Hume R F, Kilmer-Ernst P, Wolfe H M, Ebrahim S A, Treadwell M C, Johnson M P, Evans M I
Department of Obstetrics and Gynecology, Wayne State University, Detroit, Michigan, USA.
Am J Obstet Gynecol. 1995 Oct;173(4):1334-6. doi: 10.1016/0002-9378(95)91382-3.
Our purpose was to determine the distribution of karyotypic abnormalities detected at prenatal diagnosis, fetal anomalies, and ability for fluorescent in situ hybridization detection.
Our cytogenetic database from January 1988 to April 1994 was categorized according to type and potential detection by current standard fluorescent in situ hybridization probes. Fetal anomalies and cytogenetic aberrations were compared.
A total of 664 cases of abnormal fetal karyotypes were identified from 12,454 prenatal cytogenetic cases (7529 amniocenteses and 4925 chorionic villus sampling) and were classified as autosomal aneuploidy (331), sex aneuploidy (103), polyploidy (38), marker aneuploidy (19) and structural rearrangements (173). Standard fluorescent in situ hybridization probes would have missed 31% of the abnormal cases: 90 aneuploidy, 14 de novo marker aneuploidy, and 65 de novo structural aberrant cases. The 134 cases of structural chromosomal rearrangements with complete ultrasonographic records were further classified as polymorphism (42), familial (43), or de novo (49). Frequency of fetal anomaly detection by ultrasonography in de novo cases (22/49) was higher than other rearrangements (chi 2 7.4, p = 0.006).
The contribution of unusual aneuploidies (16%) and structural chromosomal rearrangements (26%) in prenatal diagnostic practice is significant. Fetal anomalies were detected by ultrasonography in 45% of the de novo rearrangement cases. Fluorescent in situ hybridization would miss 31% of the abnormal cases.
我们的目的是确定产前诊断时检测到的核型异常的分布、胎儿异常情况以及荧光原位杂交检测能力。
将我们从1988年1月至1994年4月的细胞遗传学数据库按照当前标准荧光原位杂交探针的类型和潜在检测情况进行分类。对胎儿异常情况和细胞遗传学畸变进行比较。
在12454例产前细胞遗传学病例（7529例羊膜腔穿刺术和4925例绒毛取样）中，共鉴定出664例胎儿核型异常，分类为常染色体非整倍体（331例）、性染色体非整倍体（103例）、多倍体（38例）、标记染色体非整倍体（19例）和结构重排（173例）。标准荧光原位杂交探针会漏检31%的异常病例：90例非整倍体、14例新发标记染色体非整倍体和65例新发结构畸变病例。134例有完整超声检查记录的染色体结构重排病例进一步分为多态性（42例）、家族性（43例）或新发（49例）。新发病例中超声检查发现胎儿异常的频率（22/49）高于其他重排情况（χ² 7.4，p = 0.006）。
在产前诊断实践中，不常见的非整倍体（16%）和染色体结构重排（26%）的贡献显著。在45%的新发重排病例中通过超声检查发现了胎儿异常。荧光原位杂交会漏检31%的异常病例。
