Publications by authors named "H Lallaoui"
Up to 80% of BRCA1 and BRCA2 genetic variants remain of uncertain clinical significance (VUSs). Only variants classified as pathogenic or likely pathogenic can guide breast and ovarian cancer prevention measures and treatment by PARP inhibitors. We report the first results of the ongoing French national COVAR (cosegregation variant) study, the aim of which is to classify BRCA1/2 VUSs.
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- 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.
Article Synopsis
- The study investigated 22q11.2 deletion syndrome (22q11.2DS), a common microdeletion syndrome, focusing on its incidence and symptoms in patients diagnosed after birth across multiple French cytogenetic centers from 1995 to 2013.
- A total of 749 patients were analyzed, with major reasons for referral including congenital heart defects (48.6%), facial abnormalities (49.7%), and developmental delays (40.7%).
- Most cases were diagnosed using FISH technology (96.1%), with over 108 new cases detected annually in France, highlighting congenital heart defects, especially septal defects, as the primary postnatal malformation.
Objective: The 22q11.2 deletion (del22q11.2) is one of the most common microdeletions.
View Article and Find Full Text PDFObjectives: This study was undertaken to discuss the workup of trisomy 16 pregnancies.
Study Design: This case study reports the prenatal detection and postnatal confirmation of mosaic trisomy 16, associated with uniparental disomy (UPD) 16, in a 34-year-old woman who showed elevated maternal serum alpha-fetoprotein and beta-HCG at a gestational age (GA) of 15.5 weeks.