Discussion on Quality Assurance and Improvement Mode of Ethics Committee / 中国医学伦理学

With the continuous improvement of the ethics committee status and the rapid growth of ethical review projects, the ethics committee urgently needs to establish an evaluation mechanism for continuous improvement. In view of a series of problems faced by the ethics committee in its daily management and operation, this paper discussed the concept and measures of introducing quality assurance and quality improvement into the ethics committee. Through comparing the advantages and disadvantages of the three models of quality assurance and quality improvement, this paper summarized the practical experience, further determined the internal evaluation, improvement model and evaluation elements of ethics committee, constantly improve the internal evaluation system of the ethics committee, strengthen the education and training of the ethics committee, and implement the whole chain electronic review, so as to improve the operation efficiency and review ability of the ethics committee, and provide sufficient ethical protection for the protection of the rights and interests of subjects.

Prenatal diagnosis and genetic counseling for two pedigrees with pericentric inversion of chromosome 18 / 中华围产医学杂志

Objective To investigate the roles of ultrasound,laboratory methods,and genetic diagnostic techniques in screening and diagnosing fetuses with an unbalanced recombination of chromosome 18[rec(18)] due to parental pericentric inversion,and the relationship between rec(18) fetal phenotypes and their recombinant chromosomes.Methods We analyzed two pedigrees with pericentric inversion of chromosome 18 (including the fetuses and their parents) which received prenatal diagnosis and genetic counseling on March 2017 and March 2018 respectively at Xiamen Maternity and Children Health Care Hospital through karyotype analysis,chromosome microarray analysis(CMA) and fluorescence in situ hybridization (FISH).Literatures were retrieved from Scientific Citation Index,PubMed,China National Knowledge Infrastructure(CNKI) and Wanfang Data from 1970 to June 2018.The genetic counseling records,ultrasound and laboratory findings,pregnancy outcomes of families with pericentric inversion of chromosome 18 in this study and the included literatures were reported and analyzed.Results Non-invasive prenatal testing (NIPT) of one case indicated high risk of fetal trisomy 18 at 22 weeks of gestation.And the imaging examination indicated that fetus had interventricular septal defect and micrognathia at 24+2 weeks.Prenatal diagnosis confirmed that the fetal karyotype was 46,XY,rec(1 8)dup(18q) inv(18)(p1 1.32q12.1) pat,which was originated from his father whose karyotype was 46,XY,inv(1 8)(p1 1.32q12.1).In the other case,serum screening testing indicated high risk of fetal trisomy 18 at 12+3 weeks.Imaging examination indicated that fetus had thickened nuchal translucency at 13+3 weeks and bilateral choroid plexus cysts at 15+6 weeks.Prenatal diagnosis confirmed that the fetal karyotype was 46,XY,rec(18)dup(18q)inv(18) (p11.32q12.1) mat,which was originated from his mother whose karyotype was 46,XX,inv(18)(p11.32q12.1).Among the nine fetuses,including seven from five pedigrees reported in the literature retrieved and two from the two pedigrees we reported,seven showed abnormal soft markers or structures in ultrasound and three of the seven pedigrees had high risk of fetal trisomy 18.Conclusions Ultrasound screening is highly sensitive in detecting rec(18) fetuses,yet the association between ultrasound features and fetal karyotypes is not clear.The combination of multiple genetic analysis methods,including karyotype analysis,CMA and FISH,may be conducive to clarifying the types and sources of complex derived chromosomes.

A SURVEY OF THE RELATIONSHIP BETWEEN MOTHERS' CONDITIONS AND 365 LOW BIRTH WEIGHT INFANTS / 西安交通大学学报(医学版)

365 low birth weight infants have been born inour Obstetric Department in the past two years. Aretrospective investigation of their morthers' con-ditions during pregnancy and delivery which had aneffect on their babies weight was done. The resultsshowed that incidence of low birth weight infantswas 7. 99% and mortality rate was 15. 07%. The care.X~2 test indicated that hypertention syndrome ofpregnancy and anemia which the mothers sufferedfrom were the main diseases which affected birthweight of infants. The analysis of multiple stepwiseregression showed that the most dangerous factorswere peasant mothers, premature and neonate ab-normity. So we must strengthen perinatal healthcare.