The evolution of prenatal diagnosis in the early detection of congenital anomalies: data from 1997 to 2016

Braz, Paula; Machado, Ausenda; Matias Dias, Carlos

Publication

The evolution of prenatal diagnosis in the early detection of congenital anomalies: data from 1997 to 2016

2018-09Conference object

dc.contributor.author	Braz, Paula
dc.contributor.author	Machado, Ausenda
dc.contributor.author	Matias Dias, Carlos
dc.date.accessioned	2019-03-08T16:13:47Z
dc.date.available	2019-03-08T16:13:47Z
dc.date.issued	2018-09
dc.description	Abstract publicado em: European Journal of Medical Genetics. 2018;61(9):572. https://doi.org/10.1016/j.ejmg.2018.06.071	pt_PT
dc.description.abstract	BACKGROUND: The Portuguese prenatal surveillance programme advise ultrasound screenings, in the first trimester of pregnancy in combination with the blood test, and between 20 - 22 weeks of pregnancy. Other tests are offered in pregnancies with an increased risk. The aim of this study is to assess the evolution of prenatal diagnosis in the detection of congenital anomalies (CA). METHODS: A cross sectional study was implemented using data collected between 1997 - 2016 by the Portuguese registry of CA (RENAC) a population base registry that follow EUROCAT guidelines. A case was defined with at least one CA potentially detectible by prenatal diagnosis. Descriptive analysis was performed using absolute and relative frequencies and bivariate analysis was conducted using chi-square statistics. RESULTS: The analysis included 13566 cases reported with at least one CA. There was an statistically significant increase in the detection of CA through prenatal diagnosis compared to detection at birth or after birth (p<0.001). In addition, there was an increase of cases detected during pregnancy from 52.1% (1997-1999) to 62.9% (2009-2016) especially in cases detected before 14 weeks (7.9% to 28.9%). Comparing the same periods of time the results also show a range of ultrasound screening from 27% to 55.8% and a decrease in invasive tests from 18.9% to 3%. This tendency was statistically significant (p<0.001). CONCLUSION: The data show a positive effect on the percentage of cases with CA detected during pregnancy. These results show the importance of extending prenatal tests to the all pregnant women and not only to those with specific risk gestations.	pt_PT
dc.description.version	info:eu-repo/semantics/publishedVersion	pt_PT
dc.identifier.uri	http://hdl.handle.net/10400.18/6108
dc.language.iso	eng	pt_PT
dc.peerreviewed	yes	pt_PT
dc.publisher	Instituto Nacional de Saúde Doutor Ricardo Jorge, IP	pt_PT
dc.subject	Prenatal Diagnosis	pt_PT
dc.subject	Cuidados de Saúde	pt_PT
dc.subject	RENAC	pt_PT
dc.title	The evolution of prenatal diagnosis in the early detection of congenital anomalies: data from 1997 to 2016	pt_PT
dc.type	conference object
dspace.entity.type	Publication
oaire.citation.conferencePlace	Ispra, Itália	pt_PT
oaire.citation.title	14th EUROCAT Symposium: Future perspectives for congenital anomaly research, 14-15 June 2018	pt_PT
rcaap.rights	openAccess	pt_PT
rcaap.type	conferenceObject	pt_PT