Boyd P A, Bhattacharjee A, Gould S, Manning N, Chamberlain P
Prenatal Diagnosis Unit, Women's Centre, Oxford Radcliffe Hospital.
Arch Dis Child Fetal Neonatal Ed. 1998 May;78(3):F209-13. doi: 10.1136/fn.78.3.f209.
One hundred consecutive cases of confirmed anterior abdominal wall defect, identified prenatally in the Oxford Prenatal Diagnosis Unit over 11 years, were studied. Fifty nine per cent of cases were suspected omphaloceles and 41% suspected gastroschisis. Fifty four per cent of omphaloceles were accompanied by other defects compared with 5% of those with gastroschisis. Overall, 29% of fetuses with omphalocele had an abnormal karyotype, and of those with another abnormality identified on scan (excluding four cases with no karyotype performed), 54% had an abnormal karyotype. Of the 27 cases with suspected isolated omphalocele, 14 were live born, all of whom have survived. If the 11 whose parents opted for termination of pregnancy are excluded, survival to birth was 88%. Six of the suspected isolated omphaloceles have Beckwith Wiedemann syndrome (BWS). Eight (57%) of the live born babies with omphaloceles had major problems up to the age of 2, but only one (7%) has long term major problems. This child has BWS and is deaf. Of the 39 cases of suspected isolated gastroschisis, 33 (85%) pregnancies resulted in live birth and one in neonatal death after surgery. Survival rate (excluding terminated pregnancies) was 97%. Gastroschisis was associated with a younger maternal age than omphalocele (p < 0.001) and lower birthweight centile (p < 0.01). Fifteen per cent of the gastroschisis babies had major problems up to the age of 2 years and 12% long term developmental problems. Ninety three per cent of the omphalocele babies and 88% of those who had gastroschisis have no long term problems. Over the study period there have been major changes in scanning equipment and expertise. Since 1991 no woman with a suspected isolated lesion has opted for termination of pregnancy.
对牛津产前诊断中心11年间确诊的100例连续的产前腹壁缺损病例进行了研究。59%的病例怀疑为脐膨出,41%怀疑为腹裂。54%的脐膨出伴有其他缺陷,而腹裂伴有其他缺陷的比例为5%。总体而言,29%的脐膨出胎儿染色体核型异常,在超声检查发现有其他异常的胎儿中(不包括4例未进行染色体核型检查的病例),54%染色体核型异常。在27例疑似单纯性脐膨出病例中,14例存活出生,且全部存活。如果排除11例父母选择终止妊娠的病例,出生存活率为88%。6例疑似单纯性脐膨出病例患有贝克威思-维德曼综合征(BWS)。8例(57%)存活出生的脐膨出婴儿在2岁前有严重问题,但只有1例(7%)有长期严重问题。该患儿患有BWS且失聪。在39例疑似单纯性腹裂病例中,33例(85%)妊娠存活分娩,1例术后新生儿死亡。存活率(不包括终止妊娠的病例)为97%。腹裂与母亲年龄小于脐膨出患者(p<0.001)以及出生体重百分位数较低(p<0.01)有关。15%的腹裂婴儿在2岁前有严重问题,12%有长期发育问题。93%的脐膨出婴儿和88%的腹裂婴儿没有长期问题。在研究期间,扫描设备和专业技术有了重大变化。自1991年以来,没有一位疑似单纯性病变的女性选择终止妊娠。