Service de Radiopédiatrie, Hôpital Armand-Trousseau, AP-HP, Médecine Sorbonne Université, Paris, France,
Service de Médecine Fœtale, Centre de Référence Maladies Rares MAVEM, Hôpital Armand-Trousseau, AP-HP, Médecine Sorbonne Université, Paris, France.
Fetal Diagn Ther. 2021;48(9):690-700. doi: 10.1159/000519060. Epub 2021 Oct 29.
The aim of the study was to report a subtype of dysraphism designated as myelic limited dorsal malformation (MyeLDM) and to describe its characteristics at prenatal ultrasound (US).
It was a retrospective study from 2014 to 2020 based on second-line US evaluation of patients referred to our institution for myelomeningocele (MMC). Magnetic resonance imaging and acetylcholine esterase evaluation in the amniotic fluid were also offered. Major and minor criteria for open and closed dysraphism were defined and recorded for each patient. Patients were included as MyeLDM when both criteria of closed and open dysraphism were observed in the same fetus. Correlations were obtained with the postpartum data.
Twenty patients fulfilled the inclusion criteria, some of them being very close to MMC, others very close to limited dorsal myeloschisis (LDM), and others lying in between. There were 13 live-born neonates and 7 terminations of pregnancy. Correlations between prenatal and postpartum data were overall very good.
Our series describe the ultrasonographic characteristics of an intermediate type of dysraphism and suggest that there is a continuum between MMC and LDM with numerous possibilities of hybrid forms (MyeLDM) sharing characteristics of both open and closed dysraphisms.
本研究旨在报告一种指定为髓性局限性背侧畸形（MyeLDM）的畸形亚型，并描述其在产前超声（US）中的特征。
这是一项回顾性研究，基于对 2014 年至 2020 年期间转诊至我院的脊髓脊膜膨出症（MMC）患者进行二线 US 评估。还提供了磁共振成像和羊水乙酰胆碱酯酶评估。为每个患者定义并记录了开放性和闭合性畸形的主要和次要标准。当同一胎儿同时观察到开放性和闭合性畸形的标准时，将患者纳入 MyeLDM。获得了与产后数据的相关性。
20 名患者符合纳入标准，其中一些非常接近 MMC，另一些非常接近局限性背侧脊髓裂（LDM），还有一些介于两者之间。有 13 名活产新生儿和 7 例终止妊娠。产前和产后数据之间的相关性总体非常好。
我们的系列描述了一种中间类型的畸形的超声特征，并表明 MMC 和 LDM 之间存在连续性，具有多种混合形式（MyeLDM）的可能性，具有开放性和闭合性畸形的共同特征。
