Wapner Ronald J, Levy Brynn
Department of Obstetrics and Gynecology, Columbia University Medical Center, 622 West 168 St., New York, NY 10032, USA.
Department of Pathology and Cell Biology, Columbia University Medical Center, 622 West 168 St., New York, NY 10032, USA.
Discov Med. 2014 Jun;17(96):313-8.
Recent advances in the clinical application of genomic technologies have significantly impacted the field of prenatal diagnosis. Central to these advances has been the implementation of chromosomal microarray analysis (CMA). Microdeletions and microduplications, undetectable by traditional karyotyping, have recently been confirmed to play a role in altered neurocognitive development. CMA is now recommended for fetuses with structural anomalies. However, CMA comes with an increased need and role for genetic counseling, because the potential genomic information available is exponentially increased. CMA also can be performed on a small number of preimplantation embryonic cells for assessment of the embryo's reproductive potential. Implementation of these new genomic techniques in an in vitro fertilization setting has already demonstrated significant improvements in reproductive outcome. Techniques are now being developed to eliminate the necessity for invasive prenatal diagnosis procedures. Currently in its infancy, noninvasive prenatal testing using cell-free fetal DNA from maternal blood has already improved the sensitivity for detection of the common aneuploidies and current efforts are focused on identifying select microdeletions. The explosion of new genomic technologies continues to offer great benefits. However, each needs critical assessment prior to adoption in a clinical setting.
基因组技术临床应用的最新进展对产前诊断领域产生了重大影响。这些进展的核心是染色体微阵列分析（CMA）的实施。传统核型分析无法检测到的微缺失和微重复，最近已被证实与神经认知发育改变有关。现在建议对有结构异常的胎儿进行CMA检测。然而，由于可获得的潜在基因组信息呈指数级增长，CMA对遗传咨询的需求和作用也相应增加。CMA还可以对少量植入前胚胎细胞进行检测，以评估胚胎的生殖潜力。在体外受精环境中实施这些新的基因组技术已经显著改善了生殖结局。目前正在开发一些技术，以消除侵入性产前诊断程序的必要性。目前尚处于起步阶段的利用母血中游离胎儿DNA进行的无创产前检测，已经提高了常见非整倍体检测的灵敏度，目前的工作重点是识别特定的微缺失。新基因组技术的迅猛发展继续带来巨大益处。然而，在临床应用之前，每项技术都需要进行严格评估。
