Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening

被引:7
|
作者
Ogino, S
Wilson, RB
Gold, B
Hawley, P
Grody, WW
机构
[1] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA
[2] Harvard Univ, Sch Med, Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA
[3] Univ Penn, Ctr Med, Dept Pathol & Lab Med, Philadelphia, PA 19104 USA
[4] NCI, Human Genet Sect, Lab Genomic Divers, Frederick, MD 21701 USA
[5] Childrens Hosp, Dept Med, Boston, MA 02115 USA
[6] Univ Calif Los Angeles, Sch Med, Dept Pathol, Los Angeles, CA 90024 USA
[7] Univ Calif Los Angeles, Sch Med, Lab Med Human Genet & Pediat, Los Angeles, CA 90024 USA
关键词
CFTR; counseling; cystic fibrosis; probability; screening;
D O I
10.1097/01.GIM.0000139511.83336.8F
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
Purpose: Risk assessment is an essential component of genetic counseling and testing, and Bayesian analysis plays a central role in complex risk calculations. We previously developed generalizable Bayesian methods to calculate the autosomal recessive disease risk of a fetus when one or no mutation is detected, and another, independent risk factor is present. Our methods are particularly useful for calculating the CF disease risk for a fetus with echogenic bowel. In genetics practice, however, there are other scenarios for which our previous methods are inadequate. Methods and Results: We provide herein methods for calculating genetic risks in a variety of common clinical scenarios. These scenarios include the following: (1) different mutation panels that have been used for the parents and for a fetus; (2) genetic testing results available on the proband or other relatives, in addition to the consultand; (3) fetal ultrasound negative for echogenic bowel with a positive family history; and (4) a consultand with a mixed ethnic background. Conclusion: Our Bayesian methods have proven their versatility through application to many different common genetic counseling scenarios. These methods permit autosomal recessive disease and carrier probabilities to be calculated accurately, taking into account all relevant information. Our methods allow accurate genetic risk estimates for patients and their family members for CF or other autosomal recessive disorders.
引用
收藏
页码:439 / 449
页数:11
相关论文
共 50 条
  • [1] Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening
    Ogino, S
    Wilson, RB
    Hawley, P
    Grody, WW
    JOURNAL OF MOLECULAR DIAGNOSTICS, 2004, 6 (04): : 408 - 408
  • [2] Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening (vol 6, pg 439, 2004)
    Ogino, S
    Wilson, RB
    Gold, B
    Hawley, P
    Grody, WW
    GENETICS IN MEDICINE, 2005, 7 (06) : 460 - 460
  • [3] Carrier screening for cystic fibrosis in a prenatal setting
    Delvaux, I
    Van Tongerloo, A
    Messiaen, L
    Van Loon, C
    De Bie, S
    Mortier, G
    De Paepe, A
    GENETIC TESTING, 2001, 5 (02): : 117 - 125
  • [4] A cost-effectiveness analysis of prenatal carrier screening for cystic fibrosis
    Vintzileos, AM
    Ananth, CV
    Smulian, JC
    Fisher, AJ
    Day-Salvatore, D
    Beazoglou, T
    OBSTETRICS AND GYNECOLOGY, 1998, 91 (04): : 529 - 534
  • [5] APPROACHES TO PRENATAL CYSTIC-FIBROSIS CARRIER SCREENING
    BROCK, D
    JOURNAL OF MEDICAL GENETICS, 1993, 30 (07) : 621 - 621
  • [6] Guidelines for Cystic Fibrosis Carrier Screening in the Prenatal/Preconception Period
    Hopkins, Maeve K.
    Dugoff, Lorraine
    Kuller, Jeffrey A.
    OBSTETRICAL & GYNECOLOGICAL SURVEY, 2022, 77 (10) : 606 - 610
  • [7] A NEW APPROACH TO PRENATAL CYSTIC-FIBROSIS CARRIER SCREENING
    MIEDZYBRODZKA, Z
    HAITES, N
    DEAN, J
    JOURNAL OF MEDICAL GENETICS, 1993, 30 (01) : 86 - 86
  • [8] Prenatal screening for cystic fibrosis: an economic analysis
    Nielson, R
    Gyrd-Hansen, DT
    HEALTH ECONOMICS, 2002, 11 (04) : 285 - 299
  • [9] Effectiveness of preconceptional and prenatal cystic fibrosis carrier screening: a systematic review
    Banzi, Rita
    Allocati, Eleonora
    Gerardi, Chiara
    Castellani, Carlo
    Rissone, Marco
    Stracuzzi, Marta
    Ferrario, Lucrezia
    Foglia, Emanuela
    Mosconi, Paola
    Colombo, Cinzia
    EPIDEMIOLOGIA & PREVENZIONE, 2023, 47 (4-5): : 243 - 256
  • [10] THE COST-EFFECTIVENESS OF PRENATAL CARRIER SCREENING FOR CYSTIC-FIBROSIS
    LIEU, TA
    WATSON, SE
    WASHINGTON, AE
    OBSTETRICS AND GYNECOLOGY, 1994, 84 (06): : 903 - 912