1. EP06.45: Prenatal diagnosis of Temple syndrome in the second trimester.
- Author
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Hynek, M., Diblík, J., and Pokorná, M.
- Subjects
UMBILICAL arteries ,PRENATAL diagnosis ,GENETIC disorder diagnosis ,DEVELOPMENTAL delay ,TRISOMY - Abstract
This article discusses the first prenatal diagnosis of Temple syndrome, a rare genetic condition characterized by distinct facial features, developmental delay, growth restriction, precocious puberty, and abnormalities of the hands and feet. The syndrome is caused by maternal uniparental disomy of chromosome 14 (UPD(14)mat) in the 14q32.2 region. The case study involves a 41-year-old woman who opted for the NIPT test during her second pregnancy, which indicated a low risk for common trisomies but a possible risk of trisomy 14. Subsequent testing revealed a low-level mosaic of trisomy 14 in the amniocytes, and ultrasound examinations showed early growth restriction and other abnormalities. The pregnancy was terminated, and autopsy confirmed the ultrasound findings. The article highlights the complexity of prenatal genetic diagnosis and the importance of comprehensive testing in detecting rare genetic syndromes. [Extracted from the article]
- Published
- 2024
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