Active clinical trials for "Congenital Abnormalities"

In France, according to current legislation, termination of pregnancy could be performed without any upper gestational age limit, if there is a strong probability that the fetus will be affected by a particularly severe and incurable disease. When there is a lethal fetal diagnosis most of parents wish to terminate their pregnancy. However, and despite some medical resistance a few of them do wish to continue pregnancy. In these situations, palliative care seems to be a good way to prepare to welcome the child and surround him until death. The aim of the study is to describe parents' experience for a better understanding and a better care.

In China, birth defects can reach as high as 5.6%, about 900,000 new cases of birth defects are added each year, making it the second cause of death for infants, with a total death rate of 19.1%. At present, China implements the three-level prevention and control system for birth defects, which is performed before marriage, before birth, and during the neonatal period. Newborn screening is the last line of defense against birth defects. Early screening diagnosis and timely intervention are extremely important, especially for diseases which can be preventive and treatable. This study aims to evaluate the clinical application of high-throughput targeting sequencing in newborns, and investigate whether this new technology can significantly shorten the time of examination, improve the diagnosis rate, guide the intervention treatments and promote prognosis for these disease.

This is the first study with a real diagnostic and prognostic focus in prenatal. In addition to this innovative aspect, the identification of cryptic imbalances in fetuses with malformative syndrome would be an invaluable resource for the identification of new genes involved in development, as is already the case for postnatal studies. This research aims to: to test the feasibility of this protocol, ie the practical application of this new technology in the context of prenatal diagnosis, demonstrate and evaluate the possible involvement of cryptic chromosomal abnormalities in fetuses with a thick neck associated with other malformations and recruited on the strict criteria mentioned above, assist in the diagnosis of these fetuses and genetic information for their families, identify new regions of the genome potentially involved in the occurrence of congenital malformations.

The aims of this study are: To examine the inter-rater reliability to assess myofascial trigger points using a myotonometer To determinate the strength of the correlation between myotonometric parameters and isokinetic parameters To evaluate the sensitivity of myotonometric measurements to detect the location of myofascial trigger points

This study is a multi-centre, international, prospective cohort study of congenital anomalies to compare outcomes between LMICs and high-income countries (HICs) globally.

CT signs that are evocative of lung COVID-19 infections have been extensively described, whereas 18F-FDG-PET signs have not. Our current study aimed to identify specific COVID-19 18F-FDG-PET signs in patients that were (i) suspected to have a lung infection based on 18F-FDG-PET/CT recorded during the COVID-19 outbreak and (ii) whose COVID-19 diagnosis was definitely established or excluded by appropriate viral testing.

Italian registry of coronary artery abnormalities diagnosed utilizing cardiac magnetic resonance imaging.

Objective : Anorectal malformations (ARMs) are part of a spectrum of malformations due to an abnormal separation between the urogenital and digestive tracts during embryonic life. The prevalence of ARM is 1/2000 - 1/5000 live births, making it a relatively common malformation. The impact of an ARM depends mainly on the type of malformation, which can be difficult to evaluate in the antenatal period, and whether it is isolated or associated (50-80%) with other malformations or genetic syndromes. Only 1 to 16% of ARMs are diagnosed in the antenatal period. The objective of this study is to compare cases of prenatal diagnosis of ARM, cases of postnatal diagnosis of ARM with other antenatal ultrasound abnormalities, and those with normal antenatal ultrasound, in terms of management and functional prognosis, to identify ways to improve prenatal counseling. Materials and methods : In this retrospective monocentric study, the investigators have included all fetuses and newborns born between January 2010 and September 2020 with anorectal malformations, diagnosed from postnatal radiological examinations and surgical or autopsy reports at the University Hospital of Montpellier. The Krickenbeck classification was used to classify the ARMs and to assess the functional prognosis.

A total of 620 children will be enrolled in this study from six sites in sub-Saharan Africa, South Asia, and Latin America. Half of the children's mothers will have taken aspirin and half will have taken placebo. This will allow the researchers to compare results of the two groups of children and determine if children exposed antenatally to low dose aspirin will have scores on the Bayley Scales of Infant Development-III (BSID-III) examination at 36 months of life (+/-3months) that are not inferior to the child's peers who were not exposed (i.e., by no more than a margin of 4 points).

The aim of this study was to develop a Spanish version of the Orthognathic Quality of Life Questionnaire (OQLQ) that is conceptually equivalent to the original questionnaire, as well as acceptable, reliable, valid, and responsive for use in Chilean patients with dentofacial deformities.The cross cultural adaptation process was carried out according to the recommended standard methodology with direct and back-translation.