Articles tagged with Birth Defects
Congenital heart disease specialists have developed a nonsurgical technique to repair patent ductus arteriosus, a common cardiac birth defect. The minimally invasive procedure employs fluoroscopy and echocardiography to guide closure without exposing fragile infants to open-heart surgery.
Researchers have ruled out the 'Production-Line Hypothesis', which suggested that faulty chromosomes are more common in eggs produced later in a woman's reproductive life. The study found no relationship between a woman's age and chromosome crossovers, suggesting other factors may be involved.
A new genetic cause has been identified for two common male reproductive birth defects: cryptorchidism and hypospadias. The VAMP7 gene duplication was found to be the underlying cause of these defects in nearly 1.35% of patients, with no similar association observed in control subjects.
A French study found a small link between HIV drug use during pregnancy and an increased risk of heart defects in children. However, the benefits of antiretroviral therapy in preventing mother-to-child transmission of HIV outweigh the risks.
A research team, including Anthony Wynshaw-Boris and Shinya Yamanaka, successfully used induced pluripotent stem cell reprogramming to correct a defective ring chromosome with a normal one. This approach has potential to treat birth defects, mental disabilities, and growth limitations caused by chromosomal abnormalities.
A new hormone therapy has been shown to improve the integration of bone grafts used in head and facial reconstruction surgeries. The treatment, which uses parathyroid hormone, enhances bone formation around the grafts and prevents scar tissue from forming, leading to better outcomes for patients.
Gary M. Shaw receives Agnes Higgins Award for his research on human birth defects, highlighting the link between prenatal nutrition and increased risk of birth defects. The award recognizes Dr. Shaw's efforts to improve maternal nutrition and baby health.
Researchers at New York University identified a checkpoint that is necessary for a genome's viability and normal development during meiosis. Without this restraining mechanism, chromosomes can become irreversibly broken, leading to birth defects such as Down syndrome.
A multistate study found that children born with non-chromosomal birth defects have a twofold higher risk of cancer before age 15 compared to children without birth defects. Cancer risk varies by the specific type of birth defect, with increased risk observed in eye defects, cleft palate, heart and kidney defects, and microcephaly.
Researchers found that being born to an older mother or parents who are blood relations increases the likelihood of a baby being born with a birth defect. Maternal education level also plays a significant role in reducing the risk of birth defects across all ethnic groups.
A recent study found that both cousin marriage and older mothers have a significantly increased risk of birth defects, with nearly 31% of birth defects in babies of Pakistani origin attributed to consanguineous marriages. The study also showed that maternal education can be protective against congenital anomalies.
Dr. Eric N. Olson has discovered pivotal genes and regulatory pathways governing the development, disease, and regeneration of the heart and other muscles. His research offers hope for prevention and treatments for some of the most serious birth defects.
Researchers found higher stillbirth rates among Inuit and First Nations women in Quebec, particularly at term, with rates 2 times those of non-Aboriginal populations. The study suggests that reducing smoking and managing weight may help prevent stillbirths.
Researchers at USC have identified two molecular signaling pathways that control the formation of head and face structures, shedding light on certain birth defects. The study used time-lapse photography to study organ development at the single-cell level in zebrafish embryos, providing insights into human health and disease.
New research suggests that in vitro fertilization (IVF) is associated with a higher risk of birth defects, including those of the eye, heart, reproductive organs, and urinary systems. The study found that IVF infants were 1.25 times more likely to experience birth defects compared to naturally conceived infants.
Researchers link common herbicide atrazine to increased risk of choanal atresia, a congenital abnormality affecting breathing. Mothers living in Texas counties with high atrazine application levels are 80% more likely to have children with the condition.
A new study by WSU geneticist Patricia Hunt and colleagues reveals BPA can damage chromosomes, disrupt egg development, and increase the risk of miscarriages and birth defects in rhesus monkeys. The research bolsters earlier findings on reproductive effects in rodents and raises concerns about human exposure to this common chemical.
Researchers found a cellular cause of birth defects like cleft palates and missing teeth by blocking an ion channel that disrupts protein signaling pathways. This discovery may lead to the prevention of birth defects and has potential implications for cancer treatment.
Researchers discovered a 'switch' called MOZ that modifies the Tbx1 gene, essential for normal heart development, to explain variations in DiGeorge syndrome severity. The study found that MOZ activity can be influenced by environmental factors, such as diet, particularly vitamin A, which can exacerbate birth defects.
Researchers have developed a new imaging technique that can detect subtle changes in fetal brain structure and facial features associated with prenatal alcohol exposure. The study's findings suggest that the timing of maternal alcohol use during pregnancy can influence the severity and type of birth defects, expanding the scope for dia...
