OBJECTIVE: To carry out amniocyte karyotyping analysis and chromosomal microarray analysis (CMA) for women with anomalies revealed by fetal echocardiography. METHODS: From January 2019 to December 2021, genetic testing was carried out for 205 fetuses including 97 with soft marker anomalies and 108 with structural heart abnormalities. Among these, 138 only had abnormal fetal echocardiography, whilst 38 and 29 were complicated with extracardiac soft marker anomalies and extracardiac structural malformation, respectively. RESULTS: No significant difference was detected in the detection rate of genetic anomalies between fetuses with heart-related soft markers and those with abnormal heart structures (P > 0.05). Compared with those with abnormal fetal echocardiography alone, the detection rates of chromosomal aneuploidies in those with abnormal extracardiac soft markers or abnormal extracardiac structures were significantly higher (P < 0.05). Twenty-eight chromosomal aneuploidies (including a rare mosaicism), 2 balanced translocations and 1 supernumerary marker chromosome were detected by karyotyping analysis. Twenty-seven aneuploidies, 19 copy number variations (CNVs) and 1 uniparental disomy were detected by CMA. CONCLUSION Prenatal diagnosis has attached great importance to the suggestive role of fetal heart-related soft markers, and chromosomal aneuploidies are more common among fetuses with abnormal extracardiac soft markers and extracardiac structural abnormalities. Chromosomal Karyotyping is useful for the detection of balanced translocations and mosaicisms. CMA is helpful for the detection of CNVs. Identification of the genetic causes can facilitate genetic counseling for the affected couples.
Pregnancy ; Female ; Humans ; DNA Copy Number Variations ; Prenatal Diagnosis ; Fetus ; Echocardiography ; Aneuploidy ; Mosaicism ; Translocation, Genetic

Objective:To investigate the application effect of the blended teaching model of "intelligent teaching" and "wisdom learning" in the practice teaching of integrated traditional Chinese and Western medicine in internal medicine.Methods:According to the principle of randomization, 54 interns in Class 1 of integrated traditional Chinese and Western medicine in the grade of 2019 were selected as control group and received traditional teaching, and 56 interns in Class 2 were selected as observation group and received blended teaching with "intelligent teaching" and "wisdom learning". After 6 months of internship, the two groups were compared in terms of the scores of theoretical assessment (basic theoretical knowledge and professional theoretical knowledge), clinical practice ability [Leicester Assessment Package (LAP)], and degree of satisfaction with teaching. SPSS 17.0 was used to perform the t-test and the chi-square test. Results:At the end of internship, compared with the control group, the observation group had significantly higher score of basic theoretical knowledge (41.53±3.42 vs. 38.71±3.38, P<0.05), score of professional theoretical knowledge (39.49±3.14 vs. 37.85±3.07, P<0.05), LAP score (84.32±6.65 vs. 78.46±6.17, P<0.05), and degree of satisfaction with teaching ( P<0.05). Conclusion:For interns majoring in integrated traditional Chinese and Western medicine, the blended teaching model of "intelligent teaching" and "wisdom learning" can strengthen their mastery of theoretical knowledge, enhance their clinical practice ability, and improve their degree of satisfaction with teaching.