Objective:To analyze the application value of noninvasive prenatal testing (NIPT) in screening fetal chromosome aneuploidy in cautious population.Methods:The data of 19 590 pregnant women who voluntarily received NIPT in the Department of Gynecology and Obstetrics, General Hospital of Tianjin Medical University from October 2016 to June 2020 were retrospectively analyzed. The patients were divided into groups according to age, type of pregnancy and number of fetuses. The screening efficiency of NIPT was compared among different groups. Meanwhile, the screening efficacy of second trimester serum screening (STSS), STSS combined with NIPT and direct NIPT screening was compared and analyzed.Results:The positive predictive values of NIPT for trisomy 21, trisomy 18 and trisomy 13 were 87.18%, 54.84% and 41.18%, respectively. In pregnant women with advanced age (≥35 years old), in vitro fertilization and embryo transfer (IVF-ET) and twin pregnancy, NIPT sensitivity was all 100%, specificity was 99.79%, 99.82% and 100%, positive predictive value was 85.25%, 50.00% and 100%, respectively. The positive predictive value of ≥35 years old patients was significantly higher than that of <35 years old patients (61.54%, P=0.003), and the other indicators were similar to those of the young (<35 years old), conceived naturally and singleton group (all P>0.05). Compared with STSS, combined screening and direct NIPT screening had higher positive predictive value (1.20%, 68.75%, 73.74%; all P<0.001) and lower false positive rate (27.83%, 0.19%, 0.17%; all P<0.001). Conclusion:NIPT has high sensitivity, specificity and positive predictive value for fetal chromosome aneuploidy screening in pregnant women with advanced age, STSS high risk, IVF-ET and twin pregnancy, which greatly relieves the pressure of prenatal diagnosis and reduces the birth rates of children with chromosome disease.

Objective:To analyze the application value of noninvasive prenatal testing (NIPT) in screening fetal chromosome aneuploidy in cautious population.Methods:The data of 19 590 pregnant women who voluntarily received NIPT in the Department of Gynecology and Obstetrics, General Hospital of Tianjin Medical University from October 2016 to June 2020 were retrospectively analyzed. The patients were divided into groups according to age, type of pregnancy and number of fetuses. The screening efficiency of NIPT was compared among different groups. Meanwhile, the screening efficacy of second trimester serum screening (STSS), STSS combined with NIPT and direct NIPT screening was compared and analyzed.Results:The positive predictive values of NIPT for trisomy 21, trisomy 18 and trisomy 13 were 87.18%, 54.84% and 41.18%, respectively. In pregnant women with advanced age (≥35 years old), in vitro fertilization and embryo transfer (IVF-ET) and twin pregnancy, NIPT sensitivity was all 100%, specificity was 99.79%, 99.82% and 100%, positive predictive value was 85.25%, 50.00% and 100%, respectively. The positive predictive value of ≥35 years old patients was significantly higher than that of <35 years old patients (61.54%, P=0.003), and the other indicators were similar to those of the young (<35 years old), conceived naturally and singleton group (all P>0.05). Compared with STSS, combined screening and direct NIPT screening had higher positive predictive value (1.20%, 68.75%, 73.74%; all P<0.001) and lower false positive rate (27.83%, 0.19%, 0.17%; all P<0.001). Conclusion:NIPT has high sensitivity, specificity and positive predictive value for fetal chromosome aneuploidy screening in pregnant women with advanced age, STSS high risk, IVF-ET and twin pregnancy, which greatly relieves the pressure of prenatal diagnosis and reduces the birth rates of children with chromosome disease.

ObjectiveTo investigate the effects of functional point injection on upper limbs disorder in cerebral palsy infants. Methods120 cases were divided into 2 groups and each with 60 cases. The treatment group was given rehabilitation and functional point injection (injecting VitB1>, VitB12 in the acu-points selected at the disorder muscles) and the control group was given rehabilitation alone. All the cases were assessed with Peabody Developmental Motor Scale Fine Motor (PDMS-FM) and Modified Ashworth Scale (MAS). ResultsThe scores of both PDMS-FM and MAS improved in the treatment group compared with the control group (P<0.05). ConclusionFunctional point injection can improve the recovery of upper limbs disorder in cerebral palsy infants.

ObjectiveTo explore the state of misdiagnosis, missed diagnosis and excesseive diagnosis related to cerebral palsy(CP).Methods389 cases were retrospectively analyzed who were misdiagnosed, missed or escessively diagnosed related to CP as the first diagnosis in the inpatient and outpatient department from July 1999 to March 2010.ResultsAmong 389 cases, 156 cases were missed or misdiagnosed as nutritional disease, and 118 cases of other diseases were misdiagnosed as CP, while 115 cases who were normal children was excessively diagnosed as CP. The false diagnosis had relativity with children's age: doctors are more prone to make misdiagonsis when the children's age are smaller, while 293 cases were misdiagnosed before 12 months old (75.3%); 102 cases (65.4%) were misdiagnosed or missed as other diseases before September, 2004, while 87 cases (75.7%) were excessively diagnosed as CP after September, 2004. Frequency of misdiagnosis as CP reduced from 2004, and the proportion dropped from 55.9% to 44.1%.ConclusionIt is very important to master the diagnostic standard of CP. Both sides of the question are important, one side is to make early diagnosis and early treatment in order to achieve the best effect of rehabilitation, and the other side is to prevent misdiagnosis and excessive diagnosis which woud delay illness, or waste medical resources, increase the financial and psychological burden.