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First- and second-trimester screening: detection of aneuploidies other than Down syndrome

, : First- and second-trimester screening: detection of aneuploidies other than Down syndrome. Obstetrics and Gynecology 110(3): 651-657

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 beta-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.


PMID: 17766613

DOI: 10.1097/01.AOG.0000278570.76392.a6

Other references

Francis, Charles M., 1995: First records in Peninsular Malaysia of two species of spectacular orange bats from Temengor, Hulu Perak, Malaysia. Two species of vespertilionid bats, Myotis hermani and Harpiocephalus mordax, are recorded from Peninsular Malaysia for the first time. Their relationships to related species are discussed.

Uvarov, B.P., 1929: North Caucasian species of the genus Paradry-madusa Herm. (Orthoptera, Tettigoniidae) and their zoogeographical importance. Annu Mus Zool Leningrad, 30: 331-337

Menezes, Paulo, R., 2000: Prognostico da esquizofrenia. Revista Brasileira de Psiquiatria 22(Suplemento 1): 18-20

Bernhard, K.A.; Siddiqui, D.S.; Leonard, K.M.; Chauhan, S.P., 2015: American college of obstetricians and gynecologists practice bulletins: ascertaining their citation, influence, and utilization. To ascertain the influence and utilization of the American College Obstetricians and Gynecologists practice bulletins (PBs) by measuring their citations in three different search tools. PBs in obstetrics (OB-PBs) and gynecology (GYN-PBs) published...

Pochatov-Yu, M.; Raevskii, K.S., 1977: The effect of aza butyrone and its analogs on catecholamine metabolism in the rat brain. The action of the neuroleptic azabutyrone and its analogs on the accumulation and disappearance of 3H-norepinephrine and 3H-dopamine was studied using 3H-tyrosine, a tagged catecholamine precursor. Azabutyrone increased the dopamine and norepineph...

Kennedy, E.T., 2005: The global face of nutrition: what can governments and industry do?. Investment in agricultural research and major developments in the technology of food production have led to dramatic increases in food availability, not only in industrialized nations but also across the globe. In addition, significant gains in im...

Wang, H.; Peskin, C.S.; Elston, T.C., 2003: A robust numerical algorithm for studying biomolecular transport processes. We present a numerical algorithm that is well suited for the study of biomolecular transport processes. In the algorithm a continuous Markov process is discretized as a jump process and the jump rates are derived from local solutions of the contin...

Littlefield C.H., 1984: When a child dies differential within family grief intensity. Behavior Genetics 14(6): 607

Eaton, D.; Rodriguez, H.; Vehar, G.A., 1986: Proteolytic processing of human factor VIII. Correlation of specific cleavages by thrombin, factor Xa, and activated protein C with activation and inactivation of factor VIII coagulant activity. Human factor VIII was isolated from commercial factor VIII concentrates and found to consist of multiple polypeptides with molecular weights ranging from 80 000 to 210 000. Immunological and amino acid sequence data identified these polypeptides a...

Hamberger, L.K.; Hastings, J.E., 1986: Irrational beliefs underlying type A behavior: evidence for a cautious approach. A number of studies have demonstrated relationships between various self-endorsed "irrational beliefs" and Type A coronary-prone behavior in young, healthy college student samples and in healthy, middle-management executives. The present...