Objective:To investigate the prenatal genetic testing for suspected Beckwith-Wiedemann syndrome (BWS) to improve its prenatal diagnosis rate.Methods:This study reported a pregnant woman, who had a pregnant history of termination due to the same reason at 18 weeks, with fetal acromphalus and unusually thickened placenta indicated by ultrasound examination at 13 weeks of gestation. After chorionic villus sampling, single nucleotide polymorphism (SNP) array was used to analyze copy number variations in the whole genome, and methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) was also performed to detect the methylation and copy number variations in H19 and KCNQ1 genes on chromosome 11p15. Peripheral blood samples were collected from the couple for chromosome G-banding karyotype analysis and SNP array. Results:The SNP array indicated a 176 kb heterozygous deletion in the 11p15.5 region. MS-MLPA revealed a loss of methylation at imprinting control region 2 and a 50% reduction of copy numbers of KCNQ1 (L02903) gene. No abnormality was found in the parents in the SNP array and G-banding karyotype analysis. The fetus was prenatally diagnosed with BWS. Conclusions:When intrauterine abnormalities, such as acromphalus and abnormal thickening of the placenta, are found by ultrasound during early pregnancy, prenatal genetic tests related to BWS, including MS-MLPA and SNP array, are suggested to avoid a missed diagnosis of BWS.

Purpose/Significance To establish an informatization platform for nursing quality control in tertiary hospitals of Qinghai province,and to analyze its influence on nursing quality.Method/Process According to the needs of nursing quality management in Qing-hai province,based on the nursing quality data platform,a nursing quality index monitoring module is established.A tertiary hospital is selected as a pilot hospital,and the nursing quality data of this hospital from January to June 2021 is selected as the control group by u-sing the historical comparative study method,and the nursing quality data collected by the informatization platform from January to June 2022 is selected as the observation group.The changes of nursing quality before and after the application of informatization platform are compared.Result/Conclusion After the application of the informatization platform for nursing quality control,the rate of physical restraint and unplanned extubation of endotracheal intubation of hospitalized patients decreases significantly,and the score of patients'satisfaction with nursing work increases significantly.The informatization platform has strong operability and clinical application value.