| Autor: |
Schiessl, B., Janke, A., Liebrecht, D., Daumer‐Haas, C., Shoukier, M. |
| Předmět: |
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| Zdroj: |
Ultrasound in Obstetrics & Gynecology; Sep2024 Supplement 1, Vol. 64, p294-294, 1p |
| Abstrakt: |
This article discusses a case study involving a fetus with thickened nuchal translucency and congenital corrected transposition of the great arteries. The study highlights the importance of first trimester sonography in detecting fetuses at risk for genetic and morphological abnormalities. The fetus was found to have Kabuki Syndrome, a rare disorder characterized by multiple congenital anomalies and neurodevelopmental disorders. The patient, who was an intensive care nurse, chose to terminate the pregnancy after receiving intensive counseling. The study emphasizes the need for close follow-up and expanded prenatal genetic diagnostics after initial normal karyotype results. [Extracted from the article] |
| Databáze: |
Complementary Index |
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