Chromosome abnormalities in 245 cases of spontaneous abortion / 中华围产医学杂志

Objective To investigate the effect of maternal age,gestational weeks,numbers of previous spontaneous abortion and embryo gender on chromosomal abnormalities.Methods Bacs on Beads (BoBs) technology was used to detect the chromosome aneuploidy of 245 pregnant women with spontaneous abortion or stillbirth in Jinan Maternity and Child Care Hospital from January 2015 to December 2017 and to analyze the types of their chromosome abnormalities.Comparative analysis between different groups was carried out using Chi-square test.Results Karyotypes of all cases (n=245) were obtained using BoBs.Among them,113 had chromosome abnormalities (46.1％),including 66 autosomal aneuploidy (58.4％),26 sex chromosome aneuploidy (23.0％),seven autosomal partial trisomy (6.2％),five autosomal partial monomer (4.4％),seven triploid (6.2％),one complex triploid (0.9％) and one double trisomy (0.9％).Pregnant women aged over 35 had a higher incidence of chromosome abnormality than those under 35 [61.0％ (36/59) vs 41.4％ (77/186),x2=8.003,P＜0.05].The incidence of chromosome abnormality of women aborted in the first-trimester was also higher than those aborted in the second-trimester [48.5％ (99/204) vs 34.2％ (14/41),x2=4.634,P＜0.05].Moreover,male embryos were more likely to have chromosome abnormality than female ones [57.6％ (49/85) vs 40.0％(64/160),x2=6.483,P＜0.05)].However,there was no significant difference between gravidas with different times of spontaneous abortion (0,1 or ≥ 2,P＞0.05).Conclusions Chromosome abnormality is a major cause of spontaneous abortion,particularly in embryos with chromosome aneuploidy,partial trisomy,partial monomer and triploid.Advanced maternal age may increase the risk of chromosome abnormalities in pregnancies complicated with spontaneous abortion or stillbirth.

Analysis of genomic copy number variations in fetuses with conotruncal defects using single nucleotide polymorphism array / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To assess the value of single nucleotide polymorphism array (SNP array) for the study of fetuses with conotruncal defects (CTD) detected by echocardiography.</p><p><b>METHODS</b>SNP array was carried out on 75 fetuses with sonographically detected CTD but a normal karyotype. The results were analyzed with ChAS software.</p><p><b>RESULTS</b>Pathogenic CNVs were detected in 7 (9.3%) of all cases. Variant of uncertain significance (VOUS) was detected in 2 (2.7%) cases. Benign CNVs were detected in 19 (25.3%) cases.</p><p><b>CONCLUSION</b>SNP array is an effective method for delineating the etiology of fetuses with CTD, particularly for those with a normal karyotype.</p>