Becker R, Wegner R-D
Center for Prenatal Diagnosis, Berlin, Germany.
Ultrasound Obstet Gynecol. 2006 Jun;27(6):613-8. doi: 10.1002/uog.2709.
To assess the diagnostic efficacy of the first-trimester anomaly scan including first-trimester fetal echocardiography as a screening procedure in a 'medium-risk' population.
In a prospective study, we evaluated 3094 consecutive fetuses with a crown-rump length (CRL) of 45-84 mm and gestational age between 11 + 0 and 13 + 6 weeks, using transabdominal and transvaginal ultrasonography. The majority of patients were referred without prior abnormal scan or increased nuchal translucency (NT) thickness, the median maternal age was, however, 35 (range, 15-46) years, and 53.8% of the mothers (1580/2936) were 35 years or older. This was therefore a self-selected population reflecting an increased percentage of older mothers opting for prenatal diagnosis. The follow-up rate was 92.7% (3117/3363).
The prevalence of major abnormalities in 3094 fetuses was 2.8% (86/3094). The detection rate of major anomalies at the 11 + 0 to 13 + 6-week scan was 83.7% (72/86), 51.9% (14/27) for NT < 2.5 mm and 98.3% (58/59) for NT >or= 2.5 mm. The prevalence of major congenital heart defects (CHD) was 1.2% (38/3094). The detection rate of major CHD at the 11 to 13 + 6-week scan was 84.2% (32/38), 37.5% (3/8) for NT < 2.5 mm and 96.7% (29/30) for NT >or= 2.5 mm.
The overall detection rate of fetal anomalies including fetal cardiac defects following a specialist scan at 11 + 0 to 13 + 6 weeks' gestation is about 84% and is increased when NT >or= 2.5 mm. This extends the possibilities of a first-trimester scan beyond risk assessment for fetal chromosomal defects. In experienced hands with adequate equipment, the majority of severe malformations as well as major CHD may be detected at the end of the first trimester, which offers parents the option of deciding early in pregnancy how to deal with fetuses affected by genetic or structural abnormalities without pressure of time.
评估孕早期超声检查（包括孕早期胎儿超声心动图）作为“中度风险”人群筛查方法的诊断效能。
在一项前瞻性研究中，我们使用经腹和经阴道超声检查，对3094例连续的胎儿进行了评估，这些胎儿的头臀长（CRL）为45 - 84 mm，孕周在11⁺⁰至13⁺⁶周之间。大多数患者在转诊前没有异常超声检查或颈项透明层（NT）厚度增加的情况，然而，母亲的年龄中位数为35岁（范围15 - 46岁），53.8%的母亲（1580/2936）年龄为35岁或以上。因此，这是一个自我选择的人群，反映了选择产前诊断的高龄母亲比例增加。随访率为92.7%（3117/3363）。
3094例胎儿中主要异常的患病率为2.8%（86/3094）。在11⁺⁰至13⁺⁶周超声检查时主要异常的检出率为83.7%（72/86），NT<2.5 mm时为51.9%（14/27），NT≥2.5 mm时为98.3%（58/59）。主要先天性心脏病（CHD）的患病率为1.2%（38/3094）。在11至13⁺⁶周超声检查时主要CHD的检出率为84.2%（32/38），NT<2.5 mm时为37.5%（3/8），NT≥2.5 mm时为96.7%（29/30）。
在妊娠11⁺⁰至13⁺⁶周进行专业超声检查后，包括胎儿心脏缺陷在内的胎儿异常总体检出率约为84%，当NT≥2.5 mm时检出率会增加。这扩展了孕早期超声检查的可能性，使其超出了胎儿染色体缺陷风险评估的范围。在经验丰富且设备充足的情况下，大多数严重畸形以及主要CHD在孕早期末即可被检测到，这为父母提供了在妊娠早期决定如何处理受遗传或结构异常影响胎儿的选择，而无需承受时间压力。
