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Results for “Fetal Alcohol Spectrum Disorders”

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At least 19 recordsLinked to original sources
PubMed2025

Discovery of a DNA methylation episignature as a molecular biomarker for fetal alcohol syndrome.

PURPOSE: Fetal alcohol spectrum disorder (FASD) encompasses a range of clinical features and neurodevelopmental disorders in children exposed to alcohol in utero. Despite its global public health significance, FASD diagnosis remains challenging because of nonspecific clinical findings and the lack of an accurate molecular diagnostic biomarker. This study aimed to evaluate peripheral blood DNA methylation (DNAm) profiles as a potential diagnostic biomarker for fetal alcohol syndrome. METHODS: Genomic DNAm profiles from 93 individuals with suspected or confirmed FAS, including a clinically diagnosed FAS subgroup, were analyzed and compared with a large database of control and patient cohorts with previously reported DNAm episignatures. Functional analysis of these DNAm profiles was performed to identify episignatures and assess their potential diagnostic utility. RESULTS: A relatively sensitive and specific DNAm episignature for FAS was identified. Comparative epigenomic analysis revealed functional correlations between FAS and other rare genetic disorders, supporting the robustness of the identified DNAm profiles as a diagnostic tool. CONCLUSION: This study demonstrates that unique DNAm profiles provide a robust episignature biomarker for FAS. These findings contribute to the molecular understanding of FAS and hold promise for improving diagnostic accuracy for this complex disorder.

Humans↗
PubMed2026

Prenatal Alcohol Exposure Produces Selective Changes in Neuroimmune Gene Expression Across Brain Regions of Adult Mice.

BACKGROUND: An overwhelming body of evidence suggests neuroimmune dysfunction as a key underlying mechanism of fetal alcohol spectrum disorder (FASD)-associated adverse central nervous system (CNS) outcomes. While few studies have highlighted the lingering effects of prenatal alcohol exposure (PAE) on producing specific immune factors, others suggest a primed neuroimmune state in adulthood, in which a proinflammatory bias is unmasked following subsequent immune activation in later life. However, the PAE-induced neuroimmune landscape in adulthood remains poorly defined. We hypothesized that PAE induces long-term changes in gene expression linked to neuroimmune function that may be brain region-specific. METHODS: Using long-read next-generation RNA sequencing of brain tissues from a previously established model of a moderate PAE in mice, we compared across six regions: medial prefrontal cortex (mPFC), anterior cingulate cortex (ACC), hypothalamus, hippocampus, midbrain, and medulla. A comprehensive bioinformatics analysis investigated PAE-induced changes, dysregulated gene pathways, and transcriptional regulators with a focus on neuroimmune function. RESULTS: Our data identified at least 60 differentially expressed genes per brain region, many of which were associated with neuroimmune function. Upregulation of multiple pro-inflammatory factors and pathways was observed, suggesting ongoing baseline neuroimmune activation, potentially involving PXR, TNF, TLR4, the complement pathway, and various cytokine and chemokine signaling. A comparative analysis identified multiple upstream transcriptional regulators across multiple brain regions, including MECP2, TCF7L2, and IL-4. Importantly, this unbiased analysis revealed heterogeneity across brain regions in the activation of canonical immune pathways and highlighted previously unprecedented roles of pathways such as PXR, matrix metalloproteases, and cytokine signaling (e.g., IL-15, IL-27, IL-17) in PAE. CONCLUSIONS: PAE creates a unique inflammatory signature in the adult brain, even in the absence of secondary injury, with novel patterns of region-specific changes in genes implicated in glial-immune function. These data identify potential immune targets to elucidate the mechanisms underlying behavioral dysfunction and provide a framework for future therapeutic interventions.

Animals↗
PubMed2026

Cloning of human DING: Developmental expression and downregulation by EtOH in-utero.

INTRODUCTION: An estimated 15-20% of women consume alcohol (EtOH) during pregnancy. Women with alcohol use in early pregnancy are likely to have a child with fetal alcohol spectrum disorders (FASD). Recently, we reported neuroprotective effects of human DING (a member of the DING family of phosphatases) against EtOH-mediated toxicity in rats and in human fetal cortical neurons in vitro. Now, we report the sequencing and developmental expression patterns of endogenous DING in human fetal brain. METHODS: DING cDNA was cloned from human U87MG astrocytoma cells with primers specific to the plant DING gene and known prokaryotic DING genes. This cDNA was used to prepare antibodies. The full-length human DING gene p38hu (1095 nucleotide bases) is flanked by the first initiating codon, ATG, and the last, stop codon, TAA. Post-mortem fetal tissues and maternal blood were collected during pregnancy between 8 and 37 weeks' gestation. The developmental, spatial, and temporal expression of DING protein in fetal brain tissue was analyzed by immunohistochemistry. Developmental expression of DING in fetal brain and placenta was quantified by qWestern blots. DING promoter expression was assayed by ddPCR. Statistical analysis included ANOVA. RESULTS: Sequencing revealed different-sized genomic DNA clones. The anti-DING antibody detected proteins ranging in size from 35 to 40 kDa, and high molecular weight precursor protein in fetal brain and placenta. DING protein was present in fetal brain at early stages and its level was increased at later gestational ages. The DING promoter was expressed in fetal brain, neurospheres, and fetal brain-derived exosomes. DING levels were reduced in samples exposed to maternally consumed alcohol. CONCLUSIONS: Because DING is neuroprotective, its reduced expression in fetuses exposed to alcohol may suggest a mechanism that contributes to the pathogenesis of FASD, which could lead to the development of therapeutic tools aimed at preventing, ameliorating or reversing this prevalent group of syndromes that are implicated in as many as 5% of births world-wide.

