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- W2897742077 abstract "To investigate the different phenotype of short limb abnormalities related to different mutations in the same FGFR3 (fibroblast growth factor receptor 3, FGFR3) and to provide a theoretical basis for prenatal diagnosis and genetic counselling This study enrolled 13 cases of fetal short-limb dysplasia that were identified by ultrasound examination at Beijing Obstetrics and Gynecology Hospital from January 2015 to December 2017. All cases has been diagnosed with known pathogenic heterozygous mutations of FGFR3. For all cases, fetal umbilical cord blood, amniotic fluid or abortion tissues were retained. We sequentially conducted fetal chromosome examination, whole-genome sequencing, targeted gene sequencing and examined 363 genes related to skeletal development abnormalities. At the same time, parents' blood samples were retained for Sanger sequencing validation. X-ray and pathological examination were performed after termination of pregnancy. 13 cases with FGFR3 gene heterozygous known mutation, distributed in 4 regions of c.742C>T (p.Arg248Cys), c.1144G>A (p.Gly382Arg), c.1124A>G (p.Tyr375Cys) and c.2426G>C (p.X809S, 101). Finally, 9 cases of were diagnosed as Thanatophoric dysplasia (TD), 4 cases were diagnosed as achondroplasia (ACH). Genetic testing via 1st-generation sequencing for all cases confirmed that the mutations were all de novo mutations, and neither parents carried the mutations. And natural conception was suggested for the patients. Among them, 3 patients had delivered healthy baby before, and 4 patients had delivered healthy baby after induction. Analysis of different cite gene diagnosis of FGFR3 can eventually clarify the classification of the diseases so as to provide patients with more comprehensive prenatal diagnosis and genetic counselling and to offer a theoretical basis for early intervention of birth defects and assessment of subsequent fertility risks." @default.
- W2897742077 created "2018-10-26" @default.
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- W2897742077 date "2018-10-01" @default.
- W2897742077 modified "2023-09-24" @default.
- W2897742077 title "P02.09: Prenatal diagnosis and genetic counselling of FGFR3 gene-related fetal skeletal dysplasia with analysis of 13 clinical cases" @default.
- W2897742077 doi "https://doi.org/10.1002/uog.19633" @default.
- W2897742077 hasPublicationYear "2018" @default.
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