Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan; Department of Medical Research, MacKay Memorial Hospital, Taipei, Taiwan; Department of Biotechnology, Asia University, Taichung, 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. 2021 Sep;60(5):903-904. doi: 10.1016/j.tjog.2021.07.020.
We present rapid diagnosis of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) in a pregnancy with multiple fetal abnormalities.
A 35-year-old, primigravid woman was referred for amniocentesis at 24 weeks of gestation because of multiple congenital anomalies in the fetus. Prenatal ultrasound at 23 weeks of gestation revealed holoprosencephaly, premaxillary agenesis, postaxial polydactyly of the left hand and overriding aorta. Amniocentesis was performed subsequently, and QF-PCR analysis using the polymorphic DNA markers of D13S789 (13q22.3), D13S790 (13q31.1) and D13S767 (13q31.3) on the DNA extracted from uncultured amniocytes and parental bloods showed trisomy 13 of maternal origin. Conventional cytogenetic analysis on the cultured amniocytes confirmed trisomy 13. The pregnancy was subsequently terminated, and a malformed fetus was delivered with multiple anomalies consistent with the prenatal diagnosis.
QF-PCR analysis is useful for rapid confirmation of trisomy 13 and the parental origin when prenatal ultrasound findings are suspicious of fetal trisomy 13.
我们通过定量荧光聚合酶链反应（QF-PCR）在一例伴有多种胎儿异常的妊娠中快速诊断母源性三体 13。
一名 35 岁、初产妇因胎儿多发先天性异常而在 24 周时被转诊行羊膜穿刺术。23 周时的产前超声显示全前脑、上颌骨发育不全、左手后轴多趾和主动脉骑跨。随后进行了羊膜穿刺术，使用多态性 DNA 标记物 D13S789（13q22.3）、D13S790（13q31.1）和 D13S767（13q31.3）对未培养的羊膜细胞和父母血液中的 DNA 进行 QF-PCR 分析，结果显示母源性三体 13。对培养的羊膜细胞进行常规细胞遗传学分析证实了三体 13。随后终止妊娠，分娩出一个畸形胎儿，其多种异常与产前诊断相符。
当产前超声检查结果提示胎儿三体 13 时，QF-PCR 分析可快速确认三体 13 并确定其亲本来源，这是非常有用的。
