EP18.25: Exome sequencing reveals patterns in recurrent isolated fetal anomalies: insights from three case reports.

Autor:	Petrovic, B., Petronijevic, S. Vrzic, Stamenkovic, J., Radovanovic, M. Komnenic, Vucinic, O. Kontic, Dugalic, M. Gojnic, Stojanovic, L. Zdelar, Pjevic, M. Dusanovic
Předmět:	FETAL abnormalities PRENATAL care GENETIC counseling PRENATAL diagnosis GENETIC disorder diagnosis FAMILIAL spastic paraplegia
Zdroj:	Ultrasound in Obstetrics & Gynecology; Sep2024 Supplement 1, Vol. 64, p289-289, 1p
Abstrakt:	This article discusses the use of prenatal exome sequencing in diagnosing and understanding the genetic origins of recurrent isolated fetal anomalies. The authors present three cases where exome sequencing identified gene mutations associated with specific anomalies detected through ultrasound. The first case involved microcephaly, the second case involved hydrocephalus, and the third case involved omphalocele. The article emphasizes the importance of genetic investigation in providing precise diagnosis, risk assessment, and informed genetic counseling for prenatal care and clinical management. [Extracted from the article]
Databáze:	Complementary Index
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