Background The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age. Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced mat...Background The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age. Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced maternal age （AMA）. The aim of this study was to evaluate the effectiveness of second trimester prenatal screening and amniocentesis for Down syndrome （DS） and compare the trends of choice of screening and amniocentesis among AMA women. Methods A total of 5404 AMA patients with natural singleton pregnancy were recruited for this prospective study from January 2008 to December 2010. The gestational weeks were from 15 weeks to 20~6 weeks. The patients referred were grouped into a screening group （2107 cases） and an amniocentesis group （3297 cases） by their own decision. The prevalence of DS was compared between the two groups by chi-square test. Choice rates for each maternal age with trends were compared by regression analysis. Results There were 18 cases of fetal DS detected in the screening group with a prevalence of 8.54%o （18/2107）. Twenty- five cases of fetal DS were diagnosed in the amniocentesis group with a prevalence of 7,58%0 （25/3297）. No statistical difference was observed in the prevalence of DS between the screening and amniocentesis group （P=0.928）. The invasive testing rate for DS in the amniocentesis group was 5.54 times higher than that of the screening group （1/131.88 vs. 1/23.78）. With the increase of the maternal age, the choice of amniocentesis increased while the choice of the screening showed an opposite trend. The choice of the AMA women between the screening and amniocentesis was significantly age relevant （P=0.012）. Conclusions The second trimester serum screening age alone to screen for DS. We suggest educating screening and amniocentesis options. in combination with maternal age was more effective than maternal the patients by recommending AMA women be informed of both展开更多
Objective To identify and determine the optimal method to screening for fetal Down＇s syndrome （DS）. Methods Three large cohorts with 17 118, 39 903, 16 646 subjects were enrolled for the first trimester double mark...Objective To identify and determine the optimal method to screening for fetal Down＇s syndrome （DS）. Methods Three large cohorts with 17 118, 39 903, 16 646 subjects were enrolled for the first trimester double marker （pregnancy-associated plasma protein A and free [B-human chorionic gonadotropin） screening （FTDMS）, second trimester double marker （c{-fetoprotein and free B-human chorionic gonadotropin） screening （STDMS）, and second trimester triple marker （a-fetoprotein, free 13-human chorionic gonadotropin and unconjugated estriol 3） screening （STTMS）, respectively. The sensitivity, specificity, false positive rate （FPR）, false negative rate （FNR） and the areas under ROC curves （AUCs） were estimated in order to determine the optimal screening method in women under or above 35 years old. Results For women under 35 years old, STTMS was the best method with a detection rate of 68.8% and FPR of 4.3% followed by the STDMS with a detection rate （sensitivity） of 66.7% and FPR of 4.9%. The FTDMS had a lower detection rate of 61.1% and FPR of 6.3%. For women above 35 years old, the detection rate of all the methods was similar, but STTMS method had a lowest FPR of 15.9%. For women under 35 years old AUCs were 0.77 （95% CI, 0.64 to 0.91）, 0.81 （95% CI, 0.71 to 0.91）, and 0.82 （95% CI, 0.69 to 0.96） for FTDMS, STDMS, and STTMS methods, respectively; for those above 35 years old, AUCs were 0.70 （95% CI, 0.56 to 0.83）, 0.70 （95% CI, 0.59 to 0.82）, 0.78 （95% Cl, 0.58 to 0.97） for FTDMS, STDMS and SITMS, respectively. Conclusion Findings from our study revealed that STDMS is optimal for the detection of fetal DS in pregnant women aged under 35. For individual women, if economic condition permits, STFMS is the best choice, while for women aged above 35, STTMS is the best choice in this regard.展开更多
文摘Background The incidence of autosomal trisomy in livebirths is strongly dependent on maternal age. Special consideration is given to the provision of prenatal screening and cytogenetic testing to women of advanced maternal age （AMA）. The aim of this study was to evaluate the effectiveness of second trimester prenatal screening and amniocentesis for Down syndrome （DS） and compare the trends of choice of screening and amniocentesis among AMA women. Methods A total of 5404 AMA patients with natural singleton pregnancy were recruited for this prospective study from January 2008 to December 2010. The gestational weeks were from 15 weeks to 20~6 weeks. The patients referred were grouped into a screening group （2107 cases） and an amniocentesis group （3297 cases） by their own decision. The prevalence of DS was compared between the two groups by chi-square test. Choice rates for each maternal age with trends were compared by regression analysis. Results There were 18 cases of fetal DS detected in the screening group with a prevalence of 8.54%o （18/2107）. Twenty- five cases of fetal DS were diagnosed in the amniocentesis group with a prevalence of 7,58%0 （25/3297）. No statistical difference was observed in the prevalence of DS between the screening and amniocentesis group （P=0.928）. The invasive testing rate for DS in the amniocentesis group was 5.54 times higher than that of the screening group （1/131.88 vs. 1/23.78）. With the increase of the maternal age, the choice of amniocentesis increased while the choice of the screening showed an opposite trend. The choice of the AMA women between the screening and amniocentesis was significantly age relevant （P=0.012）. Conclusions The second trimester serum screening age alone to screen for DS. We suggest educating screening and amniocentesis options. in combination with maternal age was more effective than maternal the patients by recommending AMA women be informed of both
基金supported by the National Natural Science Foundation of China (81101655)the grant from the China Postdoctoral Science Foundation (2011M501282)the grant from Hunan Provincial Science & Tecnology Departemnt(2009SK3048)
文摘Objective To identify and determine the optimal method to screening for fetal Down＇s syndrome （DS）. Methods Three large cohorts with 17 118, 39 903, 16 646 subjects were enrolled for the first trimester double marker （pregnancy-associated plasma protein A and free [B-human chorionic gonadotropin） screening （FTDMS）, second trimester double marker （c{-fetoprotein and free B-human chorionic gonadotropin） screening （STDMS）, and second trimester triple marker （a-fetoprotein, free 13-human chorionic gonadotropin and unconjugated estriol 3） screening （STTMS）, respectively. The sensitivity, specificity, false positive rate （FPR）, false negative rate （FNR） and the areas under ROC curves （AUCs） were estimated in order to determine the optimal screening method in women under or above 35 years old. Results For women under 35 years old, STTMS was the best method with a detection rate of 68.8% and FPR of 4.3% followed by the STDMS with a detection rate （sensitivity） of 66.7% and FPR of 4.9%. The FTDMS had a lower detection rate of 61.1% and FPR of 6.3%. For women above 35 years old, the detection rate of all the methods was similar, but STTMS method had a lowest FPR of 15.9%. For women under 35 years old AUCs were 0.77 （95% CI, 0.64 to 0.91）, 0.81 （95% CI, 0.71 to 0.91）, and 0.82 （95% CI, 0.69 to 0.96） for FTDMS, STDMS, and STTMS methods, respectively; for those above 35 years old, AUCs were 0.70 （95% CI, 0.56 to 0.83）, 0.70 （95% CI, 0.59 to 0.82）, 0.78 （95% Cl, 0.58 to 0.97） for FTDMS, STDMS and SITMS, respectively. Conclusion Findings from our study revealed that STDMS is optimal for the detection of fetal DS in pregnant women aged under 35. For individual women, if economic condition permits, STFMS is the best choice, while for women aged above 35, STTMS is the best choice in this regard.
