Celentano Claudio, Prefumo Federico, Iezzi Irene, Guanciali-Franchi Paolo Emilio, Palka Chiara, Liberati Marco, Rotmensch Sigfried
Department of Obstetrics and Gynecology, San Massimo Hospital, Penne, Italy.
J Med Screen. 2007;14(3):109-12. doi: 10.1258/096914107782066167.
To investigate the relationship between maternal serum screening markers and pregnancy outcome in fetuses with cystic hygroma at 15-18 weeks of gestation.
We retrospectively reviewed case-notes of 34 consecutive singleton fetuses with cystic hygroma referred at 15-18 weeks of gestation. All cases had maternal blood sampled for triple screening at the time of the ultrasound scan.
In total, 62% of fetuses with cystic hygroma had abnormal chromosome complements and 80% had a poor outcome. Six fetuses presenting normal values of human chorionic gonadotropin (0.5-2.5 MoM [multiples of the median]), serum alpha-fetoprotein (0.5-2.5 MoM) and unconjugated estriol (>0.5 MoM), normal karyotype and absence of associated structural anomalies had an uneventful outcome.
Our data demonstrated that cystic hygroma at 15-18 weeks has a strong association with chromosomal abnormalities. In euploid fetuses, maternal serum screening results may have a role in the diagnostic work-up of the pregnancy.
探讨妊娠15 - 18周时，母亲血清筛查标志物与胎儿囊状水瘤妊娠结局之间的关系。
我们回顾性分析了34例妊娠15 - 18周转诊的连续单胎胎儿囊状水瘤病例记录。所有病例在超声扫描时均采集了母亲血液进行三联筛查。
总体而言，62%的囊状水瘤胎儿染色体组异常，80%结局不良。6例胎儿人绒毛膜促性腺激素（0.5 - 2.5 MoM[中位数倍数]）、血清甲胎蛋白（0.5 - 2.5 MoM）和非结合雌三醇（>0.5 MoM）值正常，核型正常且无相关结构异常，结局良好。
我们的数据表明，妊娠15 - 18周时的囊状水瘤与染色体异常密切相关。在整倍体胎儿中，母亲血清筛查结果可能在妊娠诊断检查中发挥作用。
Zotero 插件