scholarly journals VP10.02: The prenatal detection rate of orofacial clefts in Denmark from 2009–2018

2021 ◽  
Vol 58 (S1) ◽  
pp. 130-131
Author(s):  
F.H. Sander ◽  
D.E. Jørgensen ◽  
O.B. Petersen ◽  
C. Vedel
Keyword(s):  
Detection Rate ◽  
Orofacial Clefts ◽  
Prenatal Detection ◽  
Prenatal Detection Rate

scholarly journals Ultrasound in Prenatal Diagnostics and Its Impact on the Epidemiology of Spina Bifida in a National Cohort from Denmark with a Comparison to Sweden

2018 ◽  
Vol 2018 ◽  
pp. 1-8 ◽  
Author(s):  
Charlotte Rosenkrantz Bodin ◽  
Mikkel Mylius Rasmussen ◽  
Ann Tabor ◽  
Lena Westbom ◽  
Eleonor Tiblad ◽  
...  
Keyword(s):  
Spina Bifida ◽  
Pregnancy Outcome ◽  
Detection Rate ◽  
Normal Karyotype ◽  
International Classification Of Diseases ◽  
Ultrasound Screening ◽  
Fetal Diagnosis ◽  
Prenatal Detection ◽  
National Cohort ◽  
Prenatal Detection Rate

Objectives. The aim of this study was to assess the incidence, the prenatal detection rate by ultrasound, and the pregnancy outcome of spina bifida (SB) in Denmark (DK) in 2008–2015 and to compare results to national data from Sweden. Methods. Data were retrieved from the Danish Fetal Medicine Database, which includes International Classification of Diseases- (ICD-) 10 codes for pre- or postnatally diagnoses and pregnancy outcome. Missing data were obtained from the National Patient Register. Livebirth data with myelomeningocele (MMC) in Sweden were obtained from different databases. Results. There were 234 cases with SB in DK in 2008–2015. The incidence of SB was 4.9 : 10,000; 89% were detected with ultrasound prior to week 22; 90% of these pregnancies were terminated (ToP); 91% were isolated malformations of which 11% showed abnormal karyotype. The incidence of newborns with MMC was 1.3 : 10,000 in Sweden. Conclusions. Ultrasound screening has a major impact on the epidemiology of SB. The prenatal detection rate of SB was high, and most SB cases were isolated and had a normal karyotype. Among women with a prenatal fetal diagnosis of SB, 90% chose to have ToP. The incidence of newborns with SB was higher in Sweden than in DK.

scholarly journals Esophageal obstruction—prenatal detection rate and outcome

2007 ◽  
Vol 30 (2) ◽  
pp. 180-187 ◽  
Author(s):  
A. Brantberg ◽  
H-G. K. Blaas ◽  
S. E. Haugen ◽  
S. H. Eik-Nes
Keyword(s):  
Detection Rate ◽  
Esophageal Obstruction ◽  
Prenatal Detection ◽  
Prenatal Detection Rate

scholarly journals Good prenatal detection rate of major birth defects in HIV-infected pregnant women in Italy

2015 ◽  
Vol 35 (13) ◽  
pp. 1374-1378 ◽  
Author(s):  
M. Floridia ◽  
P. Mastroiacovo ◽  
M. Ravizza ◽  
T. Todros ◽  
M. Chiadò Fiorio Tin ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Birth Defects ◽  
Detection Rate ◽  
Prenatal Detection ◽  
Prenatal Detection Rate

Low prenatal detection rate of valvar pulmonary stenosis: What are we missing?

2020 ◽  
Vol 40 (8) ◽  
pp. 966-971
Author(s):  
Christina Ronai ◽  
Lindsay R. Freud ◽  
David W. Brown ◽  
Wayne Tworetzky
Keyword(s):  
Detection Rate ◽  
Pulmonary Stenosis ◽  
Prenatal Detection ◽  
Valvar Pulmonary Stenosis ◽  
Prenatal Detection Rate

scholarly journals Pentalogy of Cantrell: six new cases

2009 ◽  
Vol 150 (45) ◽  
pp. 2068-2073 ◽  
Author(s):  
Barbara Pete ◽  
Júlia Hajdú ◽  
Ágnes Harmath ◽  
Zsolt Csapó ◽  
Csaba Papp ◽  
...  
Keyword(s):  
Abdominal Wall ◽  
Diaphragmatic Hernia ◽  
Detection Rate ◽  
Abdominal Wall Defect ◽  
Ectopia Cordis ◽  
Pentalogy Of Cantrell ◽  
Wall Defect ◽  
Prenatal Detection ◽  
Cantrell's Pentalogy ◽  
Prenatal Detection Rate

