Lu Yan-ping, Cheng Jing, Han Bing, Wang Long-xia, Dai Pu, Yuan Hui-jun, Li Ya-li
Department of Obstetrics and Gynecology, Chinese People's Liberation Army General Hospital, Beijing 100853, China.
Zhonghua Fu Chan Ke Za Zhi. 2011 Jun;46(6):427-30.
To establish the genetic test technique of trisomy 21 concurrently conducts with prenatal diagnosis for hereditary hearing loss.
Fifty-four pregnant women who underwent prenatal diagnosis for hearing loss of their fetuses in Chinese People's Liberation Army General Hospital from March 2009 to May 2010 were enrolled in this study. All probands from the deaf families have confirmed the causative mutation for hearing loss in Genetic Testing Center in Chinese People's Liberation Army General Hospital. The mean age of 54 pregnant women is 31 years at pregnancy of 18 - 26 weeks, 5 cases > pregnancy of 23 weeks, 9 cases ≥ 35 years. All subjects did not conduct the serologic tests for trisomy 21 before. Fifteen to twenty ml amniotic fluid was drawn from 49 cases at pregnancy of 18 - 23 weeks and 5 cases > pregnancy of 23 weeks. One to two ml umbilical blood was drawn from 5 cases > pregnancy of 23 weeks. For 9 cases ≥ 35 years, amniotic fluid cell culture and karyotyping analysis were conducted concurrently. A multiple quantitative fluorescent (QF) PCR and six microsatellite markers were applied to diagnosis trisomy 21. The samples with peaks of 1:1:1 or 2:1 at two microsatellite markers can be diagnosed as trisomy 21.
(1) Fifty-four fetuses were successfully conducted prenatal genetic diagnosis for hearing loss (included GJB2 and SLC26A4). Ten fetuses copied the exactly same genotypes as the probands. The other 44 cases fetuses did not copy the same genotypes as the probands and won't develop hearing loss. The hearing test showed normal hearing for the neonates. (2) All the 54 fetuses were excluded of trisomy 21 by QF-PCR and were verified after birth. Five fetuses with advanced maternal age were performed karyotyping analysis and showed normal. The diagnostic results of QF-PCR can be obtained in 1-3 days without misdiagnosed.
QF-PCR is an efficient, rapid and accurate technique for detection of trisomy 21 without increasing sample amount. It can be used for fetuses who were undertaken hearing loss gene test or other prenatal gene test.
建立21三体综合征基因检测技术，并同时对遗传性听力损失进行产前诊断。
选取2009年3月至2010年5月在中国人民解放军总医院接受胎儿听力损失产前诊断的54例孕妇。所有来自聋人家庭的先证者均在中国人民解放军总医院基因检测中心确诊了听力损失的致病突变。54例孕妇的平均年龄为31岁，妊娠18 - 26周，5例妊娠>23周，9例≥35岁。所有受试者之前均未进行过21三体血清学检测。对49例妊娠18 - 23周的孕妇和5例妊娠>23周的孕妇抽取15 - 20ml羊水。对5例妊娠>23周的孕妇抽取1 - 2ml脐血。对9例≥35岁的孕妇同时进行羊水细胞培养和核型分析。应用多重定量荧光（QF）PCR和6个微卫星标记诊断21三体综合征。在两个微卫星标记处出现1:1:1或2:1峰的样本可诊断为21三体综合征。
（1）对54例胎儿成功进行了听力损失（包括GJB2和SLC26A4）的产前基因诊断。10例胎儿复制了与先证者完全相同的基因型。其他44例胎儿未复制与先证者相同的基因型，不会发生听力损失。听力测试显示新生儿听力正常。（2）所有54例胎儿均通过QF-PCR排除了21三体综合征，并在出生后得到验证。对5例高龄孕妇进行了核型分析，结果正常。QF-PCR的诊断结果可在1 - 3天内获得，无误诊。
QF-PCR是一种高效、快速、准确的检测21三体综合征的技术，无需增加样本量。可用于接受听力损失基因检测或其他产前基因检测的胎儿。