DING gene cloning↗
PubMed1992

Congenital defects of the limbs and alcohol exposure in pregnancy: data from a population based study.

Limb deficiency may occur in offspring prenatally exposed to alcohol. In a study on limb deficiency occurring in 1,213,913 consecutive liveborn infants in British Columbia, born in the years 1952-1984, a total of 659 cases with limb deficiency was identified. Cases with documented maternal alcohol abuse in pregnancy in this group were analyzed separately. We found eight cases with severe prenatal alcohol exposure (6 F, 2 M). In six of the eight cases a terminal transverse defect of the forearm or hand was present. In the remaining two cases ulnar defects were identified. These observations give further support to the hypothesis that intrauterine alcohol exposure may cause limb defects. This has also been demonstrated in experimental animals. Terminal transverse defects made up a larger proportion of cases with known alcohol exposure (6/8) than of cases where alcohol exposure was not noted (217/651) (chi 2 = 6.13; P < 0.025) in this study. The defects primarily involved the right hand and forearm. This suggests a vascular origin of the limb defects after intrauterine alcohol exposure.

Abnormalities, Drug-Induced↗
PubMed1979

Prenatal ethanol exposure in mice: teratogenic effects.

C57BL/6J mice were fed a liquid diet in which 17, 25, or 30% of the calories were derived from ethanol from the fifth through the tenth day of gestation. Control mice were fed lab chow or pair-fed identical diets, except that sucrose substituted isocalorically for ethanol. At term the fetuses were removed and, following fixation, examined by microdissection. The incidence of fetal resorptions and congenital malformations increased in a dose-related manner. Anomalies included skeletal, neurological, urogenital, and cardiovascular systems. These data indicate that in mice, an alcohol diet which is adequate in vitamins and protein results in increased fetal wastage and birth defects.

Abnormalities, Drug-Induced↗
PubMed1979

Effects on the child of alcohol abuse during pregnancy. Retrospective and prospective studies.

Retrospective and prospective investigations of children to alcoholic women gave an incidence of fetal alcohol lesion of one per 300 deliveries of whom half had the complete fetal alcohol syndrome. Perinatal and infant mortalities were increased seven to tenfold and low birth weight (less than or equal to 2 500 g), preterm deliveries (less than 37 weeks) and smallness for gestational age (less than -2 S.D.) were increased eightfold, threefold and twelvefold, respectively. Small size at birth correlated with reduced mental performance later in life, 58% had IQ below 85 and 19% below 70.8% had cerebral palsy. The incidence of cerebral palsy associated with maternal inebriety was 1/5 000 deliveries, i.e. every sixth case of cerebral palsy. Tracing of alcoholic women during pregnancy and treatment gave favourable effect on intrauterine growth when sobriety could be induced early in pregnancy but could not protect from functional brain disturbance measured by neurological performance and be evoked response electroencephalography. Damage to the fetus by alcohol is now the largest known health hazard by a noxious agent that is preventable.

Alcoholism↗
PubMed1992

[Effects of acetaldehyde exposure on maternal rats and their offspring].

