Gregg Anthony R
Department of Obstetrics and Gynecology, University of Florida College of Medicine, Gainesville, Florida.
Clin Obstet Gynecol. 2017 Dec;60(4):867-877. doi: 10.1097/GRF.0000000000000327.
One aim of prenatal care is to provide information to prospective parents. The information provided encompasses prenatal care, intrapartum and postpartum care. Learning the genetic constitution of the parents pre-conception or the ongoing pregnancy allows parents to make decisions and set expectations. Offering screening and diagnostic testing has been the main in satisfying the desire for prenatal genetic information. With rapid advances in genomics and genome sequencing, screening during an ongoing pregnancy may become obsolete. Preconception risk will be determined by whole exome sequencing and chromosomal microarray of prospective parents and a number of approaches to alter pregnancy outcome can be considered when genome variations are identified. Therapeutic approaches include mitochondrial transfer and gene editing, two technologies that are in early stages, but showing promise as tools to alter outcomes.
产前护理的一个目标是向准父母提供信息。所提供的信息涵盖产前护理、分娩期护理和产后护理。了解父母受孕前或孕期的基因构成，有助于父母做出决策并设定期望。提供筛查和诊断测试一直是满足产前基因信息需求的主要方式。随着基因组学和基因组测序的迅速发展，孕期筛查可能会过时。准父母的全外显子组测序和染色体微阵列将确定孕前风险，当识别出基因组变异时，可以考虑多种改变妊娠结局的方法。治疗方法包括线粒体转移和基因编辑，这两种技术尚处于早期阶段，但作为改变结局的工具显示出了前景。
