Department of Pediatrics, Division of Medical Genetics, Stanford University, Stanford, CA, USA.
Prenat Diagn. 2011 Apr;31(4):327-30. doi: 10.1002/pd.2646. Epub 2011 Feb 1.
Spinal muscular atrophy (SMA) is an autosomal recessive neurodegenerative disorder with a high carrier frequency in the general population. The severity of this disorder indicates the importance of early prenatal detection. In medical literature, there are a few published case reports of enlarged nuchal translucency (NT) measurement in association with a diagnosis of SMA in the fetus. Our goal is to determine whether SMA in infants is associated with a history of an increased NT measurement during pregnancy.
Using contact information obtained through SMA family support groups, women who had recently given birth to infants affected with SMA were identified and queried about NT ultrasound results during the pregnancy. NT values were confirmed via ultrasound report to determine whether SMA was associated with a history of an enlarged NT measurement.
Twelve SMA affected infants with confirmed NT results during the pregnancy were identified. All fetuses had normal NT values ranging from 0.7 to 2.4 mm.
In this series, SMA did not appear to be associated with an enlarged NT.
脊髓性肌萎缩症（SMA）是一种常染色体隐性神经退行性疾病，在普通人群中有很高的携带频率。这种疾病的严重程度表明早期产前检测的重要性。在医学文献中，有少数已发表的病例报告描述了与胎儿 SMA 诊断相关的增大的颈项透明层（NT）测量值。我们的目标是确定婴儿 SMA 是否与怀孕期间 NT 测量值增加的病史有关。
通过 SMA 家庭支持小组获得的联系信息，确定了最近分娩 SMA 患儿的女性，并询问其怀孕期间的 NT 超声结果。通过超声报告确认 NT 值，以确定 SMA 是否与增大的 NT 测量值病史有关。
确定了 12 例 SMA 受影响的婴儿，其在怀孕期间的 NT 结果得到了确认。所有胎儿的 NT 值均正常，范围在 0.7 至 2.4 毫米之间。
在本系列中，SMA 似乎与增大的 NT 无关。
