Publications by authors named "Carine Abel"
Article Synopsis
- Prenatal exome sequencing (pES) is increasingly used to diagnose fetuses with structural defects, identifying additional conditions in about 30% who have normal chromosomal microarray analysis (CMA).
- A study categorized prenatal phenotypes for fetuses with pathogenic variants, finding typical features in 67.9% of cases, while uncommon or unreported features complicated some interpretations.
- Recommendations include standardizing prenatal feature descriptions, enhancing follow-up practices, and collecting larger datasets to improve pES analysis.
Generation and subsequently accessibility of secondary findings (SF) in diagnostic practice is a subject of debate around the world and particularly in Europe. The French FIND study has been set up to assess patient/parent expectations regarding SF from exome sequencing (ES) and to collect their real-life experience until 1 year after the delivery of results. 340 patients who had ES for undiagnosed developmental disorders were included in this multicenter mixed study (quantitative N = 340; qualitative N = 26).
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- A pilot study in France used trio-ES on 150 fetuses with significant ultrasound anomalies, with a focus on influencing pregnancy management, and found a causal diagnosis in 34% of cases within about 28 days.
- The study demonstrated a high diagnostic yield for trio-ES, comparable to postnatal diagnosis, indicating its potential for routine use in prenatal care when anomalies are detected.
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
- Segmentation defects of the vertebrae (SDV) are linked to various syndromes and involve complex genetic factors, particularly related to the Notch signaling pathway during somitogenesis.
- A study involving 73 patients utilized targeted sequencing on five known SCD-causing genes and whole-exome sequencing (WES) to identify genetic mutations, leading to ten diagnoses, with varying diagnostic yields for the gene panel and WES.
- The findings suggest that targeted sequencing should only be considered for patients who meet specific SCD criteria due to low diagnostic yields, indicating that SDV may involve more intricate genetic mechanisms.
Prenatal forms of autosomal dominant polycystic kidney disease (ADPKD) are rare but can be recurrent in some families, suggesting a common genetic modifying background. Few patients have been reported carrying, in addition to the familial mutation, variation(s) in polycystic kidney disease 1 (PKD1) or HNF1 homeobox B (HNF1B), inherited from the unaffected parent, or biallelic polycystic kidney and hepatic disease 1 (PKHD1) mutations. To assess the frequency of additional variations in PKD1, PKD2, HNF1B, and PKHD1 associated with the familial PKD mutation in early ADPKD, these four genes were screened in 42 patients with early ADPKD in 41 families.
View Article and Find Full Text PDFCongenital disorders of glycosylation (CDG) are a group of inborn errors of metabolism presenting with heterogeneous multisystemic clinical manifestations. To date, more than 60 different types of CDG have been reported. ALG3-CDG is very rare, with only nine patients described so far.
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