Brun L, Dufour P, Savary J B, Valat A S, Boute O, Subtil D, Vaast P, Bourgeot P, Manouvrier S, de Martinville B, Puech F
Clinique de Gynécologie, Obstétrique et Néonatologie, Hôpital Jeanne de Flandre, CHRU de Lille, F 59037 Lille.
Presse Med. 2000 Dec 9;29(38):2082-6.
We describe the different ultrasound findings suggestive of trisomy 18.
We conducted a retrospective study in 40 cases of trisomy 18 diagnosed in the department of obstetrics at the Lille University Hospital between 1988 and 1998.
Eighty percent of the women in this series were multiparous. Mean maternal age at discovery of the trisomy as 33.2 years and the mean gestational age was 20.4 weeks. Fifty-five percent of the cases were discovered during the second trimester of pregnancy, 22.5% during the third trimester and 22.5% during the first trimester. One ultrasound abnormality, at least, was detected in 36/40 cases (90%) a percentage that reached 96.8% taking into consideration the ultrasound examinations performed during the second and third trimesters (30/31 cases). The most frequently detected ultrasound abnormalities were: intra uterine growth retardation (IUGR: 50%), poly-hydramnios (42.5%), limb abnormalities (42.5%), cardiac defects (30%), facial abnormalities (37.5%), meningomyelocele (32.5%), digestive abnormalities (32.5%), urinary tract abnormalities (27.5%), lymphangiectasia and cystic hygroma (15%), and single umbilical artery (12.5%). Medical termination of pregnancy (TOP) was performed in 28 cases. There was one spontaneous miscarriage at 8 weeks and one in utero death (IUD) at 39 weeks in a patient who desired to continue her pregnancy. In 6 cases, the issue of the pregnancy was unknown because the patients were lost to follow-up. In 4 cases (10%), pregnancy was continued to delivery of live babies that only survived a few minutes to 7 days.
The ultrasound signs suggestive of trisomy 18 change according to the term of pregnancy. At the first trimester, most of the signs are nonspecific, such as cystic hydroma or lymphangiectasia, and do not suggest the need for a karyotype. At the end of the second trimester, an association of various signs that alone would not be highly suspect suggest the need for further exploration in search of other signs: early IUGR, associated or not with poly-hydramnios, limb abnormalities, cardiac defects, omphalocele, diaphragmatic hernia, meningomyelocele, enlarged cisterna magna, choroid plexus cysts, single umbilical artery, facial dysmorphism, facial cleft, hydronephrosis.
我们描述提示18三体综合征的不同超声检查结果。
我们对1988年至1998年期间在里尔大学医院产科确诊的40例18三体综合征病例进行了回顾性研究。
该系列中80%的女性为经产妇。发现三体综合征时的平均产妇年龄为33.2岁，平均孕周为20.4周。55%的病例在妊娠中期被发现，22.5%在妊娠晚期，22.5%在妊娠早期。40例中有36例（90%）至少检测到一项超声异常，若考虑妊娠中期和晚期进行的超声检查（31例中的30例），这一比例达到96.8%。最常检测到的超声异常有：宫内生长受限（IUGR：50%）、羊水过多（42.5%）、肢体异常（42.5%）、心脏缺陷（30%）、面部异常（37.5%）、脊髓脊膜膨出（32.5%）、消化系统异常（32.5%）、泌尿系统异常（27.5%）、淋巴管扩张和囊状水瘤（15%）以及单脐动脉（12.5%）。28例进行了人工流产。有1例在8周时自然流产，1例在39周时发生宫内死亡（IUD），该患者希望继续妊娠。6例患者因失访妊娠结局不明。4例（10%）继续妊娠至分娩出活婴，但婴儿仅存活了几分钟至7天。
提示18三体综合征的超声征象随孕周而变化。在妊娠早期，大多数征象是非特异性的，如囊状水瘤或淋巴管扩张，并不提示需要进行核型分析。在妊娠中期末，多种单独来看并非高度可疑的征象联合出现提示需要进一步检查以寻找其他征象：早期宫内生长受限，无论是否合并羊水过多、肢体异常、心脏缺陷、脐膨出、膈疝、脊髓脊膜膨出、枕大池增宽、脉络丛囊肿、单脐动脉、面部畸形、面部裂、肾积水。
