Department of Obstetrics and Gynaecology, Monash University, Melbourne, Victoria, Australia.
Women's and Newborn, Monash Health, Melbourne, Victoria, Australia.
Prenat Diagn. 2021 Dec;41(13):1675-1684. doi: 10.1002/pd.6055. Epub 2021 Oct 21.
To determine the proportion of major fetal structural abnormalities that can be detected before 11 gestational weeks.
We conducted a retrospective study of individual patient files at a tertiary provider of obstetric and gynecological ultrasound in Melbourne, Australia. All women who had a pre-cell-free DNA ultrasound with a crown-rump length of less than 45 mm and had one or more ultrasounds at a later gestation were included in the analysis. The primary outcome was the incidence of a fetal structural abnormality.
A total of 3333 cases were included in the final analysis. Overall, 316 fetuses (9.5%) had a structural abnormality detected at any point throughout gestation, of which 86 were major structural abnormalities (2.6%). Sixteen fetal abnormalities were detected before 11 weeks of gestation, including 15 major abnormalities (17.4% of the major anomalies). All major fetal abnormalities detected before 11 gestational weeks were confirmed at later ultrasound examinations or the pregnancy did not continue (in four cases due to termination of pregnancy and in one case spontaneous miscarriage before first trimester morphology ultrasound).
Detection of fetal abnormalities is possible before 11 weeks of gestation. Early suspicion is more likely in cases of major structural abnormalities.
确定在 11 孕周之前可以检测到的主要胎儿结构异常的比例。
我们对澳大利亚墨尔本一家妇产科超声三级提供者的个别患者病历进行了回顾性研究。所有接受过小于 45 毫米头臀长的无细胞游离 DNA 超声检查且在以后妊娠期间进行过一次或多次超声检查的女性均纳入分析。主要结局是胎儿结构异常的发生率。
共有 3333 例病例纳入最终分析。总体而言，316 例胎儿（9.5%）在整个妊娠期的任何时候都发现有结构异常，其中 86 例为主要结构异常（2.6%）。16 例胎儿异常在 11 孕周之前被检测到，包括 15 例主要异常（17.4%的主要异常）。在 11 孕周之前检测到的所有主要胎儿异常均在以后的超声检查中得到证实，或妊娠未继续（4 例因终止妊娠，1 例在孕早期形态学超声检查前自然流产）。
在 11 孕周之前可以检测到胎儿异常。在存在主要结构异常的情况下，早期怀疑的可能性更大。
