Economic burden of Down syndrome patients and psychological and social discrimination to female caregivers in Changsha, China / 中华医学遗传学杂志

OBJECTIVE@#To estimate the social and economic burden of Downs syndrome for patients and their families residing in Changsha, China.@*METHODS@#An 160-item self-administered questionnaire was designed and distributed to the primary caregivers of the patients in March 2020. A total of 81 eligible participants had completed the questionnaire, among which 20 were excluded for incomplete data. A patient perspective was taken to estimate the economic burden of the disease. The social impact of the disease on the patient's family was evaluated through questions adapted from the Stanford Psychological Wellbeing (PWB) Scale.@*RESULTS@#The estimated life-course cost of a Downs syndrome patient in Changsha is 4 985 659 RMB, with the patient and caregiver's loss of income taking the greater proportion. In addition, as the majority of the patients' primary caregivers, female caregivers experienced not only considerable financial hardship caused by the care provision, but also a significant amount of psychological pressure and social discrimination.@*CONCLUSION@#Increased level of social welfare for the patients and social support for their female caregivers are essential for reducing economic burden and improving their quality of life in the area. In addition, prenatal screening and diagnosis for Downs syndrome are important for reducing both the social and economic burden of the disease by preventing its occurrence.

Diagnosis of a fetus with a de novo 16q partial trisomy syndrome / 中华医学遗传学杂志

OBJECTIVE@#To carry out prenatal diagnosis on a fetus with abnormal findings by ultrasonography and non-invasive prenatal testing.@*METHODS@#The fetus and both parents were subjected to chromosomal karyotyping and single nucleotide polymorphism array (SNP-array) analysis.@*RESULTS@#The karyotypes of both parents were normal. The fetus carried a 46,N,der(X;16)(q28;q22) unbalanced translocation. SNP-array analysis confirmed that the derived chromosomal fragment of the fetus has originated from 16q. The fetus was diagnosed with 16q partial trisomy syndrome.@*CONCLUSION@#Combined chromosomal karyotyping analysis and SNP-array can detect chromosomal aberrations at submicroscopic level and enable accurate diagnosis of the fetus.