OBJECTIVETo assess the accuracy of copy number variations (CNVs) detection by non-invasive prenatal testing (NIPT) in addition to its routine targets and clinical significance of such CNVs for the reduction of fetuses born with chromosomal microdeletion/duplication syndromes.

METHODSFrom October 2014 to October 2015, 14 235 pregnant women volunteered to participate in the study. Fifteen cases detected with chromosomal CNVs by the NIPT decided to undergo prenatal diagnostic procedures including amniocentesis, G-banded karyotyping and chromosomal microarray analysis (CMA). All such cases were routinely followed up after birth.

RESULTSAmong the 14 235 subjects underwent NIPT, 18 cases were detected with Down syndrome, 4 with trisomy 18, and 2 with trisomy 13, in addition with 24 cases of CNVs. For the latter, 15 (including 11 cases with microdeletions and 4 cases with microduplications) participated in further prenatal diagnosis. In 13 cases (86.7%), the results of CMA were consistent with those of NIPT. On the other hand, only 7 out of the 15 cases showed a positive result with karyotyping, suggesting a rather high rate of missed diagnosis (46.2%). Of note, karyotyping has identified partial inversion of chromosome 9 in one case.

CONCLUSIONAs a screening tool, NIPT has a high accuracy for the detection of CNVs. However, as this method is still under improvement, it is more of a reminder rather than a diagnostic tool with full capability.

Adolescent ; Adult ; Child ; Child, Preschool ; Chromosome Aberrations ; Chromosome Banding ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; genetics ; Humans ; Infant ; Infant, Newborn ; Karyotyping ; Male ; Microarray Analysis ; Pregnancy ; Prenatal Diagnosis ; Young Adult

Liver cancer is a common and leading cause of cancer death in China. We used the cancer registry data collected from 2009 to 2011 to describe the spatial distribution of liver cancer incidence at village level in Shengqiu county, Henan province, China. Spatial autocorrelation analysis was employed to detect significant differences from a random spatial distribution of liver cancer incidence. Spatial scan statistics were used to detect and evaluate the clusters of liver cancer cases. Spatial clusters were mapped using ArcGIS 10.0 software in order to identify their physical location at village level. High cluster areas of liver cancer incidence were observed in 26 villages of 7 towns and low cluster areas were observed in 16 villages of 4 towns. High cluster areas of liver cancer incidence were distributed along the Sha Ying River which is the largest of tributary of the Huai River. Role of water pollution in Shenqiu County where the high cluster was found deserves further investigation.
China ; epidemiology ; Cluster Analysis ; Humans ; Incidence ; Liver Neoplasms ; epidemiology