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Prenatal diagnosis of structural malformations and chromosome anomalies: Detection, influence of Body Mass Index and ways to improve screening
Linköping University, Department of Clinical and Experimental Medicine, Division of Clinical Sciences. Linköping University, Faculty of Health Sciences. Östergötlands Läns Landsting, Center of Paediatrics and Gynaecology and Obstetrics, Department of Gynaecology and Obstetrics in Linköping.
2014 (English)Doctoral thesis, comprehensive summary (Other academic)
Abstract [en]

Introduction: Prenatal diagnosis of structural malformations and chromosome anomalies is possible in the presence of an effective screening with ultrasound during pregnancy. The continuous evolution of the ultrasound equipment facilitates the examination. However there are challenges in terms of the increasing prevalence of obesity among the pregnant women and the need of training of the personnel performing the scans. In the Southeast region of Sweden all pregnant women are offered screening with ultrasound during pregnancy. From 2009 almost all women in the region are offered two examinations, one in week 11-14 assessment of gestational age and combined screening for aneuploidy. Congenital heart disease (CHD) is the most common congenital defect. About one third of the CHD cases will have a duct-dependent anomaly that is potentially life-threatening if not detected before birth.

Aims: To assess the sensitivity for detecting structural malformations and chromosome anomalies by a routine ultrasound either in gestational week 11-14 or 18-20. To estimate the influence of a high Body Mass Index (BMI) in detecting fetal structural anomalies by ultrasound. To evaluate the possibility for introducing a more accurate fetal cardiac ultrasound screening based on five different transverse views and color Doppler. To determine if the risk-estimate for trisomy 21 from the screening procedure varies over BMI strata and if obesity is associated with an increased risk of Down syndrome in the offspring.

Material and methods: Outcome measures from 21189 consecutive ultrasound examinations in the first and second trimester were analyzed and compared. The fetal anomaly diagnoses were also grouped in four BMI-groups. Then, a two-day course in examining of the fetal heart was given, analyzed and followed up. To evaluate the effect of BMI on the combined screening, 10224 patients were divided in six BMI categories. Outcomes were evaluated over BMI strata. The possibility of an association between maternal obesity and Down syndrome was analyzed in a nationwide cohort of 1568604 women giving birth in Sweden.

Results: At the first trimester scan 13% of all anomalies were detected vs 29% in the second trimester. For aneuploidy the corresponding results were 71% vs 42%, and for lethal anomalies 88% vs 92%. If divided into BMI-groups 26% of the malformations were detected in the group of normal weight women compared to 19% among the obese. For malformations with long-term handicap the corresponding figures were 46% vs 27%. After the course in examination of the fetal heart uncertainty was lower and the familiarity with the new technique was enhanced. The ability to perform the new method remained at follow up. In the combined screening, the observed and expected number with a risk of Downs syndrome >1/300 were similar in each BMI-group. Obese women had an increased risk of giving birth to an infant with Downs syndrome compared with normal weight women.

Conclusions: There was an advantage to the scan in the second trimester discovering malformations overall and an advantage to the early scan concerning aneuploidy. Lethal malformations were detected at a high level in both groups. The detection rate seemed lower for the obese women. In the screening for Down syndrome, the risk-estimate is unaffected by BMI. Detection of heart malformations needs improvement. By implementing new image modalities and providing hands-on training uncertainty in examining the fetal heart can be reduced.

Place, publisher, year, edition, pages
Linköping: Linköping University Electronic Press, 2014. , 89 p.
Series
Linköping University Medical Dissertations, ISSN 0345-0082 ; 1387
National Category
Medical and Health Sciences
Identifiers
URN: urn:nbn:se:liu:diva-104185DOI: 10.3384/diss.diva-104185ISBN: 978-91-7519-442-4 (print)OAI: oai:DiVA.org:liu-104185DiVA: diva2:695177
Public defence
2014-03-14, Berzeliussalen, Ingång 65, Campus US, Linköpings universitet, Linköping, 09:00 (Swedish)
Opponent
Supervisors
Available from: 2014-02-10 Created: 2014-02-10 Last updated: 2014-02-11Bibliographically approved
List of papers
1. Comparison of first and second trimester ultrasound screening for fetal anomalies in the southeast region of Sweden
Open this publication in new window or tab >>Comparison of first and second trimester ultrasound screening for fetal anomalies in the southeast region of Sweden
2010 (English)In: ACTA OBSTETRICIA ET GYNECOLOGICA SCANDINAVICA, ISSN 0001-6349, Vol. 89, no 11, 1412-1419 p.Article in journal (Refereed) Published
Abstract [en]

