[Clinical application and evaluation of health economics for non-invasive prenatal testing of fetuses in Tianjin].

OBJECTIVE: To assess the clinical efficacy and health economic value of non-invasive prenatal testing (NIPT) for the prenatal screening of common fetal chromosomal aneuploidies. METHODS: 10 612 pregnant women from October 2017 to December 2019 presented at the antenatal screening clinic of the General Hospital of Tianjin Medical University were selected as the study subjects. Results of NIPT and invasive prenatal diagnosis and follow-up outcome for the 10 612 pregnant women were retrospectively analyzed and compared. Meanwhile, NIPT data for two periods were analyzed for assessing the health economic value of NIPT as the second- or first-tier screening strategy for the prenatal diagnosis of fetal trisomies 21, 18 and 13. RESULTS: The NIPT was successful in 10 528 (99.72%) subjects, with the sensitivity for fetal trisomies 21, 18 and 13 being 100%, 92.86% and 100%, and the positive predictive value (PPV) being 89.74%, 61.90% and 44.44%, respectively. The PPV of NIPT for sex chromosome aneuploidies was 34.21%. Except for one false negative case of trisomy 18, the negative predictive value for trisomy 21, trisomy 13 and other chromosomal abnormalities were 100%. For pregnant women with high risk by serological screening, advanced maternal age or abnormal ultrasound soft markers, NIPT has yielded a significantly increased high risk ratio. There was no statistical difference in the PPV of NIPT among pregnant women from each subgroup. NIPT would have higher health economic value as a second-tier screening until 2019, while compared to 2015 ~ 2017, its incremental cost-effectiveness ratio as a first-tier screening had declined clearly. CONCLUSION: The screening efficacy of NIPT for trisomies 21, 18 and 13 for a mixed population is significantly better than conventional serological screening, but it is relatively low for sex chromosomal abnormalities. NIPT can also be recommended for populations with relatively high risks along with detailed pre- and post-test genetic counselling. From the perspective of health economics, except for open neural tube defects, it is possible for NIPT to replace the conventional serological screening in the future as its cost continues to decrease.

Exposure of ambient PM2.5 during gametogenesis period affects the birth outcome: Results from the project ELEFANT.

Various environmental and behavioural factors influence neonatal health. Gamete formation (gametogenesis) is a crucial period which affects embryo development and neonatal health and ambient air pollution exposure at this stage may lead to an adverse birth outcome. Previous epidemiological and toxicological research demonstrated a strong association between maternal ambient air pollution exposure and adverse birth outcomes. However, the joint exposure-outcome of paternal exposure (76 days before the last menstruation and 14 days after the last menstruation) and maternal exposure (14 days after the last menstruation) when exploring the mechanism of the influence of air pollutants on pregnancy outcome and neonatal health remains unexplored. Here, in the Project Environmental and LifEstyle FActors iN metabolic health throughout life-course Trajectories (ELEFANT), we collected the data of 10,960 singleton pregnant women with 24-42 completed gestational weeks and included them in this study. A multinominal logistic regression model was applied to investigate the association between adverse birth outcomes and ambient PM2.5 exposure levels during spermatogenesis and oogenesis. Results from the binary classification of ambient PM2.5 exposure showed that the risk of abnormal birthweight was significantly greater when ambient PM2.5 exposure was both higher during spermatogenesis and oogenesis, with RRs of 1.86 (95% CI: 1.02, 3.39). The risk of macrosomia (RR: 1.88 (95% CI: 1.13, 3.12)) increased significantly when ambient PM2.5 levels were higher during spermatogenesis. Primiparity and primigravity are more likely to be influenced by higher ambient PM2.5 levels during spermatogenesis. In conclusion, more attention should be paid to higher exposure level of ambient PM2.5 during spermatogenesis.