Phillips O P, Velagaleti G V, Tharapel A T, Shulman L P
Department of Obstetrics and Gynecology, University of Tennessee, Memphis, USA.
Prenat Diagn. 1997 Feb;17(2):170-2. doi: 10.1002/(sici)1097-0223(199702)17:2<170::aid-pd28>3.0.co;2-h.
We report a case of discordant non-mosaic karyotypes following chorionic villus sampling (CVS). A 45,XX,der(21;21)(q10;q10) karyotype was found on direct preparation of cytotrophoblasts and 46,XX was found on long-term culture of mesenchymal core cells. Analysis of amniotic fluid cells and fetal tissue revealed a third karyotype: 46,XX,+21,der(21;21)(q10;q10). Had only culture analysis been performed, follow-up studies might not have been undertaken. This case demonstrates the importance of direct CVS preparation in helping to identify fetal abnormalities, and the need for follow-up of discordant CVS results.
我们报告了一例绒毛取样（CVS）后出现不一致的非嵌合核型病例。在对细胞滋养层进行直接制片时发现核型为45,XX,der(21;21)(q10;q10)，而在对间充质核心细胞进行长期培养时发现核型为46,XX。对羊水细胞和胎儿组织的分析揭示了第三种核型：46,XX,+21,der(21;21)(q10;q10)。如果仅进行培养分析，可能就不会进行后续研究。该病例证明了CVS直接制片在帮助识别胎儿异常方面的重要性，以及对不一致的CVS结果进行随访的必要性。
