[1]燕凤,燕飞,姚念玲,等.孕妇外周血无创DNA检测技术在产前诊断中的应用[J].现代检验医学杂志,2019,34(01):17-21.[doi:10.3969/j.issn.1671-7414.2019.01.005]
YAN Feng,YAN Fei,YAO Nian-ling,et al.Application of Non-Invasive DNA Detection Technique
in Maternal Peripheral Blood for Prenatal Diagnosis[J].Journal of Modern Laboratory Medicine,2019,34(01):17-21.[doi:10.3969/j.issn.1671-7414.2019.01.005]
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孕妇外周血无创DNA检测技术在产前诊断中的应用(
)
《现代检验医学杂志》[ISSN:/CN:]
- 卷:
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第34卷
- 期数:
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2019年01期
- 页码:
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17-21
- 栏目:
-
论著
- 出版日期:
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2019-02-28
文章信息/Info
- Title:
-
Application of Non-Invasive DNA Detection Technique
in Maternal Peripheral Blood for Prenatal Diagnosis
- 文章编号:
-
1671-7
414(2019)01-017-05
- 作者:
-
燕凤1; 燕飞2; 姚念玲1; 陈必良1; 徐慧1;
郑娇1; 任菊霞1; 程璐1; 李春艳1; 张建芳1
-
(1.空军军医大学第一附属医院妇产科，西安710032；2.石家庄学院，
石家庄050035)
- Author(s):
-
YAN Feng1; YAN Fei2; YAO Nian-ling1; CHEN Bi-li
ang1; XU Hui1; ZHENG Jiao1;
REN Ju-xia1; CHENG Lu1; LI Chun-yan1; ZHANG Jian-fang1
-
(1.Department of Obstetrics and Gynecology，the First Affiliated
Hospital of Air Force
Medical University，Xi’an 710032，China；2.Shijiazhuang College，Shij
iazhuang 050035，China)
-
- 关键词:
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无创DNA检测技术; 染色体非整倍体异常; 准确率
- 分类号:
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R714.5；R394-33
- DOI:
-
10.3969/j.issn.1671-7414.2019.01.005
- 文献标志码:
-
A
- 摘要:
-
目的通过评估493例孕妇外周血无创DNA阳性结果的准确性
，探讨该技术在产前诊断中的诊断效率与可行性。方法对2015年11
月～2018年6月在西京医院做羊水穿刺的病人资料回顾性分析，发现因无创阳性做羊水穿刺
的孕妇493例，无创产前DNA检测(NIPT)常见5对染色体阳性结果使用核型和FISH进行分析验
证，NIPT检测其他染色体阳性结果采用核型和基因芯片进行分析验证，并对NIPT阳性结果进
行电话随访确定出生后健康状况。结果NIPT检出孕妇外周血493例
阳性病例，其中21三体，13三体，18三体，性染色体和其他染色体阳性例数分别为：232例
，32例，46例，125例，58例。通过介入性产前诊断分别确定他们的真阳性分别为21三体178
例，13三体3例，18三体23例，性染色体46例和其他染色体7例。阳性预测值分别为：76.7%
，9.4%，50.0%，36.8%和12.1%。五组阳性预测值差异无统计学意义( P ＞0.05)。结论无创DNA技术对21三体检测有较高的敏感度和特异度，但是对13三
体的检测准确度较低，因此，NIPT阳性结果仍需进一步做介入性产前诊断来确诊。
- Abstract:
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Objective To discuss the clinical application v
alu
e of NIPT in prenatal diagnosis and through the assess the accuracy of 493 case
of pregnant women with abnormal NIPT results．Methods The
abnormal NIPT results and amniocentesis in Xijing Hospital from November 2015 t
o June 2018 were retrospectively analyzed．The only indication for amniocentesis
in 493 case of pregnant women was NIPT result showed autosomal abnormalities．N
IPT result showed 21，13，18 and sex chromosome abnormality were required fo
r validating by fetal karyotyping and FISH for verification and analysis．NIPT s
howed other chromosomal abnormalities (excluding chromosome 21，18，13 and sex c
hromosome abnormality) were validated by karyotype and SNP-array analysis and a
ll autosomal abnormalities analysis．NIPT results showed high-risk were followe
d
-up by phone after fetus birth for the chromosome result．Results
493 cases o pregnant women with abnormal NIPT results including tris
omy 21 in 178 cases，trisomy 13 in 3 cases，trisomy 18 in 23 case，sex chromosom
e
aneuploidies in 46 cases and other chromosomal abnormalities in 7 cases．The pos
i
tive predict NIPT for trisomy 21，trisomy 13，trisomy 18，sex chromosome aneuploi
dies and other chromosomal abnormalities were 76.7%，9.4%，50.0%，36.8% and 12%
，respectively．Five groups positive predict had no difference ( P ＞0.05)．
Conclusion The coincidence rate of NIPT was highin detecting
t
risomy 21 syndrome but was low in detecting trisomy 13 syndrome，however，false
p
ositive results mean that amniotic fluid examinations will be still needed．
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备注/Memo
- 备注/Memo:
-
作者简介：燕凤(1979-)，女，硕士，技师，从事遗传性疾病的产前诊断及研
究工作，Tel：029-84771236，E-mail：yanfeng3721@163.com。
通讯作者：张建芳，女，副教授，E-mail：zhzhhao@163.com。
陈必良，男，教授，主任医师，E-mail：cblx
jh@fmmu.edu.cn。
更新日期/Last Update:
2019-02-28