产前超声诊断胎儿完全性房室间隔缺损的价值

Value of Prenatal Ultrasound in the Diagnosis of Fetal Complete Atrioventricular Septal Defect

目的探讨产前超声心动图诊断胎儿完全性房室间隔缺损(cAVSD)的临床价值。资料与方法回顾性分析2006～2010产前超声诊断的21例cAVSD胎儿的超声资料,分析其与染色体异常的关系及胎儿的临床结局。结果产前超声显示12例为单纯cAVSD,9例合并其他结构异常,即复合型cAVSD。12例单纯cAVSD胎儿中2例核型异常,9例复合型房室间隔缺损胎儿中6例核型异常。经产前咨询后,9例孕妇选择终止妊娠;12例胎儿中,4例宫内死亡,出生的8例胎儿中,2例未接受手术在新生儿期死亡;6例接受手术,4例存活均为单纯cAVSD。结论胎儿cAVSD常合并其他结构畸形,且与染色体异常关系密切。复合型cAVSD结局较差,单纯型cAVSD结局相对较好,但围生期胎儿丢失率超过50%。

Purpose To investigate the diagnostic value of prenatal ultrasound in fetal complete atrioventricular septal defect （cAVSD）.Materials and Methods The ultrasonic data of 21 cases of cAVSD diagnosed by prenatal ultrasound from 2006 to 2010 were retrospectively analyzed,and the relationship with chromosomal abnormality as well as fetal clinical outcomes were also explored.Results There were 12 sole cAVSD and 9 complicated with other malformations （complicated cAVSD）.Fetal karyotype analysis：2 with sole cAVSD had abnormal karyotype,and 6 out of the 9 complicated cAVSD had chromosomal abnormalities.Following prenatal counseling,9 couples chose termination.Of the 12 continuing pregnancies,4 were lost to follow-up.Of the 8 live births,2 were neonatal deaths without surgery while 6 babies underwent surgery and 4 had survived to date.All the survivors were sole cAVSD.Conclusion cAVSD is associated with chromosomal and other abnormalities.The outcome of complicated cAVSD is poor,and the outcome of sole cAVSD is better.But the survivors don’t reach half of the sole cAVSD.