Department of Obstetrics and Gynecology, Columbia University Medical Center, and Maternal Fetal Medicine Associates PLLC and the Department of Obstetrics, Gynecology, and Reproductive Science, Icahn School of Medicine, Mount Sinai School, New York, New York; the Center for Fetal Medicine and Women's Ultrasound and the Department of Obstetrics and Gynecology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California; the George Washington University Biostatistics Center, Rockville, Maryland; and the Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
Obstet Gynecol. 2014 Jul;124(1):83-90. doi: 10.1097/AOG.0000000000000336.
To evaluate the association of other-than-common benign copy number variants with specific fetal abnormalities detected by ultrasonogram.
Fetuses with structural anomalies were compared with fetuses without detected abnormalities for the frequency of other-than-common benign copy number variants. This is a secondary analysis from the previously published National Institute of Child Health and Human Development microarray trial. Ultrasound reports were reviewed and details of structural anomalies were entered into a nonhierarchical web-based database. The frequency of other-than-common benign copy number variants (ie, either pathogenic or variants of uncertain significance) not detected by karyotype was calculated for each anomaly in isolation and in the presence of other anomalies and compared with the frequency in fetuses without detected abnormalities.
Of 1,082 fetuses with anomalies detected on ultrasound scan, 752 had a normal karyotype. Other-than-common benign copy number variants were present in 61 (8.1%) of these euploid fetuses. Fetuses with anomalies in more than one system had a 13.0% frequency of other-than-common benign copy number variants, which was significantly higher (P<.001) than the frequency (3.6%) in fetuses without anomalies (n=1,966). Specific organ systems in which isolated anomalies were nominally significantly associated with other-than-common benign copy number variants were the renal (P=.036) and cardiac systems (P=.012) but did not meet significance after the adjustment.
When a fetal anomaly is detected on ultrasonogram, chromosomal microarray offers additional information over karyotype, the degree of which depends on the organ system involved.
: II.
评估超声检查发现的特定胎儿异常与其他非常见良性拷贝数变异的相关性。
将结构异常的胎儿与未检出异常的胎儿进行比较，以评估其他非常见良性拷贝数变异（即致病性或意义未明的变异）的发生频率。这是先前发表的美国国立儿童健康与人类发育研究所微阵列试验的二次分析。回顾超声报告，并将结构异常的详细信息输入非分层的基于网络的数据库。分别计算每种异常孤立存在和存在其他异常时未通过核型检测到的其他非常见良性拷贝数变异（即致病性或意义未明的变异）的频率，并与未检出异常的胎儿进行比较。
在 1082 例超声检查发现异常的胎儿中，752 例核型正常。这些正常二倍体胎儿中有 61 例（8.1%）存在其他非常见良性拷贝数变异。存在多个系统异常的胎儿其他非常见良性拷贝数变异的发生率为 13.0%，明显高于无异常胎儿（n=1966）的发生率（3.6%）（P<.001）。孤立异常与其他非常见良性拷贝数变异有显著关联的特定器官系统是肾脏（P=.036）和心脏系统（P=.012），但在调整后未达到显著水平。
当超声检查发现胎儿异常时，染色体微阵列分析比核型提供了更多的信息，其程度取决于涉及的器官系统。
II。
