Department of Obstetrics, The Central Hospital of Wuhan, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, Hubei, PR China.
Department of Gynecology, Hubei Maternal and Child Health Hospital, Wuhan, Hubei, PR China.
Taiwan J Obstet Gynecol. 2020 Mar;59(2):338-341. doi: 10.1016/j.tjog.2020.01.029.
Here we present three cases of chromosomal abnormalities with favorable outcomes.
In Case 1, conventional karyotyping revealed a karyotype of 46, XY,t(7; 14) (q35; q13)[4]/46,XY[26]. Array comparative genomic hybridization (aCGH) analysis revealed no genomic imbalance. In Case 2, conventional karyotyping revealed a norma karyotype but aCGH analysis revealed a 3.2M chromosomal duplication (13q12.11q12.12(22, 073, 046_25, 230, 759)x3). In Case 3, aCGH analysis revealed a 5.5M chromosomal deletion (9q21.13q21.32 (78, 645, 382_84, 115, 555) x1). In all three cases, ultrasound examination showed no dysmorphisms and intrauterine growth restrictions (IUGRs) in the fetus. All three pregnancies resulted in phenotypically normal babies.
Chromosomal abnormalities may be associated with favorable outcomes. Combining conventional karyotyping, aCGH analysis and ultrasound results can provide a more accurate risk assessment for pregnant women with advanced age.
本文呈现了三例染色体异常但结局良好的病例。
在病例 1 中，常规核型分析显示核型为 46,XY,t(7;14)(q35;q13)[4]/46,XY[26]。阵列比较基因组杂交（aCGH）分析未发现基因组失衡。在病例 2 中，常规核型分析显示正常核型，但 aCGH 分析显示存在 3.2M 染色体重复（13q12.11q12.12(22,073,046_25,230,759)x3）。在病例 3 中，aCGH 分析显示存在 5.5M 染色体缺失（9q21.13q21.32(78,645,382_84,115,555)x1）。在这三例中，超声检查均未显示胎儿存在畸形和宫内生长受限（IUGR）。所有三例妊娠均导致表型正常的婴儿出生。
染色体异常可能与良好结局相关。结合常规核型分析、aCGH 分析和超声结果可以为高龄孕妇提供更准确的风险评估。
