SEARCH · PubMed Health

Results for “Intrauterine growth restriction”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

10 recordsLinked to original sources

PubMed2024

RNA-seq reveals differentially expressed lncRNAs and circRNAs and their associated functional network in HTR-8/Svneo cells under hypoxic conditions.

Placental hypoxia is hazardous to maternal health as well as fetal growth and development. Preeclampsia and intrauterine growth restriction are common pregnancy problems, and one of the causes is placental hypoxia. Placental hypoxia is linked to a number of pregnancy illnessesv. To investigate their potential function in anoxic circumstances, we mimicked the anoxic environment of HTR-8/Svneo cells and performed lncRNA and circRNA studies on anoxic HTR-8/Svneo cells using high-throughput RNA sequencing. The miRNA target genes were predicted by integrating the aberrant expression of miRNAs in the placenta of preeclampsia and intrauterine growth restriction, and a ceRNA network map was developed to conduct a complete transcriptomic and bioinformatics investigation of circRNAs and lncRNAs. The signaling pathways in which the genes were primarily engaged were predicted using GO and KEGG analyses. To propose a novel explanation for trophoblastic organism failure caused by lncRNAs and circRNAs in an anoxic environment.

Humans↗

PubMed2025

Analysis of prenatal diagnosis and pregnancy outcomes for rare autosomal trisomies detected by non-invasive prenatal testing in 33,079 cases.

BACKGROUND: Non-invasive prenatal testing is widely used for screening common fetal aneuploidy disorders such as trisomy 21, trisomy 18, and trisomy 13. However, its ability to detect rare autosomal trisomies has introduced a new layer of complexity and clinical uncertainty. METHODS: A retrospective analysis was conducted on the prenatal diagnostic results and pregnancy outcomes of cases identified as high-risk for rare autosomal trisomies through non-invasive prenatal testing at the reproductive medicine center, Renmin hospital, Hubei university of medicine, from 2015 to 2023. RESULTS: 66 cases identified as high-risk for rare autosomeal trisomies, yielding a detection rate of 0.20% (66/33,079). 7 declined amniocentesis, while the others underwent the procedure. Prenatal diagnostic procedures did not confirm the presence of the corresponding rare autosomal trisomy in any of these cases. Among the 66 cases of rare autosomal trisomies (RATs), 5 cases were lost to follow-up, and 1 case underwent termination of pregnancy (TOP) for personal reasons, leaving 60 cases with valid pregnancy outcomes. Of these 60 valid outcomes, 50 (83.33%) resulted in full-term births, while 10 (16.67%) experienced adverse pregnancy outcomes. CONCLUSION: Prenatal diagnosis for high-risk rare autosomal trisomies typically reveals a normal karyotype with no detectable chromosomal abnormalities, and most cases can achieve full-term pregnancy outcomes. However, adverse pregnancy outcomes such as preterm birth, fetal demise, placental abnormalities, and intrauterine growth restriction are common and should be given clinical attention and consideration.

Humans↗

PubMed2026

35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations.

HUWE1 (HECT, UBA, and WWE Domain Containing E3 Ubiquitin Protein Ligase1, OMIM 300697), located at Xp11.22, encodes a ubiquitin ligase that is highly conserved across species. Genetic variants in HUWE1 described in multiple independent studies cause X-linked intellectual disability, including in the patients identified by Juberg, Marsidi, and Brooks. This report describes 35 additional cases of individuals with variants in HUWE1 and suggested guidelines for clinical management. Our study includes several female cases, which have not been widely reported previously. Our findings confirm earlier reported clinical features including developmental delay, autism, hypotonia, short stature, and dysmorphic facial features as well as additional multisystemic findings. Intrauterine growth restriction (IUGR) and feeding difficulties were common in the neonatal period. It is notable that nearly all females had de novo variants, and males had de novo or inherited variants from clinically unaffected carrier mothers. Three genetic hotspots were identified in evolutionarily conserved regions of HUWE1 that have clinical impact. This report provides additional characterization of the spectrum of HUWE1-related neurodevelopmental disorder (HNDD).

Humans↗

PubMed2026

Prenatal Phenotypic Features of Five Fetal Cases With RNU4ATAC-Associated Microcephalic Osteodysplastic Primordial Dwarfism Type I.

