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首页> 外文期刊>Acta Obstetricia et Gynecologica Scandinavica: Official Publication of the Nordisk Forening for Obstetrik och Gynekologi >Prenatal diagnosis: Array comparative genomic hybridization in fetuses with abnormal sonographic findings
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Prenatal diagnosis: Array comparative genomic hybridization in fetuses with abnormal sonographic findings

机译：产前诊断：超声检查发现异常的胎儿的阵列比较基因组杂交

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Objective. To evaluate the clinical value of a high-resolution whole-genome array method for examination of genomic imbalances in prenatal samples (46 amniotic fluid, 17 chorionic villus, and 26 products of conception) from fetuses with abnormal ultrasound, in a clinical setting where more than 90% of pregnant women receive first-trimester combined screening and a second-trimester anomaly scan. Design. Cross-sectional study. Setting. Fetal medicine units (national healthcare system) in Central and North Denmark Regions from March 2009 to April 2012. Samples Eighty-nine samples obtained at 11.5-35.0 (mean 19.3) gestational weeks, either during ongoing pregnancy or after termination. Methods. DNA was extracted directly from amniotic fluid cells and chorionic villus samples, or from cultured cells, and examined with 80-kb resolution oligonucleotide array-based comparative genomic hybridization (aCGH). Main outcome measures. Clinically significant copy number variations identified by aCGH. Results. We detected clinically significant copy number variations in 11 fetuses (12%, confidence interval 6.0-19%) with structural malformations. Three fetuses (3.4%) had uncertain clinical significant variations and incidental findings. Conclusions. aCGH is a valuable diagnostic tool when fetal malformations are detected. More affected fetuses may be diagnosed at an earlier gestational age providing better possibilities for postnatal treatment and allowing for women to decide earlier on termination of pregnancy. When a normal result has reduced the risk of significant chromosomal aberration, aCGH may facilitate parental decision-making on whether to continue the pregnancy.
机译：目的。为了评估高分辨率全基因组阵列方法检查异常超声胎儿的产前样品（46羊水，17绒毛膜绒毛和26种受孕产物）中的基因组失衡的临床价值，其中更多超过90％的孕妇接受了孕中期联合筛查和孕中期异常扫描。设计。横断面研究。设置。从2009年3月至2012年4月在丹麦中部和北丹麦地区的胎儿医学部门（国家医疗保健系统）。样本在持续妊娠期间或终止妊娠后的11.5-35.0（平均19.3）妊娠周获得89份样本。方法。直接从羊水细胞和绒毛膜绒毛样品中或从培养的细胞中提取DNA，并用基于80 kb分辨率寡核苷酸阵列的比较基因组杂交（aCGH）进行检查。主要观察指标。由aCGH鉴定的临床上显着的拷贝数变异。结果。我们检测到11例具有结构畸形的胎儿的临床显着拷贝数变异（12％，置信区间6.0-19％）。 3例胎儿（3.4％）具有不确定的临床显着变异和偶然发现。结论当检测到胎儿畸形时，aCGH是有价值的诊断工具。可以在更早的胎龄诊断出更多受影响的胎儿，从而为产后治疗提供更好的可能性，并允许妇女更早地决定终止妊娠。当正常结果降低了重大染色体畸变的风险时，aCGH可能有助于父母决定是否继续妊娠。

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