Related Experiment Video
Updated: Apr 17, 2026

Transuterine Fetal Tracheal Occlusion Model in Mice
Published on: February 5, 2021
Increased first-trimester nuchal translucency associated with thanatophoric dysplasia type 1
1a Prenatal Diagnostic Center, Guangzhou Women and Children's Medical Center, Guangzhou Medical University , Guangzhou, Guangdong , China.
Abstract:
Thanatophoric dysplasia (TD) is the most frequent form of lethal skeletal dysplasia. Prenatal diagnosis is commonly accomplished in the second-trimester scan, but occasionally TD is found to be associated with increased nuchal translucency (NT) at first-trimester screening for aneuploidies. TD may not be clearly distinguished from the other skeletal dysplasias. A definite diagnosis can be established by molecular genetic analysis to find out the abnormal mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. We reported a case of TD type 1 detected by first-trimester NT measurement, and confirmed by molecular analysis of FGFR3 gene using high-resolution melting analysis.
More Related Videos
09:39Generation of Induced Pluripotent Stem Cells from Turner Syndrome 45XO Fetal Cells for Downstream Modelling of Neurological Deficits Associated with the Syndrome
Published on: December 4, 2021
09:30Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
Related Concept Videos
Teratogenicity
Meiosis I
Nondisjunction
Nondisjunction