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Fetal Anomalies: Surveillance and Diagnostic Accuracy of Ultrasound and Magnetic Resonance Imaging
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Women's and Children's Health. (Obstetrik)
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. , p. 64
Series
Digital Comprehensive Summaries of Uppsala Dissertations from the Faculty of Medicine, ISSN 1651-6206 ; 545
Keywords [en]
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
Identifiers
URN: urn:nbn:se:uu:diva-121503ISBN: 978-91-554-7763-9 (print)OAI: oai:DiVA.org:uu-121503DiVA, id: diva2:305501
Public defence
2010-05-07, Rudbeck auditorium, Rudbeck Laboratory, entrance C11, Uppsala, 09:15 (Swedish)
Opponent
Supervisors
Available from: 2010-04-16 Created: 2010-03-24 Last updated: 2010-04-16
List of papers
1. Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies
Open this publication in new window or tab >>Comparison of ultrasound and autopsy findings in pregnancies terminated due to fetal anomalies
Show others...
2006 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 85, no 10, p. 1208-1216Article 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.

Keywords
fetal anomaly, ultrasound, antenatal diagnosis, pregnancy termination, fetal autopsy
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-21374 (URN)10.1080/00016340600880886 (DOI)000241362200009 ()17068680 (PubMedID)
Available from: 2008-06-28 Created: 2008-06-28 Last updated: 2017-12-08Bibliographically approved
2. The Swedish Birth Defects Registry: ascertainment and incidence of spina bifida and cleft lip/palate
Open this publication in new window or tab >>The Swedish Birth Defects Registry: ascertainment and incidence of spina bifida and cleft lip/palate
2009 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 88, no 6, p. 654-659Article in journal (Refereed) Published
Abstract [en]

OBJECTIVES: To assess the ascertainment of spina bifida and cleft lip/palate (CLP) in newborns and in fetuses from terminated pregnancies (ToPs) in the Swedish Birth Defects Registry (BDR) and to estimate the true incidences of these two anomalies. DESIGN: Retrospective register study. SETTING: Center for Epidemiology at the Swedish National Board of Health and Welfare, and Uppsala University Hospital. POPULATION: Newborns and fetuses from ToPs with spina bifida (1999-2004) and CLP (1999-2002) in Sweden. METHODS: Data from four registries/sources were used to estimate ascertainment in BDR and incidences of spina bifida and CLP. Main outcome measure: Ascertainment, under-ascertainment, and true incidence. RESULTS: For newborns, under-ascertainment of spina bifida and CLP were 6 and 13%, respectively, in BDR after record linkage with the Medical Birth Registry. Ascertainment of cleft palate increased when accompanied by cleft lip. The under-ascertainment of spina bifida in ToPs after 18 gestational weeks was 27%. Ascertainment of CLP in all ToPs and of spina bifida in ToPs before the 18th gestational week could not be estimated. The majority (109/155, 70%) of ToPs with spina bifida occurred before the 18th week. The estimated incidence of spina bifida per 10,000 births was 6.1 (2.4 newborns and 3.7 ToPs) and of CLP 20.1 (18.9 newborns and 1.2 ToPs). CONCLUSION: The ascertainments are relatively high for newborns in BDR, but lower or unknown for ToPs, which has an impact on the surveillance of spina bifida in view of the high proportion of ToPs.

Keywords
Birth defects registry, ascertainment, cleft lip/palate, spina bifida, termination of pregnancies
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:uu:diva-106006 (URN)10.1080/00016340902934696 (DOI)000267201800006 ()19412801 (PubMedID)
Available from: 2009-06-11 Created: 2009-06-11 Last updated: 2017-12-13Bibliographically approved
3. The Clinical Impact of Fetal Magnetic Resonance Imaging on Management of CNS Anomalies in the Second Trimester of Pregnancy
Open this publication in new window or tab >>The Clinical Impact of Fetal Magnetic Resonance Imaging on Management of CNS Anomalies in the Second Trimester of Pregnancy
2010 (English)In: Acta Obstetricia et Gynecologica Scandinavica, ISSN 0001-6349, E-ISSN 1600-0412, Vol. 89, no 12, p. 20p. 1571-1581Article in journal (Refereed) Published
Abstract [en]

Objectives: To evaluate the additional information of second trimester magnetic resonance imaging (MRI) compared to ultrasound in fetuses with identified or suspected CNS anomalies and to study the clinical impact of the information on pregnancy management.

