Publications by authors named "C Duvillier"
Background: Exome sequencing in prenatal context confronts with pathogenic variants associated with phenotypes that are not detectable prenatally.
Materials And Methods: A consanguineous couple was referred at 24 weeks of gestation for prenatal genetic investigations after ultrasonography findings including decreased fetal movements, hypoplastic male external genitalia, retrognathia, prefrontal edema, anomalies of the great vessels with pulmonary atresia and dilated tortuous aorta.
Result: Prenatal trio exome sequencing identified two homozygous likely pathogenic variants, i.
The clinical value of optical genome mapping in the rapid characterization of RB1 duplication and 15q23q24.2 triplication, for more appropriate prenatal genetic counselling.
Mol Genet Genomic Med
April 2024
Background: Despite recent advances in prenatal genetic diagnosis, medical geneticists still face considerable difficulty in interpreting the clinical outcome of copy-number-variant duplications and defining the mechanisms underlying the formation of certain chromosomal rearrangements. Optical genome mapping (OGM) is an emerging cytogenomic tool with proved ability to identify the full spectrum of cytogenetic aberrations.
Methods: Here, we report on the use of OGM in a prenatal diagnosis setting.
Article Synopsis
- The study investigates the relationship between gestational age and cesarean delivery rates in nulliparous women (first-time mothers) in France, aiming to clarify gaps in existing data about this issue in high-income countries.
- It analyzed a cohort of women with singleton, cephalic-position pregnancies from a network of maternity units over a two-year period, focusing on deliveries that occurred at or after 37 weeks of gestation.
- The researchers employed statistical models to compare cesarean rates for pregnancies ongoing at each gestational week, adjusting for various maternal characteristics and hospital factors to provide a comprehensive assessment.
[Induction of labour with oral misoprostol versus vaginal misoprostol: A before-after study].
Gynecol Obstet Fertil Senol
June 2022
Objective: The rate of induction of labor represented 22 % of deliveries in 2016 in France. Oral misoprostol (Angusta®) was marketed in France in the last quarter of 2018. The objective of our study was to compare the efficacy and safety of induction of labor with oral misoprostol compared to vaginal misoprostol in women with an unripe cervix.
View Article and Find Full Text PDFObjective: To evaluate the impact of implementing cell-free DNA (cfDNA) testing on gestational age (GA) at termination of pregnancy in a French perinatal network.
Methods: We conducted a retrospective study. All women having undergone a termination of pregnancy between 1 January 2012 and 31 December 2017 were included.