engleski

Prenatal diagnosis of genetic syndromes

Genetic dysmorphic syndromes affecting external structures such as the face and skull, hands, feet and external genitalia, or those associated with at least one major malformation of the internal organs can be diagnosed prenatally. They mostly occur sporadically in couples with no prior risk. Routine ultrasound screening provides a potential tool to detect them successfully and evaluate them further. Due to the fact that many of these syndromes are quite rare, the clinical use of routine prenatal ultrasound and/or other prenatal diagnostic procedures in their detection has not been fully investigated. We present data on the prenatal diagnosis of selected dysmorphic syndromes provided by 20 congenital malformation registries across Europe. The detection rate varies with the different countries’ policies of prenatal screening, the operator’ s skill, equipment used, the time of the screening and the type and severity of the syndrome presentation.

prenatal diagnosis; genetic syndrome; prenatal ultrasound

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