Early pregnancy

Pyruvate dehydrogenase complex deficiency (PDCD) is a disorder of mitochondrial metabolism that is caused by pathogenic variants in multiple genes, including PDHA1 . Typical neonatal brain imaging findings in PDCD have been described, with a focus on malformative features and chronic encephaloclastic changes. However, fetal brain MRI imaging in confirmed PDCD has not been comprehensively described. We sought to demonstrate the prenatal neurological and systemic manifestations of PDCD determined by comprehensive fetal imaging and genomic sequencing...

This study aims to assess how commonly 15 parental practices, known to have positive effects on child and adult health, are carried out by families in Italy, if they are related, and which characteristics are associated with implementation. Children participating in the NASCITA Cohort, a prospective study in which family pediatricians in Italy collect data on children and their families, were included if they had sufficient data. Data on practice implementation, socio-demographic characteristics, and interrelatedness between practices were analyzed...

Hemolysis, elevated liver enzyme levels, and low platelet count (HELLP) syndrome is one of the most severe complications of hypertensive disorders of pregnancy. HELLP syndrome occurring before 22 gestational weeks (GWs) is extremely rare, and patients prevalently exhibit underlying maternal diseases or fetal abnormalities. Here, we report the case of a pregnant woman who had HELLP syndrome at 20 GWs without any obvious underlying maternal diseases or fetal abnormalities. A 38-year-old pregnant woman was referred to Kobe University Hospital from another hospital at 19 + 5/7 GWs for hypertension, proteinuria, generalized edema, and fetal growth restriction...

A Japanese woman experienced slowness of movement in her early teens and difficulty in opening her hands during pregnancy. On admission to our hospital at 42 years of age, she showed grip myotonia with warm-up phenomenon. However, she had neither muscle weakness, muscle atrophy, cold-induced symptomatic worsening nor episodes of transient weakness of the extremities. Needle electromyography of the first dorsal interosseous and anterior tibial muscles demonstrated myotonic discharges. Whole exome sequencing of the patient revealed a heterozygous single-base substitution in the CLCN1 gene (c...

Exposome studies are advancing in high-income countries to understand how multiple environmental exposures impact health. However, there is a significant research gap in low- and middle-income and tropical countries. We aimed to describe the spatiotemporal variation of the external exposome, its correlation structure between and within exposure groups, and its dimensionality. A one-year follow-up cohort study of 506 children under 5 in two cities in Colombia was conducted to evaluate asthma, acute respiratory infections, and DNA damage...

INTRODUCTION: Non-immune hydrops fetalis (NIHF) is the most frequent etiology of hydrops fetalis (HF), accounting for around 95% of cases. It associates high perinatal mortality and morbidity rates. The aim of the study was firstly, to investigate etiology, prenatal management, and perinatal outcome in a large single center series of HF; secondly, to identify prenatal prognostic factors with impact on perinatal outcome. MATERIAL AND METHODS: Observational retrospective study of 80 HF diagnosed or referred to a single tertiary center between 2012 and 2021...

Florida manatees (Trichechus manatus latirostris) are protected as a threatened species, and data are lacking regarding their reproductive physiology. This study aimed to (1) quantify plasma steroid hormones in Florida manatees from two field sites, Crystal River and Indian River Lagoon, at different gestational stages and to (2) identify individual lipids associated with pregnancy status. Ultra-high performance liquid chromatography-tandem mass spectrometric analysis was used to measure plasma steroid hormones and lipids...

BACKGROUND: Increased survival rate of extremely preterm children is associated with a higher risk of retinopathy of prematurity (ROP) and long-term sequelae, which implicate retinal changes. PURPOSE: To assess an influence of perinatal characteristics on morphology and retinal vascularity of the macula in preterm children. METHODS: A cohort of 123 preterm children at the age of 10.5 years (IQR: 8.12-12.77) was prospectively assessed...

Cardiovascular disease (CVD) is globally the leading cause of death and disability. Sex-specific causes of female CVD are under-investigated. Pregnancy remains an underinvestigated sex-specific stress test for future CVD and a hitherto missed opportunity to initiate prevention of CVD at a young age. Population-based studies show a strong association between female CVD and hypertensive disorders of pregnancy. This association is also present after other pregnancy complications that are associated with placental dysfunction, including fetal growth restriction, preterm delivery and gestational diabetes mellitus...

The adverse use of alcohol is a serious global public health problem. Maternal alcohol consumption during pregnancy usually causes prenatal alcohol exposure (PAE) in the developing fetus, leading to a spectrum of disorders known as fetal alcohol spectrum disorders (FASD) and even fetal alcohol syndrome (FAS) throughout the lifelong sufferers. The prevalence of FASD is approximately 7.7 per 1,000 worldwide, and is even higher in developed regions. Generally, Ethanol in alcoholic beverages can impair embryonic neurological development through multiple pathways leading to FASD...

