The implementation of a nationwide anomaly screening programme improves prenatal detection of major cardiac defects: an 11‐year national population‐based cohort study

Abstract

Objective To evaluate whether a nationwide prenatal anomaly screening programme improves detection rates of univentricular heart (UVH) and transposition of great arteries (TGA), and whether maternal risk factors for severe fetal heart disease affect prenatal detection. Design Population‐based cohort study. Setting Nationwide data from Finnish registries 2004–14. Population A total of 642 456 parturients and 3449 terminated pregnancies due to severe fetal anomaly. Methods Prenatal detection rates were calculated in three time periods (prescreening, transition and screening phase). The effect of maternal risk factors (obesity, in vitro fertilisation, pregestational diabetes and smoking) was evaluated. Main outcome measures Change in detection rates and impact of maternal risk factors on screening programme efficacy. Results In total, 483 cases of UVH and 184 of TGA were detected. The prenatal detection rate of UVH increased from 50.4% to 82.8% and of TGA from 12.3% to 41.0% (P < 0.0001). Maternal risk factors did not affect prenatal detection rate, but detection rate differed substantially by region. Conclusions A nationwide screening programme improved overall UVH and TGA detection rates, but regional differences were observed. Obesity or other maternal risk factors did not affect the screening programme efficacy. The establishment of structured guidelines and recommendations is essential when implementing the screening programme. In addition, a prospective screening register is highly recommended to ensure high quality of screening. Tweetable abstract Implementation of a nationwide prenatal anomaly screening improved detection rates of UVH and TGA.

Congenital heart disease, prenatal diagnosis and management

“…A high proportion of CHD without prenatal diagnosis is seen in patients who underwent several ultrasounds that only report the fetal heart rate without assessing the fetal heart anatomy. Therefore, it is critical to develop systematic training and ongoing quality programs, [2][3][4][5] which are lacking in our setting.…”

“…1 Lastly, some pathologies are easily diagnosed, while others are rarely detected ( Table 1). Thus, the rate of prenatal detection of hypoplastic left heart syndrome is high and may reach up to approximately 90 % of cases, [2][3][4][5] whereas other CHD, such as anomalous venous return, are hardly detected in the prenatal period. 1,2…”

“…1 Prenatal diagnosis allows to provide the family guidance on prognosis, plan an adequate obstetric follow-up, offer intrauterine m a n a g e m e n t f o r u n c o m m o n , especially selected cases, and, in case of a complex congenital heart disease (CHD), refer the pregnant woman to a tertiary care facility capable of providing neonatal diagnosis and management (through therapeutic catheterization and/or cardiovascular surgery), which has shown to reduce associated perinatal morbidity and mortality. [1][2][3]…”

Cardiopatías congénitas, diagnóstico y manejo prenatal

“…Una proporción importante de las CC sin diagnóstico prenatal ocurren en pacientes con numerosas ecografías en las que únicamente se informa la frecuencia cardíaca sin evaluar la anatomía del corazón fetal. Por ello, resulta fundamental el desarrollo de programas de entrenamiento sistemáticos y de auditoría continuos, [2][3][4][5] ausentes en nuestro medio. E n t e r c e r l u g a r , a ú n c o n o p e r a d o r e s entrenados, el estudio puede ser dificultoso en los pacientes con determinadas características, como obesidad materna o embarazos con polihidramnios (exceso de líquido amniótico) marcado.…”

“…1 El diagnóstico prenatal permite realizar el asesoramiento a la familia en función del pronóstico, planificar un seguimiento obstétrico adecuado, ofrecer tratamiento intrauterino e n c a s o s i n f r e c u e n t e s y m u y seleccionados, y, en presencia de una cardiopatía congénita (CC) compleja, la derivación prenatal a un centro de mayor complejidad con capacidad de diagnóstico y tratamiento neonatal (mediante el cateterismo terapéutico y/o la cirugía cardiovascular), lo cual ha demostrado disminuir l a m o r b i m o r t a l i d a d p e r i n a t a l asociada. [1][2][3]…”