The Danish Fetal Medicine Database: establishment, organization and quality assessment of the first trimester screening program for trisomy 21 in Denmark 2008–2012

Ekelund, Charlotte Kvist; Petersen, Olav Bjørn; Jørgensen, Finn Stener; Kjærgaard, Susanne; Larsen, Torben; Olesen, Arne Vestergaard; Skibsted, Lillian; Skovbo, Peter; Sommer, Steffen; Sperling, Lene; Stavnstrup, Benedicte; Størup, Birgitte; Zingenberg, Helle; Uldbjerg, Niels; Miltoft, Caroline Borregaard; Noergaard, Lasse; Wulff, C. B.; Tabor, Ann

doi:10.1111/aogs.12581

Cited by 58 publications

(60 citation statements)

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“…Infants with T21 were identified by obtaining information on women with cFTS from July 1, 2008 to June 30, 2012 from the Danish Fetal Medicine Database. Since January 1, 2008, information from cFTS has been collected in the Danish Fetal Medicine Database and linked with karyotype results from the Danish Cytogenetic Central Register (DCCR), as well as pregnancy outcomes and diagnoses from the Danish Patient Register by each woman's personal civil registration number [10] . All chromosomal analyses (prenatal, termination and postnatal) performed in Denmark are registered in the DCCR.…”

Section: Methodsmentioning

confidence: 99%

“…These invasive testing procedures have previously been reported to carry a risk of miscarriage of up to 1% [5][6][7] , but recent studies indicate the risk is probably much lower [8,9] . The combined first-trimester screening (cFTS) for T21 has a detection rate of about 90% for a false-positive rate of about 5% [10] . The impact of any screening policy depends on the uptake of both the screening test, the diagnostic test, and with first-trimester screening, the decision of whether to terminate an affected pregnancy.…”

Section: Introductionmentioning

confidence: 99%

“…These factors influence the number of live-born infants with T21. The uptake of cFTS in Denmark is more than 90% [10] and both the number of invasive tests and of live-born infants with T21 decreased by about 50% when cFTS was introduced [11] . However, to our knowledge it has not been investigated after what level of decisionmaking in prenatal testing and diagnosis infants with T21 are being born.…”

Section: Introductionmentioning

confidence: 99%

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Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

et al. 2016

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Introduction: The aim was to investigate the parental decisions about prenatal screening and diagnosis among infants with trisomy 21 (T21) in a national cohort with high uptake of combined first-trimester screening (cFTS). Material and Methods: This was a nationwide population-based study including infants born in 2009-2012. Information from the cFTS, fetal karyotype results and pregnancy outcome was obtained from the Danish Fetal Medicine Database on all women with a cFTS risk assessment. Cut-off for referral for invasive testing was ≥1:300. Karyotype results from pregnancies with no cFTS were obtained from the Danish Cytogenetic Central Registry. Results: The uptake rate of cFTS was 91.6%, and 82.8% (8,032/9,704) of the screen-positive women opted for invasive testing. Overall, 82.2% (454/552) chose to terminate an affected pregnancy. In the 4-year period, 102 of 232,962 singletons were born alive with T21. The cFTS risk was true-positive, false-negative or not obtained in 21.6, 48.0 and 30.4%, respectively, of these pregnancies. Discussion: In this large national cohort, 4.4 per 10,000 live-born infants had T21. Of 102 infants with T21 from 2009 to 2012, 52.0% were born after the women had not opted for cFTS or were true-positive but declined invasive testing or termination, and 48.0% were born after a false-negative risk assessment.

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Section: Methodsmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

et al. 2016

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“…The first-trimester screening results in Denmark in 2008–2013 have been published in a paper which also provides more detailed information about the database establishment and organization and thus serves as a reference paper for future research based on the database data 4. Due to the large amount of population-based data in the database, it has enabled us to study rare outcomes, such as rare chromosomal abnormalities and other adverse outcomes in both singleton and twin pregnancies 5–8.…”

Section: Examples Of Researchmentioning

confidence: 99%

The Danish Fetal Medicine Database

Ekelund¹,

Kopp²,

Tabor³

et al. 2016

CLEP

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AimThe aim of this study is to set up a database in order to monitor the detection rates and false-positive rates of first-trimester screening for chromosomal abnormalities and prenatal detection rates of fetal malformations in Denmark.Study populationPregnant women with a first or second trimester ultrasound scan performed at all public hospitals in Denmark are registered in the database.Main variables/descriptive dataData on maternal characteristics, ultrasonic, and biochemical variables are continuously sent from the fetal medicine units’ Astraia databases to the central database via web service. Information about outcome of pregnancy (miscarriage, termination, live birth, or stillbirth) is received from the National Patient Register and National Birth Register and linked via the Danish unique personal registration number. Furthermore, results of all pre- and postnatal chromosome analyses are sent to the database.ConclusionIt has been possible to establish a fetal medicine database, which monitors first-trimester screening for chromosomal abnormalities and second-trimester screening for major fetal malformations with the input from already collected data. The database is valuable to assess the performance at a regional level and to compare Danish performance with international results at a national level.

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“…Most previous studies on the subject report data from cohorts with no public first‐trimester scan for pregnancy dating and risk assessment for aneuploidy preceding second‐trimester anomaly screening. In Denmark, more than 90% of pregnant women participate in both first‐ and second‐trimesters screening . Hence, an assessment of the relation between small HC and pregnancy outcome in a population with high participation in first‐trimester risk assessment is warranted.…”

Section: Introductionmentioning

confidence: 99%

Second‐trimester fetal head circumference in more than 350 000 pregnancies: Outcome and suggestion for sex‐dependent cutoffs for small heads

et al. 2019

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Objective To explore the relationship between small fetal second‐trimester head circumference (HC) and pregnancy outcome and identify a cutoff point for offering genetic testing. Method Data from second‐trimester scans in Denmark were linked to national registers. Fetuses with anomalies diagnosed before this scan were excluded. Fetuses were grouped according to HC z‐score. Results We included 352 515 singleton fetuses. The mean HC was significantly larger among males than among females with z‐scores averaging 0.52 more in males. Small HC was associated with chromosomal anomaly, malformations of the CNS and heart, miscarriage/perinatal death, termination, preterm delivery, and intrauterine growth restriction (test for trend: P < .001 for all outcomes). Fetuses in the group with z‐score less than –3 had the highest incidence of adverse outcome, irrespective of fetal sex. In the groups with z‐scores between –3 and –2.5, and between –2.5 and –2, risk of adverse outcome was lower for females than males for all outcome categories. Conclusion Small HC in second trimester is a prognostic marker for adverse outcome. The smaller the HC, the higher the risk of adverse outcome. We suggest an HC cutoff point of –2 SD for males and –2.5 SD for females for offering genetic testing.

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The Danish Fetal Medicine Database: establishment, organization and quality assessment of the first trimester screening program for trisomy 21 in Denmark 2008–2012

Abstract: A national fetal medicine database has been successfully established in Denmark. Results from the database have shown that at a national level first-trimester screening performance for trisomy 21 is high with a low screen-positive rate and a high detection rate.

Cited by 58 publications

References 6 publications

Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening

The Danish Fetal Medicine Database

Second‐trimester fetal head circumference in more than 350 000 pregnancies: Outcome and suggestion for sex‐dependent cutoffs for small heads

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