Berghella V, Wapner R J, Yang-Feng T, Mahoney M J
Department of Obstetrics and Gynecology, Jefferson Medical College, Thomas Jefferson University Hospital, Philadelphia, PA, USA.
Prenat Diagn. 1998 Apr;18(4):384-9.
Trisomy 22 mosaicism diagnosed at 20 weeks' gestation by amniocentesis in a 35-year-old woman was not confirmed by fetal blood sampling. Subsequent fetal skin biopsy revealed trisomy 22 in 7 of the 15 fibroblasts analysed. We conclude that, depending on the chromosome involved, fetal skin biopsy should be considered in the diagnostic work-up when mosaicism is found in amniotic fluid.
一名35岁女性在妊娠20周时通过羊膜穿刺术诊断出22号染色体三体嵌合体，但胎儿血液取样未证实这一结果。随后的胎儿皮肤活检显示，在分析的15个成纤维细胞中有7个存在22号染色体三体。我们得出结论，根据所涉及的染色体不同，当在羊水中发现嵌合体时，在诊断检查中应考虑进行胎儿皮肤活检。
