PDF(Sci-hub)
Abstract：
OBJECTIVE: We present rapid diagnosis of trisomy 18 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) analysis following tissue culture failure for conventional cytogenetic analysis in a fetus with holoprosencephaly (HPE), ventricular septal defect (VSD), arthrogryposis of bilateral wrists and aplasia of the thumbs.
METHODS: A 22-year-old, primigravid woman was referred for first-trimester ultrasound screening at 13 weeks of gestation, and the fetus was found to have HPE and VSD. The pregnancy was subsequently terminated at 14 weeks of gestation, and a malformed fetus was delivered with cebocephaly, arthrogryposis of bilateral wrists and aplasia of the thumbs. The umbilical cord and placental tissues were collected for genetic analysis. However, tissue culture failure for conventional cytogenetic analysis occurred because of contamination. QF-PCR analysis using the polymorphic DNA markers of D18S1369 (18q12.2) and D18S1361 (18q22.3) confirmed trisomy 18 of maternal origin.
CONCLUSIONS: QF-PCR analysis is useful for rapid confirmation of trisomy 18 and the parental origin when tissue culture failure for conventional cytogenetic analysis occurs in pregnancy suspicious of fetal trisomy 18.
METHODS: A 22-year-old, primigravid woman was referred for first-trimester ultrasound screening at 13 weeks of gestation, and the fetus was found to have HPE and VSD. The pregnancy was subsequently terminated at 14 weeks of gestation, and a malformed fetus was delivered with cebocephaly, arthrogryposis of bilateral wrists and aplasia of the thumbs. The umbilical cord and placental tissues were collected for genetic analysis. However, tissue culture failure for conventional cytogenetic analysis occurred because of contamination. QF-PCR analysis using the polymorphic DNA markers of D18S1369 (18q12.2) and D18S1361 (18q22.3) confirmed trisomy 18 of maternal origin.
CONCLUSIONS: QF-PCR analysis is useful for rapid confirmation of trisomy 18 and the parental origin when tissue culture failure for conventional cytogenetic analysis occurs in pregnancy suspicious of fetal trisomy 18.
摘要：
目的：我们提出了通过定量荧光聚合酶链反应（QF-PCR）分析快速诊断母系来源的18三体，在全脑前脑畸形（HPE）胎儿的常规细胞遗传学分析中组织培养失败后，室间隔缺损(VSD),双侧手腕关节发育不全和拇指发育不全。
方法：22岁，primigravid妇女在妊娠13周时被转诊为妊娠早期超声筛查，胎儿被发现患有HPE和VSD。随后在妊娠14周终止妊娠，畸形的胎儿因头颅畸形而分娩，双侧手腕关节发育不全和拇指发育不全。收集脐带和胎盘组织用于遗传分析。然而,常规细胞遗传学分析的组织培养失败是由于污染。使用D18S1369(18q12.2)和D18S1361(18q22.3)的多态性DNA标记的QF-PCR分析证实了母体来源的18三体。
结论：当常规细胞遗传学分析的组织培养失败发生在可疑胎儿18三体的妊娠时，QF-PCR分析可用于快速确认18三体和亲本起源。
方法：22岁，primigravid妇女在妊娠13周时被转诊为妊娠早期超声筛查，胎儿被发现患有HPE和VSD。随后在妊娠14周终止妊娠，畸形的胎儿因头颅畸形而分娩，双侧手腕关节发育不全和拇指发育不全。收集脐带和胎盘组织用于遗传分析。然而,常规细胞遗传学分析的组织培养失败是由于污染。使用D18S1369(18q12.2)和D18S1361(18q22.3)的多态性DNA标记的QF-PCR分析证实了母体来源的18三体。
结论：当常规细胞遗传学分析的组织培养失败发生在可疑胎儿18三体的妊娠时，QF-PCR分析可用于快速确认18三体和亲本起源。
