ObjectiveTo investigate the screening value of cervical fluid-based cytology test (TCT), high-risk human papillomavirus (HR-HPV) test, and colposcopy for cervical intraepithelial neoplasia (CIN) and cervical cancer in high-risk populations. MethodsA total of 466 patients between January 2013 and January 2015 with a history of intercourse bleeding were enrolled in this study, and the screening value of TCT, HR-HPV test and colposcopy for CIN and cervical cancer were retrospectively evaluated. ResultsIn the 466 patients, 165 were diagnosed with cervical inflammation, 116 with CIN, 182 with grade 2-3 CIN, and 3 with cervical cancer. The colposcopy had the highest sensitivity (84.1%), the lowest specificity (59.4%), high false positive rate (40.6%), low false negative rate (15.9%), and the highest negative predictive value (67.1%). The TCT had the highest specificity (84.8%) and the lowest false positive rate (15.2%). The indicators of HR-HPV were between those of TCT and colposcopy. There were significant differences in terms of these indicators among the three methods (P < 0.05). And the positive prediction value of HR-HPV was the highest (84.5%), while the negative prediction value of colposcopy was the highest (67.1%). There was a significant difference in the predictive value among the three methods (P < 0.05). The consistency of either TCT or HR-HPV alone with pathological diagnosis was poor (K=0.213, 0.343), while that of colposcopy was moderate (K=0.446). Combination of TCT and HR-HPV could significantly improve the diagnosis sensitivity (93.0%) with a lower false negative rate (7.0%); Youden index was 0.736, and the consistency with pathological examination was high (K=0.748). ConclusionsFor high-risk population with a history of intercourse bleeding or other abnormal cervical disorders, the screening sensitivity of TCT and HR-HPV alone for CIN and cervical cancer is low with a high false negative rate. Colposcopy has a high sensitivity and a low specificity. By combination of TCT and HR-HPV, the validity, reliability and predictive values can be improved significantly, and the sensitivity is high with a low false negative rate and a high consistency with pathological examination.
ObjectiveTo establish a hereditary deafness genetic screening cohort and conduct prospective follow-up to evaluate the effectiveness of the Nantong newborn genetic deafness screening program. MethodsA study based on traditional screening of newborn hearing was conducted from January 2016 to June 2021. Newborns in six hospitals in Nantong were screened for 15 hotspot mutation loci in four common deafness genes. Cohort follow-up was conducted. ResultsA total of 40 403 newborns were included, with a carrier rate of 39.5 per 1 000 for the four common deafness genes. In total, 168 children with hearing loss (HL) were identified at screening and follow-up, of which 56.5% (95 cases) had severe or very severe HL. The detection rate of HL was significantly higher with combined screening than with traditional screening (3.0‰ vs. 3.9‰, P<0.001). All four carriers of pathogenic mutations with normal hearing developed late-onset HL within 2 years of age. At the end of follow-up, six of the polygenic heterozygous mutation carriers had congenital HL and five had late-onset HL. Carriers of polygenic heterozygous mutations were more common as compared to other carrier mutation populations (2.1% vs. 68.8%, P<0.001). In addition, 525 carriers of the SLC26A4 mutation and 118 carriers of the MT-RNR1 mutation were identified and their parents were counselled during the combined screening, and no children with HL was identified during the follow-up period. ConclusionGenetic screening for deafness improves the detection of HL at birth. It is recommended that carriers of pathogenic mutations with normal hearing at birth be followed up every 3 to 6 months until the age of 2 years. Carriers of polygenic heterozygous mutations should undergo extended screening for deafness genes and have their hearing monitored more intensively for early detection of late-onset or progressive HL.