Johnson A, Wapner R J, Davis G H, Jackson L G
Department of Medicine, Jefferson Medical College, Philadelphia, Pennsylvania.
Obstet Gynecol. 1990 Apr;75(4):573-7.
Prenatal diagnosis by first-trimester chorionic villus sampling was successful in 4319 pregnancies involving 4395 fetuses. Cytogenetic information was obtained by both rapid cytotrophoblastic preparation and monolayer mesenchymal tissue culture. Chromosomal mosaicism was present in 55 of 4319 (1.3%). The abnormal cell line involved the cytotrophoblast in 79.6% of the mosaic specimens. None of the abnormalities found in the cytotrophoblast were confirmed in the fetus when the tissue culture was normal, supporting the belief that the cells of the mesenchymal core more truly reflect the chromosomal constitution of the fetus. However, a significant increase in the perinatal loss rate in the placental mosaic group was noted when compared with the nonmosaics: 16.7 versus 2.7% (P = .0001). These findings suggest that placental mosaicism may be a cause of perinatal loss.
孕早期绒毛取样的产前诊断在4319例涉及4395例胎儿的妊娠中取得成功。通过快速细胞滋养层制备和单层间充质组织培养获得细胞遗传学信息。4319例中有55例（1.3%）存在染色体嵌合体。在79.6%的嵌合标本中，异常细胞系涉及细胞滋养层。当组织培养正常时，在细胞滋养层中发现的异常在胎儿中均未得到证实，这支持了间充质核心细胞更真实地反映胎儿染色体构成的观点。然而，与非嵌合体组相比，胎盘嵌合体组围产期丢失率显著增加：分别为16.7%和2.7%（P = 0.0001）。这些发现表明胎盘嵌合体可能是围产期丢失的一个原因。