OBJECTIVE: To present the prenatal sonographic features, genomic findings, and pregnancy outcomes of fetuses with biallelic pathogenic RNU4ATAC variants linked to microcephalic osteodysplastic primordial dwarfism type I (MOPD1). METHODS: This retrospective case series includes five prenatal cases with MOPD1. Diagnoses were established by prenatal ultrasound and genetic testing. Genome sequencing (GS) or targeted exome sequencing (ES) detected the variants either prenatally or after termination of pregnancy (TOP). Clinical data including parental demographics, ultrasound findings, and pregnancy outcomes were collected. RESULTS: All fetuses presented with consistent anomalies on ultrasound including intrauterine growth restriction (IUGR), microcephaly, agenesis of the corpus callosum (ACC), intracranial cysts, lissencephaly, and micrognathia. IUGR was the earliest anomaly detected in all five cases. Prenatal ultrasound findings suggestive of skeletal dysplasia were identified in one case. All cases carried biallelic pathogenic RNU4ATAC variants associated with MOPD1. TOP was chosen in four cases. One fetus was delivered at 39 + 1 weeks with genetic diagnosis confirmed at 27 weeks. CONCLUSION: IUGR, microcephaly and ACC can be detected in fetuses with MOPD1 at around 18 weeks of gestation. Interestingly, skeletal dysplasia was not a consistent prenatal finding. Variants in the non-coding RNU4ATAC gene need to be detected by GS or targeted approaches beyond standard ES.

Humans↗

PubMed2026

Biallelic RDH11 variants cause syndromic retinitis pigmentosa with early-onset cataracts and neurodevelopmental delay: a multicenter case series.

Biallelic variants in the RDH11 gene, a retinol dehydrogenase involved in the visual cycle and systemic retinoid homeostasis, were initially implicated in a rare condition characterized by retinal dystrophy, early-onset cataract, neurodevelopmental anomalies and myopathy, through single-family reports, with this association more recently being confirmed in a larger study. Here, we further establish the pathogenic role of RDH11 by presenting a large multi-center cohort, comprising eight individuals from seven unrelated families. Comprehensive genetic analysis identified homozygous variants in all affected subjects, including two novel variants, strongly supporting loss-of-function as the primary disease mechanism. Detailed clinical phenotyping defined a consistent and severe multisystem disorder. Ophthalmologically, the hallmark features include bilateral congenital or early-childhood cataracts requiring surgical intervention, accompanied by retinitis pigmentosa (RP). In terms of extra-ocular involvement, the cohort exhibited a high prevalence of neurodevelopmental delay, including intellectual disability, autistic spectrum disorder and learning difficulties. These features were frequently accompanied by congenital microcephaly, intrauterine and postnatal growth restriction, facial dysmorphisms, and dental anomalies. By significantly expanding both the mutational and phenotypic spectrum of RDH11-related disease, our findings provide independent replication of this gene-disease association and definitively support RDH11 as a bona fide syndromic RP gene.

Journal Article↗

PubMed2026

Integrated multi-omics profiling of amniotic fluid identifies predictive biomarkers for fetal growth restriction trajectories.

BACKGROUND: Fetal growth restriction (FGR) is a complex condition with highly heterogeneous clinical outcomes, making prenatal distinction between transient and persistent growth failure challenging. This study aims to identify amniotic fluid (AF) biomarkers capable of differentiating distinct FGR trajectories and characterizing persistent growth failure mechanisms. METHODS: Integrated proteomic and metabolomic profiling was performed on AF samples from transient FGR (n = 11), persistent FGR (n = 9), and healthy controls (n = 13). Diagnostic and prognostic models were developed using multivariate analysis. Selected protein candidates were validated via ELISA in an independent cohort (n = 69). RESULTS: Multi-omics analysis revealed distinct molecular signatures for FGR stratification. A two-protein diagnostic panel (PDGFA and phospho-STAT5A) achieved an AUC of 1.000 in the discovery stage and 0.780 in the external validation cohort. For prognostic assessment, a molecular signature including IREB2, HLA-C, and PLXNB2 accurately predicted persistent growth failure from transient recovery (AUC = 0.966). Cross-platform integration highlighted the mass spectrometry-derived WASHC2C as a central hub protein with a significant progressive increase across the control, transient, and persistent groups (p < 0.001). CONCLUSIONS: This study establishes a multi-omics framework for prenatal FGR stratification. Our findings identify distinct molecular signatures reflecting the intrauterine environment and provide high-performance molecular tools for predicting divergent fetal growth trajectories to guide personalized clinical decision-making.

Humans↗

PubMed1976

Placental glycogen.

The quantity and distribution of glycogen has been studied in 86 placentae from the last trimester of pregnancy and 8 of 8 to 16 weeks gestational age. In the first trimester glycogen concentrations were high, between 4-5 to 6-5 mg/g of blood-free tissue, but from about 12 weeks to term the concentrations were within a narrow range around 1-5 mg/g. The level did not deviate appreciably from normal in a range of clinical conditions: diabetes, intrauterine growth retardation, pre-eclampsia or acute fetal distress, and was unaffected by the length of labour and whether or not the mother had been given an infusion of dextrose. Nor was it affected by a wide range of glucose concentrations in the maternal and fetal plasma and in the placental tissue itself or by insulin concentrations in either circulation. After the first few weeks of pregnancy glycogen in the placenta was shown to be restricted to the vicinity of major fetal blood vessels. Here it may be presumed to act as an energy reserve for vasomotor activity. All the evidence suggests that any importance placental glycogen may have is likely to be local, in relation to the placental vessels; a more general role, as an emergency energy source for the fetus, seems unlikely.

