Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; School of Chinese Medicine, College of Chinese Medicine, China Medical University, Taichung, Taiwan; Institute of Clinical and Community Health Nursing, National Yang Ming Chiao Tung University, Taipei, Taiwan; Department of Obstetrics and Gynecology, School of Medicine, National Yang Ming Chiao Tung University, Taipei, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2022 Jan;61(1):135-137. doi: 10.1016/j.tjog.2021.11.022.
We present the application of quantitative fluorescent polymerase chain reaction (QF-PCR) for the rapid confirmation of trisomy 13 of maternal origin in a pregnancy with fetal holoprosencephaly (HPE), cyclopia, polydactyly, omphalocele and cell culture failure.
A 21-year-old, gravida 2, para 0, woman was referred for termination of the pregnancy at 17 weeks of gestation because of the abnormal ultrasound finding of alobar HPE. The pregnancy was subsequently terminated, and a 118-g malformed male fetus was delivered with cyclopia, bilateral postaxial polydactyly of the hands and ruptured omphalocele. Postmortem cell culture of the placental tissue and umbilical cord was not successful. The parental karyotypes were normal. QF-PCR analysis using the polymorphic DNA markers of D13S1810, D13S790 and D13S251 on the DNA extracted from placenta, umbilical cord and parental bloods showed trisomy 13 of maternal origin.
Perinatal diagnosis of concomitant HPE, polydactyly and omphalocele should raise a suspicion of fetal trisomy 13. QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin especially under the circumstance of cell culture failure, and the information acquired is very useful for genetic counseling of the parents.
我们介绍了定量荧光聚合酶链反应（QF-PCR）在胎儿无脑畸形（HPE）、独眼畸形、多指畸形、脐膨出和细胞培养失败的母体来源三体 13 快速确认中的应用。
一名 21 岁，孕 2 产 0 的女性，因超声发现无脑叶 HPE 异常而被转诊终止妊娠。随后终止妊娠，娩出 118g 畸形男性胎儿，伴独眼畸形、双手双侧后轴多指畸形和脐膨出破裂。胎盘组织和脐带的死后细胞培养均不成功。父母的核型正常。使用来自胎盘、脐带和父母血液的 DNA 上的多态性 DNA 标记 D13S1810、D13S790 和 D13S251 对 QF-PCR 分析显示母体来源的三体 13。
围产期诊断同时伴有 HPE、多指畸形和脐膨出应怀疑胎儿三体 13。QF-PCR 分析对于快速确认三体 13 及其父母来源非常有用，特别是在细胞培养失败的情况下，所获得的信息对于父母的遗传咨询非常有用。
