National Perinatal Epidemiology Unit, University of Oxford, Oxford, UK.
BJOG. 2012 Aug;119(9):1131-40. doi: 10.1111/j.1471-0528.2012.03373.x. Epub 2012 Jun 7.
To review changes in and impact of prenatal screening and diagnosis.
Population-based congenital anomaly register study.
Oxfordshire.
Congenital anomalies confirmed and those suspected prenatally, delivered 1991-2008.
Analysis of proportions of congenital anomalies confirmed and those suspected prenatally.
Birth prevalence, prenatal detection rates, pregnancy outcomes.
A total of 2651 (2.3%) infants/fetuses had a congenital anomaly diagnosed. There were 3839 suspected or confirmed cases, 2847 due to a prenatal suspicion, of which 1659 had an anomaly confirmed at delivery, and 1188 false-positive diagnoses, 91% due to reporting ultrasound normal variants. The percentage of prenatal notifications rose from 48% in 1991-93 to 83-88% from 1996 to 2003 and dropped to 61% in 2006-08, partly reflecting changes in the reporting of normal variants. Reporting these increased the prenatal diagnosis rate from 53 to 63% with an increase in false-positive rate from 0.09 to 1.04%. A total of 722 (44% of prenatally detected affected fetuses) resulted in termination; 48% of these had chromosome anomalies, 34% had isolated structural anomalies, 7% had multiple anomalies, 10% had familial disorders; 42% had lethal anomalies and 58% would probably have survived the neonatal period giving an estimated 20% reduction in birth prevalence of congenital anomalies compatible with survival because of terminations.
There has been an improvement in prenatal detection of congenital anomalies over the two decades studied. The recognition that reporting normal variants, although increasing prenatal detection rates, leads to an increase in false-positive diagnoses has had an impact on practice that has redressed the balance between these two effects.
回顾产前筛查和诊断的变化及其影响。
基于人群的先天性畸形登记研究。
牛津郡。
1991 年至 2008 年期间确诊和疑似产前的先天性畸形儿。
分析确诊和疑似产前先天性畸形的比例。
出生率、产前检出率、妊娠结局。
共有 2651 名（2.3%）婴儿/胎儿被诊断出患有先天性畸形。共有 3839 例疑似或确诊病例，其中 2847 例是由于产前怀疑，其中 1659 例在分娩时确诊为异常，1188 例为假阳性诊断，91%是由于报告了超声正常变异。产前通知的比例从 1991 年至 1993 年的 48%上升到 1996 年至 2003 年的 83-88%，然后在 2006 年至 2008 年降至 61%，部分反映了正常变异报告方式的变化。报告这些正常变异增加了产前诊断率，从 53%增加到 63%，假阳性率从 0.09 增加到 1.04%。共有 722 例（产前检测出的受影响胎儿的 44%）导致终止妊娠；其中 48%有染色体异常，34%有孤立性结构异常，7%有多发性异常，10%有家族性疾病；42%有致死性异常，58%可能在新生儿期存活，估计由于终止妊娠，存活的先天性畸形出生率降低了 20%。
在过去的二十年中，产前对先天性畸形的检测有所改善。认识到虽然报告正常变异会提高产前检出率，但也会导致假阳性诊断的增加，这对实践产生了影响，从而平衡了这两种效应。
