Berg K A, Clark E B, Astemborski J A, Boughman J A
Department of Obstetrics and Gynecology, University of Maryland School of Medicine, Baltimore 21201.
Am J Obstet Gynecol. 1988 Aug;159(2):477-81. doi: 10.1016/s0002-9378(88)80113-3.
Prenatal diagnosis of congenital cardiovascular malformations by echocardiography may signal associated chromosome abnormalities. The exact proportion of these associations is not known but is expected to be higher than that with live-birth. To estimate the risk that a fetus with an echocardiographically detected heart defect has an autosomal trisomy or Turner syndrome, we adjusted the known frequency of aneuploidy in live-born infants with congenital cardiovascular malformations by the reported rate of spontaneous abortion, with data from a population-based case-control study of congenital cardiovascular malformations in which 268 cases (12.7%) had both congenital cardiovascular malformations and a chromosome abnormality. Included in the present analysis were 188 aneuploid infants with congenital cardiovascular malformations that would have been detectable by fetal echo. When data are adjusted for the high spontaneous abortion rate of aneuploid fetuses, we estimate that there would have been more than a threefold increase in aneuploidy over the 13% seen at live-birth. Thus cytogenetic analysis is appropriate in a fetus with echo-diagnosed congenital cardiovascular malformations.
通过超声心动图对先天性心血管畸形进行产前诊断可能提示存在相关的染色体异常。这些关联的确切比例尚不清楚，但预计高于活产儿中的比例。为了评估超声心动图检测到心脏缺陷的胎儿患常染色体三体或特纳综合征的风险，我们根据报道的自然流产率，对先天性心血管畸形活产婴儿中已知的非整倍体频率进行了调整，数据来自一项基于人群的先天性心血管畸形病例对照研究，其中268例（12.7%）既有先天性心血管畸形又有染色体异常。本分析纳入了188例患有先天性心血管畸形的非整倍体婴儿，这些畸形在胎儿期通过超声检查本应可被检测到。当针对非整倍体胎儿的高自然流产率对数据进行调整后，我们估计非整倍体发生率将比活产时所见的13%增加三倍以上。因此，对于超声诊断为先天性心血管畸形的胎儿，进行细胞遗传学分析是合适的。
