ObjectivesTo explore the association between liver dysfunction and premature birth (PTB).MethodsA prospective cohort of HBV-infected or uninfected pregnant women of Han nationality attending antenatal care at Nantong Maternal and Child Health Hospital was recruited from January 1st, 2012 to June 30th, 2016. Liver function tests (LFTs) were monitored through pregnancy. Robust Poisson regression was used to estimate adjusted risk ratios (RRs) on HBV infection and LFT abnormalities.ResultsAmong 35 452 pregnant women (1 073 HBV carriers and 34 379 non-HBV women), 4 266 (12.03%) had at least one instance of abnormal LFT results. One fold upper limit of normal aspartate aminotransferase (AST), two folds upper limit of normal total bilirubin, and four folds upper limit of normal total bile acid rather than HBsAg positivity, were identified as independent risk factors for PTB by Robust Possion regression analysis.ConclusionsAbnormal LFTs among pregnant women is an independent risk factor of PTB. We suggest monitoring the LFTs results of high-risk population throughout pregnancy.
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.