Detection of chromosome abnormalities using current noninvasive prenatal testing: A multi-center comparative study

被引:10
|
作者
Du, Yan [1 ,2 ,3 ]
Lin, Jing [1 ,3 ,4 ]
Lan, Likun [5 ]
Dong, Ying [6 ]
Zhu, Jun [7 ]
Jiang, Wen [8 ]
Pan, Xinyao [1 ,3 ,4 ]
Lu, Youhui [1 ,3 ,4 ]
Li, Dajin [1 ,3 ,4 ]
Wang, Ling [1 ,3 ,4 ]
机构
[1] Fudan Univ, Shanghai Med Coll, Hosp & Inst Obstet & Gynecol, Lab Reprod Immunol, Shanghai, Peoples R China
[2] Fudan Univ, Obstet & Gynecol Hosp, Off Clin Epidemiol, Shanghai, Peoples R China
[3] Fudan Univ, Acad Integrat Med, Shanghai, Peoples R China
[4] Shanghai Key Lab Female Reprod Endocrine Related, Shanghai, Peoples R China
[5] Hexi Univ, Affiliated Hosp 2, Zhangye, Gansu, Peoples R China
[6] Putuo Dist Inst Matern & Child Hlth Shanghai, Shanghai, Peoples R China
[7] Wenzhou Med Univ, Wenling Peoples Hosp, Dept Obstet & Gynecol, Wenzhou, Zhejiang, Peoples R China
[8] Zhoushan Matern & Child Healthcare Hosp, Dept Obstet & Gynecol, Shangyu, Zhejiang, Peoples R China
基金
中国国家自然科学基金;
关键词
Noninvasive prenatal testing (NIPT); prenatal testing; chromosome aneuploidies; subchromosome deletions/duplications; DOWN-SYNDROME; NIPT; ANEUPLOIDIES; PREGNANCIES; STATEMENT; DIAGNOSIS; IMPACT; DNA;
D O I
10.5582/bst.2018.01044
中图分类号
Q [生物科学];
学科分类号
07 ; 0710 ; 09 ;
摘要
Noninvasive prenatal testing (NIPT) is increasingly recognized and utilized in the antenatal care field. In the current study, we aimed to evaluate the clinical application and compare test outcomes of two generations of currently used NIPT techniques for detecting fetal chromosome abnormalities in a high-risk prenatal population. A total of 7,252 pregnant women were included from twenty-one hospitals from January 2015 to September 2017. A maternal blood sample of each participant was collected for fetal DNA sequencing. Group I received a first generation NIPT sequencing technique to detect chromosome aneuploidies, and Group II received a second generation NIPT sequencing technique to detect subchromosome abnormalities. An abnormal NIPT result was reported in 0.90% (44/4,868) of the women in Group I and 2.68% (64/2,384) in Group II. In Group I, seventeen (17/37,45.95%) women with suspected fetal aneuploidy received amniocentesis, which confirmed 100% (10/10) of positive trisomy 21 samples, 100% (1/1) of trisomy 18, 100% (1/1) of sex chromosome abnormality, 0% (0/2) of trisomy 16, 0% (0/2) of trisomy 13, and 0% (0/1) of trisomy 20 and 13. In Group H, aneuploidy accounted for 46.88% (30/64) of the abnormal results. Five underwent amniocentesis and three had an abnormal result, including two cases of trisomy 21 and one case of chromosome 5p deletion syndrome. Whereas one case of 46,XN,del(16q11.2-q22.3) and another case of 46,XN,dup(Xp22.31) were considered as normal. NIPT is a quick and reliable screening method for detecting fetal chromosome aneuploidies and subchromosome deletions/duplications. Challenges remain for the comprehensive clinical application of NIPT.
引用
收藏
页码:317 / 324
页数:8
相关论文
共 50 条
  • [41] Study on the Clinical Value of Noninvasive Prenatal Testing in Screening the Chromosomal Abnormalities of the Fetus in the Elderly Pregnant Women
    Gu, Zhiping
    Du, Mengmeng
    Xu, Tianhui
    Jin, Chunyan
    Computational and Mathematical Methods in Medicine, 2022, 2022
  • [42] DETECTION OF SUSPECTED CHILD ABUSE AT EMERGENCY DEPARTMENTS, A MULTI-CENTER STUDY
    Louwers, E.
