Chen Chih-Ping, Wu Fang-Tzu, Wong Chian-Huey, Chen Shin-Wen, Chern Schu-Rern, Pan Yen-Ting, Chen Wen-Lin, Wang Wayseen
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 Medical Laboratory Science and Biotechnology, College of Medical and Health Science, Asia University, Taichung, Taiwan.
Department of Obstetrics and Gynecology, MacKay Memorial Hospital, Taipei, Taiwan.
Taiwan J Obstet Gynecol. 2023 May;62(3):444-447. doi: 10.1016/j.tjog.2023.03.006.
We present prenatal diagnosis and molecular genetic analysis of recurrent trisomy 18 of maternal origin in two consecutive pregnancies.
A 37-year-old, gravida 3, para 1, woman was referred for genetic counseling because of cystic hygroma on ultrasound at 12 weeks of gestation, a previous pregnancy with a fetus with trisomy 18, and an abnormal first-trimester non-invasive prenatal testing (NIPT) result of Z score of 9.74 (normal: -3.0-3.0) in chromosome 18 suggesting trisomy 18 during this pregnancy. The fetus died at 14 weeks of gestation, and a malformed fetus was terminated at 15 weeks of gestation. Cytogenetic analysis of the placenta revealed a karyotype of 47,XY,+18. Quantitative fluorescent polymerase chain reaction (QF-PCR) assays on the DNA extracted from parental bloods and umbilical cord determined a maternal origin of trisomy 18. One year previously, the woman underwent amniocentesis at 17 weeks of gestation because of advanced maternal age of 36 years. Amniocentesis revealed a karyotype of 47,XX,+18. Prenatal ultrasound was unremarkable. The mother had a karyotype of 46,XX, and the father had a karyotype of 46,XY. QF-PCR assays on the DNA extracted from parental bloods and cultured amniocytes determined a maternal origin of trisomy 18. The pregnancy was subsequently terminated.
NIPT is useful for rapid prenatal diagnosis of recurrent trisomy 18 under such a circumstance.
我们报告连续两次妊娠中母源性18三体综合征的产前诊断及分子遗传学分析。
一名37岁、孕3产1的女性因妊娠12周超声检查发现颈部水囊瘤、既往有一胎为18三体胎儿以及孕早期无创产前检测（NIPT）结果异常（18号染色体Z值为9.74，正常范围：-3.0至3.0）提示此次妊娠可能为18三体而前来接受遗传咨询。该胎儿于妊娠14周死亡，另一畸形胎儿于妊娠15周终止妊娠。胎盘的细胞遗传学分析显示核型为47,XY,+18。对从父母血液和脐带提取的DNA进行定量荧光聚合酶链反应（QF-PCR）检测确定18三体源自母亲。一年前，该女性因母亲年龄36岁高龄在妊娠17周时接受了羊膜腔穿刺术。羊膜腔穿刺术显示核型为47,XX,+18。产前超声检查未见异常。母亲核型为46,XX，父亲核型为46,XY。对从父母血液和培养的羊水细胞提取的DNA进行QF-PCR检测确定18三体源自母亲。随后该妊娠终止。
在这种情况下，无创产前检测（NIPT）有助于快速产前诊断复发性18三体综合征。
