Articles tagged with Birth Defects
Researchers at the Francis Crick Institute and UCL have identified a gene that causes heart defects in Down syndrome, a condition resulting from an extra copy of chromosome 21. Reducing the overactivity of this gene partially reversed these defects in mice, setting the scene for potential future therapies.
A subset of CD4+ 'helper' T cells helps fight cytomegalovirus infection and reduces the chances of transmission. The late-rising T cells expand long after the initial response has died down, gathering in high numbers in the salivary gland.
A study of 620,000 children found that maternal type 1 diabetes was associated with increased risk for most types of congenital heart defects in offspring. Obesity and overweight were linked to increased risk for complex defects, such as outflow tract obstruction, while decreasing the risk for ventricular septal defects.
The study identifies FAM53C as a cytosolic-anchoring inhibitory binding protein of the kinase DYRK1A, regulating its activity and cellular location. This finding may provide potential clinical insights into treating Down syndrome and related diseases.
Researchers found that cytoglobin, a protein similar to hemoglobin, plays a vital role in the correct left-right pattern of the heart and other asymmetric organs. The study's findings could lead to new therapeutic interventions for rare birth defects affecting cilia function.
Researchers at Texas A&M University found that it takes over a month for negative alcohol effects to wear off, and fathers' sperm are still negatively impacted by drinking even during the withdrawal process. The study suggests that men should abstain from alcohol at least three months prior to conceiving.
Researchers at Gladstone Institutes have identified cells and molecules that go awry in the developing hearts of fetuses in women with diabetes, leading to higher levels of retinoic acid activity. The study could eventually lead to interventions to lower heart malformations risk in babies born to women with diabetes.
Researchers create a new, multi-chamber organoid model of the human heart, enabling them to advance screening platforms for drug development, toxicology studies, and understanding heart development. The model reveals intricate communication between chambers and provides insight into early heart development.
A recent study led by Duke-NUS Medical School found that prior maternal dengue immunity substantially increases the risk of severe birth defects induced by Zika virus infection during pregnancy. Pregnant mothers with pre-existing dengue antibodies are more likely to experience microcephaly and brain damage in their foetuses after Zika ...
A new study validates Low-Pass Genome Sequencing (LP GS) as a robust and cost-effective alternative to Chromosomal Microarray Analysis (CMA) for prenatal diagnosis. LP GS detects six additional Copy Number Variations (CNVs) in cases with negative CMA results, highlighting the importance of sequencing depth in its detection sensitivity.
Researchers at Children's National Hospital used magnetic resonance spectroscopy to find new biomarkers that reveal how CHD changes an unborn baby's brain chemistry. The study found altered levels of choline and N-Acetyl aspartate-to-choline ratios, potentially representing disrupted brain development.
A study of over 850,000 Australian children born between 2009 and 2017 found a small increased risk of birth defects among those conceived through fertility treatment, partly attributed to parental infertility. The use of intracytoplasmic sperm injection (ICSI) was also associated with an increased risk for genitourinary abnormalities.
A recent study by UTHealth Houston found that the offspring of adolescent and young adult women with a history of cancer face a higher risk of birth defects. The study examined 6,882 offspring ages 12 months and younger and found an increased risk of specific types of defects in the offspring of women with a history of cancer.
Researchers at Tulane University discovered that prior exposure to Cytomegalovirus (CMV) significantly reduces the risk of birth defects and miscarriage during pregnancy. The study found that pre-existing immunity effectively limits transmission and protects against associated birth defects.
Researchers at Baylor College of Medicine have discovered a potential treatment for Zika-associated fetal abnormalities using microRNA. They found that the antibiotic enoxacin can abolish placental Zika virus persistence and rescue associated microcephaly in mouse models.
Researchers found that DiNP exposure impairs blood vessel formation in maternal tissue and placenta, leading to smaller litter sizes and shorter gestation periods. The study suggests a ripple effect, impairing embryo growth.
Researchers discovered a bacterial protein that contributes to genomic instability and birth defects. The study found that mice exposed to the protein experienced reduced fertility and increased birth defects, shedding light on potential cancer connections.
A new AI model predicts which existing medicines may lead to congenital disabilities by analyzing genetic associations, drug targets, and gene expression changes. The study's findings have the potential to improve reproductive health and fetal development by identifying potential toxins in new drugs.
Researchers from Sanford Burnham Prebys have identified new genes that contribute to hypoplastic left heart syndrome (HLHS), a rare and life-threatening heart disease. The findings, published in eLife, bring scientists one step closer to unraveling the biology of this complex disease.
A new study reveals that biscuspid aortic valve is caused by mutations in the MINDBOMB1 gene, with significant implications for developing alternative treatments to surgery. The research combines genome sequencing and gene editing techniques to analyze the mechanisms of this congenital defect.
