Division of Maternal Fetal Medicine and Reproductive Genetics, Department of Obstetrics and Gynecology, Brigham and Women's Hospital, Boston, MA, USA.
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of North Carolina at Chapel Hill School of Medicine, Chapel Hill, NC, USA.
Prenat Diagn. 2019 Aug;39(9):811-817. doi: 10.1002/pd.5532. Epub 2019 Aug 5.
Prenatal genomic evaluation of the fetus is available at decreasing cost and with a faster turnaround time. However, fetal genotype-phenotype correlations are in their infancy. By comparison, pediatric and adult genotype-phenotype databases are well established and publicly accessible. A similar system for fetal genomics is lacking. When a fetal anomaly is identified by ultrasound imaging, a genetic diagnosis provides important information. However, fetal prognostic counseling is problematic if the only available information is based on outcomes following postnatal diagnoses. The same conditions identified prenatally may have more benign or more deleterious outcomes. Also, the condition may evolve over the pregnancy itself. As genomic testing increasingly examines fetal DNA at a single nucleotide level, the concomitant in utero phenotype deserves equal attention. Often, the reports of fetal phenotype are limited. Among sonologists, an increased awareness of attaining and communicating detailed fetal phenotypes is needed. The interpretation of expanded prenatal sequencing is reliant on deeper fetal phenotyping. The information gained significantly impacts clinical care and understanding of fetal development. This case series highlights: the broad spectrum of fetal phenotypes for known genetic conditions, phenotype progression during pregnancy, and the need to supplement systematic imaging with descriptive details when assessing fetuses with malformations.
产前胎儿基因组评估的成本不断降低，周转时间也越来越快。然而，胎儿基因型-表型相关性仍处于起步阶段。相比之下，儿科和成人基因型-表型数据库已经建立并公开可用。胎儿基因组学缺乏类似的系统。当超声成像发现胎儿异常时，遗传诊断提供了重要信息。然而，如果唯一可用的信息是基于产后诊断的结果，那么胎儿预后咨询就存在问题。在产前确定的相同病症可能有更良性或更具危害性的结果。此外，病情可能在整个孕期发生变化。随着基因组检测越来越多地在单个核苷酸水平上检查胎儿 DNA，伴随的宫内表型同样值得关注。通常，胎儿表型的报告是有限的。在超声科医生中，需要提高对获得和传达详细胎儿表型的认识。扩展产前测序的解释依赖于更深入的胎儿表型。所获得的信息显著影响临床护理和对胎儿发育的理解。本病例系列强调了：已知遗传疾病的胎儿表型的广泛谱、孕期表型进展，以及在评估畸形胎儿时需要用描述性细节来补充系统成像的必要性。
