The impact of prenatal diagnosis on congenital anomaly outcomes: Data from 1997 to 2016
| Autor: | Ausenda Machado, Paula Braz, Carlos Matias Dias |
|---|---|
| Rok vydání: | 2018 |
| Předmět: |
Adult
Male 0301 basic medicine medicine.medical_specialty Cross-sectional study Population Prenatal diagnosis 030105 genetics & heredity Congenital Abnormalities 03 medical and health sciences 0302 clinical medicine Pregnancy Prenatal Diagnosis Heath Impact Genetics medicine Humans education Genetics (clinical) Fetus education.field_of_study 030219 obstetrics & reproductive medicine Portugal Obstetrics business.industry RENAC Confounding Cuidados de Saúde Pregnancy Outcome General Medicine Congenital Anomalies medicine.disease Diagnóstico Prenatal Gestation Female Anomalias Congenitas business Live birth Prenatal Dagnosis |
| Zdroj: | European Journal of Medical Genetics. 61:508-512 |
| ISSN: | 1769-7212 |
| DOI: | 10.1016/j.ejmg.2018.06.006 |
| Popis: | The term prenatal diagnosis comprises a variety of techniques aimed to determine the health and condition of the embryo or foetus. Its main goal is to identify at an early stage of the pregnancy, if possible, malformations or other conditions that could increase the risk of a negative outcome in the pregnancy. The aim of this study was to assess the impact of prenatal diagnosis in Portugal in pregnancies with congenital anomalies. A cross sectional study was implemented using data for the years 1997 to 2016 from the Portuguese registry of congenital anomalies (RENAC), a population-based registry that follows EUROCAT guidelines. Analysis was restricted to malformations that are potentially detectable by prenatal diagnosis. The effect of prenatal diagnosis on outcome (death vs live birth) was estimated using a regression model. Main results indicate that prenatal diagnosis was performed in 56.1% (n = 7605) of all registered cases. At least one malformation was detected for the first time through ultrasound (47.4%), invasive tests (5.6%) and other tests (2.2%). When analysed severe CA, 54.2% was detectible by prenatal ultrasound distributed as follows: 17.4% were diagnosed before 14 weeks of gestation, 47.6% between 14 and 23 weeks and 35.0% with 24 or more weeks of gestation. TOPFA was the option for 21.3% of these CA. Over the 20 years of analysis, there was a statistically significant increase trend in the detection rate of congenital anomalies through prenatal diagnosis compared to detection at birth or after birth (p |
| Databáze: | OpenAIRE |
| Externí odkaz: |
|
Full Text from ScienceDirect