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首页> 外文期刊>South African Journal of Obstetrics and Gynaecology >Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy
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Gestational outcomes of pregnant women who have had invasive prenatal testing for the prenatal diagnosis of spinal muscular atrophy

机译：进行了侵入性产前检查以对产前诊断为脊髓性肌萎缩的孕妇进行妊娠

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Background and Objective: To notify the importance of the prenatal diagnosis of spinal muscular atrophy (SMA) and to demonstrate the gestational outcomes of disease carrier pregnant women who have had invasive prenatal testing (IPT). ??Methods: We?? retrospectively evaluated 113?? pregnancies of 76 patients who were referred to the Division of Perinatal Medicine, Hacettepe University, Ankara for the prenatal diagnosis of SMA inbetween 2000 and 2015. We evaluted the screening results and gestational outcomes of the patients.?? The pregnancy outcomes were compared to a control group of 179 patients .Beksac Obstetrics Index (BOI) was used for the comparison of obstetrical a??histories/backgroundsa?? of the study and control groups. Results: Chorionic villus sampling (CVS) and amniocentesis (AC) were performed 83 (73.5%) and 30 (26.5%) cases respectively. 24 (21.2%) of the fetuses were found to be disease positive and and 23 of them were terminated. The median gestational day at birth, median birthweights and median BOI of the study and control groups were?? compared and the difference was statistically significant (p0.001),(p=0.002),(p=0.001). Conclusion: Prenatal diagnosis of SMA is very important?? and nationwide special?? antenatal care program must be run for better diagnosis and eradication of this genetical disorder.
机译：背景与目的：告知产前诊断脊髓性肌萎缩症（SMA）的重要性，并证明进行侵入性产前检查（IPT）的疾病携带者孕妇的妊娠结局。方法：我们回顾性评估113 ??在2000年至2015年之间，将76例患者的妊娠转诊至安卡拉哈特佩特大学围产医学科进行SMA的产前诊断。我们评估了患者的筛查结果和妊娠结局。将妊娠结局与对照组的179例患者进行比较。Beksac产科指标（BOI）用于比较产科的“历史/背景”。研究和对照组。结果：分别进行了83例（73.5％）和30例（26.5％）的绒毛膜绒毛取样（CVS）和羊膜穿刺术（AC）。发现24例（21.2％）胎儿为疾病阳性，其中23例被终止。研究组和对照组的平均妊娠天数，平均出生体重和BOI中位数为？相比，差异具有统计学意义（p <0.001），（p = 0.002），（p = 0.001）。结论：产前SMA的诊断非常重要？和全国特价？？必须运行产前保健计划，以更好地诊断和根除这种遗传疾病。

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