Articles tagged with Birth Defects
A major European study published in PLOS One found that children from disadvantaged backgrounds are more likely to die from congenital anomalies, with the risk increasing after infancy. The research highlights the influence of social and economic factors on health outcomes, particularly in countries with lower GDP per capita.
A new study found that folic acid works with the enzyme ALDH1L1 to produce retinoic acid, a critical developmental signal for the nervous system. Folic acid's protective effect is lost when ALDH1L1 is disrupted, supporting its role in preventing neural tube defects.
A new survey from the Annenberg Public Policy Center finds significant increases in knowing how a mother's pre-pregnancy health affects her baby, as well as rising awareness of drinking beer or wine during pregnancy being not safe. However, uncertainty persists about other maternal health recommendations.
Researchers reconstructed the most detailed map of molecular machines that carried out life's functions in an ancient ancestor, revealing hundreds of new genes associated with human diseases. The study confirmed links between three rare disorders and identified potential targets for treating other diseases.
A large Israeli pregnancy registry study found no association between first-trimester nonsteroidal anti-inflammatory drug (NSAID) use and major congenital malformations. The study analyzed over 264,000 pregnancies and found no increased risk of birth defects, even at higher doses.
Research in Canadian Medical Association Journal found that babies born to mothers with endometriosis are at a higher risk of congenital anomalies. The study included over 1.4 million births and found an increased risk of cardiovascular, gastrointestinal, genital, and musculoskeletal anomalies as well as neoplasms and tumours.
A large Nordic register-based study finds that high-dose folic acid supplementation before pregnancy reduces the risk of major congenital anomalies by 45% in women taking antiseizure medication. Starting folic acid after pregnancy onset has no protective effect.
Researchers discovered that 53% of newborns with myelomeningocele had sleep-disordered breathing, highlighting the need for routine screening and early intervention to prevent long-term complications. The study's findings suggest that addressing sleep disorders in high-risk infants could meaningfully improve their neurodevelopment.
A team of researchers from the University of Oldenburg has discovered a unique genetic pattern, or 'fingerprint', associated with NOTCH1 gene variants that commonly cause congenital heart defects. This breakthrough enables more reliable diagnoses and targeted therapies for patients and their families.
The ESE and ESPE have launched a landmark Joint Clinical Practice Guidance to support structured and effective transition of young people with endocrine conditions. The Guidance provides practical, evidence-based recommendations to ensure continuity, safety and quality of care during this critical phase in a patient's life.
A recent study found life expectancies for people with open spina bifida vary significantly by walking and feeding ability and bowel/bladder continence. Life expectancy decreases with age and is lower for males compared to females.
A new Texas A&M University study found that high doses of antioxidants can negatively influence sperm DNA and lead to craniofacial development differences in offspring. Men should exercise caution when consuming antioxidant supplements if they're planning to have children soon.
Researchers have developed a flexible, hair-like device that tracks vital signs of a fetus in real-time during surgery. This innovation provides continuous monitoring without invasive access, enabling faster interventions to prevent complications.
Researchers at UC San Francisco found that spindle fibers can repair themselves as they pull on DNA, ensuring accurate chromosome division. This self-repair mechanism replaces weak links with stronger ones, preventing errors that could lead to cancer or birth defects.
A new study found that hospitals with early ultrasound protocols detected 40% of major fetal anomalies before 16 weeks of pregnancy, compared to 28% in hospitals without such protocols. This suggests that systematic first trimester screening could improve the timeliness of anomaly detection across the population.
The Gabriella Miller Kids First Data Resource Center has released its 37th study on extracranial germ cell tumors, a rare group of childhood cancers. The dataset comprises information from 393 children and young adults, including inherited genetic data and tumor-specific changes.
Researchers used CRISPR technology to identify HMGN1, a nuclear binding protein that contributes to trisomy 21-related CHDs. The study found that an overabundance of HMGN1 leads to abnormal heart development and gene expression.
Researchers at Stowers Institute for Medical Research have identified the precise location where human chromosomes break and recombine to form Robertsonian chromosomes. The study reveals that repetitive DNA sequences play a central role in genome organization and evolution, explaining how these rearrangements form and remain stable.
A University of Minnesota Medical School research team has launched a groundbreaking study on infants born with congenital cytomegalovirus (cCMV). The five-year, $3.3 million grant will track the development of 200 infants over three years to better understand the virus's impact on long-term health and inform medical providers' clinica...
The Gabriella Miller Kids First Pediatric Research Program has released its 36th study, introducing significant new data updates to two existing studies. These advances aim to uncover the genetic foundations of childhood cancers and congenital conditions. With over 110,000 data files available, researchers can explore publicly accessib...
