View clinical trials related to Birth Defects.
Filter by:Using data from a population-based medicine use cohort in Xiamen, China, this retrospective cohort study will investigate whether herbal medicines used to prevent miscarriage are associated with increased risk of birth defects.
This study aims to transform the current clinical practice paradigm by leveraging an internally designed web-based model of delivery of care called Consultagene to provide remote evaluation and genomic sequencing for improving genetic health of less resourced children with rare disorders living along the Texas-Mexico border.
The Environmental Factors and Embryonic Development Project was set up to investigate environmental exposures and behavioral factors responsible for embryonic dysplasia and gestational complications in pregnant women.
This project is a single blind cluster randomized controlled trial with a purpose of assessing the effectiveness of a comprehensive tertiary interventions (before pregnancy, during pregnancy and after delivery) on the incidence and the clinical outcomes of birth defects in a preparing-for-pregancy population in Shanghai. The preconception intervention is focused on identifying individuals whose red blood cell folate level is below recommended level for preventing neural tube defects (400ng/ml) or with elevated homocysteine level (over th 80th percentiles, 6.8 µmol/L) , and modifying their folate deficiency status to normal before pregnancy.
The Ma'anshan Birth Cohort (MABC) is a population-based prospective pregnancy and birth cohort study that aims to explore the early environmental and genetic determinants of maternal and child health, with a focus on health outcomes including maternal health, children's cognitive and behavioral development, growth and physical development, video-screen behaviors, and asthma and allergic diseases. MABC was officially launched in May 2013 at the Ma'anshan Maternal and Child Health Hospital in Anhui Province, and a total of 3,474 families were recruited as of September 2014 to continuously track the health status of mother-child pairs during pregnancy, delivery, and childhood, including basic family demographics, maternal pregnancy and birth history and past history, history of exposure to hazardous factors during pregnancy, children's diets and lifestyles, and children's physical and cognitive-behavioral development, MABC quantifies the attributional relationship between environmental chemicals, diet and nutrition, drug safety, psychological stress, lifestyle, biorhythm, endocrine metabolism and adverse birth outcomes, birth defects, neurodevelopmental disorders, developmental disabilities, etc., and identifies environmental, behavioral and genetic causative factors for birth defects and common developmental disorders, and identifies early warning signs and symptoms for early detection of birth defects. genetic causative factors, identify clinical biomarkers with early predictive effects, integrate and form a precise risk evaluation and early warning model, carry out regional comprehensive prevention and treatment applications, and promote the improvement of the quality of the birth population. Currently, MABC is conducting its 20th school-age follow-up visit.
The China-Anhui Birth Cohort Study (C-ABCS) was set up to examine the delayed, cumulative and interactive effects of maternal environmental exposures on birth outcomes and children's development. The C-ABCS recruited pregnant women from six major cities of Anhui province, China, between November 2008 and October 2010. A range of data (including demographic, obstetric, occupational, nutritional and psychosocial factors) were collected by both interviews and laboratory tests. In each trimester, women's blood samples were drawn, and pregnancy complications were abstracted from physician's medical records. By the end of 2011, birth outcomes/birth defects were observed/identified by clinicians within 12 months after the delivery of 11 421 singleton live births of six cities and those outcomes among the remaining 2033 live births are still being observed. In addition, 4668 children from Ma'anshan city will be further followed up during the pre-school period till they reach adolescence to obtain the data on familial environmental exposures as well as children's physical, psychological, behavioural and sexual development. The interview data and information on laboratory examinations are available on request from archives in the Anhui Provincial Key Laboratory of Population Health & Aristogenics.