Research published in Occupational and Environmental Medicine found that certain jobs carried out by fathers may be linked to an increased risk of birth defects in their babies. Jobs such as mathematicians, physicists, and computer scientists, as well as artists and photographers, were associated with a higher risk of birth defects.
Two studies found that infants exposed to the H1N1 vaccine in utero did not have a significantly increased risk of major birth defects, preterm birth, or fetal growth restriction. However, adults exposed to the vaccine were at a small increased risk of Guillain-Barre syndrome during the 4-8 weeks after vaccination.
Researchers at Mount Sinai School of Medicine have found a potential treatment for craniosynostosis and acanthosis nigricans, two birth defects associated with Beare-Stevenson cutis gyrata syndrome. Inhibiting the protein p38 improved skull and skin defect outcomes in mouse models.
A University of Adelaide study found a significant association between assisted reproduction and major birth defects, with IVF and ICSI carrying higher risks. The study also identified cryopreservation as a protective factor, while clomiphene citrate use outside of supervised clinical settings tripled the risk of birth defects.
A study published in Experimental Biology and Medicine revealed that PRDM16 is essential for the normal development of the embryonic palate. The gene was found to regulate over 100 genes involved in diverse processes such as chromatin remodeling and muscle/bone development.
A major new study published in The Lancet found that all babies should be offered screening for heart defects at birth, with pulse oximetry showing high accuracy and effectiveness in detecting the condition. The research included data on close to 230,000 babies and showed that pulse oximetry picked up over three-quarters of heart defects.
Researchers at Tufts University have identified a self-correcting mechanism by which developing organisms recognize and repair head and facial abnormalities. This process allows craniofacial structures to move and remodel themselves to compensate for defects, restoring normal shape and position.
The March of Dimes Foundation has awarded UTMB assistant professor Muge Kuyumcu-Martinez a two-year $150,000 grant to support her research on congenital heart defects. The award will enable her to study the protein kinase C pathway and its interactions with genes using cell-culture and transgenic mouse experiments.
Researchers at USC have discovered an abnormal amount of Transforming Growth Factor Beta (TGF-β) outside cells, which may indicate Loeys-Dietz syndrome. This finding could enable rapid diagnosis and treatment of the life-threatening birth defect.
Infants with birth defects delivered at night or over the weekend fared just as well as those delivered on a weekday, according to a new study. The finding is good news for all parties and suggests that delivery timing shouldn't be based on day of the week.
A large retrospective study of childhood cancer survivors found no increased risk of birth defects in their children. Researchers examined data from over 20,000 survivors and found that exposure to chemotherapy and radiation did not lead to genetic birth defects.
A comprehensive review of 173,687 cases found maternal smoking causes a range of serious birth defects. Smoking during pregnancy also increases the risk of premature birth and related health problems.
A comprehensive review of 172 research papers found a significant association between smoking during pregnancy and an increased risk of birth defects. Missing or deformed limbs, clubfoot, facial disorders, and gastrointestinal problems were among the most common malformations linked to maternal smoking.
A recent study by Professor Michael Davies reveals that the 'vanishing twin' phenomenon is associated with a nearly two-fold increased risk of any congenital malformation and nearly three-fold risk of multiple malformations in surviving babies. The research also found that early pregnancy loss, including loss before six weeks, is linke...
Researchers found a nearly two-fold increased risk of congenital malformation in surviving babies and a threefold increase in multiple birth defects. Early loss of a co-twin was linked to the risk of birth defects in the surviving twin.
A Washington State University study found significantly more birth defects in areas of mountaintop coal mining, with nearly twice the rate of non-mining areas. The research also controlled for socioeconomic and behavioral risks, confirming a link between mountaintop mining and higher birth defect rates.
A new study reveals that four common epilepsy medications associated with a dose-dependent increased risk of major birth defects. The research suggests that doctors should select the safest effective treatment for pregnant women with epilepsy by considering individual drug and dose options.
A large Danish study found no significant association between prenatal use of newer-generation antiepileptic drugs and major birth defects. The study included data on over 837,000 infants and compared their birth defect rates with those exposed to older-generation antiepileptic drugs.
Researchers at King's College London have identified the genetic cause of Adams-Oliver Syndrome, a rare condition that can lead to birth defects. The study found mutations in the ARHGAP31 gene, which regulates proteins involved in cell division and growth, potentially leading to disruptions in limb formation.
Two scientists, Patricia Ann Jacobs and David C. Page, received the 2011 March of Dimes Prize in Developmental Biology for their research on the X and Y chromosomes, expanding medicine's ability to diagnose and understand infertility and other diseases.
