1. Parental Decisions about Prenatal Screening and Diagnosis among Infants with Trisomy 21 in a National Cohort with High Uptake of Combined First-Trimester Screening
- Author
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Miltoft, Caroline Borregaard, Wulff, Camilla B, Kjærgaard, Susanne, Ekelund, Charlotte K., Tabor, Ann, Zingenberg, Helle, Jørgensen, Finn Stener, Shalmi, Anne-Cathrine, Thagaard, Ida Näslund, Skibsted, Lillian, Hessellund, Anette, Sperling, Lene Søndergaard, Mogensen, Helle, Ibsen, Mette, Brendstrup, Lene, Petersen, Olav Bjørn, Jensen, Hanne Søndergaard, Vase, Laura, Østergaard, Marianne, Kamper, Christina H., Sørensen, Anne, and Størup, Birgitte
- Subjects
Adult ,Parents ,First trimester ,Embryology ,medicine.medical_specialty ,Down syndrome ,Trisomy 21 ,Referral ,Denmark ,Population ,Decision Making ,Prenatal diagnosis ,Pregnancy termination ,Pregnancy outcome ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,Pregnancy ,Prenatal Diagnosis ,Diagnosis ,medicine ,Humans ,Radiology, Nuclear Medicine and imaging ,030212 general & internal medicine ,Registries ,education ,education.field_of_study ,030219 obstetrics & reproductive medicine ,business.industry ,Obstetrics ,Chromosomal abnormalities ,Obstetrics and Gynecology ,Prenatal screening ,General Medicine ,medicine.disease ,Pregnancy Trimester, First ,Population Surveillance ,Pediatrics, Perinatology and Child Health ,Screening ,Female ,Down Syndrome ,Trisomy ,business ,Risk assessment ,Cohort study - Abstract
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.
- Published
- 2017