Background: - Moebius syndrome limits the ability to make facial expressions like smile, frown or blink - and move the eyes laterally. It can also cause speech, swallowing or breathing difficulties and affect parts of the body, such as the limbs, jaw, muscles, or the heart. Some individuals with Moebius can have intellectual impairment or behavior problems. Researchers want to study the clinical features of individuals with Moebius or related disorders and explore the genetic and/or environmental causes of these conditions. Objective: - To learn more about the genetics and clinical characteristics of Moebius syndrome and other Congenital Facial Weakness disorders. Eligibility: - People ages 2 to 80 years with congenital facial weakness, isolated or combined with other congenital anomalies, and their family members. Design: - Participants with Moebius syndrome or other congenital facial weakness disorder will be evaluated at the NIH Clinical Research Center over 3 to 5 days and undergo the following procedures: - Medical and family history and physical examination, including body measurements and vital signs. - Blood or saliva will be collected for genetic tests and to evaluate liver, kidney, heart and hormonal functions. - Eye examination, including having a video taken of their eyes moving. - Hearing evaluation. - Speech and language assessment, including swallowing studies. - Dental exam. - Detailed neurological evaluation, including electromyogram/nerve conduction and blink reflex study. - Rehabilitation medicine evaluation, including muscle and tongue strength testing and assessment of balance. - Neurocognitive and behavioral testing and questionnaires to assess quality of life and copying mechanisms. - Imaging studies of their head, by magnetic resonance and diffusion tensor imaging -MRI/DTI. Participants will lie on a table that slides into a metal cylinder that takes images of internal body structures using magnets. Child participants may be sedated. - Some adults may have additional X-rays of their head or limbs, if there are abnormal findings. - Medical photographs of the face and affected body parts may be taken. - Other specialized tests or consultations, as indicated. - Participants can choose to have a skin biopsy taken. - A follow-up visit will be offered to participants for review of genetic test findings and possibly additional clinical tests, as indicated. Family members of the patients will have a medical and family history and physical examination. Blood or saliva will be obtained for genetic studies.
Background: - Congenital malformations, sometimes called birth defects, occur because of a difference in early human development. There are many different types of congenital malformations, and some of these can be caused by changes in genetic material. Researchers are interested in studying individuals with these congenital malformations to better understand the causes and the effects of certain congenital malformations. Objectives: - To understand more about what causes congenital malformations that arise in early human development. - To learn if genetic causes can be found to explain why a person has a congenital malformation. Eligibility: - Individuals who have been diagnosed with a congenital malformation. Design: - Participants will be seen at the National Institutes of Health for a series of visits over 3 to 4 days. Participants will be asked to provide copies of past medical records and test results for review, and will be asked questions about pregnancy/prenatal history, birth, newborn, medical, developmental, and family history. - Parents or siblings of participants may also be asked to provide information for research purposes. - Participants may have additional medical evaluations as part of this study, including any of the following tests: - Physical examinations - Other consultations as clinically indicated - Blood samples for genetic testing - Tissue biopsy for genetic testing - Photographs of affected areas, such as front and side views of the face and other body parts that may be involved in a congenital malformation, like the hands and feet. - Other tests as indicated by a specific malformation, such as organ ultrasounds. - No additional invasive testing, testing requiring sedation, or testing involving radiation is planned for this protocol. These tests, if performed, would involve a separate consent....
This study is investigating the neurodevelopmental effects of prenatal exposure to lamotrigine (LTG), sodium valproate (VPA), or carbamazepine (CBZ) monotherapies. The hypotheses to be tested include: 1. Exposure during pregnancy to CBZ, LTG, and VPA, each as monotherapy, is associated with developmental delay with or without signs of autism. 2. Exposure to each drug (CBZ, LTG, and VPA) as monotherapy is associated with an increased rate of occurrence of major malformations. 3. The child with major malformations is more likely to have developmental delay with or without signs of autism than the child who does not have major malformations. 4. The occurrence of adaptive behavior outcomes will show a dose-response relationship with the dose of medication taken by the mother in the first trimester. The study population includes children 36-83 months of age who were exposed throughout gestation to one of the three drugs of interest, as treatment for maternal seizure disorder.
This study will explore the medical problems in patients with VACTERL association and identify gene changes that might be responsible for them. VACTERL association can affect many parts of the body, including the bones of the spine, the heart, the lower intestinal tract, the connection between the trachea and esophagus, the kidneys and the arms. Information from this study may lead to a better understanding of the disease and improved treatment and genetic counseling. Patients with VACTERL association and their parents and siblings may be eligible for this study. Patients are admitted to the NIH Clinical Center for evaluation over 3 to 4 days that may include the following procedures: - Physical examination, medical history, electrocardiogram (EKG), blood and urine tests - Eye examination - Imaging studies (echocardiogram, x-rays and ultrasound tests) - Other specialized tests or consultations as indicated - Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes - Optional return visit after 2 years for repeat testing and to look for changes over time Parents of patients have the following procedures: - Physical examination, medical history, blood tests and x-rays, if needed - Specialty consultations as indicated - Optional medical photographs of the face and other body parts that may be involved in VACTERL association for publication in scientific texts or for teaching purposes - Questionnaires about their child s medical history, growth, behavior and development, therapy and medication Siblings of patients have the following procedures: - Physical examination, medical history and blood tests