Seidl E, Coerdt W, Zuther C, Klink F, Schwinger E
Institut für Humangenetik, Medizinischen Universität zu Lübeck.
Z Geburtshilfe Perinatol. 1988 Nov-Dec;192(6):253-8.
Among 311 diagnostic chromosomal analyses after CVS eleven results (mostly chromosomal mosaicism) did not fit completely with the chromosomal sets found in the fetuses and newborns. In all cases chromosomal mosaicism was restricted to the placenta only. All children born after the diagnosis of a chromosomal mosaicism in the placenta were normal. In six cases the investigation of the placenta after termination of pregnancy or birth was possible. In all those cases the mosaicism could be found within the placenta, however, in some cases in a very low percentage. Although occurrence of chromosomal mosaicism in the placenta can hinder chromosomal diagnosis after CVS, the advantages of the method are not neutralized.
在绒毛取样术后进行的311次诊断性染色体分析中,有11个结果(大多为染色体嵌合体)与胎儿及新生儿的染色体组不完全相符。所有病例中,染色体嵌合体仅局限于胎盘。在胎盘诊断出染色体嵌合体后出生的所有儿童均正常。6例在终止妊娠或分娩后对胎盘进行了检查。在所有这些病例中,均可在胎盘中发现嵌合体,不过在某些情况下比例非常低。尽管胎盘中出现染色体嵌合体可能会妨碍绒毛取样术后的染色体诊断,但该方法的优势并未被抵消。