Objective. To assess and compare the sensitivity for detecting fetal anomalies and chromosomal aberrations by routine ultrasound examination performed in the second trimester with results from an examination performed at 11-14 weeks gestation. Design. Observational study. Setting. Five centers in the southeast region of Sweden. Population. A total of 21,189 unselected pregnant women. Methods. The scan was performed at one center in the first trimester and at the remaining four centers in the second trimester. Outcome measures resulting from first trimester scanning were compared with those from the second trimester scanning. Main outcome measures. Detection rates of fetal structural anomalies and chromosomal aberrations. Results. At the first trimester scan 13% of all anomalies were detected, and at the second trimester scan 29% were detected. Lethal anomalies were detected at a high level at both times: 88% in the first, 92% in the second. The percentage of chromosomal aberrations discovered at the early scan was 71%, in the later 42%. The percentage of heart malformations detected was surprisingly low. Conclusion. The results showed the advantages of the later scan in discovering anomalies of the heart, urinary tract and CNS, and of the early scan in discovering chromosomal aberrations. Lethal malformations were detected at a high level in both groups, but detection of heart malformations needs improvement.

Place, publisher, year, edition, pages
Informa Healthcare, 2010
Keyword
Fetal structural anomalies, ultrasound, detection rate
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:liu:diva-61211 (URN)10.3109/00016349.2010.517307 (DOI)000283130700006 ()
Available from: 2010-11-05 Created: 2010-11-05 Last updated: 2014-06-04
2. Maternal Obesity and Detection Rate of Fetal Structural Anomalies
Open this publication in new window or tab >>Maternal Obesity and Detection Rate of Fetal Structural Anomalies
2013 (English)In: Fetal Diagnosis and Therapy, ISSN 1015-3837, E-ISSN 1421-9964, Vol. 33, no 4, 246-251 p.Article in journal (Refereed) Published
Abstract [en]

Objective: To estimate the effects of maternal body mass index (BMI) on the sensitivity of detecting fetal anomalies by a routine ultrasound performed either in the first or in the second trimester. Methods: Unselected pregnant women (n = 19,140) were divided into four BMI groups: underweight (less than18.5), normal weight (18.5-24.9, reference group), overweight (25.0-29.9), and obese (greater than= 30.0). Fetal anomaly diagnoses were grouped according to their likely clinical consequences as suggested by the Royal College of Obstetricians and Gynaecologists. Minor anomalies were excluded. The detection rate of fetal anomalies in each BMI group was calculated and compared. Results: The prevalence of infants with structural anomalies in the study population was 4% and the prevalence of material obesity was 10%. The detection rates of fetal structural anomalies were 26% for normal-weight, 29% for overweight (odds ratio (OR) 1.15,95% confidence interval (Cl) 0.68-1.95), and 19% for obese women (OR 0.67, 95% Cl 0.29-1.52). The detection rate of anomalies with long-term handicap was lower in the obese group (27.3%; OR 0.44, 95% Cl 0.11-1.79) compared to normal-weight women (46.3%). Conclusion: The detection rate of fetal anomalies seems to be lower for obese women, but these findings need to be further investigated.

Place, publisher, year, edition, pages
Karger, 2013
Keyword
Pregnancy; Obesity; Fetal anomalies; Anomaly scan; Body mass index
National Category
Medical and Health Sciences
Identifiers
urn:nbn:se:liu:diva-96503 (URN)10.1159/000343219 (DOI)000319854500007 ()
Available from: 2013-08-23 Created: 2013-08-20 Last updated: 2017-12-06
3. Impact of a standardized training program on midwive’s ability to assess fetal heart anatomy by ultrasound
Open this publication in new window or tab >>Impact of a standardized training program on midwive’s ability to assess fetal heart anatomy by ultrasound
Show others...
2014 (English)In: BMC Medical Imaging, ISSN 1471-2342, E-ISSN 1471-2342, Vol. 14, no 20Article in journal (Refereed) Published
Abstract [en]

Background: Studies of prenatal detection of congenital heart disease (CDH) in the UK, Italy, and Norway indicate that it should be possible to improve the prenatal detection rate of CDH in Sweden. These studies have shown that training programs, visualization of the outflow tracts and color-Doppler all can help to speed up and improve the detection rate and accuracy. We aimed to introduce a more accurate standardized fetal cardiac ultrasound screening protocol in Sweden.

