Clinical Research Directory

Mapping of Genomic Structural Variations in Major Birth Defects

In the context of intricate cases with ambiguous prenatal genetic diagnoses, this project intends to carry out long - read DNA sequencing data analysis on birth defect cases and family samples. The emphasis lies on the extraction and identification of individual - specific genomic characteristics, as well as the development of detection algorithms for all categories of structural variations (SV), including complex SV. It will establish a pan - genomic reference map specific to the Chinese population to facilitate the identification of pathogenic SV in birth defect cases and family samples of the Chinese population, and delineate the detailed SV spectrum of major birth defects in the Chinese population. Additionally, the project will conduct in - depth analyses of the genetic and pathogenic roles of different types of SV in birth defects, offering a theoretical foundation for promoting the early warning, intervention, and prevention of major birth defects in China.

Shifting Options Study

The goal of Shifting Options is to create strategies and resources that will facilitate informed decision-making about prenatal screening and diagnostic testing (PS\&D) for all pregnant patients. Shifting Options will determine how rapid changes in PS\&D and post-diagnosis options affect the nature and timing of resources and support patients need to make informed PS\&D decisions. To achieve this goal, patient participants will be interviewed to identify their PS\&D decision-making needs. Then, clinician participants input will be added on how best to implement strategies that address those needs.

Normative Brain Volume Profiles From Multicenter Fetal MRI

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.

The National Program for the Improvement of Management of Fetal Congenital Heart Disease in China

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.