Birth Weight↗

PubMed1977

Alternatives to female sterilization.

With national policies aimed at reaching zero population growth in the shortest possible time, many countries have introduced restrictive legislation and disincentive programs in an attempt to decrease family size norms to 2 or 3 children. As a result, younger women of lower parity are being sterilized, with consequences that will be seen in the years to come. Although female sterilization is usually associated with minimal complications and side effects and is highly effective without continuing motivation or promotion, it has the disadvantage of causing permanent, essentially irreversible sterility. Therefore, it will not be readily acceptable to a large portion of the population. For many women, alternatives must be sought. Reversible methods of female or male sterilization, longacting systemic contraceptives, longacting implants, and immunization against implantation or sperm antigens are potential alternatives, but all are still in experimental stages of development. Intrauterine devices and injectables are the 2 most effective alternatives now available. The use of intrauterine devices with abortion as a backup in case of contraceptive failure ranks high as an alternative to female sterilization.

Animals↗

PubMed1979

Diagnosis and treatment of twin pregnancy.

Early detection is a prerequisite for the active management of twin pregnancy. Detection rate was not, or was only slightly, increased by improved anamnesis or more alert physical examination. General placental lactogen screening selected 95% of the twins but implied a subsequent ultrasonic screening examination of 16% of the pregnant population for the definitive diagnosis. A general screening programme with ultrasound detected 90% of the twin pregnancies (methodological error 1.7%; not participating 8%) in the mid-trimester. Extensive restriction of maternal physical activity from the 29th to the 36th gestational week by bed rest in hospital reduced perinatal mortality to the level of singletons and also decreased the incidence of neurological and mental handicap among the surviving twins. For the supervision of twin pregnancy, urinary estriol estimates predict birth weight rather than fetal distress. Monitoring with repeated ultrasonic biparietal diameter measurements seem limited in value; even large intertwin BPD differences are not indicators of fetal distress in the smallest twin. The decrease of perinatal mortality and morbidity among twins subjected to special antenatal supervision suggests that large gains can be made by early detection and antenatal hospitalization. The earlier finding that impairment of the intrauterine supply line is closely associated with neurological sequelae gives added importance to the reduction of CNS handicap and of growth-retarded fetuses observed during such a programme.

Bed Rest↗

PubMed1979

Studies on experimental growth retardation in sheep. The effect of removal of a endometrial caruncles on fetal size and metabolism.

Experimental intrauterine growth retardation was studied in sheep. Endometrial caruncles (anlagen of maternal cotyledon) were removed before pregnancy and at a second operation, catheters were implanted into the ewe and fetus at 105-135 days of pregnancy. Three groups of fetuses were defined: low birthweight-for-dates (small-caruncle), normal birthweight-for-dates (normal-sized-caruncle) from ewes which had endometrial caruncles removed and the controls. The mean placental weights in these groups were 139 plus or minus 5 g, 283 plus or minus 46 g, 334 plus or minus 22 g respectively. The brains, kidneys and adrenals of the small-caruncle-fetuses were significantly greater in proportion to body weight than in the controls and the appearance of ossification centres was delayed. Arterial oxygen tension was lower and packed cell volume higher in the small-caruncle-fetuses (PaO2 15 plus or minus 0.6 mmHg; packed cell volume 37.3 plus or minus 1.6%) and normal sized caruncles (PaO2 20.7 plus or minus 1.2 mmHg; packed cell volume 35.2 plus or minus 0.7%) than in the controls (PaO2 23.2 plus or minus 0.7 mmHg; packed cell volume 29.8 plus or minus 0.7%). Plasma concentrations of glucose (0.65 plus or minus 0.12 micromol/ml), lactate (0.9 plus or minus 0.1 micromol/ml) and pyruvate (0.08 plus or minus 0.025 micromol/ml) were lower in small-caruncle fetuses than in the control fetuses (glucose 1.05 plus or minus 0.06 micromol/ml, lactate 1.83 plus or minus 0.7 micromol/ml, pyruvate 0.21 plus or minus 0.06 micromol/ml). The corresponding values for the normal-sized-caruncle fetuses were glucose 0.71 plus or minus 0.12, lactate 1.18 plus or minus 0.7 and pyruvate 0.12 plus or minus 0.03 micromol/ml. The plasma concentration of alanine in the small-caruncle-fetuses (0.25 plus or minus 0.09 micromol/ml) was higher than in the normal-sized-caruncle (0.073 plus or minus 0.009 micromol/ml) or control fetuses (0.12 plus or minus 0.013 micromol/ml). The results indicate that fetal growth retardation due to restriction of placental growth after removal of endometrial caruncles is associated with chronic hypoxaemia, polycythaemia and hypoglycaemia. The restriction of nutrient supply probably accounts for the altered pattern of fetal growth but the relative importance of the changes observed remains uncertain.

Age Determination by Skeleton↗