Elsheikh Bakri H, Zhang Xiaoli, Swoboda Kathryn J, Chelnick Sharon, Reyna Sandra P, Kolb Stephen J, Kissel John T
a Neurology , Johns Hopkins Aramco Healthcare , Dhahran , Saudi Arabia.
b Center for Biostatistics , The Ohio State University Wexner Medical Center , Columbus , OH , USA.
Int J Neurosci. 2017 Nov;127(11):953-957. doi: 10.1080/00207454.2017.1281273. Epub 2017 Feb 5.
To expand the limited available knowledge about pregnancy and delivery in women with spinal muscular atrophy (SMA) using a cohort of genetically proven SMA patients from USA.
This was a cross-sectional questionnaire-based study. We mailed questionnaires to 58 women with confirmed SMA.
Thirty-two women responded, reporting 35 pregnancies, including 19 women with at least one pregnancy. In this cohort, preterm labor and delivery by cesarean section were more common in mothers with SMA particularly SMA type 2. Seventy-four percent of mothers reported increased weakness during pregnancy that persisted after delivery in 42%. SMA mothers generally had a positive experience and good outcomes and elected to have more than one pregnancy.
This information regarding pregnancy in women with genetically confirmed 5q SMA will prove useful in guiding future research and in providing counseling to women with SMA.
利用一组来自美国的经基因证实的脊髓性肌萎缩症（SMA）患者，拓展关于SMA女性妊娠和分娩的有限现有知识。
这是一项基于问卷调查的横断面研究。我们向58名确诊为SMA的女性邮寄了问卷。
32名女性做出回应，报告了35次妊娠，其中19名女性至少有过一次妊娠。在这个队列中，早产和剖宫产在SMA母亲中更为常见，尤其是2型SMA。74%的母亲报告孕期虚弱加重，42%的母亲产后仍持续虚弱。SMA母亲总体上有积极的体验和良好的结局，并选择多次妊娠。
这些关于基因确诊的5q SMA女性妊娠的信息，将有助于指导未来的研究，并为SMA女性提供咨询。
