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Showing 1-6 of 6 trials
NCT07606989
The goal of this observational study is to learn if whole-genome sequencing (WGS) can help find the genetic cause in fetuses with structural abnormalities that remain unexplained after standard genetic testing (such as karyotyping, chromosomal microarray, or whole-exome sequencing). It will also learn how WGS results may affect pregnancy management and family decision-making. The main questions it aims to answer are: How often does WGS identify a genetic cause in these fetuses? Does WGS find more genetic causes compared to standard genetic tests? Can combining WGS with other molecular analyses help discover new disease genes or pathways? Researchers will compare WGS results to results from standard genetic tests to see if WGS finds more genetic causes. Participants are pregnant women whose fetuses have structural abnormalities seen on ultrasound or MRI, with negative results from routine genetic testing. Participants will: Undergo an invasive procedure (such as amniocentesis) or provide postnatal samples as part of their regular medical care Allow the use of leftover samples for WGS and additional molecular studies Be followed until after delivery to collect information on pregnancy outcomes and neonatal health
NCT06081036
Fetal brain MRI is an essential diagnostic tool to inform parents about the prognosis of abnormalities detected on routine ultrasound. Recent work has shown that brain MRI measurements at the antenatal stage are predictive of the child's postnatal development. However, this work remains limited to basic research, in part because of the lack of normative curves of brain tissue volume evolution from fetal MRI acquired in clinical routine. This project aims to fill this gap. For this purpose, the project will exploit fetal MRI scans acquired in 4 French hospitals (Marseille, Nice, Montpellier and Paris): MRI scans without abnormalities will be centralized for analysis, and families who have undergone these scans will be contacted to evaluate the development of their children after birth. Normative curves will be established by applying a set of treatments developed by the laboratory in Marseille collaborating in the project. Ultimately, these curves will help to clarify the diagnosis of fetuses by providing a quantitative characterization of the normality of brain measurements.
NCT04285814
Amniocentesis (amnio) and chorionic villus sampling (CVS) can reliably detect many smaller DNA/genetic abnormalities that cannot be reliably diagnosed by cell-free noninvasive prenatal testing (NIPT) that is in widespread use. The investigators present evidence that a cell-based form of NIPT, here called Single Fetal Cell (SFC) testing, using a blood sample from the mother can detect most or all of the genetic abnormalities that are detected using amnio or CVS. This study proposes to compare the effectiveness of SFC testing in detecting abnormalities already detected by amnio or CVS in women already undergoing these tests as part of their clinical care because of fetal ultrasound abnormalities.
NCT06687252
Variations in genital development (VDG) account for 0.5% to 1% of births. Advances in ultrasound techniques, as well as in prenatal diagnosis techniques, particularly in genetics, have led to improvements in the prenatal diagnosis of these pathologies. However, to date, there is no consensus on etiological research and standardized management of these patients and their families, once VDG has been detected. The value of multidisciplinary management has already been demonstrated, but a number of grey areas remain: the frequency of false-positive ultrasound findings, the place of invasive antenatal diagnostic tests, the role left to parents during the diagnostic process, the frequency of associated malformations discovered post-natally, and how to prepare for immediate management at birth. The aim of this study is to improve the management of patients and their families as soon as a Disorders of Sexual Development is detected antenatally. The primary objective is to describe the management, particularly complementary investigations performed in the antenatal management of ultrasound diagnoses of Disorders of Sexual Development over the last 10 years. The secondary objectives are : * To determine the correlation between pre- and post-natal morphological phenotype and the proportion of false positives in antenatal ultrasound diagnosis. * To characterize prenatally diagnosed Disorders of Sexual Development * To determine the proportion of isolated prenatally-diagnosed Disorders of Sexual Development that turn out not to be isolated during postnatal follow-up. * The evaluation of the care pathway : * To establish the frequency of prenatal psychological support for parents * To establish the role of parents in prenatal diagnosis strategy decisions at our center
NCT05940363
To investigate and evaluate the capacity of prenatal screening, diagnosis and counseling of congenital heart disease in medical institutions in China, in order to understand the current status and existing problems of prenatal prevention and treatment capacity of congenital heart disease in China, and to obtain corresponding baseline data, so as to provide scientific basis for further improving prenatal screening and diagnosis policies in China.
NCT05638490
The study intends to establish a closed-loop management from prenatal to postnatal through prospective cohort, and comprehensively utilize ultrasound and MRI technology to establish a prenatal diagnosis and evaluation system for congenital talipes equinovarus. On the basis of existing genetic testing, further use of whole-exome sequencing and other genomic methods to explore possible pathogenic genes and loci, and clarify the pathogenic mechanism of congenital talipes equinovarus. Therefore, congenital talipes equinovarus can improve its diagnosis and treatment capacity, reduce the disability rate related to congenital talipes equinovarus, and prevent it well.