Grether P, Zavaleta M J, de la Luna E, Sánchez-Solis V, Hernández C, Karchmer S
Instituto Nacional de Perinatología, S.S. México, D.F.
Ginecol Obstet Mex. 1991 Nov;59:317-22.
Between march 1988 and march 1991, 350 amniocenteses were performed as a part of the prenatal diagnosis program at the Instituto Nacional de Perinatología. Cytogenetic diagnosis was obtained in 348 cases (99.4%). A total of ten abnormal fetal karyotypes (2.9%) were detected: Down's syndrome, (5) Edwards' syndrome, (2) Turner's syndrome, (1) Klinefelter's syndrome (1) and chromosomal instability. (1) In addition, one carrier of a Robertsonian translocation, two balanced carriers of reciprocal translocations and three cases of true mosaicism, were also detected. In the group of patients studied for indications other than risk of chromosomopathy, one female fetus affected by congenital adrenal hyperplasia, was observed. There were two miscarriages, resulting in a post-procedural fetal loss of 0.57%.
1988年3月至1991年3月期间,作为国立围产医学研究所产前诊断项目的一部分,共进行了350例羊膜腔穿刺术。348例(99.4%)获得了细胞遗传学诊断。共检测到10例异常胎儿核型(2.9%):唐氏综合征(5例)、爱德华兹综合征(2例)、特纳综合征(1例)、克兰费尔特综合征(1例)和染色体不稳定(1例)。此外,还检测到1例罗伯逊易位携带者、2例相互易位平衡携带者和3例真正的嵌合体病例。在因非染色体病风险指征而接受研究的患者组中,观察到1例受先天性肾上腺皮质增生影响的女胎。发生了2例流产,术后胎儿丢失率为0.57%。