Year: 2024
Type: conference-abstract
Abstract: Skeletal anomalies are a large group of congenital anomalies that may be accompanied by other rare systemic anomalies. Some skeletal dysplasias are lethal and may also be found as part of a syndrome. A G1P0 pregnant woman was referred to our clinic at 22+1/7 gestational weeks. USG examination revealed absence of the tibia, fibula and foot structures and quite short femurs in both lower extremities, additionally only two finger structures on each hand. Right renal pelviectasis with increased nuchal fold were also detected. The pregnancy was terminated upon the request of the family. The result of fetal genetic analysis were normal. In the USG examination performed at the 13+4/7 gestational weeks of the same patient's next pregnancy, three fingers on each hand were observed. While the tibia, fibula and foots were not seen in both lower extremities, very short femur structures were observed. In addition, USG examination revealed cystic hygroma, tricuspid regurgitation. After termination of pregnancy, the results of genetic analysis could not obtained due to culture failure. As a result of maternal whole exome sequencing (WES) two heterozygous pathogenic genetic variants were detected. In conclusion, the existence of the fetal extremity anomalies in two consecutive pregnancies may coexisted with a genetic anomaly. The pathogenic variants detected by WES in the mother were perhaps also present in the two fetuses with previous limb anomalies. Please note: The publisher is not responsible for the content or functionality of any supporting information supplied by the authors. Any queries (other than missing content) should be directed to the corresponding author for the article.
DOI: 10.1002/uog.28313
Authors: C. Inan, C. Sayin, T. Gurbanli
Institution: Trakya University
Language: English
Subfield: Developmental Biology
Domain: Life Sciences
Open Access status: bronze
OpenAlex ID: W4402361190