The study found that detection rates of congenital heart disease have improved due to advances in ultrasound screening practices, with added specific views helping detect more defects before birth. However, detection rates still vary by region and type of defect, highlighting the need for continued improvements in prenatal care.
Researchers are using nanodiamonds and VEGF to design treatments for Congenital Diaphragmatic Hernia (CDH), a devastating disease affecting 1 in 3,000 newborns. The treatment aims to stimulate lung growth before birth and improve survival rates.
A new study in the American Journal of Preventive Medicine found that two-thirds of women of reproductive age in the US have at least one modifiable risk factor for birth defects. The analysis highlights the need for improved preconception health and identifying and addressing these changeable risk factors before pregnancy.
A new study found that probiotics significantly reduced the presence of antibiotic-resistant bacteria and multidrug-resistant bacteria in the infant gut, while also promoting a more typical gut microbiome. This breakthrough has major implications for the global AMR crisis, particularly for preterm infants.
A survey of over 1,600 US adults found that most know the negative impacts of smoking and drinking during pregnancy, but uncertainty exists around vaccines and weight gain recommendations. The majority are unsure about recommended vaccines for pregnant individuals, with a notable drop in knowledge since last year.
A new study in mice found that fetal exposure to certain e-cigarette ingredients can alter skull shape, even without nicotine. The offspring of mothers exposed to these compounds weighed less and had narrowed facial features and shortened skulls compared to those not exposed.
Researchers discovered a previously unappreciated mechanism by which CMV infects cells lining blood vessels and contributes to vascular disease. The finding highlights a new potential avenue for developing antiviral drugs and suggests other herpes viruses could use similar molecular structures to evade immune detection.
A study by Nagoya University Graduate School of Medicine found that school-age children with CDH performed worse in all tests except gait analyses, with impairments in limb muscle strength and endurance. Regular physical activity can help improve motor abilities, quality of life, and overall health for these children.
Researchers at MIT have discovered that a genetic variant can lead to defects in transfer RNA molecules, causing embryonic face cells to fail to fuse properly. This study sheds light on the molecular mechanisms underlying cleft lip and cleft palate formation.
A new study suggests that menthol in electronic cigarettes may pose risks to a developing baby, inhibiting cell growth and increasing cell death. The researchers recommend discouraging the use of mentholated e-cigarettes during pregnancy until more research is conducted.
Researchers report a significant increase in congenital heart defects in states with restrictive abortion laws, exceeding pre-Dobbs trends. This trend is associated with higher healthcare utilization needs and potential non-financial strains on families.
A new study in the Circulation Journal reveals that babies born with heart defects may be at a higher risk of developing childhood cancer. Mothers of infants with congenital heart defects also show an increased cancer risk. The study highlights the importance of maternal factors and genetic traits in understanding this connection.
A recent study found that autophagy, a natural defense mechanism in cells, is less efficient in female eggs with moderate or severe DNA damage. Boosting autophagy can improve egg quality and reduce the risk of miscarriage and birth defects. The study's findings offer new directions for improving reproductive health.
Two comprehensive datasets from the Gabriella Miller Kids First Pediatric Research Program explore childhood cancers and congenital disorders. The new datasets aim to identify genetic causes and links between these diseases in children, ultimately supporting the development of improved treatments.
Researchers from The Mount Sinai Hospital analyzed an AI system to detect heart defects on fetal ultrasound exams, finding it significantly improved detection rates. The study aimed to improve prenatal detection of congenital heart defects, a leading cause of infant morbidity and mortality.
A new study suggests that AI can significantly improve a clinician's ability to detect cases suspicious for congenital heart defects, regardless of their experience or training. The AI system also increased confidence levels and reduced diagnosis time among clinicians.
According to UTHealth Houston research, adolescent and young adult men with cancer have a slightly elevated risk of having preterm birth and children with low birth weight. However, the likelihood of live birth was highest for fathers who had thyroid cancer and lowest for those with gastrointestinal cancer.
A new Australian study found that IVF pregnancies had the highest exposure to teratogenic medicines during the first trimester, compared to naturally conceived pregnancies. The risk was linked to medications used as additional treatment following ART to prevent repeat miscarriages or failed implantation.
The Zika virus hijacks the host protein ANKLE2 to assist its own reproduction, which is important for brain development. This interaction allows the virus to hide from the immune system and replicate more efficiently.
Researchers at POSTECH developed an innovative injectable adhesive hydrogel that regenerates bone using harmless visible light. The hydrogel addresses limitations of existing treatments by simultaneously achieving cross-linking and mineralization without separate bone grafts or adhesives.
