早孕期异常静脉导管血流：染色体正常和颈项透明层正常胎儿心脏缺陷的标志物。

Abnormal first-trimester ductus venosus blood flow: a marker of cardiac defects in fetuses with normal karyotype and nuchal translucency.

机构信息

Fetal-Maternal Medicine Service, ICGON, Hospital Clínic, University of Barcelona, Barcelona, Spain.

出版信息

Ultrasound Obstet Gynecol. 2010 Mar;35(3):267-72. doi: 10.1002/uog.7544.

DOI:10.1002/uog.7544

PMID:20052662

Abstract

OBJECTIVE

To evaluate the independent contribution of ductus venosus (DV) blood flow assessment at 11-14 weeks' gestation to the prediction of congenital heart defects (CHD) in chromosomally normal fetuses, irrespective of the value of the nuchal translucency thickness (NT).

METHODS

During a 4-year period, all singleton pregnancies from 11 + 0 to 13 + 6 weeks' gestation were scanned for NT and DV blood flow in a tertiary center. Abnormal DV blood flow was defined as either absent or reversed flow during atrial contraction (AR-DV). Fetal echocardiography was performed in all cases with either NT > 99(th) percentile or AR-DV. Follow-up was assessed by postnatal examination or autopsy in cases of termination of pregnancy or perinatal death.

RESULTS

A total of 6120 pregnancies were scanned at a median gestational age of 12 weeks, and 45 cases of CHD were detected. AR-DV was found in 206 fetuses, of which 145 (70.4%) had a normal karyotype. Among fetuses with AR-DV and normal karyotype, 11 cases of CHD were diagnosed, giving a sensitivity of 24.4%, a positive predictive value of 7.6% and an odds ratio of 9.8. Increased NT (> 99(th) centile) was present in 55 of the 145 (37.9%) cases with AR-DV and normal karyotype, and in 6/11 (54.5%) of those with CHD. Thus, the group of 90 fetuses with abnormal DV blood flow and normal NT contained five cases of CHD, for a sensitivity of 11.1%, a positive predictive value of 5.5% and an odds ratio of 8.5. Right-heart anomalies were predominant in those cases with isolated AR-DV (4/5), but no specific CHD pattern was found in those with increased NT. The detection rate of CHD by the combined use of increased NT and/or AR-DV in the first trimester improved from 28.9% (13/45) to 40.0% (18/45).

CONCLUSIONS

In experienced hands, abnormal DV blood flow in the first trimester is an independent predictor of CHD and should constitute an indication for early echocardiography. In this study, the use of DV blood flow assessment increased early detection of CHD by 11% with respect to the use of NT measurement alone.

摘要

目的

评估 11-14 周妊娠时静脉导管（DV）血流评估对预测正常染色体胎儿先天性心脏病（CHD）的独立贡献，而不考虑颈项透明层（NT）的价值。

方法

在 4 年期间，在一家三级中心对 11+0 至 13+6 周妊娠的所有单胎妊娠进行 NT 和 DV 血流扫描。异常的 DV 血流定义为心房收缩时（AR-DV）无血流或反流。所有 NT>第 99 百分位数或 AR-DV 的病例均进行胎儿超声心动图检查。对于终止妊娠或围产儿死亡的病例，通过产后检查或尸检进行随访评估。

结果

共对 6120 例妊娠进行了中位孕龄 12 周的扫描，发现 45 例 CHD。206 例胎儿出现 AR-DV，其中 145 例（70.4%）核型正常。在 AR-DV 且核型正常的胎儿中，诊断出 11 例 CHD，敏感性为 24.4%，阳性预测值为 7.6%，优势比为 9.8。在 AR-DV 且核型正常的 145 例中，55 例（37.9%）NT 增加（>第 99 百分位数），6/11 例（54.5%）CHD 中 NT 增加。因此，90 例 DV 血流异常且 NT 正常的胎儿中，有 5 例 CHD，敏感性为 11.1%，阳性预测值为 5.5%，优势比为 8.5。孤立性 AR-DV 中右心畸形为主（4/5），但 NT 增加者无特定 CHD 模式。通过联合使用 NT 和/或 AR-DV 增加，CHD 的检出率从 28.9%（13/45）提高到 40.0%（18/45）。