

Intrauterine Administration of Activated Peripheral Blood Mononuclear Cells in Intrauterine Insemination: A Prospective Double-Blind Randomized Clinical Trial.

Objective: To evaluate the effect of intrauterine administration of activated peripheral blood mononuclear cells (PBMC) on intrauterine insemination (IUI) success rates.

Methods: This prospective double-blind randomized parallel clinical trial included 213 patients undergoing IUI at the Fertilys clinic. PBMC were isolated on the day of ovulation (day 0; D0) and stimulated with phytohemagglutinin (PHA) and human chorionic gonadotropin (hCG) for 48 hours (day 2; D2).

Monochorionic diamniotic in vitro fertilization twins have a decreased incidence of twin-to-twin transfusion syndrome.

Objective: To compare the incidence of twin-to-twin transfusion syndrome (TTTS) in spontaneous versus IVF-conceived twin pregnancies.

Design: Retrospective multicenter study.

Setting: University-affiliated tertiary medical centers.

The association of crown-rump length discrepancy with birthweight discordance in spontaneous versus IVF monochorionic twins: a multicenter study.

Objective: The objective of this study was to compare the associations of crown-rump length (CRL) discrepancy with birthweight discordance in spontaneous versus in vitro fertilization (IVF) monochorionic (MC) twin pregnancies.

Method: This is a multicenter retrospective study on women with twin pregnancies assessed for nuchal translucency between January 1997 and July 2013. The study group was subdivided into MC twins conceived spontaneously and after IVF.

Mitochondria: participation to infertility as source of energy and cause of senescence.

Mitochondria is a powerhouse organelle involved in ATP synthesis, calcium signaling, reactive oxygen species (ROS) by oxidative stress production, cell cycle arrest via apoptosis and sex steroid hormones biosynthesis. Improvement of sperm parameters such as motility, capacitation, acrosome reaction, and oocyte interaction, involve regulation of ROS levels by the mitochondria. In human, the relation between the quantitative level of mitochondrial DNA (mtDNA), oocyte cytoplasm maturation and fertilization potential, is not clear.

Maternal plasma levels of follistatin-related gene protein in the first trimester of pregnancies with Down syndrome.

Objective: To determine maternal plasma levels of follistatin-related gene protein (FLRG) in the first trimester of pregnancy and assess its potential role as a marker for prenatal screening of Down syndrome.

Methods: Maternal plasma levels of FLRG were determined in 100 pregnant women with normal fetuses in their first trimester of pregnancy (i.e.

Nuchal translucency thresholds in prenatal screening for Down syndrome and trisomy 18.

Objective: To determine if nuchal translucency (NT) can be used as a first trimester triage marker in prenatal screening for Down syndrome and trisomy 18.

Methods: Data from first trimester prenatal screening in 77 443 women were stratified by maternal and gestational ages. They were then analyzed to identify NT thresholds above or below which only positive (high-risk) or negative (low-risk) results were reported by a first trimester prenatal screening test combining PAPP-A, free beta-hCG and NT.

Effect of maternal smoking on prenatal screening for Down syndrome and trisomy 18 in the first trimester of pregnancy.

Objectives: To assess the impact of maternal smoking on first-trimester prenatal screening results for Down syndrome and trisomy 18.

Methods: Data on maternal smoking status, maternal age, gestational dating, levels of free beta-human chorionic gonadotrophin (beta-hCG) and pregnancy-associated plasma protein A (PAPP-A) in maternal blood and fetal nuchal translucency (NT) thickness were analyzed from a cohort of 53 114 women. Statistical analyses were carried out for crude and adjusted comparisons between smoking and nonsmoking groups.

Essential role of platelet-activating factor in male reproduction: a review.

The use of pharmacological adjuvants to enhance sperm function is a real possibility and a very attractive proposition. However, the role of such adjuvants must be well defined to maximize therapeutic outcome for specific patient populations. Platelet-activating factor (PAF) is a potent signalling phospholipid that has been implicated in a number of biological activities.