Pregnant women with MS receiving disease-modifying therapies show increased risk of low birth weight and serious infections. Exposure to S1P modulators, natalizumab, and anti-CD20 antibodies is particularly concerning.
A team of experts has discovered that the ARID1A gene regulates a critical genetic program for cell migration, with ZIC2 identified as a crucial regulator in this process. This study expands our understanding of craniofacial development and provides valuable insights into the genetic causes of congenital diseases.
The University of Arizona researchers aim to gain a better understanding of factors contributing to the health and quality of life of people living with spina bifida. The project will collect data on patients of all ages, providing insights into gaps in care and unmet needs for individuals with spina bifida across the lifespan.
A nationwide effort to prevent necrotizing enterocolitis (NEC) in newborns has been launched with a $1.9 million Department of Health and Human Services grant. The grant will fund the distribution of an NEC prevention bundle, NEC-Zero, to help neonatal intensive care units recognize and prevent NEC.
A new study reveals high levels of airborne plasticizers in Southern California, including phthalates known to cause reproductive harm and cancer. The study uses silicone wristbands to track exposure to these chemicals, finding that daily levels are both high and persistent.
Research found that babies conceived through assisted reproductive technology have a 36% higher risk of major heart defects compared to naturally conceived babies. The study also showed that multiple births are associated with an even greater risk of congenital heart defects.
A case-control study found an association between abnormal birth metabolic analytes and sudden infant death syndrome, suggesting potential early risk identification. The study's findings could inform future research and clinical efforts focused on monitoring and preventing SIDS.
A recent study uses CNV-seq and WES to detect congenital heart disease, identifying genes contributing to CHD and increasing diagnostic yield. The combination of these technologies boosts detection rates for CHDs, improving prenatal management.
Research reveals that maternal prenatal smoking can limit a child's academic performance and put them behind their peers at school. The systematic review of 19 studies and 1.25 million participants found that 79% of studies reported reduced academic achievement in children exposed to maternal prenatal smoking.
Researchers have designed a shunt that can expand when activated by light, potentially reducing the number of open-chest surgeries needed to accommodate growing children. In lab experiments, they found the shunt could be expanded incrementally, with adjustments customizable to each child.
A new $13 million project launched by the American Heart Association and Additional Ventures aims to study the biological mechanisms of single ventricle heart disease. The five-year initiative will bring together teams of scientists to expand understanding of underlying biological mechanisms and science related to clinical complications.
A major new study by Karolinska Institutet has found that women with epilepsy are four times more likely to die during pregnancy and their babies have a 50 percent higher risk of illness or death. Despite the high relative risks, most pregnancies for women with epilepsy go well.
A recent study investigated COVID-19 vaccine exposure in the first trimester and its potential impact on major structural birth defects. The results indicate that mRNA COVID-19 vaccine exposure during this period is not associated with an increased risk for selected birth defects among live births.
A study of almost 400,000 live births found that paternal use of metformin monotherapy was not significantly associated with major congenital malformations. However, researchers noted that fathers prescribed metformin had higher rates of cardiovascular and metabolic conditions, which could affect reproductive health.
A novel approach for corneal tattooing has been developed using multi-lamellar polychromatic keratopigmentation, offering customized appearance and increased safety. The procedure achieved an average cosmetic improvement rating of 4.2 and patient satisfaction ratings of 9.2 out of 10.
Research at the University of Zurich reveals that the first week after birth is a critical period for the development of senses, particularly smell and touch. Olfactory stimuli can induce neural activity across multiple brain regions, including areas responsible for non-olfactory sensory processing.
Researchers evaluated anemia cases using stringent clinical and laboratory criteria, identifying rare congenital sideroblastic anemias and nonsideroblastic iron defects with pathogenic gene mutations. This study highlights the importance of active screening and awareness for these conditions in the Indian subcontinent.
Researchers used supercomputers to study how fruit fly embryo cells develop into wings, offering a window into human development and possible treatments for birth defects. The team found that actomyosin drives much of the development process, particularly in the lower wing disc flattening.
Researchers at UC Riverside identify NMD pathway as crucial for early brain development and preventing microcephaly. The study links NMD regulation of brain size control to the tumor suppressor gene p53, suggesting potential new connections between NMD and cancer.
A new study from Israel found that nearly 1 in 5 adults with congenital heart disease developed an abnormal heart rhythm during a five-year study. Those who developed arrhythmias had twice the risk of early death and increased hospitalization rates compared to those without irregular heart rhythms.