Design: Prospective study during 2004-2007. The fetal MRI examination was planned to be performed within three days after the ultrasound.

Setting: Uppsala University hospital.    

Subjects: Twenty-nine pregnant women where second trimester ultrasound identified or suspected fetal CNS anomalies.

Main outcome measures: Evaluation of the additional information gained from MRI and the consequence it had on pregnancy management.

Results: The mean interval between ultrasound and MRI was 1.6 days (range 0 –7). In 18 fetuses (62 %)  MRI verified the ultrasound diagnosis but provided no additional information, while in 8 (28 %) MRI gave additional information without changing the management. In 3 (10 %), MRI provided additional information that changed the management of the pregnancy. Two of these women were obese.

Conclusions: Fetal MRI in the second trimester might be a clinically valuable adjunct to ultrasound for the evaluation of CNS anomalies, especially when ultrasound is inconclusive due to maternal obesity.

 

Publisher
p. 20
Keywords
CNS anomalies, Fetal MRI, Pregnancy management, Second trimester, Ultrasound
National Category
Medical and Health Sciences
Research subject
Obstetrics and Gynaecology; Medicine
Identifiers
urn:nbn:se:uu:diva-121487 (URN)10.3109/00016349.2010.526184 (DOI)000284318900012 ()21080900 (PubMedID)
Available from: 2010-03-24 Created: 2010-03-24 Last updated: 2017-12-12Bibliographically approved
4. The Clinical Impact of Fetal Magnetic Resonance Imaging on Management of Non-CNS Anomalies in the Second Trimester of Pregnancy
Open this publication in new window or tab >>The Clinical Impact of Fetal Magnetic Resonance Imaging on Management of Non-CNS Anomalies in the Second Trimester of Pregnancy
(English)Manuscript (preprint) (Other academic)
Abstract [en]

Objectives: To evaluate the additional information of second trimester MRI compared to ultrasound in fetuses with identified or suspected non-CNS anomalies and to study the clinical impact of the MRI information on pregnancy management.

Methods: Sixty-three women were included, where the second trimester ultrasound identified or raised suspicion of fetal anomalies. Ultrasound was compared to MRI in relation to the final diagnosis, fetal autopsy if performed or postnatal diagnosis. The additional information of MRI and effect on pregnancy management was estimated in consensus.

Results: The mean gestational age at the last ultrasound before MRI was 18+1 weeks (range 13+0-21+5). The mean interval between ultrasound and MRI was 2.6 days (range 0-15). In 42 (67 %) cases MRI was performed within three days. All MRI examinations were assessable. In 43 (68 %) fetuses MRI provided no additional information, in 17 (27 %) MRI added information without changing the management and in three (5 %) MRI provided additional information which changed the management. These three cases had all oligohydramnios. In all six cases of diaphragmatic hernia MRI provided additional information.

Conclusions: Fetal MRI of non-CNS anomalies is feasible in the second trimester and gives additional information in nearly a third of cases. It may provide a clinically valuable adjunct to ultrasound especially in cases of diaphragmatic hernia or oligohydramnios.

Keywords
Fetal MRI, non-CNS anomalies, second trimester, ultrasound, pregnancy management, antenatal diagnosis
National Category
Obstetrics, Gynecology and Reproductive Medicine
Research subject
Obstetrics and Gynaecology
Identifiers
urn:nbn:se:uu:diva-121500 (URN)
Available from: 2010-03-24 Created: 2010-03-24 Last updated: 2010-03-24

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