    Korfage, I.
    Affourtit, M.
    Moll, H.
    De Koning, H.
    PEDIATRIC RESEARCH, 2010, 68 : 375 - 375
  • [43] Noninvasive Prenatal Testing Using Fetal Fraction Enrichment-A Pilot Study
    Chen, Yun
    Lai, Yunli
    Yi, Jian
    Yi, Shang
    Huang, Xiaoshan
    Tang, Yanqing
    Su, Jiasun
    Shen, Yiping
    Wei, Hongwei
    CLINICAL AND EXPERIMENTAL OBSTETRICS & GYNECOLOGY, 2024, 51 (05):
  • [44] Multi-Center Study on Myelodysplastic Syndromes with Isolated Partial or Total Loss of Chromosome 7
    Crisa, Elena
    Such, Esperanza
    Best, Steven
    Kulasekararaj, Austin
    Cervera, Jose
    Adema, Vera
    Lea, Nicholas
    Ferrero, Dario
    Allione, Bernardino
    Schanz, Julie
    Haase, Detlef
    Sanz, Guillermo F.
    Sole, Francesco
    Mufti, Ghulam J.
    BLOOD, 2014, 124 (21)
  • [45] Prospective Multi-Center Study of Reliability in Vascular Laboratory Testing of Venous Reflux
    Lurie, F.
    JOURNAL OF VASCULAR SURGERY, 2011, 53 (01) : 253 - 254
  • [46] Universal genetic testing in breast cancer patients: A multi-center prospective study
    Ernst, Brenda
    Ertz-Archambault, Natalie
    Rhodes, Deborah J.
    Northfelt, Donald W.
    Wick, Myra
    Riegert-Johnson, Douglas L.
    Okuno, Scott
    Kunze, Katie
    Golafshar, Michael
    Azevedo, Cindy M.
    Uson, P. L. S. Junior
    Esplin, E. D.
    Nussbaum, Robert
    Klint, Margaret
    Mantia, Sarah
    Hager, Megan
    Stewart, Keith
    Samadder, Niloy Jewel
    CANCER RESEARCH, 2021, 81 (04)
  • [47] A Comparative Study of Effect of Three Radical Therapies on Hepatocellular Carcinoma in Multi-Center
    Zhu, Xiao-Feng
    He, Xiao-Shun
    Chen, Min-Shan
    Yuan, Yun-Fei
    Cui, Shu-Zhong
    LIVER TRANSPLANTATION, 2010, 16 (06) : S144 - S144
  • [48] TREATMENT OF LOWER RESPIRATORY AND URINARY INFECTIONS - RESULTS OF A COMPARATIVE MULTI-CENTER STUDY
    LENG, B
    MORERE, P
    OURY, M
    CURRENT THERAPEUTIC RESEARCH-CLINICAL AND EXPERIMENTAL, 1981, 30 (06): : 1111 - 1115
  • [49] Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study
    Kim, Hyunjin
    Park, Ji Eun
    Kang, Kyung Min
    Jang, Hee Yeon
    Go, Minyeon
    Yang, So Hyun
    Kim, Jong Chul
    Lim, Seo Young
    Cha, Dong Hyun
    Choi, Jungah
    Shim, Sung Han
    BMC PREGNANCY AND CHILDBIRTH, 2024, 24 (01)
  • [50] Clinical evaluation of noninvasive prenatal testing for sex chromosome aneuploidies in 9,176 Korean pregnant women: a single-center retrospective study
    Hyunjin Kim
    Ji Eun Park
    Kyung Min Kang
    Hee Yeon Jang
    Minyeon Go
    So Hyun Yang
    Jong Chul Kim
    Seo Young Lim
    Dong Hyun Cha
    Jungah Choi
    Sung Han Shim
    BMC Pregnancy and Childbirth, 24