Researchers at Trudeau Institute and Texas Biomedical Research Institute found that prior dengue infection can worsen Zika virus outcomes during pregnancy. Pregnant marmoset monkeys infected with dengue passed significantly more Zika virus to their fetuses than those without dengue, suggesting a link between the two viruses.
A new study from the Stowers Institute for Medical Research reveals the placenta's polyploid cells play a vital role in supporting healthy embryonic development. The modified cell cycle controlling polyploidy is governed by the regulatory gene Myc, which supports DNA replication and prevents premature cellular aging.
A new analysis of secret industry documents reveals that the chemical industry knew about the dangers of PFAS but failed to disclose this information to the public and regulators. The study examines how the industry used tactics to delay public awareness and regulations, with devastating consequences for human health and the environment.
Researchers successfully demonstrate AAV vector efficacy in aged animal models, showing robust hearing rescue in mice with a mutation equivalent to a defective human gene. The study suggests that virally mediated gene therapy could potentially treat genetic hearing loss, especially for patients diagnosed at advanced age.
A recent study has revealed how genetic and environmental factors interact to cause cleft lip or palate in a developing fetus. The research found that mutations in the e-cadherin gene combined with exposure to inflammatory risk factors during pregnancy can lead to cleft lip, which affects one in 700 live births.
A new study found that photon-counting computed tomography (PCCT) provides sharper images and less image noise than dual-source CT (DSCT) in infants with suspected cardiac heart defects. The PCCT images had higher mean overall visual image quality ratings and were more than 97% diagnostic quality, compared to 77% for DSCT.
Scientists have defined a basic toolkit for forming tubular organs in animals, which is thought to be the foundation of organ development in vertebrates. The study uses the sea star as a model organism and reveals that cells can proliferate and migrate simultaneously during tube formation.
A multicentre prospective cohort study found that women using traditional Chinese medicine before and during pregnancy had a 2.1-times higher risk of congenital malformations compared to those without exposure. The study identified significant associations with early pregnant use and the use of two or more types of products.
Research at Texas A&M University reveals that a father's alcohol consumption before conception can lead to FAS-related craniofacial differences in offspring. The study challenges the existing dogma that only maternal alcohol exposure causes fetal growth defects.
Cases of Candida auris, a highly contagious fungal infection, rose drastically between 2019 and 2021, with an increase in echinocandin-resistant cases. The findings emphasize the need for improved detection and infection control practices to prevent the spread of C auris.
Researchers at Baylor College of Medicine investigated neural crest cell development to better comprehend and treat craniofacial birth defects. They discovered that changes in chromatin accessibility are regulated by the miR-302 microRNA family, which can be used to generate healthy cells for regenerating craniofacial defects.
A 20-year study reveals that recent advances in surgical and clinical care have significantly reduced brain injuries in babies with congenital heart disease. Infants who received higher postoperative blood pressure had a 20% lower risk of brain injury compared to those in earlier stages.
Research from Texas A&M University reveals that male alcohol use has a significant negative influence on in vitro fertilization (IVF) success rates. The study highlights the importance of expanding fertility and prepregnancy messaging to emphasize the reproductive dangers of alcohol use by both parents.
A team from Cincinnati Children's Hospital Medical Center discovered how segmentation clock genes instruct the tempo of spine formation, opening doors to new basic science research. By inducing segment formation in zebrafish without biological clocks, the researchers aimed to understand the origins of birth defects in humans.
Researchers from Children's Hospital of Philadelphia identified several genetic variants associated with increased cancer risk in children with non-chromosomal birth defects. The study found that these variants were more commonly found in genes related to birth defects and cancer, suggesting a potential basis for early detection.
Researchers at Weill Cornell Medicine have identified an ultrapotent IgM antibody that neutralizes the Zika virus and prevents infection in preclinical models. The discovery could lead to the development of therapies to protect babies from birth defects caused by Zika.
A large Nordic study found that children born to mothers with preeclampsia have higher risk of ischemic heart disease and stroke. The association holds even after accounting for other birth complications such as preterm birth and low birth weight.
A new study found that stop-and-go traffic may be linked to reduced birthweight, with a nine-gram decrease in weight among infants born to parents who reside in areas with heavy traffic. This association was seen even after controlling for background air pollution levels and other environmental co-exposures.
Researchers found that the presence of one Mindbomb1 mutation does not always lead to non-compaction cardiomyopathy, but depends on genetic context provided by other gene mutations. The study identified modifier genes contributing to disease severity and diversity in affected individuals.
