Publications by authors named "N Bigi"
Article Synopsis
- Molecular diagnosis using singleton exome sequencing (sES) in fetuses with multiple congenital abnormalities (MCA) shows a lower diagnostic yield (20%) compared to live births with developmental issues (30%), indicating potential underestimation of genetic variant impact in fetal cases.
- In a study of 95 fetuses with MCA, a genotype-first strategy was employed, blending variant analysis and bioinformatics with reverse phenotyping to determine the clinical significance of genetic variations.
- The results revealed causal variants in 25% of fetuses, unknown significance variants in 8%, and identified six novel candidate genes, highlighting the importance of prenatal genetic studies for understanding complex disorders.
Background: Tetrasomy 21 is a very rare aneuploidy which could clinically resemble a Down syndrome. It was most often described in its partial form than complete. We report the prenatal, pathological and genetic characteristics of a fetus with mosaic complete tetrasomy 21.
View Article and Find Full Text PDFObjective: To demonstrate the feasibility of measuring the fetal pubic diastasis (PD) distance on antenatal ultrasound in normal fetuses and to compare it to fetuses with bladder exstrophy.
Methods: Firstly, a prospective multicentric study was conducted to determine the feasibility of the PD ultrasound measurement during the second half of pregnancy. Secondly, data from a single center were used to develop a nomogram for PD values in normal fetuses.
To unravel missing genetic causes underlying monogenic disorders with recurrence in sibling, we explored the hypothesis of parental germline mosaic mutations in familial forms of malformation of cortical development (MCD). Interestingly, four families with parental germline variants, out of 18, were identified by whole-exome sequencing (WES), including a variant in a new candidate gene, syntaxin 7. In view of this high frequency, revision of diagnostic strategies and reoccurrence risk should be considered not only for the recurrent forms, but also for the sporadic cases of MCD.
View Article and Find Full Text PDF[Absent or hypoplastic thymus: A marker for 22q11.2 microdeletion syndrome in case of polyhydramnios].
J Gynecol Obstet Biol Reprod (Paris)
April 2016
Objectives: In prenatal diagnosis of 22q11.2 microdeletion syndrome, without cardiac malformation or multiple associated congenital anomalies, we study the presence of polyhydramnios and its association with thymic dysgenesis.
Materials And Methods: This was a multicenter retrospective observational study.