Brian L Shaffer1, Aaron B Caughey, Mary E Norton. 1. Division of Perinatal Medicine and Genetics, Department of Obstetrics, Gynecology and Reproductive Sciences, University of California, San Francisco, CA 94143, USA. shafferb@obgyn.ucsf.edu
Abstract
OBJECTIVE: To investigate the rate of pregnancy termination for various fetal aneuploidies, and to evaluate predictors of this choice. METHODS: A retrospective cohort study identified all patients with any of seven common fetal aneuploidies (trisomies 21, 18, and 13; 45,X, 47,XXX, 47,XXY, and 47,XYY) at a referral prenatal diagnosis unit from 1983 to 2003. We abstracted type of aneuploidy, time and type of diagnostic procedure, maternal age, and ethnicity as predictors of the decision to terminate. Statistical comparisons were made using the chi-square test. Potential confounding variables were controlled for using multivariate logistic regression. RESULTS: Overall, there were 833 patients who had fetuses with aneuploidy. In our study population, the overall rate of termination was 81%: 86% in cases of autosomal trisomy and 60% in cases of sex chromosome aneuploidy (SCA) (p < 0.001). Rates were lowest in cases with the least severe prognosis, 47,XYY (57%) and 47,XXX (40%) compared with 45,X (65%) and 47,XXY (70%) (p = 0.05). Patients with SCA detected by chorionic villus sampling (CVS) had a higher termination rate than those who had undergone amniocentesis (77% vs 55%, p = 0.015). Increased maternal age was associated with higher termination rates in autosomal trisomy (88% vs 76% p < 0.001) and a trend toward decreased rates in those with SCA (55% vs 71%, p = 0.06). Hispanic women were less likely to terminate pregnancy (69%, p = 0.01) than those from other racial/ethnic groups. CONCLUSION: Type and severity of aneuploidy, type of diagnostic procedure, maternal age, and ethnicity contribute to patients' decision-making in the setting of fetal aneuploidy.
OBJECTIVE: To investigate the rate of pregnancy termination for various fetal aneuploidies, and to evaluate predictors of this choice. METHODS: A retrospective cohort study identified all patients with any of seven common fetal aneuploidies (trisomies 21, 18, and 13; 45,X, 47,XXX, 47,XXY, and 47,XYY) at a referral prenatal diagnosis unit from 1983 to 2003. We abstracted type of aneuploidy, time and type of diagnostic procedure, maternal age, and ethnicity as predictors of the decision to terminate. Statistical comparisons were made using the chi-square test. Potential confounding variables were controlled for using multivariate logistic regression. RESULTS: Overall, there were 833 patients who had fetuses with aneuploidy. In our study population, the overall rate of termination was 81%: 86% in cases of autosomal trisomy and 60% in cases of sex chromosome aneuploidy (SCA) (p < 0.001). Rates were lowest in cases with the least severe prognosis, 47,XYY (57%) and 47,XXX (40%) compared with 45,X (65%) and 47,XXY (70%) (p = 0.05). Patients with SCA detected by chorionic villus sampling (CVS) had a higher termination rate than those who had undergone amniocentesis (77% vs 55%, p = 0.015). Increased maternal age was associated with higher termination rates in autosomal trisomy (88% vs 76% p < 0.001) and a trend toward decreased rates in those with SCA (55% vs 71%, p = 0.06). Hispanic women were less likely to terminate pregnancy (69%, p = 0.01) than those from other racial/ethnic groups. CONCLUSION: Type and severity of aneuploidy, type of diagnostic procedure, maternal age, and ethnicity contribute to patients' decision-making in the setting of fetal aneuploidy.
Authors: Candice Y Johnson; Margaret A Honein; W Dana Flanders; Penelope P Howards; Godfrey P Oakley; Sonja A Rasmussen Journal: Birth Defects Res A Clin Mol Teratol Date: 2012-10-25
Authors: Hao T Duong; Adrienne T Hoyt; Suzan L Carmichael; Suzanne M Gilboa; Mark A Canfield; Amy Case; Melanie L McNeese; Dorothy Kim Waller Journal: Birth Defects Res A Clin Mol Teratol Date: 2012-02-28
Authors: Talia Thompson; Susan Howell; Shanlee Davis; Rebecca Wilson; Jennifer Janusz; Richard Boada; Laura Pyle; Nicole Tartaglia Journal: Am J Med Genet C Semin Med Genet Date: 2020-05-25 Impact factor: 3.908