A large clinical trial found that administering steroids during infant heart surgery did not improve post-operative outcomes compared to placebo. However, secondary analysis revealed a small net benefit for some infants, with lower odds of bleeding requiring another operation.
A recent study by pediatric cardiologists has found that certain maternal health conditions can partially explain the racial disparities in congenital heart disease outcomes. The research assessed over 8,000 infant and mother records from diverse populations and identified placental and metabolic syndromes as contributing factors.
A University of Ottawa-led team has developed an AI-based deep learning model to identify cystic hygroma, a rare and life-threatening disorder, from first-trimester ultrasound scans with high sensitivity and specificity. The approach may be applied to other fetal anomalies identified by ultrasonography.
Researchers found that infected mice and humans emit a specific molecule, acetophenone, which attracts mosquitoes. This altered scent allows the viruses to spread faster. A potential preventative, isotretinoin, was also tested and shown to reduce mosquito attraction.
The American College of Physicians (ACP) says inadequate access to nutritious food negatively impacts the health of many Americans, exacerbating social factors and leading to various health issues. The ACP recommends strengthening the nation's food insecurity response and empowering physicians to address social drivers of health.
Researchers have generated molecular maps of the second week of gestation, revealing the biochemical signals that control human embryo development. This breakthrough provides a crucial reference for studying birth defects and pregnancy loss in humans.
Researchers found thalidomide to be an effective treatment for severe arteriovenous malformations (AVMs), reducing symptoms and improving quality of life in patients. The study showed a striking reduction in symptoms, with some patients experiencing complete cure after treatment.
A new Northwestern Medicine study has found that the COVID-19 vaccine is not associated with birth defects that are detectable on ultrasound. The study analyzed electronic medical records from a cohort of 3,156 pregnant people who received at least one vaccine dose and found no increased risk of major fetal structural anomalies.
A large cohort study found that babies born to men who took metformin during sperm development were at increased risk for genital defects in boys. Diabetes control affects sperm quality, so men should discuss alternative treatments with their doctors before conception. The findings suggest a need for further study on treatment of prosp...
New research from Rutgers University sheds light on the genetic mechanisms of reproductive disorders, including infertility and miscarriage. The study reveals how the RNA helicase YTHDC2 regulates meiosis, a critical step in egg and sperm development.
A new test procedure using human stem cells identifies chemicals that may cause birth defects in humans. The method assesses the likelihood of toxicity by monitoring disturbances in precisely programmed signaling pathways.
Researchers from Duke-NUS Medical School found that Zika virus infection disrupts the glucose metabolism pathway in infected foetuses, leading to birth defects and death. A potential supplement, pyruvic acid, may protect foetuses from these impacts.
A new study by researchers at Mount Sinai found that a specific gene, HHIP, helps regulate the development of the coronal suture, a fibrous joint that connects the front and middle bone plates. The study showed that embryos with a missing HHIP gene had misshapen skulls and fewer mesenchymal cells separating the bones.
Researchers at University College London discovered that embryonic cells can navigate towards harder regions using chemical and mechanical signals, guiding the formation of facial features. This breakthrough could help prevent birth defects and infant mortality by improving understanding of cell migration mechanisms.
A new study reveals that THC can cause birth defects in genetically predisposed mice, highlighting the risks of cannabis consumption during pregnancy. Pups with a mutation in Hedgehog signalling developed brain and face defects, emphasizing the need for further research into human health implications.
Researchers at McGill University found that smoking during pregnancy is associated with an increased risk of premature birth, low birth weight, and birth defects. The study, which examined over nine million deliveries, also discovered that smoking mildly decreases the risk of preeclampsia.
Researchers created the first detailed cell-by-cell description of how the coronal suture develops, identifying new genes and cell types involved in generating stem cells that grow skull bones. The study aims to advance new interventions for patients with craniosynostosis.
A study published in The Lancet found that survival rates for babies born with intestinal tract birth defects differ significantly across countries, with low-income countries facing a higher mortality rate. Improving antenatal diagnosis, surgical care, and perioperative care are key to increasing survival rates, the researchers say.
A recent study published in JAMA Pediatrics examined the association between paternal drinking before pregnancy and the risk of birth defects in Chinese children. The research found a significant correlation, suggesting that fathers' consumption of alcohol prior to conception may pose a potential threat to fetal development.
A study published in The BMJ found that people born with major birth defects face a higher risk of cancer throughout life. The relative risk is greatest in childhood, but the risk persists into adulthood. Major birth defects are associated with an increased risk of various types of cancer, including leukemia.
Researchers at the University of Maryland discovered how Zika virus hijacks cellular machinery to break down KPNA2 protein, essential for neural development and communication. This process, known as autophagy, may lead to neurological or brain deficiencies in newborns born to infected pregnant women.