First trimester screening for Trisomy 21 in Denmark: Implications on detection and birth rates of Trisomy 18 and Trisomy 13

Charlotte Kvist Ekelund, Olav Bjørn Petersen, Lillian Skibsted, Susanne Kjaergaard, Ida Vogel, Ann Tabor, The Danish Fetal Medicine Research Group, Peter Skovbo

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41 Citations (Scopus)

Abstract

OBJECTIVES:: In Denmark a new national guideline for prenatal screening and diagnosis was issued in 2004 according to which all pregnant women should be offered a first trimester combined risk assessment for Trisomy 21 (T21). The aim of this study was to investigate whether the new screening strategy for T21 has changed the gestational age at which Trisomy 18 (T18) and Trisomy 13 (T13) are diagnosed prenatally, and the number of infants born with T18 or T13. METHODS:: We collected information on all prenatal and postnatal chromosome analyses with T18 or T13 registered from 1997 to 2007 from the Danish Cytogenetic Central Register. Information on first trimester screening results was collected from each department of obstetrics and gynecology performing the nuchal translucency scans. The cut-off used for referral to invasive diagnostic testing for T21 and T18/T13 was 1:300 and 1:150 at screening, respectively. RESULTS:: In total there were 435 cases diagnosed with T18 and 168 cases of T13 between 1997 and 2007 in Denmark. The estimated incidence of T18 and T13 at time of delivery was calculated as 2.5 and 1.6 per 10 000 deliveries respectively.The number (proportion) of cases diagnosed before week 18 increased significantly, from 63 (59.4%) in 1997 and 1998 to 90 (80.4%) in 2006 and 2007 (p
Original languageEnglish
Volume38
Pages (from-to)140-4
DOIs
Publication statusPublished - 12 Jan 2011
Externally publishedYes

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