OBJECTIVE: To assess the time to initiation of antenatal care (ANC) and its predictors among pregnant women in Ethiopia. DESIGN: Retrospective follow-up study using secondary data from the 2019 Ethiopian Mini-Demographic and Health Survey. SETTING AND PARTICIPANTS: 2933 women aged 15-49 years who had ANC visits during their current or most recent pregnancy within the 5 years prior to the survey were included in this study. Women who attended prenatal appointments but whose gestational age was unknown at the first prenatal visit were excluded from the study...

Massive genotyping in cattle has uncovered several deleterious haplotypes that cause pre-term mortality. Holstein Haplotype 5 (HH5) is a deleterious haplotype present in the Holstein Friesian population that involves the ablation of the Transcription Factor B1 mitochondrial (TFB1M) gene. The developmental stage at which HH5 double-carrier (DC, homozygous) embryos or fetuses die remains unknown and this is a relevant information to estimate the economic losses associated to the inadvertent cross between carriers...

BACKGROUND: Prenatal maternal distress can negatively affect pregnancy outcomes, yet its impact on the offspring's brain structure and function remains unclear. This systematic review summarizes the available literature on the relationship between prenatal maternal distress and brain development in fetuses and infants up to 12 months of age. METHODS: We searched Central, Embase, MEDLINE, PsycINFO, and PSYNDEXplus for studies published between database inception and December 2023...

OBJECTIVES: The finding of an abdominal cyst during pregnancy has an estimated prevalence of 1 in 1000 pregnancies, mostly in second and third trimester. The detection of a fetal abdominal cyst during the first trimester scan is a rare event, whose natural history and prognosis are often unknown and unpredictable as these anomalies can be related to various underlying conditions and originate from different structures. The aim of this study is to evaluate the outcome of fetal abdominal cysts detected in the first trimester in order to understand their possible clinical significance and to offer the proper management according to the available data...

BACKGROUND: Birth defects (BDs) are the major causes of infant morbidity and mortality in both developed and developing countries. Regardless of their clinical importance, few studies on predisposing factors have been conducted in Ethiopia. However, due to a lack of advanced diagnostic materials, we only considered the externally visible BDs. OBJECTIVE: To assess the determinants of externally visible birth defects among perinatal deaths at Adama Comprehensive Specialized Hospital...

CONTEXT: Over the past few years, there has been an increasing amount of scholarly literature suggesting a connection between the nutritional status of pregnant mothers and early fetal development, as well as the long-term health consequences of their offspring. Multiple studies have documented that alterations in dietary patterns prior to conception have the potential to affect the initial stages of embryonic development. OBJECTIVES: The aim of this study was to perform a comprehensive review of the research pertaining to the correlation between phytochemicals ( specifically, polyphenols, carotenoids and phytoestrogens) and assisted reproductive technology (ART)...

OBJECTIVES: To evaluate the implementation of mifepristone and misoprostol for medical management of early pregnancy loss (EPL) in emergency departments (EDs) by comparing efficacy, complication, and follow-up rates for patients treated in EDs to those in the Complex Family Planning (CFP) outpatient office. STUDY DESIGN: In COVID-19's first wave, we expanded medication management of EPL to our EDs. This retrospective study evaluated 72 patients receiving mifepristone and misoprostol for EPL from 4/1/2020-3/31/2021, comparing treatment success, safety outcomes, and follow-up rates by location...

OBJECTIVE: To evaluate factors involved in spontaneous pregnancy rate after surgery for endometriosis in patients with endometriosis and infertility. METHODS: This retrospective study spanned from 2014 to 2020 and included a follow-up period of two years of patients with endometriosis-related infertility who underwent laparoscopic surgery. Women aged 25 to 43 years with patent tubes, no/mild male factor and no other infertility factors were selected and grouped according to fertility management as follows: patients immediately prescribed ART (16...

RATIONALE: The overall pregnancy rate in individuals with an intrauterine device (IUD) for contraception is <1%. If pregnancy occurs while an IUD is in place, there is a higher risk of an ectopic pregnancy. We report the case of a woman with an IUD who was 7 weeks pregnant and experienced a spontaneous abortion 1 week later. PATIENT CONCERN: A 32-year-old woman presented to our outpatient department with intermittent vaginal staining for several days. DIAGNOSES: She was 7 weeks pregnant and had an IUD in place for over 4 years...

BACKGROUND: Congenital syphilis is a vertical infection caused by Treponema pallidum. Despite the implementation of preventive strategies during pregnancy, its incidence is increasing, and it constitutes an important public health problem. Most patients with congenital syphilis are asymptomatic; however, a small group may develop severe disease at birth with the need of advanced resuscitation in the delivery room, acute hypoxemic respiratory failure, and hemodynamic instability. Therefore, awareness is needed...