Medeira A, Norman A, Haslam J, Clayton-Smith J, Donnai D
Regional Genetics Centre, St. Mary's Hospital, Manchester, U.K.
Prenat Diagn. 1994 May;14(5):381-5. doi: 10.1002/pd.1970140507.
In the North-Western Region we offer a service to examine fetuses aborted after the diagnosis of fetal abnormalities. Many obstetricians use this service. We examined 343 mid-trimester fetuses over the last 5 years: 215 following an abnormal scan and 128 abnormal amniotic fluid or villus findings. When necessary, investigations were performed. A post-mortem examination was always required. As a result of fetal investigation, the scan diagnosis was modified or refined in 91 cases (42.3 per cent). In three of these cases no fetal abnormality was found. For the fetuses diagnosed as abnormal by amniocentesis or chorionic villus biopsy, in one (0.8 per cent) the pre-termination diagnosis was not confirmed. The results were similar to those of our previous 5-year study except (a) diagnosis of neural tube defects was rarely based on amniocentesis in the present study (2/62, 3.2 per cent) compared with the previous one (32/103, 31 per cent), and (b) renal abnormalities were more often diagnosed in the pre-termination scan in the present study. We conclude that the examination of aborted mid-trimester fetuses by dysmorphologists continues to improve diagnosis, allowing more accurate genetic counselling for the families.
在西北地区，我们提供一项针对诊断出胎儿异常后流产的胎儿进行检查的服务。许多产科医生都使用这项服务。在过去5年里，我们检查了343例孕中期胎儿：215例是在超声扫描异常后进行检查的，128例是在羊水或绒毛检查结果异常后进行检查的。必要时会进行进一步检查。尸检是必不可少的。通过对胎儿的检查，91例（42.3%）的超声诊断得到了修正或完善。其中有3例未发现胎儿异常。对于经羊膜穿刺术或绒毛取样活检诊断为异常的胎儿，有1例（0.8%）终止妊娠前的诊断未得到证实。结果与我们之前的5年研究相似，只是（a）在本研究中，神经管缺陷的诊断很少基于羊膜穿刺术（2/62，3.2%），而在之前的研究中这一比例为（32/103，31%）；（b）在本研究中，肾脏异常在终止妊娠前的超声扫描中更常被诊断出来。我们得出结论，畸形学家对流产的孕中期胎儿进行检查继续改善了诊断，从而能够为家庭提供更准确的遗传咨询。
