Publications by authors named "Marie Pierre Brechard"
Article Synopsis
- - The study focuses on 46,XX SRY-positive males, who have a testicular disorder due to a translocation of the SRY gene, highlighting possible connections between short stature and complex chromosomal rearrangements.
- - Research involved data from 12 laboratories, revealing that 89.5% of patients had SRY present and various X chromosome breakpoints, impacting gene structures, particularly with the ARSE gene in some cases.
- - Despite observing differences in chromosome structure, the height comparison between patients with and without ARSE deletion showed no significant statistical difference, indicating other factors may influence stature in these individuals.
Article Synopsis
- A study screened 80 fetuses with congenital heart defects (CHDs) or heterotaxy, revealing a 12.5% pathogenic variant rate, especially higher in those with heterotaxy.
- Most fetuses were male, and a significant portion had additional anomalies beyond heart defects.
- The study found that genetic counseling for future pregnancies is more effective with these results, highlighting unexpected consanguinity in 20% of cases with identified variants.
Article Synopsis
- Atypical fetal chromosomal anomalies (ACAs) are more common than thought and can impact fetal development, hence a new screening strategy for non-invasive prenatal testing (NIPT) was developed.
- The screening was tested on two cohorts: Cohort A with 192 plasma samples (42 with ACAs) evaluated the test's performance, showing an 88.1% sensitivity and 99.3% specificity.
- In Cohort B, involving 3,097 pregnant women, there was a 1.2% positive result rate for anomalies, indicating that this genome-wide NIPT can effectively screen for ACAs while requiring minimal additional invasive tests, especially for at-risk women.
Background: Cerebral cavernous malformations (CCMs) are vascular malformations mostly located within the central nervous system. Most deleterious variants are loss of function mutations in one of the three genes. These genes code for proteins that form a ternary cytosolic complex with CCM2 as a hub.
View Article and Find Full Text PDFIntroduction: Transabdominal chorionic villus sampling (CVS) is an invasive procedure for prenatal diagnosis reported to be associated with anxiety and pain. In this context, the need for analgesia during CVS has been considered useful. Even though several authors have been interested in pain management during amniocentesis, no study has been published on pain reduction during CVS.
View Article and Find Full Text PDFBackground: Analysis of cell-free fetal DNA in maternal plasma is very promising for early diagnosis of monogenic diseases. However, it has been limited by the need to set up patient- or disease-specific custom-made approaches. Here we propose a universal test based on fluorescent multiplex PCR and size fragment analysis for an indirect diagnosis of cystic fibrosis (CF).
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