New research reveals that thalidomide's toxic effects on embryos result from its breakdown products producing reactive oxygen species, causing DNA damage and birth defects. The study uses a rabbit embryo culture model to demonstrate the link between thalidomide and its hydrolysis products.
A study published in Pediatrics found that pregnant non-smokers exposed to second-hand smoke have a higher risk of delivering stillborn babies or babies with congenital birth defects. Passive smoking increased the risk of stillbirth by nearly one-quarter and was linked to a 13% increased risk of congenital birth defects.
A recent study found no evidence of increased birth defect risk from proton-pump inhibitors taken during pregnancy, but an epidemiologist believes further studies are needed. The study's limitations highlight the need for more research into specific PPIs and their effects on fetal development.
Researchers have developed a new type of heart pump to improve the survival rate for infants undergoing surgeries to correct univentricular circulation. The innovative 'viscous impeller pump' can be inserted through a catheter and expands to form two cones, spinning at 10,000 rpm to efficiently pump blood.
A study of over 837,000 births in Denmark found no association between exposure to certain antiviral drugs and major birth defects. The findings suggest that acyclovir is safe for use in early pregnancy, while further research is needed on the safety of valacyclovir and famciclovir.
Researchers found that folate supplementation prevented heart valve defects and restored heart function in mouse embryos exposed to alcohol. High doses of folate were necessary to protect against defects, contradicting current dietary recommendations.
Researchers highlight underdiagnosis of pediatric hepatitis C, increased risk of inflammatory bowel disease from antibiotic use in infancy. Gastroenterologists must consider unique health needs of women and children when prescribing medication.
Dr. Shinya Yamanaka's pioneering work on induced pluripotent stem cells eliminates need for embryonic stem cell harvesting from human embryos. The discovery has the potential to correct or repair birth defects in children, offering hope for preventions and treatments.
A study by researchers at the University of Washington has demonstrated a link between gastroschisis, a congenital abdominal wall defect, and exposure to atrazine, an agricultural chemical. The risk of gastroschisis increased for women who conceived in the spring and resided near areas with high surface water contamination.
Researchers at the University of Pittsburgh are leading a $9 million, five-year initiative to study the cause of facial birth defects. They will create an encyclopedic database of how faces develop and what goes wrong to cause malformations.
A study examined associations between antibiotic use during pregnancy and birth defects, finding that certain antibiotics like sulfonamides and nitrofurantoins may be associated with severe birth defects. Many commonly used antibiotics, such as penicillins and cephalosporins, were not linked to an increased risk of birth defects.
Research published in the UK-based urology journal BJUI found that women exposed to DDT spraying were more likely to have sons with urogenital birth defects, which can cause missing testicles or problems with their urethra or penis. The study suggests that prolonged exposure to DDT may increase the risk of these defects.
A study suggests that exposure to a combination of stress hormones and chemicals during fetal development can increase the likelihood of reproductive birth defects, including cryptorchidism and hypospadias. The research found that simultaneous exposure to these factors significantly increased the risk of such disorders.
A groundbreaking study published in the Journal of Cell Biology reveals that the protein Pds5 plays a vital regulatory role during meiosis, failing to segregate and pair up properly when it is absent. This finding has significant implications for understanding human chromosomal birth defects, including Down syndrome.
The Pew Charitable Trusts has named 17 early-career scientists as Pew Scholars in the Biomedical Sciences, providing $240,000 over four years to fund their research on cancer, Parkinson's disease, birth defects, and epilepsy. The program has invested over $125 million in 460 scholars since its inception.
A mouse model study reveals that a mutated Hoxd13 protein directly induces extra digits and indirectly promotes cartilage formation, leading to syndpolydactyly. Intrauterine treatment with retinoic acid restores normal digit formation.
A multidisciplinary research team discovers that the absence of the ERK2 gene is linked to birth defects affecting heart and head development. The study reveals a critical conserved role for ERK2 signaling in neural crest development, shedding light on how developmental errors occur.
Researchers at the University of Illinois College of Medicine discovered a novel enzyme linked to anencephaly, a rare fatal birth defect. The study suggests that a genetic test may be developed to diagnose the condition early in pregnancy.
A study found that taking topiramate alone or with other epilepsy drugs during pregnancy increases the risk of birth defects, particularly cleft palates and genital birth defects. The study suggests monitoring pregnancies of women exposed to topiramate.
A study published in Environmental Health found that drinking tap water disinfected by chlorine while pregnant may increase the risk of certain birth defects. Exposure to high levels of chlorination by-products was associated with a significant increased risk of ventricular septal defects, cleft palate, and anencephalus.