Costa D, Borrell A, Soler A, Carrió A, Margarit E, Ballesta F, Puerto B, Caballín M R, Fortuny A
Prenatal Diagnosis Unit, Genetic Service, Hospital Clinic, University of Barcelona, Spain.
Fetal Diagn Ther. 1998 May-Jun;13(3):169-75. doi: 10.1159/000020832.
In order to assess the effectiveness and reliability of cytogenetic diagnosis provided by fetal blood, we report the first 186 cases of fetal blood sampling performed for rapid karyotype between 19-37 weeks of pregnancy in our Prenatal Diagnosis Unit. The overall diagnostic success rate was 98%, achieving 100% in the last period of the study. Chromosomal anomalies were detected in 16% (29/182) of the fetuses. In malformed fetuses this rate increased from 8-9% in isolated malformation or markers of aneuploidy to 50% in multiple malformations. In pregnancies in which a previous cytogenetic study in amniotic fluid was inconclusive, fetal blood made it possible to obtain a definitive result, with no discrepancies found at phenotypic follow-up examination. Interestingly enough, one of the four previously defined as pseudomosaicisms was found to be a non-mosaic in fetal blood, and only 1 of 4 mosaicisms was confirmed in fetal blood. In conclusion, cytogenetic analysis of fetal blood samples appears to be effective, rapid and reliable to establish the fetal karyotype in selected cases.
为了评估胎儿血液进行细胞遗传学诊断的有效性和可靠性，我们报告了在我们的产前诊断科室进行的首例186例妊娠19至37周时用于快速核型分析的胎儿血液采样病例。总体诊断成功率为98%，在研究的最后阶段达到了100%。在16%（29/182）的胎儿中检测到染色体异常。在畸形胎儿中，这一比例从孤立畸形或非整倍体标志物中的8 - 9%增加到多发畸形中的50%。在之前羊水细胞遗传学研究结果不明确的妊娠中，胎儿血液使得能够获得明确结果，在表型随访检查中未发现差异。有趣的是，之前定义为假嵌合体的4例中有1例在胎儿血液中被发现为非嵌合体，并且在胎儿血液中仅证实了4例嵌合体中的1例。总之，胎儿血液样本的细胞遗传学分析在特定病例中似乎对于确定胎儿核型是有效、快速且可靠的。
