Porreco R P, Harshbarger B, McGavran L
Presbyterian/St. Luke's Medical Center, Children's Hospital, Denver, Colorado.
Obstet Gynecol. 1993 Aug;82(2):242-6.
To obtain a timely fetal karyotype in selected circumstances by investigating the usefulness of fetal blood samples.
Forty-five patients had fetal blood sampling for a variety of abnormalities including hydrocephalus, oligohydramnios, fetal growth retardation, nonimmune hydrops, duodenal atresia, polyhydramnios, and multiple anomalies. Four cytogenetic techniques were attempted in determining fetal karyotype: a direct harvest of lymphocytes in the fetal blood sample, a 24-hour incubation of fetal lymphocytes without mitogen, and a 48- and 72-hour mitogen-stimulated incubation followed by harvest and analysis.
Ten of these 45 cases showed diagnostic cytogenetic abnormalities. Twenty-nine cases had results reported within 30 hours of obtaining the specimen following analysis of unstimulated cultures. One-half of the abnormal results were reported within 30 hours of receiving the specimen.
Unstimulated lymphocyte cultures from fetal blood samples may provide rapid cytogenetic diagnosis and alter obstetric management in selected circumstances.
通过研究胎儿血样的效用，在特定情况下及时获得胎儿核型。
45例患者因多种异常情况进行了胎儿血样采集，这些异常包括脑积水、羊水过少、胎儿生长受限、非免疫性水肿、十二指肠闭锁、羊水过多和多发畸形。尝试了四种细胞遗传学技术来确定胎儿核型：直接采集胎儿血样中的淋巴细胞、在无有丝分裂原的情况下对胎儿淋巴细胞进行24小时培养，以及在有丝分裂原刺激下分别进行48小时和72小时培养，随后进行采集和分析。
这45例中有10例显示出诊断性细胞遗传学异常。29例在对未刺激培养物进行分析后，在获得标本的30小时内报告了结果。一半的异常结果在收到标本的30小时内报告。
胎儿血样中未刺激的淋巴细胞培养可能在特定情况下提供快速的细胞遗传学诊断并改变产科处理。
