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Region Hovedstaden - en del af Københavns Universitetshospital
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Population-Based Screening for Trisomies and Atypical Chromosomal Abnormalities: Improving Efficacy using the Combined First Trimester Screening Algorithm as well as Individual Risk Parameters

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Prediction of Preeclampsia in Nulliparous Women according to First Trimester Maternal Factors and Serum Markers

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

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

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

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  1. Multivitamin use and risk of preeclampsia in a high-income population: A cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Alcohol intake in early pregnancy and spontaneous preterm birth: a cohort study

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  • The Danish Fetal Medicine Study Group, and the Danish Cytogenetic Study Group
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AIM: To examine the performance of the combined First Trimester Screening (cFTS) algorithm when outliers of 4 risk parameters (maternal age, nuchal translucency (NT) thickness, PAPP-A and β-hCG) were included in the classification of "high-risk".

METHODS: A retrospective analysis of singleton pregnancies undergoing cFTS between 2008 and 2011 in Denmark. Abnormal karyotypes were classified as trisomy 21 (T21), trisomy 13 (T13) and trisomy 18 (T18), sex chromosome aberrations and atypical abnormal karyotypes.

RESULTS: cFTS was completed in 193,638 pregnancies. In 10,205 (5.3%) cases, cytogenetic or molecular analysis was performed pre- or postnatally. An abnormal karyotype was seen in 1,122 (11.0%). The algorithm identified 87% of T21, 80% of T13, 75% of T18, 79% of sex chromosome aberrations and 35% of atypical abnormal karyotypes. Additional classification of a single risk parameter outlier (low PAPP-A or free β-hCG (< 0.2 MoMs), high β-hCG (≥5.0 MoMs), maternal age ≥45 years or NT ≥3.5 mm) as being at high-risk would have improved detection rates to 88, 80, 81, 81 and 37% respectively. The screen positive rate increased from 4.4 to 4.8%.

DISCUSSION: Addition of outliers of the 4 parameters used in cFTS algorithm will lead to a statistically significant increase in detection rates for chromosomal abnormality.

OriginalsprogEngelsk
TidsskriftFetal Diagnosis and Therapy
Vol/bind45
Udgave nummer6
Sider (fra-til)424-429
Antal sider6
ISSN1015-3837
DOI
StatusUdgivet - 2019

ID: 56141545