Ferreira O, Morvan J, Bernard A M, Verjut J P, Cleophax J P
Service de Gynécologie-Obstétrique, Centre Hospitalier Général de Montmorency.
J Gynecol Obstet Biol Reprod (Paris). 1989;18(3):349-54.
The authors report a case of antenatal diagnosis which is original in that a maternal illness was discovered that had not been thought of until then. Steinert's myotonic dystrophy can show up in two types after birth, a congenital type and a lethal type. The antenatal diagnosis at present consists in a combination of hydramnios and lack of fetal movements on ultrasound. The obstetrical complications are the threat of premature labour and, often, breech presentation. The method of delivery will depend on how severely the fetus is affected; which is worked out by looking for features of poor prognosis. In the future it will be possible to make an antenatal diagnosis by villus biopsy with the discovery of the responsible gene.
作者报告了一例产前诊断病例，其独特之处在于发现了一种此前未曾想到的母体疾病。斯坦纳特肌强直性营养不良在出生后可表现为两种类型，即先天性类型和致死性类型。目前的产前诊断包括羊水过多和超声检查显示胎儿活动缺乏。产科并发症包括早产威胁，且常常出现臀位。分娩方式将取决于胎儿受影响的严重程度，这可通过寻找预后不良的特征来确定。未来，通过绒毛取样发现致病基因将有可能进行产前诊断。
