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The NT plus method of screening for Down syndrome: achieving the 2010 targets?
Author(s) -
Habayeb Osama,
Goodburn Sandy,
Chudleigh Trish,
Brockelsby Jeremy,
MissfelderLobos Hannah,
Hackett Gerald,
Lees Christoph
Publication year - 2010
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.2488
Subject(s) - trisomy , medicine , down syndrome , false positive rate , pregnancy associated plasma protein a , aneuploidy , nuchal translucency , obstetrics , fetus , pregnancy , gynecology , first trimester , biology , genetics , mathematics , statistics , chromosome , psychiatry , gene
The performance of pregnancy‐associated plasma protein‐A (PAPP‐A) as a first trimester trisomy 21 marker is hypothesized to improve below 11 weeks, whereas β‐human chorionic gonadotrophin (hCG) is better after 14 weeks. We audited a model combining early PAPP‐A (9–10 weeks) with NT (11–13 weeks and 6 days) and early triple test (>14 weeks). Methods A total of 1507 women with viable ongoing pregnancies were screened during 2007–2008. First‐stage ‘screen‐positive’ risk was based on combined PAPP‐A and NT cut‐off ≥1 : 100. Where first‐stage risk was <1 : 100 or invasive testing declined, triple test was performed and a combined second‐stage risk given with cut‐off ≥1 : 250 being screen positive. Results Median age of women was 35.4 years. Sixty‐four (4.2%) were ‘screen positive’. Of these, 11 had a fetus with trisomy 21. Twelve pregnancies were affected with trisomy 21, giving a detection rate of 11/12 (92%) with a false‐positive rate (FPR) of 3.2%. The screen‐positive rate (SPR) and FPR were 1.93 and 1.44%, respectively, standardized to median maternal age 29. Conclusions Early PAPP‐A, NT and later triple testing offers comparable detection for trisomy 21 to published data for first trimester combined testing but feasibly achieve the national target for 2010 of 90% detection of trisomy 21 for < 2% SPR. Copyright © 2010 John Wiley & Sons, Ltd.