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Prenatal detection of major congenital malformations in a cohort of 19 367 Danish fetuses with a complete follow‐up six months after birth

Prenatal detection of major congenital malformations in a cohort of 19 367 Danish fetuses with a... AbbreviationsCHDcongenital heart defectDRdetection rateFTSfirst‐trimester scanTOPFAtermination of pregnancy due to fetal abnormalityVSDventricular septal defectINTRODUCTIONSince 2004, all pregnant women in Denmark have been offered a combined first‐trimester screening and a second‐trimester scan by the Danish Health Authority.1 The nationally implemented prenatal screening was considered especially important in cases where (1) immediate postnatal treatment in a highly specialized hospital is essential to reduce mortality and morbidity, (2) the malformation may be a marker for genetic disorders, and (3) termination of pregnancy is an option.1 Attendance at the screening program was approximately 94%.2Key messageUltrasound scanning is a good screening test for congenital malformations and can detect many severe malformations with few false‐positive cases. The screening program had high positive predictive (94.5%) and negative predictive values (99.5%).A Danish study from 2016 showed high performance of the combined first‐trimester screening at a national level (5). A national fetal medicine database (The Danish Fetal Medicine database) was established to assess the prenatal screening program.3 However, it was not possible to evaluate the performance of the second‐trimester scan due to inconsistent registration of malformation diagnoses.3 Audit of a few selected diagnoses in the Danish Fetal Medicine database showed a considerable difference between these data and the audited http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Acta Obstetricia Et Gynecologica Scandinavica Wiley

Prenatal detection of major congenital malformations in a cohort of 19 367 Danish fetuses with a complete follow‐up six months after birth

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References (60)

Publisher
Wiley
Copyright
Copyright © 2023 Acta Obstetricia et Gynecologica Scandinavica
ISSN
0001-6349
eISSN
1600-0412
DOI
10.1111/aogs.14582
Publisher site
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Abstract

AbbreviationsCHDcongenital heart defectDRdetection rateFTSfirst‐trimester scanTOPFAtermination of pregnancy due to fetal abnormalityVSDventricular septal defectINTRODUCTIONSince 2004, all pregnant women in Denmark have been offered a combined first‐trimester screening and a second‐trimester scan by the Danish Health Authority.1 The nationally implemented prenatal screening was considered especially important in cases where (1) immediate postnatal treatment in a highly specialized hospital is essential to reduce mortality and morbidity, (2) the malformation may be a marker for genetic disorders, and (3) termination of pregnancy is an option.1 Attendance at the screening program was approximately 94%.2Key messageUltrasound scanning is a good screening test for congenital malformations and can detect many severe malformations with few false‐positive cases. The screening program had high positive predictive (94.5%) and negative predictive values (99.5%).A Danish study from 2016 showed high performance of the combined first‐trimester screening at a national level (5). A national fetal medicine database (The Danish Fetal Medicine database) was established to assess the prenatal screening program.3 However, it was not possible to evaluate the performance of the second‐trimester scan due to inconsistent registration of malformation diagnoses.3 Audit of a few selected diagnoses in the Danish Fetal Medicine database showed a considerable difference between these data and the audited

Journal

Acta Obstetricia Et Gynecologica Scandinavica – Wiley

Published: Aug 1, 2023

Keywords: congenital malformation; genetic disorder; genetic testing; prenatal detection; prenatal screening; ultrasound

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