This study presents prenatal diagnosis and genetic analysis of a pedigree with X-linked intellectual disability. A gravida at approximately 20 gestational weeks underwent prenatal diagnosis following non-invasive prenatal testing suggested sex chromosome abnormalities. Copy number variation (CNV) sequencing identified a 5.7 Mb duplication at Xp22.2p22.11 in the fetus, which initially classified as a variant of uncertain clinical significance. This duplication was inherited from the phenotypically normal mother, while paternal CNV results were normal. Genetic testing of four intellectually disabled family members revealed the identical 5.7 Mb duplication. Through expanded pedigree analysis, the pathogenicity classification of the Xp22.2p22.11 microduplication was upgraded to likely pathogenic. After comprehensive genetic counseling, the family elected pregnancy termination with informed consent.

This study presents prenatal diagnosis and genetic analysis of a pedigree with X-linked intellectual disability. A gravida at approximately 20 gestational weeks underwent prenatal diagnosis following non-invasive prenatal testing suggested sex chromosome abnormalities. Copy number variation (CNV) sequencing identified a 5.7 Mb duplication at Xp22.2p22.11 in the fetus, which initially classified as a variant of uncertain clinical significance. This duplication was inherited from the phenotypically normal mother, while paternal CNV results were normal. Genetic testing of four intellectually disabled family members revealed the identical 5.7 Mb duplication. Through expanded pedigree analysis, the pathogenicity classification of the Xp22.2p22.11 microduplication was upgraded to likely pathogenic. After comprehensive genetic counseling, the family elected pregnancy termination with informed consent.

Objective To explore the application value of sensitive index of nursing quality in nursing management of patients with cancer pain.Methods One hundred and eight patients with cancer pain in the First Affiliated Hospital of Xinxiang Medical University from February 2014 to March 2015 were selected as the control group;one hundred and eight patients with cancer pain in the First Affiliated Hospital of Xinxiang Medical University from April 2015 to June 2016 were selected as the study group.The traditional cancer pain nursing quality evaluation criterion was taken in the control group,and the improved cancer pain nursing quality evaluation criterion was taken in the study group to evaluate the nursing quality.The accuracy of pain assessment,awareness rate of cancer pain knowledge,degree of satisfaction to the nursing work were compared between the two groups.Results The accuracy of pain assessment of patients in the study group (90.7％,98/108)was significandy higher than that in the control group (45.4％,49/108) (x2 =51.16,P ＜ 0.05);the awareness rate of cancer pain knowledge of patients (98.1％,106/108) in the study group was significantly higher than that in the control group (72.2％,78/108) (x2 =28.83,P ＜ 0.05);the satisfaction rate of the patients in the study group (100.0％,108/108) was significantly higher than that in the control group (85.2％,92/108) (x2 =17.38,P ＜ 0.05).Conclusion The overall quality of cancer pain care can be improved by strengthening the quality evaluation of the pain assessment accuracy and the awareness rate of cancer pain knowledge in patients with cancer pain.