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Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health, Obstetrics and Gynaecology. (Obstetrisk forskning/Axelsson)
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Genetics and Pathology.
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2006 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 85, no 10, 1208-1216 p.Article in journal (Refereed) Published
Abstract [en]

Objective. To compare antenatal diagnoses with autopsy findings in pregnancies terminated after ultrasound detection of fetal anomalies. A second aim was to study the quality of antenatal fetal diagnosis over time. Design. Retrospective, multicenter study over two consecutive six-year periods in Uppsala and Stockholm. Setting. Cases were identified through fetal autopsy reports. Subjects. Three hundred and twenty-eight fetuses from pregnancies terminated between 1992 and 2003 because of ultrasonographically diagnosed anomalies. Main outcome measures. The findings at the last ultrasound examination were compared with the autopsy reports. Results. In 299 cases (91.2%) ultrasound findings either exactly matched or were essentially similar to the autopsy findings. In 23 cases (7%) ultrasound findings were not confirmed at autopsy, but the postnatal findings were at least as severe as the antenatal ones. In six cases (1.8%) termination was performed for an anomaly which proved to be less severe than was predicted by ultrasound. The number of such cases was the same in both six-year periods, while the total number of cases increased from 113 in the first to 215 in the second period. Fetal examination provided further diagnostic information in 47% of the cases. In 10% a syndrome was disclosed. Conclusion. Termination of pregnancy was not always based on a correct antenatal diagnosis. All fetuses but one from terminated pregnancies had evident anomalies. In six cases (1.8%) the decision to terminate was based on suboptimal prognostic and diagnostic information. Fetal autopsy by an experienced perinatal pathologist is essential to provide a definitive diagnosis.

Place, publisher, year, edition, pages
2006. Vol. 85, no 10, 1208-1216 p.
Keyword [en]
fetal anomaly, ultrasound, antenatal diagnosis, pregnancy termination, fetal autopsy
National Category
Medical and Health Sciences
URN: urn:nbn:se:uu:diva-21374DOI: 10.1080/00016340600880886ISI: 000241362200009PubMedID: 17068680OAI: oai:DiVA.org:uu-21374DiVA: diva2:49147
Available from: 2008-06-28 Created: 2008-06-28 Last updated: 2011-05-27Bibliographically approved
In thesis
1. Fetal Anomalies: Surveillance and Diagnostic Accuracy of Ultrasound and Magnetic Resonance Imaging
Open this publication in new window or tab >>Fetal Anomalies: Surveillance and Diagnostic Accuracy of Ultrasound and Magnetic Resonance Imaging
2010 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

The aims were to investigate the accuracy of ultrasound in diagnosis of structural fetal anomalies with special focus on false positive findings (I), to evaluate the additional value of second trimester fetal MRI on pregnancy management (II-III) and to estimate the ascertainment in the Swedish Birth Defects Registry and incidence of spina bifida and cleft lip/palate (IV).

Retrospectively, 328 fetal autopsies were identified where pregnancies were terminated due to ultrasonographically diagnosed fetal anomalies. In 175 (53.4 %) cases ultrasound and fetal autopsy were identical, in 124 (37.8 %) ultrasound was almost correct, in 23 (7.0 %)  ultrasound diagnoses could not be verified, but fetal autopsy showed other anomalies with at least the same prognostic value and in six (1.8 %)  ultrasound diagnosis could not be verified and autopsy showed no or less severe anomalies (I).

Prospectively, 29 pregnancies with CNS- (II) and 63 with non-CNS-anomalies (III) were included. In the CNS study MRI provided no additional information in 18 fetuses (62 %), additional information without changing the management in 8 (28 %) and additional information altering the pregnancy management in 3 (10%). In the non-CNS study the corresponding figures were 43 (68 %), 17 (27 %) and three (5 %), respectively. MRI in the second trimester might be a clinically valuable adjunct to ultrasound for the evaluation of CNS anomalies, especially when the ultrasound is inconclusive due to maternal obesity (II) and in non-CNS anomalies in cases of diaphragmatic hernia or oligohydramnios (III).

In newborns, the ascertainments of birth defects are relatively high and assessable, but in pregnancy terminations they are lower or unknown. The incidence of newborns with spina bifida has decreased because of an increased rate of pregnancy terminations (>60%). There is room for improvement concerning the reporting of anomalies from terminated pregnancies (IV).

Place, publisher, year, edition, pages
Uppsala: Acta Universitatis Upsaliensis, 2010. 64 p.
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 545
Pregnancy termination, fetal anomalies, antenatal diagnosis, ultrasound, second trimester, fetal MRI, CNS anomalies, pregnancy management, non-CNS anomalies, fetal autopsy, birth defects registry, ascertainment, spina bifida, cleft lip/palate
National Category
Obstetrics, Gynecology and Reproductive Medicine Obstetrics, Gynecology and Reproductive Medicine
Research subject
Obstetrics and Gynaecology
urn:nbn:se:uu:diva-121503 (URN)978-91-554-7763-9 (ISBN)
Public defence
2010-05-07, Rudbeck auditorium, Rudbeck Laboratory, entrance C11, Uppsala, 09:15 (Swedish)
Available from: 2010-04-16 Created: 2010-03-24 Last updated: 2010-04-16

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Amini, HashemAxelsson, Ove
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