First- and Second-Trimester Screening: Detection of Aneuploidies Other Than Down Syndrome  

Oleh:

Breathnach, Fionnuala M. ; Malone, Fergal D. ; Lambert-Messerlian, Geralyn ; Cuckle, Howard S. ; Porter, T. Flint ; and Others

Jenis: Article from Journal - ilmiah internasional
Dalam koleksi: Obstetrics and Gynecology vol. 110 no. 03 (Sep. 2007), page 651.

Ketersediaan

Perpustakaan FK Nomor Panggil: O01.K.2007.03 Non-tandon: 1 (dapat dipinjam: 0) Tandon: tidak ada

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Isi artikel

OBJECTIVE: To evaluate the performance of first- and second-trimester screening methods for the detection of aneuploidies other than Down syndrome. METHODS: Patients with singleton pregnancies at 10 weeks 3 days through 13 weeks 6 days of gestation were recruited at 15 U.S. centers. All patients had a first-trimester nuchal translucency scan, and those without cystic hygroma had a combined test (nuchal translucency, pregnancy-associated plasma protein A, and free ß-hCG) and returned at 15–18 weeks for a second-trimester quadruple screen (serum alpha-fetoprotein, total hCG, unconjugated estriol, and inhibin-A). Risk cutoff levels of 1:300 for Down syndrome and 1:100 for trisomy 18 were selected. RESULTS: Thirty-six thousand one hundred seventy-one patients completed first-trimester screening, and 35,236 completed second-trimester screening. There were 77 cases of non–Down syndrome aneuploidies identified in this population; 41 were positive for a cystic hygroma in the first trimester, and a further 36 had a combined test, of whom 29 proceeded to quadruple screening. First-trimester screening, by cystic hygroma determination or combined screening had a 78% detection rate for all non–Down syndrome aneuploidies, with an overall false-positive rate of 6.0%. Sixty-nine percent of non–Down syndrome aneuploidies were identified as screen-positive by the second-trimester quadruple screen, at a false-positive rate of 8.9%. In the combined test, the use of trisomy 18 risks did not detect any additional non–Down syndrome aneuploidies compared with the Down syndrome risk alone. In second-trimester quadruple screening, a trisomy 18–specific algorithm detected an additional 41% non–Down syndrome aneuploidies not detected using the Down syndrome algorithm. CONCLUSION: First-trimester Down syndrome screening protocols can detect the majority of cases of non-Down aneuploidies. Addition of a trisomy 18–specific risk algorithm in the second trimester achieves high detection rates for aneuploidies other than Down syndrome.

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