A genome-wide association study of anti-Müllerian hormone (AMH) levels in Samoan women.

Study Question: Can a genome-wide association study (GWAS) and transcriptome-wide association study (TWAS) help identify genetic variation or genes associated with circulating anti-Müllerian hormone (AMH) levels in Samoan women?

Summary Answer: We identified eleven genome-wide suggestive loci (strongest association signal in 19-946163-G-C [ = 2.32 × 10⁻⁷]) and seven transcriptome-wide significant genes ( [all with a < 2.50 × 10⁻⁶]) associated with circulating AMH levels in Samoan women.

Methodological approach for an integrated female-specific study of anxiety and smoking comorbidity.

Two primary ovarian hormones that fluctuate across the female menstrual cycle-estradiol and progesterone-have been independently linked in separate literatures to nicotine reinforcement and anxiety psychopathology. We identify existing methodological limitations in these literatures, describe an example protocol that was developed to address such limitations, highlight case examples, and offer insights on the resulting advantages and challenges. This protocol was an observational, prospective, within-subjects study of female cigarette smokers who were followed over the course of a complete menstrual cycle.

Validation of a monoclonal unconjugated estriol antibody for use in prenatal maternal serum screening.

Objectives: Unconjugated estriol (uE3) is used as a marker for fetal aneuploidy in maternal serum screening tests. The goal of this study was to examine the validity of a new immunoassay for uE3 that uses a monoclonal antibody (m-uE3) rather than the more commonly used polyclonal antibody (p-uE3).

Setting: Assays were performed in the Special Chemistry laboratory at Women and Infants Hospital of Rhode Island.

Surveillance of SARS-CoV-2 Antibodies in Early 2020 among Rhode Island Pregnancies.

Objective: Limited data are available on the performance of SARS-CoV-2 antibody assays and data collected during pregnancy vary widely. The objective of this study was to estimate the seroprevalence of antibodies against SARS-CoV-2 in pregnant individuals in Rhode Island and to evaluate whether the prevalence differed by month of collection, age, county of residence, or economic status as estimated by zip code.

Methods: Pre-pandemic (2019) and early pandemic (2020) serum samples, collected for prenatal screening between 15 and 22 weeks of gestation, were analyzed utilizing two SARS-CoV-2 immunoglobulin G (IgG) automated assays that targeted the viral nucleocapsid (anti-N) or spike (anti-S) receptor binding domain proteins.

HE4 and CA125 serum biomarker monitoring in women with epithelial ovarian cancer.

Background: CA125 is the gold standard serum biomarker for monitoring patients with epithelial ovarian cancer (EOC). Human epididymal protein 4 (HE4) is a novel serum biomarker for EOC patients.

Objective: The objective of this trial was to examine the utility of measuring serum HE4 levels for monitoring EOC patients and to compare HE4 performance parameters to serum CA125.

Assessment of a Simplified Cell-Free DNA Method for Prenatal Down Syndrome Screening.

Background: Prenatal screening for common trisomies via cell-free (cfDNA) is usually implemented by technologies utilizing massively parallel sequencing, stringent environmental controls, complex bioinformatics, and molecular expertise. An alternative and less complex methodology utilizes rolling circle amplification (RCA). Further evaluation of its performance and related requirements are warranted.

Human chorionic gonadotropin-mediated modulation of pregnancy-compatible peripheral blood natural killer cells in frozen embryo transfer cycles.

Problem: To evaluate pregnancy-compatible phenotypic and functional changes in peripheral blood natural killer (pNK) cells during frozen embryo transfer (FET) cycles.

Method Of Study: Peripheral blood was collected from patients undergoing frozen embryo transfer cycles at three separate time points in the cycle. pNK cell phenotype was analyzed by flow cytometry.

Factors associated with worse cerebrovascular function in aging women with and at risk for HIV.

Objective: Women may be disproportionately impacted by the negative effect of HIV on cerebrovascular risk. We examined the association of HIV, sex, menopause, and immune activation with cerebrovascular function among women with HIV (WWH) and at risk for HIV from the Women's Interagency HIV Study and men with HIV.

Design: Cross-sectional.

Association between a history of depression and anti-müllerian hormone among late-reproductive aged women: the Harvard study of moods and cycles.

Background: There is conflicting evidence regarding the association between a history of depression and risk of early menopause. In a cohort of premenopausal women, we investigated the association between depression history and ovarian reserve, as measured by anti-müllerian hormone (AMH).

Methods: The Harvard Study of Moods and Cycles (HSMC) was a prospective cohort study of women living in the Boston, MA metropolitan-area (1995-1999).

