Advanced search
Publication Cover
Expert Review of Molecular Diagnostics Volume 22, 2022 - Issue 3
Submit an article Journal homepage
195
Views
0
CrossRef citations to date
0
Altmetric
Original Research

Retrospective analysis of the risk factors associated with failure in obtaining effective noninvasive prenatal test results and pregnancy outcomes: a case-control study

Yanmei Lua Department of Genetic Eugenics, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, ChangshaHunan, ChinaView further author information
,
Siyuan Linpenga Department of Genetic Eugenics, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, ChangshaHunan, ChinaView further author information
,
Siyi Dinga Department of Genetic Eugenics, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, ChangshaHunan, ChinaView further author information
,
Shihong Lia Department of Genetic Eugenics, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, ChangshaHunan, ChinaView further author information
,
Liangcheng Shia Department of Genetic Eugenics, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, ChangshaHunan, ChinaView further author information
,
Xinwei Zuoa Department of Genetic Eugenics, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, ChangshaHunan, ChinaView further author information
,
Jun Hea Department of Genetic Eugenics, Changsha Hospital for Maternal & Child Health Care Affiliated to Hunan Normal University, ChangshaHunan, ChinaCorrespondence[email protected]
View further author information
&
Yalan Liub Department of Otolaryngology Heard and Neck Surgery, Xiangya Hospital, Central South University, ChangshaHunan, ChinaCorrespondence[email protected]
View further author information
 show all
Pages 387-394 | Received 10 Aug 2021, Accepted 25 Feb 2022, Published online: 09 Mar 2022

References

  • Zheng J, Lu H, Li M, et al. The clinical utility of non-invasive prenatal testing for pregnant women with different diagnostic indications. Front Genet. 2020;11:624.
  • Koc A, Ozer Kaya O, Ozyilmaz B, et al. Targeted fetal cell-free DNA screening for aneuploidies in 4,594 pregnancies: single center study. Mol Genet Genomic Med. 2019;7(7):e00678.
  • Driscoll DA, Gross S. Clinical practice. Prenatal screening for aneuploidy. N Engl J Med. 2009;360(24):2556–2562.
  • Liu Y, Liu H, He Y, et al. Clinical performance of non-invasive prenatal served as a first-tier screening test for trisomy 21, 18, 13 and sex chromosome aneuploidy in a pilot city in China. Hum Genomics. 2020;14(1):21.
  • Lo YM, Corbetta N, Chamberlain PF, et al. Presence of fetal DNA in maternal plasma and serum. Lancet. 1997;350(9076):485–487.
  • Luo Y, Hu H, Jiang L, et al. A retrospective analysis the clinic data and follow-up of non-invasive prenatal test in detection of fetal chromosomal aneuploidy in more than 40,000 cases in a single prenatal diagnosis center. Eur J Med Genet. 2020;63(9):104001.
  • Yuan X, Zhou L, Zhang B, et al. Association between low fetal fraction of cell free DNA at the early second-trimester and adverse pregnancy outcomes. Pregnancy Hypertens. 2020;22:101–108.
  • Yu B, Lu BY, Zhang B, et al. Overall evaluation of the clinical value of prenatal screening for fetal-free DNA in maternal blood. Medicine. 2017;96(27):e7114.
  • Geppert J, Stinton C, Johnson S, et al. Antenatal screening for fetal trisomies using microarray-based cell-free DNA testing: a systematic review and meta-analysis. Prenat Diagn. 2020;40(4):454–462.
  • Committee Opinion No. 640: cell-Free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31–e37.
  • Liang D, Lin Y, Qiao F, et al. Perinatal outcomes following cell-free DNA screening in >32 000 women: clinical follow-up data from a single tertiary center. Prenat Diagn. 2018;38(10):755–764.
  • Ma J, Wang Y, Wang W, et al. Validation of combinatorial probe-anchor ligation-based sequencing as non-invasive prenatal test for trisomy at a central laboratory. Ultrasound Obstet Gynecol. 2017;50(1):49–57.
  • Samura O, Okamoto A. Causes of aberrant non-invasive prenatal testing for aneuploidy: a systematic review. Taiwan J Obstet Gynecol. 2020;59(1):16–20.
  • Chan N, Smet ME, Sandow R, et al. Implications of failure to achieve a result from prenatal maternal serum cell-free DNA testing: a historical cohort study. Bjog. 2018;125(7):848–855.
  • Burgess R, Cernat A, Little L, et al. Implementing publicly funded noninvasive prenatal testing for fetal aneuploidy in Ontario, Canada: clinician experiences with a disruptive technology. Qual Health Res. 2020;30(12):1941–1952.
  • Feng CS, Lu BY, Ju HH, et al. The failure of non-invasive prenatal testing due to maternal dermatomyositis. Prenat Diagn. 2019;39(11):958–961.
  • Togneri FS, Kilby MD, Young E, et al. Implementation of cell-free DNA-based non-invasive prenatal testing in a national health service regional genetics laboratory. Genet Res (Camb). 2019;101:e11.
  • Bianchi DW. Circulating fetal DNA: its origin and diagnostic potential-a review. Placenta. 2004;25(Suppl A):S93–S101.
  • Jiang P, Chan CW, Chan KC, et al. Lengthening and shortening of plasma DNA in hepatocellular carcinoma patients. Proc Natl Acad Sci U S A. 2015;112(11):E1317–1325.
  • Dhallan R, Au WC, Mattagajasingh S, et al. Methods to increase the percentage of free fetal DNA recovered from the maternal circulation. JAMA. 2004;291(9):1114–1119.
  • Ashoor G, Syngelaki A, Poon LC, et al. Fetal fraction in maternal plasma cell-free DNA at 11-13 weeks’ gestation: relation to maternal and fetal characteristics. Ultrasound Obstet Gynecol. 2013;41(1):26–32.
  • Gregg AR, Skotko BG, Benkendorf JL, et al. Noninvasive prenatal screening for fetal aneuploidy, 2016 update: a position statement of the American college of medical genetics and genomics. Genet Med. 2016;18(10):1056–1065.
  • Bone K, MacPherson MJ, Chernos J, et al. Failure of NIPT to detect constitutional chromoanasynthesis involving chromosome 21 in a case of fetal hydrops-A case report. Clin Case Rep. 2019;7(11):2165–2168.
  • Amant F, Verheecke M, Wlodarska I, et al. Presymptomatic identification of cancers in pregnant women during noninvasive prenatal testing. JAMA Oncol. 2015;1(6):814–819.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Order Reprints Request Corporate Permissions

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

Request Academic Permissions

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.

Related research

People also read lists articles that other readers of this article have read.

Recommended articles lists articles that we recommend and is powered by our AI driven recommendation engine.

Cited by lists all citing articles based on Crossref citations.
Articles with the Crossref icon will open in a new tab.