Cantrell’s pentalogy is a rare multiple malformation syndrome consisting of supraumbilical abdominal wall defect, sternal defect, pericardial defect, anterior diaphragmatic defect and heart malformation. Aims and methods: Prenatal ultrasound findings and malformations described during autopsy of the Cantrell’s pentalogy cases diagnosed between January 1991 and June 2009 in our institute were reviewed. A literature research was conducted to analyze the prevalence and prenatal detection rate of the five previously described malformations and ectopia cordis in the Cantrell’s pentalogy cases. Results: Six cases of Cantrell’s pentalogy were diagnosed during the study period in our department. Sonography detected multiple malformations in 3 cases, and isolated malformation in 3 cases. Analyzing the data of 49 Cantrell’s pentalogy cases altogether showed that, beside abdominal wall defect and ectopia cordis which had the highest prenatal detection rate (83% and 91% with a prevalence of 94% and 69%, respectively), sternal defect and anterior diaphragmatic hernia were also present in a large number of the cases (80% and 73% respectively). Conclusion: Sonographic identification of the sternal defect or diaphragmatic hernia may help to differentiate Cantrell’s pentalogy from malformations part of the syndrome but occurring as isolated defects.

scholarly journals Impact of a Regional Screening Programme Using Maternal Serum a Fetoprotein (AFP) and Human Chorionic Gonadotrophin (hCG) on the Birth Incidence of Down's Syndrome in the West of Scotland

1994 ◽  
Vol 1 (3) ◽  
pp. 180-183 ◽  
Author(s):  
Jennifer A Crossley ◽  
David A Aitken ◽  
Esther Berry ◽  
J Michael Connor
Keyword(s):  
High Risk ◽  
Detection Rate ◽  
Risk Group ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
High Risk Group ◽  
Biochemical Screening ◽  
The West ◽  
Prenatal Detection ◽  
Prenatal Detection Rate

To evaluate the impact of a large scale population screening programme on the birth incidence of Down's syndrome in the west of Scotland over a 12 month period. Biochemical screening for Down's syndrome using maternal serum α fetoprotein, chorionic gonadotrophin, and maternal age was offered to a pregnant population of 37 226 women in the west of Scotland between 1991 and 1992. The combined risk of Down's syndrome pregnancy was reported for each of the 30 084 women who opted for screening. Results — When a threshold risk of 1:220 was used 1523 women (5.1% of the screened population) were assigned to the high risk group, of whom 1070 (70%) proceeded to diagnostic ammiocentesis or midtrimester chorionic villus sampling. When multiple sources of ascertainment were used 37 Down's syndrome pregnancies were identified within the screened population, 26 (70%) of which were within the high risk group and 21 (57%) of which were prenatally diagnosed. In addition, three Down's syndrome pregnancies were diagnosed by first trimester chorionic villus sampling before biochemical screening. A further 10 Down's syndrome pregnancies were identified at birth, eight to women who had not had a screening test and two to women who had moved into the area, making a total of 50 Down's syndrome pregnancies in the whole pregnant population of 37 226. Thus the potential prenatal detection rate in the screened population was 70% (26/37), the actual prenatal detection rate in the screened population was 57% (21/37), and the overall prenatal detection rate in the total (screened and unscreened) population was 48% (24/50). Biochemical screening for Down's syndrome is practical and effective in routine clinical practice, enabling women to make an informed choice about prenatal diagnosis and providing better use of scarce resources when a suitable protocol is applied to the whole pregnant population. Its maximum potential for the reduction of the birth incidence of Down's syndrome is limited by incomplete uptake of screening and compliance with diagnostic testing in the high risk group.

scholarly journals Epidemiology of Multiple Congenital Anomalies Before and After Implementation of a Nationwide Prenatal Screening Program in Denmark

2021 ◽  
Vol 9 ◽  
Author(s):  
Marlene E. Toxværd ◽  
Ester Garne
Keyword(s):  
Congenital Anomalies ◽  
Detection Rate ◽  
Screening Program ◽  
Multiple Congenital Anomalies ◽  
Genetic Syndrome ◽  
Prenatal Detection ◽  
Single Defect ◽  
Organ Systems ◽  
Before And After ◽  
Prenatal Detection Rate

Surveillance of congenital anomalies is important in order to detect negative influences from environment, medication, or lifestyle as early as possible. Since most teratogens are associated with a spectrum of birth defects rather than a single defect, analysis of the epidemiology of multiple congenital anomalies is important to detect an increase due to environmental or medicine exposure. The aim of the study was to describe changes in prevalence, types of anomalies, and outcome of pregnancies for fetuses and infants with multiple congenital anomalies before and after introduction of the new screening program in the County of Funen, Denmark. The study was based on data from the EUROCAT registry of the County of Funen for the period 1990 to 2014 covering 135,057 births. The registry includes information about livebirths, fetal deaths after 20 weeks of gestation and terminations of pregnancy after prenatal diagnosis of fetal anomalies. All cases with two or more major congenital anomalies in different organ systems, where the pattern of anomalies were not recognized as part of a chromosomal or genetic syndrome or a sequence were included in the study. Overall prevalence of multiple congenital anomalies was 19.7 per 10,000 pregnancies. There was no significant change in prevalence over time. The prenatal detection rate increased from 26 to 57% after introduction of the screening program (p < 0.001). Proportion of terminations of pregnancy increased from 11 to 30% of all cases and 1-week survival for livebirths increased from 64 to 94%. There was no change in combinations of involved organ systems. The implementation of the new screening program in 2004 has led to an increased prenatal detection rate of multiple congenital anomalies followed by an increased rate of termination of pregnancy for the most severe cases and an increased 1-week survival for liveborn infants with multiple congenital anomalies.

Sign in / Sign up

Export Citation Format

Share Document