Serum Decorin, Biglycan, and Extracellular Matrix Component Expression in Preterm Birth.

Preterm birth is a leading cause of infant morbidity and mortality. Decorin and biglycan are proteoglycans that play key roles in maintaining the connective tissue matrix and tensile strength of human fetal membranes and have been previously linked to PPROM. Extracellular matrix proteins, such as matrix metalloproteinase 2 (MMP-2), matrix metalloproteinase 9 (MMP-9), TIMP metallopeptidase inhibitor 1 (TIMP-1), TIMP metallopeptidase inhibitor 2 (TIMP-2), and collagen VI (COL-6), have also been linked to PPROM and may have utility in a serum-based screening model for this condition.

Adjusting antimüllerian hormone levels for age and body mass index improves detection of polycystic ovary syndrome.

Objective: To examine whether accounting for a woman's age and body mass index (BMI) would improve the ability of antimüllerian hormone (AMH) to distinguish between women with (cases) and without (controls) polycystic ovarian syndrome (PCOS).

Design: An opportunistic case-control dataset of reproductive age women having evaluations for PCOS as defined by National Institutes of Health criteria.

Setting: Two medical centers in the United States enrolled women.

AMH is Higher Across the Menstrual Cycle in Early Postmenarchal Girls than in Ovulatory Women.

Context: Adolescents have more small, growing follicles and larger ovaries than normal women and are prone to anovulatory cycles (ANOV). It is unknown if a higher antral follicle count (AFC) per se contributes to ANOV in early postmenarchal girls.

Objective: To determine the relationship between AMH (an AFC biomarker), other reproductive hormones, and ANOV in postmenarchal girls and to compare AMH in girls and regularly cycling adults.

Levels of angiogenic markers in second-trimester maternal serum from in vitro fertilization pregnancies with oocyte donation.

Objective: To determine whether differences exist in angiogenic placental growth factor (PlGF) and antiangiogenic soluble vascular endothelial growth factor receptor 1 (sVEGFR-1; both being early markers of placental ischemic disease) in oocyte-donation (OD) pregnancies, compared with autologous in vitro fertilization (aIVF) and spontaneous pregnancies.

Design: Case-control study of residual second-trimester serum samples from women undergoing prenatal screening.

Setting: Academic medical center.

Anthropometric Measures and Prediction of Maternal Sleep-Disordered Breathing.

Study Objectives: Pregnant women are at risk for sleep-disordered breathing (SDB); however, screening methods in this dynamic population are not well studied. The aim of this study was to examine whether anthropometric measures can accurately predict SDB in pregnant women.

Methods: Pregnant women with snoring and overweight/obesity were recruited in the first trimester.

Fewer women aged 35 and older choose serum screening for Down's syndrome: Impact and implications.

Objective: To quantify changes in the proportion of women aged 35 and older choosing serum screening for Down's syndrome over time and the effect on false positive and detection rates.

Methods: From Rhode Island hospital-based laboratory prenatal screening records (2013-2017) we extracted the test performed (Integrated, Combined, Quadruple), maternal age, and Down's syndrome risk; documented observed changes in maternal age distributions and false positive rates, and modelled the impact of varying proportions of older women choosing screening on each test's performance using the 2015 United States birth cohort as baseline.

Results: Over five years, observed false positive rates for Integrated testing declined from 1.

Peripheral deiodinase activity: A potential explanation for the association between maternal weight and gestational hyperglycemia.

Background: High maternal weight is known to associate with both low free thyroxine and gestational diabetes mellitus. We explore a deiodinase-related mechanism that may help explain these associations.

Methods: Among 108 women receiving routine oral glucose tolerance testing for gestational diabetes mellitus, we collected biophysical data and measured free thyroxine and total triiodothyronine, using residual plasma samples.

Snoring and markers of fetal and placental wellbeing.

Introduction: Snoring, the symptom of partial airway obstruction during sleep, is a common complaint during pregnancy and is associated with adverse perinatal outcomes. Mechanisms underlying this association have not been studied. We investigated the relationship between snoring in pregnancy and maternal serum markers of feto-placental wellbeing.

Reproductive health, obesity, and cardiometabolic risk factors among Samoan women.

Objectives: Obesity leads to deleterious effects on not only cardiovascular health but also on the reproductive health of women. We estimate the prevalence of menstrual irregularity and of polycystic ovarian syndrome (PCOS) in Samoan women, among whom obesity prevalence is extremely high. We explore the association of these reproductive health conditions with adiposity, cardiometabolic risk factors, and androgen levels.