Active clinical trials for "Congenital Abnormalities"

The objectives of the clinical study are to demonstrate the accuracy of our new NATUS diagnostic method to determine the genetic health of the developing fetuses in a multiple gestation pregnancy from a maternal blood sample. The long term goal of this study will be the development of a method of minimally invasive prenatal diagnosis that has a higher sensitivity and lower false positive rate in the intended population (e.g. multiple gestation pregnancies) than any currently available screening tests. This will result in fewer unnecessary amniocenteses and CVS procedures, which are associated with a risk of miscarriage.

When compared to existing analyses: manometry, Smart Pill and lactulose breath testing, external Acoustic Esophago-Gastro-Intestinal Surveillance (AEGIS) may identify unique audible patterns characteristic of features of gastroinestinal (GI) motility, gastric and small bowel contractions and emptying and small intestinal bacterial overgrowth (SIBO). This research study is designed to test the capabilities of AbStats/AEGIS to identify and associate symptoms and traditional diagnostics with sound readings and correlate this data with treatment outcomes and successes in standard of care.

To describe the knowledge, expectations, and perception of women towards the mid-trimester ultrasound scan to detect fetal anomalies in a Mexican population.

Brain stem and posterior fossa measurements in spina bifida aperta fetuses to compare them with normal population. Additionally, Describe the difference between pre- and postoperative findings.

Cystic Fibrosis related diabetes (CFRD), a major factor of morbid-mortality in CF, is characterized by a preclinical phase of glucose intolerance particularly long reaching up to 10 years. At the physiopathology level, insulin secretion is determinant in the glucose tolerance abnormalities in CF. Indeed insulin secretion is dependent of the CFTR activity at the beta cell surface and inhibition of CFTR leads to a decrease in insulin secretion. Recently, the combination of the lumacaftor, a CFTR corrector, with Ivacaftor, a CFTR potentiator, was studied in patient with CF homozygous for the Phe508 del CFTR mutation patients and showed an improvement of the respiratory state in comparison with the placebo group. These data suggests that lumacaftor in combination with ivacaftor in targeting CFTR action may have an early impact on the insulin-secretion and consequently on the glucose tolerance.

Congenital pulmonary malformation in children is a rare abnormality mostly diagnosed before birth during antenatal ultrasound examinations. These lesions may expand to form lung cysts in children, cause recurrent lung infections and has a potential for malignant change. Therefore, surgical removal in childhood is favoured as the treatment of choice. The surgical correction may involve 'open' surgery or 'key hole' surgery. There is, however, a variation in surgical and anaesthetic techniques and timing of this surgery and subsequent complications reported post-surgery. The purpose of this investigation is to review anaesthetic and surgical case notes and the subsequent well-being of all children who underwent lung surgery to remove above lung lesions over the last 10 years (2008-2017) at a regional centre. The aim is to look at the current status of these children in relation to their health, growth and development evaluated via a 20-minute structured telephone interview with prior consent.

The aim of this retrospective study is to analyze the third molar agenesis with respect to sella turcica bridging and other craniofacial patterns in patients asking for orthodontic consultation. The main question[s] it aims to answer are: is there a relationship between third molar agenesis and sella turchina bridging? is there a relationship between third molar agenesis and craniofacial patterns?

The aim of this study is to clarify complications of Ethanolamine Oleate intralesional injections of maxillofacial venous formations in pediatric patients

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.

International Observational E-Registry on the use of DILAPAN-S® osmotic dilator / DILASOFT® osmotic dilator for cervical ripening prior to labour induction.