Objective To estimate prenatal diagnoses strategy with abnormal results of non-invasive prenatal testing (NIPT) based on a case of mosaic for trisomy 22.Methods The pregnanct woman was recruited from Department of Prenatal Diagnosis Center of Xinhua Hospital.Ultrasound scans suggested fetal nuchal translucency was 3.5 mm.Peripheral venous blood was drawn from the pregnant woman for NIPT at 12+2 weeks gestation.For further prenatal diagnosis, amniocentesis was conducted at 16+2 weeks gestation, and karyotype analysis combination with chromosome microarray analysis (CMA) was executed to analysis amniocytes.Results NIPT results suggested that chromosome 21, 18 and 13 were normal and supplementary reports suggested that chromosome 22 were slightly above the normal range.Karyotype analyzed 35 cultured cells.Each of them revealed a normal female karyotype.However, CMA results suggested that chromosome 22 gain mosaic and its copy number was 2.26.The fetus was diagnosed as high possibility of mosaic for trisomy 22.Conclusions Combined with the NIPT results, which was slightly gain mosaic of chromosome 22, a prenatal diagnosis strategy were proposed.When NIPT results suggest chromosomal abnormities, karyotype analysis combination with CMA to diagnose were recommended.

OBJECTIVE: To explore the pathogenesis of two fetuses from one family affected with Joubert syndrome (JS). METHODS: Whole exome sequencing was employed to screen potential mutations in both fetuses. Suspected mutations were verified by Sanger sequencing. Impact of intronic mutations on DNA transcription was validated by cDNA analysis. RESULTS: Two novel TCTN1 mutations, c.342-8A>G and c.1494+1G>A, were identified in exons 2 and 12, respectively.cDNA analysis confirmed the pathogenic nature of both mutations with interference of normal splicing resulting in production of truncated proteins. CONCLUSION The genetic etiology of the family affected with JS has been identified.Above findings have enriched the mutation spectrum of TCTN1gene and facilitated understanding of the genotype-phenotype correlation of JS.
Abnormalities, Multiple ; diagnosis ; genetics ; Cerebellum ; abnormalities ; Eye Abnormalities ; diagnosis ; genetics ; Humans ; Kidney Diseases, Cystic ; diagnosis ; genetics ; Membrane Proteins ; genetics ; Mutation ; Pedigree ; Retina ; abnormalities ; Whole Exome Sequencing

Abstract: To explore the cognitive emotion regulation strategies and its influence on quality of life in adult epileptics. Methods: A cross-sectional study was conducted on 83 adult epileptics and 53 healthy adults with gender, age and education matching. The Chinese version of cognitive emotion regulation questionnaire(CERQ-C) and the quality of life scale for epileptics(QOLIE-31) were used to evaluate. Results: (1) The total score of positive cognitive emotion regulation(PCER) and its sub-items scores in epilepsy group were significantly lower than those in control group(t=-5.587--2.837,P<0.05). The total score of negative cognitive emotion regulation(NCER) and the sub-items scores were significantly higher than those of the control group(t=2.198-4.028,P<0.05).(2) The scores of life quality in epilepsy group were significantly lower than those in control group(t=-7.109--4.226,P<0.001).(3) Pearson correlation analysis showed: the total score of PCER and its sub-items scores were positively correlated with the total score of quality of life(r=0.391-0.581,P<0.001). NCER and its sub-items scores were negatively correlated with the total score of quality of life(r=-0.731--0.540,P<0.001).(4) Multivariate stepwise linear regression analysis showed that seizure worry was negatively correlated with catastrophizing and seizure frequency(t=-3.063--2.574,P<0.05); overall quality of life was positively correlated with catastrophizing(t=-2.214,P<0.05); emotional well being was positively correlated with positive re-attention(t=2.376,P<0.05); emotional well being was negatively correlated with catastrophizing(t=-2.219,P<0.05); fatigue was negatively correlated with blaming others(t=-2.768,P<0.05); cognitive function was positively correlated with positive refocus(t=2.593,P<0.05); medication effects were negatively correlated with blame others(t=-3.348,P<0.05); the total score of quality of life was positively correlated with positive re-attention(t=2.833,P<0.05); the total score of life quality was negatively correlated with catastrophizing(t=-2.729,P<0.05). Conclusion When confronted with negative life events, adult epileptics are more likely to use negative cognitive emotion regulation strategies such as meditation, catastrophizing and blaming others than healthy people, which is closely related to the decline of quality of life of epileptics.