Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

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

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Cell-Free Fetal DNA in the Early and Late First Trimester

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Short-Term Flow Changes in Monochorionic Survivor Twins after Ultrasound-Guided Umbilical Cord Occlusion

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Magnetic Resonance Imaging: A New Tool to Optimize the Prediction of Fetal Anemia?

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Multivitamin intake does not affect the risk of preterm and very preterm birth

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Current use of noninvasive prenatal testing in Europe, Australia and the USA: A graphical presentation

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Implementation of exome sequencing in fetal diagnostics - data and experiences from a tertiary center in Denmark

    Research output: Contribution to journalJournal articleResearchpeer-review

View graph of relations

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.

Original languageEnglish
JournalFetal Diagnosis and Therapy
Volume41
Issue number3
Pages (from-to)209-214
ISSN1015-3837
DOIs
Publication statusPublished - Apr 2017

ID: 49586420