Kucińska-Chahwan Anna, Roszkowski Tomasz, Debski Romuald
Klinika Połoznictwa i Ginekologii CMKP, Warszawie.
Ginekol Pol. 2004 Nov;75(11):831-9.
Our objectives were to determine the risk of aneuploidy and anatomic anomalies in fetuses with different kinds of abdominal wall defects.
We retrospectively studied ultrasound reports of the fetuses with abdominal wall defects.
We analyzed 108 cases diagnosed during the last five years in our center. All fetuses underwent a detailed ultrasonographic survey and in majority of cases (78.8%) antenatal karyotyping was performed. We also analyzed gestational age at the first examination.
35 cases presented gastroschisis, 60 omphalocele, 7 ectopia cordis and 6 limb-body wall complex. Associated anomalies were detected in 48.1% of all cases. It was 22.9% in gastroschisis group, 58.3% in omphalocele group, 42.9% in ectopia cordis group and in all fetuses with limb-body wall complex. Chromosomal abnormalities were present in 13% of all cases; in 2.9% of gastroschisis group, 20% of omphalocele group, 16.7% of limb-body wall complex group and none of the fetuses with ectopia cordis. The median gestational age at the first examination was 24 weeks.
In fetuses with abdominal wall defects detailed ultrasonographic survey and in majority of cases prenatal karyotyping should be done. Furthermore patients with fetus with such a defect should be diagnosed as early as possible in the referral center.
我们的目的是确定患有不同类型腹壁缺陷的胎儿出现非整倍体和解剖学异常的风险。
我们回顾性研究了腹壁缺陷胎儿的超声报告。
我们分析了本中心过去五年诊断出的108例病例。所有胎儿均接受了详细的超声检查,大多数病例(78.8%)进行了产前核型分析。我们还分析了首次检查时的孕周。
35例为腹裂,60例为脐膨出,7例为心外翻,6例为肢体-体壁复合体。在所有病例中,48.1%检测到相关异常。腹裂组为22.9%,脐膨出组为58.3%,心外翻组为42.9%,所有肢体-体壁复合体胎儿均有相关异常。所有病例中13%存在染色体异常;腹裂组为2.9%,脐膨出组为20%,肢体-体壁复合体组为16.7%,心外翻胎儿均无染色体异常。首次检查时的孕周中位数为24周。
对于患有腹壁缺陷的胎儿,应进行详细的超声检查,大多数病例应进行产前核型分析。此外,转诊中心应尽早诊断出有此类缺陷胎儿的患者。