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Prenatal diagnosis of genetic syndromes


Barišić, Ingeborg; Petković Tokić, Višnja; Loane, Maria; Dolk, Helen
Prenatal diagnosis of genetic syndromes // Proceedings of the 1th Global Conference on Cardiovascular Clinical Trials and Pharmacotherapy, 2nd WHF Global Conference on Cardiovascular Clinical Trials and 13th International Society of Cardiovascular Pharmacotherapy Congress / Tse H. ; Tse T. ; Lau C. ; Woo, K. (ur.).
Hong Kong, Kina, 2005. (poster, nije recenziran, sažetak, znanstveni)


Naslov
Prenatal diagnosis of genetic syndromes

Autori
Barišić, Ingeborg ; Petković Tokić, Višnja ; Loane, Maria ; Dolk, Helen

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Proceedings of the 1th Global Conference on Cardiovascular Clinical Trials and Pharmacotherapy, 2nd WHF Global Conference on Cardiovascular Clinical Trials and 13th International Society of Cardiovascular Pharmacotherapy Congress / Tse H. ; Tse T. ; Lau C. ; Woo, K. - , 2005

ISBN
978-88-7587-129-1

Skup
1th Global Conference on Cardiovascular Clinical Trials and Pharmacotherapy, 2nd WHF Global Conference on Cardiovascular Clinical Trials and 13th International Society of Cardiovascular Pharmacotherapy Congress

Mjesto i datum
Hong Kong, Kina, 01-03.10.2004

Vrsta sudjelovanja
Poster

Vrsta recenzije
Nije recenziran

Ključne riječi
Prenatal diagnosis; genetic syndrome

Sažetak
Genetic syndromes mostly occur sporadically in couples with no prior risk. Ultrasound (US) screening provides a potential tool to detect them successfully. Due to the fact that many of these syndromes are quite rare, the clinical use of routine prenatal ultrasound in their detection has not been fully investigated. We present data on the prenatal diagnosis of nine non-chromosomal genetic syndromes provided by 25 congenital malformation registries across Europe. US led to the prenatal detection of 32% of 536 cases of analysed genetic syndromes, thereby resulting in a 24% reduction in their prevalence at birth, due to termination of pregnancy. 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.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti, Javno zdravstvo i zdravstvena zaštita



POVEZANOST RADA


Projekt / tema
0072165

Ustanove
Klinika za dječje bolesti Medicinskog fakulteta