Methods: A novel pedagogical model for training midwives in standardized cardiac imaging was developed, a model using a think-aloud analysis during a pre- and post-course test and a subsequent group reflection. The self-estimated difficulties and knowledge gaps of four midwives were identified. A two-day course with mixed lectures, demonstrations and handson sessions was followed by a feedback session one month later consisting of an interview and check-up. The long-term effects were tested two years later.

Results: At the post-course test the self-assessed uncertainty was lower than at the pre-course test. The qualitative evaluation showed that the color Doppler images were difficult to interpret, but the training seems to have enhanced the familiarity with the new technique. The ability to perform the method remained at the new level at follow-up both three months and two years later.

Conclusions: Our results indicate that by implementing new imaging modalities and providing hands-on training, uncertainty can be reduced and time decreased, but they also show that continuous on-site training with clinical and technical back-up is important.

Keyword
Color Doppler, Congenital heart disease, Detection of congenital heart defects, Fetal heart scanning, Learning program, Prenatal cardiology, Second trimester screening, Standardized training program, Ultrasound screening
National Category
Other Clinical Medicine Obstetrics, Gynecology and Reproductive Medicine
Identifiers
urn:nbn:se:liu:diva-104181 (URN)10.1186/1471-2342-14-20 (DOI)000336853200001 ()
Available from: 2014-02-10 Created: 2014-02-10 Last updated: 2017-12-06Bibliographically approved
4. Maternal obesity and risk of Down syndrome in the offspring
Open this publication in new window or tab >>Maternal obesity and risk of Down syndrome in the offspring
Show others...
2014 (English)In: Prenatal Diagnosis, ISSN 0197-3851, E-ISSN 1097-0223, Vol. 34, no 4, 310-315 p.Article in journal (Refereed) Published
Abstract [en]

OBJECTIVE: The objective of this article is to determine if maternal obesity is associated with an increased risk of Down syndrome in the offspring and whether the risk estimates for trisomy 21 based on combined screening is affected by maternal body mass index (BMI).

METHODS: Study group I consisted of a nationwide cohort of 168 604 women giving birth; outcome was infants born with Down syndrome. Adjustment was made for maternal age. Study group II consisted of 10 224 women undergoing 1st trimester combined screening. Outcome was risk assessment for Down syndrome. All women were divided into six BMI groups, and outcomes were evaluated over the BMI strata with BMI 18.5 to 24.9 as reference and correcting for maternal age.

RESULTS: Obese women had an increased risk for giving birth to an infant with Down syndrome compared with normal-weight women, BMI 30 to 34.9 odds ratio (OR) 1.31 [95% confidence interval (CI) 1.10-1.55], BMI 35 to 39.9 OR 1.12 (95% CI 0.82-1.53), BMI ≥ 40 OR 1.56 (95% CI 1.00-2.43). The observed and the expected numbers of women with a risk of Down syndrome >1/300 based on 1st trimester combined screen and maternal age were similar in each BMI group.

CONCLUSION: Maternal obesity seems to increase the risk for Down syndrome births. The risk estimate for Down syndrome with 1st trimester combined screening is unaffected by BMI. © 2013 John Wiley & Sons, Ltd.

Place, publisher, year, edition, pages
John Wiley & Sons, 2014
National Category
Other Clinical Medicine Obstetrics, Gynecology and Reproductive Medicine
Identifiers
urn:nbn:se:liu:diva-103996 (URN)10.1002/pd.4294 (DOI)000334443000002 ()24327477 (PubMedID)
Available from: 2014-02-05 Created: 2014-02-05 Last updated: 2017-12-06Bibliographically approved

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