First-trimester screening for trisomy 21 in twin pregnancy:: does the addition of biochemistry make an improvement?

被引:33
|
作者
Goncé, A
Borrell, A
Fortuny, A
Casals, E
Martínez, MA
Mercadé, I
Cararach, V
Vanrell, JA
机构
[1] Univ Barcelona, Prenatal Diagnosis Unit, Inst Gynecol Obstet & Neonatol, Hosp Clin,Med Sch, Barcelona 08028, Catalonia, Spain
[2] Univ Barcelona, Sch Med, Dept Biochem, Biomed Diagnosis Ctr, Barcelona, Catalonia, Spain
关键词
twins; first-trimester screening; trisomy; 21; nuchal translucency; Combined Test;
D O I
10.1002/pd.1304
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Objective To evaluate the effectiveness of the addition of first-trimester biochemistry to fetal nuchal translucency (NT) measurement in the Combined Test when screening for trisomy 21 in twin pregnancies. Methods Maternal serum free beta-hCG and PAPP-A were determined at 8 to 12 weeks and fetal NT was measured at 11 to 14 weeks. The individual risks were estimated for each of the fetuses using both NT screening alone and the Combined Test. An invasive diagnostic procedure was offered when the risk was I : 250 or over in either one of the fetuses. In the first period, only the results of NT screening were clinically applied. After previous analysis, the Combined Test was introduced into clinical practice. Results In the two-and-a-half-year study period, a complete follow-up was obtained in 100 twin pregnancies. Three fetuses (two pregnancies) with trisomy 21 were detected by both methods. The false-positive rate achieved by NT screening (14.3% of pregnancies and 8.6% of fetuses) was substantially reduced when first-trimester biochemistry was added in the Combined Test (5.1% of pregnancies and 3.6% of fetuses). Conclusion The Combined Test appears to maintain the detection rate achieved by NT screening for trisomy 21 in twin pregnancies, but false-positive rates and invasive diagnostic procedures are reduced. Copyright (c) 2005 John Wiley & Sons, Ltd.
引用
收藏
页码:1156 / 1161
页数:6
相关论文
共 50 条
  • [1] First-trimester risk assessment for trisomy 21 and 18 in twin pregnancy
    Chasen, Stephen
    Perni, Sriram
    Kalish, Robin B.
    Chervenak, Frank A.
    [J]. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2006, 195 (06) : S14 - S14
  • [2] Accuracy of first-trimester cell-free DNA screening for trisomy 21 in twin pregnancy
    Gottardi, E.
    Costa, J. -M.
    Kleinfinger, P.
    Lohmann, L.
    Carrara, J.
    Letourneau, A.
    Demain, A.
    Benachi, A.
    Vivanti, A. J.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2021, 58 (02) : 327 - 328
  • [3] First-trimester biochemistry and outcomes in twin pregnancy
    Martinucci, Stacy
    Perni, Sriram C.
    Kalish, Robin B.
    Chasen, Stephen
    [J]. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2007, 197 (06) : S84 - S84
  • [4] First-Trimester Biochemistry and Outcomes in Twin Pregnancy
    Chasen, Stephen T.
    Martinucci, Stacy
    Perni, Sriram C.
    Kalish, Robin B.
    [J]. JOURNAL OF REPRODUCTIVE MEDICINE, 2009, 54 (05) : 312 - 314
  • [5] Nasal bone in first-trimester screening for trisomy 21
    Cicero, Simona
    Avgidou, Kyriaki
    Rembouskos, Georgios
    Kagan, Karl Oliver
    Nicolaides, Kypros H.
    [J]. AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY, 2006, 195 (01) : 109 - 114
  • [6] Application of an individualized nomogram in first-trimester screening for trisomy 21
    Sun, Y.
    Zhang, L.
    Dong, D.
    Li, X.
    Wang, J.
    Yin, C.
    Poon, L. C.
    Tian, J.
    Wu, Q.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2021, 58 (01) : 56 - 66
  • [7] Prospective validation of first-trimester combined screening for trisomy 21
    Kagan, K. O.
    Etchegaray, A.
    Zhou, Y.
    Wright, D.
    Nicolaides, K. H.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2009, 34 (01) : 14 - 18
  • [8] Performance of first trimester screening for Trisomy 21 in twin pregnancies
    Bergstrand, Eva
    Borregaard Miltoft, Caroline
    Tabor, Ann
    [J]. PRENATAL DIAGNOSIS, 2021, 41 (02) : 210 - 217
  • [9] First-trimester combined screening for trisomy 21 in a predominantly Chinese population
    Leung, T. Y.
    Chan, L. W.
    Leung, T. N.
    Fung, T. Y.
    Sahota, D. S.
    Spencer, K.
    Lau, T. K.
    [J]. ULTRASOUND IN OBSTETRICS & GYNECOLOGY, 2007, 29 (01) : 14 - 17
  • [10] First-trimester combined screening for trisomy 21 in women with renal disease
    Valentin, Morgane
    Muller, Francoise
    Beaujard, Marie Paule
    Dreux, Sophie
    Czerkiewicz, Isabelle
    Meyer, Valerie
    Leruez, Marianne
    Ville, Yves
    Salomon, Laurent J.
    [J]. PRENATAL DIAGNOSIS, 2015, 35 (03) : 244 - 248