利用早期羊水样本进行某些代谢性疾病的产前诊断：15年经验报告
Prenatal diagnosis of some metabolic diseases using early amniotic fluid samples: report of a 15 years, experience.
作者信息
Chadefaux-Vekemans B, Rabier D, Cadoudal N, Lescoat A, Chabli A, Aupetit J, Dumez Y, Oury J F
机构信息
Service de Biochimie B, Groupe Hospitalier Necker-Enfants Malades, Paris, France.
出版信息
Prenat Diagn. 2006 Sep;26(9):814-8. doi: 10.1002/pd.1509.
BACKGROUND
In the present study, we report the results of 132 prenatal diagnoses performed on chorionic villi and cell-free amniotic fluid obtained simultaneously at 12-13 weeks of gestation. In addition, we report the result of 59 prenatal diagnoses performed at 12-13th week using amniotic fluid only.
METHODS AND RESULTS
A total of one fetal loss (1/191) was observed when a sample of amniotic fluid was obtained at around 12-13 weeks, whereas three losses (3/82) were observed after midtrimester amniocentesis. We attribute this finding to the fact that only a very small volume of amniotic fluid was sampled using a very small needle.
CONCLUSION
From these data it appears that when a couple is facing a high risk of recurrence of some metabolic diseases, the study of chorionic villus and amniotic fluid sampled simultaneously offers a safe and reliable method of early prenatal diagnosis.
背景
在本研究中，我们报告了对妊娠12至13周时同时获取的绒毛膜绒毛和游离羊水进行的132例产前诊断结果。此外，我们还报告了仅使用羊水在第12至13周进行的59例产前诊断结果。
方法与结果
在大约12至13周获取羊水样本时，共观察到1例胎儿丢失（1/191），而在孕中期羊膜腔穿刺术后观察到3例丢失（3/82）。我们将这一发现归因于使用非常小的针头仅抽取了非常少量的羊水这一事实。
结论
从这些数据来看，当一对夫妇面临某些代谢疾病复发的高风险时，同时对绒毛膜绒毛和羊水进行研究提供了一种安全可靠的早期产前诊断方法。
Zotero 插件