Objective To evaluate the application of modified MELD score based on the estimated glomerular filtration rate (eGFR) in the prognosis of patients with liver failure.Methods Clinical data of 558 patients with liver failure admitted in the First Affiliated Hospital of Xinjiang Medical University from December 2001 to September 2017 were retrospectively analyzed.Among all patients,238 cases survived (survival group) and 320 died (fatal group) within 3 months.The eGFR was used in the modified model for end stage liver disease (MELD) instead of serum creatinine.Cox regression analyses were fitted with modified MELD or MELD scores by SAS 9.0 PHREG.The receiver operating characteristic (ROC) curve was generated and the values of modified MELD score and MELD score in predicting the prognosis of patients with liver failure in 3 months were compared.Kaplan-Meier method was used to analyze the survival rate of patients with liver failure.Results Cox regression analysis showed that total bilirubin,international normalized ratio (INR) and eGFR were independent prognostic factors for patients with liver failure.The fitted MELD modified score =4.07 × ln total bilirubin (mg/dL) + 12.99 × ln INR-8.32 × ln eGFR.The area under the ROC curve (AUC) of the modified MELD score and the MELD score were 0.814 and 0.757,respectively,and the sensitivity and specificity of the modified MELD score were 70.0％ and 71.4％,respectively.The predictive power of modified MELD scores in patients with liver failure was better than MELD score (Z =4.47,P ＜ 0.01).The 3-month survival rate of patients with modified MELD score ＜-15.38 was significantly higher than those with modified MELD score ≥-15.38 (x2 =99.20,P ＜ 0.01).Conclusions eGFR is an independent risk factor for the prognosis of patients with liver failure.The modified MELD score including eGFR and excluding etiological factors can be more effective and more accurate for prognosis of patients with liver failure.

Objective To investigate the prenatal diagnosis and genetic counseling of fetal nuchal fold (NF) thickening.Methods This study retrospectively analyzed 17 fetuses with increased NF detected by prenatal ultrasound examination in Peking Union Medical College Hospital,Peking Union Medical College & Chinese Academy of Medical Sciences from December 1,2016 to December 1,2017.All cases were divided into isolated (isolated group) or non-isolated increased NF group (non-isolated group) according to whether the fetus had concomitant ultrasonographic abnormalities or not.Karyotype and chromosomal microarray analysis (CMA) were performed on all cases.Clinical data,prenatal genetic testing results and pregnancy outcomes were analyzed.Results Of those twelve cases in the isolated group,two were terminated due to the identification of chromosomal abnormalities and pathogenic copy number variations (CNVs) and the fetal autopsy results were consistent with the prenatal diagnosis.The rest 10 pregnancies were all continued including one fetus carrying a variant of unknown significance,which was proved to be a paternal heredity by CMA,and nine without genetic abnormalities and all-these infants were healthy during follow-up.Among the five non-isolated cases,one was diagnosed as trisomy 21 by karyotyping and CMA,and the other four were found to have structural abnormalities under ultrasound scan,but without genetic abnormalities in karyotyping and CMA.And all the five pregnancies were terminated after genetic counseling and three of them chose whole exome sequencing (WES) for further test.One homozygous mutation in CHRNA 1 gene and one de novo mutation in SETD2 gene were found in two cases,respectively,while no abnormality was identified in the other one case.Conclusions Once increased NF were indicated by ultrasound examination,prenatal genetic testing should be offered to the patients,including CMA,regardless of other ultrasonographic abnormalities,and WES should also be offered when necessary.Considering a thickened NF is associated with increased risks of structural defects,a close follow-up with fetal echocardiography and ultrasound is required even the prenatal tests are normal.