Accuracy of Down syndrome risks produced in a first-trimester screening programme incorporating fetal nuchal translucency thickness and maternal serum biochemistry

被引:20
|
作者
Spencer, K [1 ]
机构
[1] Harold Wood Hosp, Dept Clin Biochem, Endocrine Unit, Romford RM3 0BE, Essex, England
关键词
trisomy; 21; prenatal screening; free beta-hCG; PAPP-A;
D O I
10.1002/pd.312
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Over the past three years approximately 12 000 women have been screened in the first trimester through Our OSCAR programme, which utilizes fetal NT and maternal serum free beta-hCG and PAPP-A. During this time 30 cases of Down syndrome were identified either prenatally or postnatally. Using an established procedure the accuracy of predicted risk for Down syndrome was assessed in a population of 30 cases of Down syndrome and 11 758 unaffected pregnancies. The correlation between predicted risk and prevalence of Down syndrome was very high (r=0.9995). It is concluded that risks produced by the Fetal Medicine Foundation combined risk algorithm agree very closely with Down syndrome prevalence and can be used With confidence when counselling women of their risk. Copyright (C) 2002 John Wiley Sons. Ltd.
引用
收藏
页码:244 / 246
页数:3
相关论文
共 50 条
  • [41] Extended First-Trimester Screening Using Multiple Sonographic Markers and Maternal Serum Biochemistry: A Five-Year Prospective Study
    Hsiao, Ching-Hua
    Cheng, Po-Jen
    Shaw, S. W. Steven
    Hsu, Jenn-Jeih
    Chen, Ran-Chou
    Tseng, Yin-Jiun
    Chu, Woei-Chyn
    FETAL DIAGNOSIS AND THERAPY, 2014, 35 (04) : 296 - 301
  • [42] Performance of first-trimester combined test for Down syndrome in different maternal age groups: reason for adjustments in screening policy?
    Engels, Melanie A. J.
    Heijboer, A. C.
    Blankenstein, Marinus A.
    van Vugt, John M. G.
    PRENATAL DIAGNOSIS, 2011, 31 (13) : 1241 - 1245
  • [43] Screening for trisomy 21 based on maternal age, nuchal translucency measurement, first trimester biochemistry and quantitative and qualitative assessment of the flow in the DV - the assessment of efficacy
    Czuba, Bartosz
    Zarotynski, Dariusz
    Dubiel, Mariusz
    Borowski, Dariusz
    Wegrzyn, Piotr
    Cnota, Wojciech
    Reska-Nycz, Malgorzata
    Maczka, Marek
    Wielgos, Miroslaw
    Sodowski, Krzysztof
    Serafin, Dawid
    Kubaty, Anna
    Breborowicz, Grzegorz H.
    GINEKOLOGIA POLSKA, 2017, 88 (09) : 481 - 485
  • [44] Validation of Correction Factors for Serum Markers for First-Trimester Down Syndrome Screening in Singleton Pregnancies Conceived with Assisted Reproduction
    Engels, Melanie A. J.
    Pajkrt, Eva
    Groot, Dominique T.
    Schats, Roel
    Twisk, Jos W. R.
    van Vugt, John M. G.
    FETAL DIAGNOSIS AND THERAPY, 2013, 34 (04) : 217 - 224
  • [45] First trimester diagnosis of 13q-syndrome associated with increased fetal nuchal translucency thickness. Clinical findings and systematic review
    Manolakos, E.
    Peitsidis, P.
    Garas, A.
    Vetro, A.
    Eleftheriades, M.
    Petersen, M. B.
    Papoulidis, I.
    CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, 2012, 39 (01) : 118 - 121
  • [46] A prospective study to assess the clinical impact of interobserver realibility of sonographic measurements of fetal nuchal translucency and crown-rump length on combined first-trimester screening
    Aksoy, Huseyin
    Ozyurt, Sezin
    Aksoy, Ulku
    Mutlu, Erol
    Tutus, Sadan
    Babayigit, Mustafa Alparslan
    Acmaz, Gokhan
    Karadag, Ozge Idem
    Yucel, Burak
    NORTHERN CLINICS OF ISTANBUL, 2015, 2 (02) : 92 - 100
  • [47] SERUM PAPP-A AND FREE BETA-HCG ARE FIRST-TRIMESTER SCREENING MARKERS FOR DOWN-SYNDROME
    BRAMBATI, B
    TULUI, L
    BONACCHI, I
    SHRIMANKER, K
    SUZUKI, Y
    GRUDZINSKAS, JG
    PRENATAL DIAGNOSIS, 1994, 14 (11) : 1043 - 1047
  • [48] Analysis of External Quality Assessment of Maternal Serum Prenatal Screening for Down Syndrome in the First Trimester in China
    He, Falin
    Wang, Wei
    Zhong, Kun
    Yuan, Shuai
    Du, Yuxuan
    Wang, Zhiguo
    CLINICAL LABORATORY, 2021, 67 (06) : 1357 - 1364
  • [49] Expected performance of second trimester maternal serum testing followed by a 'genetic sonogram' in screening of fetal Down syndrome
    Benn, Peter A.
    Egan, James F. X.
    PRENATAL DIAGNOSIS, 2008, 28 (03) : 230 - 235
  • [50] Cost-effectiveness threshold of first-trimester Down syndrome maternal serum screening for the use of cell-free DNA as a second-tier screening test
    Blanquet, Marie
    Dreux, Sophie
    Leger, Stephanie
    Sault, Corinne
    Mourgues, Charline
    Laurichesse, Helene
    Lemery, Didier
    Vendittelli, Francoise
    Debost-Legrand, Anne
    Muller, Francoise
    ANNALES DE BIOLOGIE CLINIQUE, 2021, 79 (04) : 331 - 344