The effects of intake of acetaldehyde, the proximal metabolite of ethanol, were studied in two groups of Fischer strain rats. Virgin rats were mated at 3 months of age or at 8 months of age. The acetaldehyde intake group (AcH) was given a 2% aqueous solution of acetaldehyde for the first time on the first day of pregnancy. The solution was then given once a day, oral net acetaldehyde 240 mg/kg b.w. through gestation, labor and lactation. The control group was not exposed to acetaldehyde. Comparative observations were made on both maternal rats and their offspring. 1) Maternal body weight gain between the first and 20th day of pregnancy was significantly low in the AcH group compared with the control group (3-month-old: p less than 0.05, 8-month-old: p less than 0.05). As for placental weight, 3-month-old AcH mothers showed no significant differences from the controls, whereas 8-month-old AcH mothers weighed significantly less than those in the control group (p less than 0.01). Histological investigation disclosed that the brain, liver, and kidney had slight changes in all AcH mothers, whereas the control group showed almost no changes. 2) The average number of fetuses at the 20th day of gestation, neonates per litter, did not significantly differ among the groups. 3) As for the body weight of the offspring of 3-month-old mothers, the AcH neonates and 10-day-old offspring weighed significantly less than those in the control group (p less than 0.01, p less than 0.01). In the case of 8-month-old mothers, the AcH fetuses at the 20th day of gestation and neonates weighed significantly less than the controls (p less than 0.01, p less than 0.01). 4) Histological study of the brain, lung, liver, kidney, and thymus in offspring revealed remarkable visceral immaturity and hemorrhage in the AcH group, as compared to the controls.

Acetaldehyde↗
PubMed1992

[Alcohol drinking and intrauterine dystrophia. Effects and significance in infancy].

In a prospective study intrauterine growth retardation (IUGR) (less than 10. growth percentile at birth) was used as a predictor to diagnose intrauterine alcohol exposure. An interview about maternal alcohol consumption was performed prenatally--when IUGR was diagnosed by ultrasound--or postnatally. The children were followed up to 18 months of age. In 6/47 children we diagnosed various degrees of the Fetal Alcohol Syndrome FAS, with only one patient showing a full blown syndrome at birth. 5 patients could not be identified until the pediatric reexamination at the age of 8-18 months. IUGR and a maternal history of even moderate drinking during pregnancy should emphasize the possibility of an intrauterine alcohol damage, even in a normal child at birth.

Alcohol Drinking↗
PubMed1991

Fetal alcohol syndrome: report of a case.

Fetal alcohol syndrome is an uncommon occurrence in Taiwan, especially in the southern area. We report here a case who demonstrated severe intrauterine growth retardation with major limb reduction, chest hypoplasia and characteristic facial dysmorphism-short palpebral fissures, hypoplastic philtrum, and a thin upper lip. The mother had been consuming large quantities of alcohol, 6 bottles of "rice wine" per day (800 grams of absolute alcohol per day) during the pregnancy. The maternal serum level of ethanol was as high as 173 mg/dl. According to previous reports, we causally suggest that maternal ethanol abuse may be related to fetal anomalies in this case.

Adult↗
PubMed1979

In utero opiate dependence and sudden infant death syndrome.

Infants born to smoking, alcoholic, and drug-dependent women appear to suffer increased prenatal and postnatal growth deficiency, vascular changes, and hypoxic episodes as a result of decreased oxygen carrying capacity in the blood, depression with overdose, and withdrawal symptoms. The author reviews these associations and suggests further research to clarify their role in the sudden infant death syndrome.

Alcoholism↗
PubMed1979

The teratogenic effect of acetaldehyde: implications for the study of the fetal alcohol syndrome.

Pregnant mice were injected intravenously with either saline alone (controls) or 1% or 2% acetaldehyde in saline, on days 7, 8 and 9 of gestation. The uterine contents were examined either on day 10 or on day 19. Acetaldehyde-treated females had more resorptions both at mid-gestation and at term, though no significant difference in maternal weight gain was observed. Experimental embryos examined on day 10 were smaller, and had a higher incidence of developmental delay, as compared to controls. Anomalies of closure of the cranial and caudal regions of the neural tube were the most commonly noted defects. When examined on day 19, acetaldehyde-treated fetuses were significantly smaller and weighed less than controls. These results suggest a role for acetaldehyde in the production of some of the teratogenic effects of ethanol manifested in the fetal alcohol syndrome.

Abnormalities, Drug-Induced↗
PubMed1979

Alcohol embryopathy and diabetic fetopathy in the same newborn.

Both alcohol embryopathy and diabetic fetopathy were observed in the same female child. The mother was known to be alcoholic as well as diabetic. At birth the signs of diabetic fetopathy predominated: the child showed edematous subcutaneous fat, birth weight was 3650 g. The heart was enlarged. The patient's blood sugar levels ranged from 0 to 1.4 mMol/1 (0-25 mg/dl). Features of alcohol embryopathy were typical craniofacial dysmorphy, hypotonia of muscles and hyperexcitability. Later on the features of alcohol embryopathy predominated: the child became dystrophic with pronounced microcephaly, and the craniofacial dysmorphy clearly resembled other patients with alcohol embryopathy. This observation is in favour of the hypothesis, that alcohol induces cell hypoplasia in the embryo resulting in postnatal growth retardation. Maternal and consequently embryonic and fetal hyperglycemia induced cell hypertrophy in the embryo and fetus, which compensated the effect of alcohol on birth weight in our patient.

Abnormalities, Multiple↗