Advanced search
Publication Cover
The Journal of Maternal-Fetal & Neonatal Medicine Volume 34, 2021 - Issue 4
Submit an article Journal homepage
154
Views
3
CrossRef citations to date
0
Altmetric
Original Articles

Can cell-free DNA testing be used in pregnancies with isolated fetal omphalocele? Preliminary evidence from cytogenetic results of prenatal cases

Li-Li XuPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center affiliated to Guangzhou Medical University, Guangzhou, China; View further author information
,
Li ZhenPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center affiliated to Guangzhou Medical University, Guangzhou, China; View further author information
,
Ji-Wu LouPrenatal Diagnosis Center, Boai Hospital of Zhongshan, Zhongshan, China; View further author information
,
Hai-Shen TangPrenatal Diagnosis Center, Dongguan Maternal and Children Healthcare Hospital, Dongguan, ChinaView further author information
,
Min PanPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center affiliated to Guangzhou Medical University, Guangzhou, China; View further author information
,
Jin HanPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center affiliated to Guangzhou Medical University, Guangzhou, China; View further author information
,
Xin YangPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center affiliated to Guangzhou Medical University, Guangzhou, China; View further author information
&
Dong-Zhi LiPrenatal Diagnostic Center, Guangzhou Women and Children’s Medical Center affiliated to Guangzhou Medical University, Guangzhou, China; Correspondence[email protected]
View further author information
 show all
Pages 624-628 | Received 12 Oct 2018, Accepted 22 Apr 2019, Published online: 06 May 2019

References

  • St-Vil D, Shaw KS, Lallier M, et al. Chromosomal anomalies in newborns with omphalocele. J Pediatr Surg. 1996;31(6):831–834.
  • Nyberg DA, Fitzsimmons J, Mack LA, et al. Chromosomal abnormalities in fetuses with omphalocele. Significance of omphalocele contents. J Ultrasound Med. 1989;8(6):299–308.
  • Snijders RJ, Brizot ML, Faria M, et al. Fetal exomphalos at 11 to 14 weeks of gestation. J Ultrasound Med. 1995;14(8):569–574.
  • Akolekar R, Betta J, Picciarelli G, et al. Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2015;45(1):16–26.
  • Iwarsson E, Jacobsson B, Dagerhamn J, et al. Analysis of cell-free fetal DNA in maternal blood for detection of trisomy 21, 18 and 13 in a general pregnant population and in a high risk population - a systematic review and meta-analysis. Acta Obstet Gynecol Scand. 2017;96(1):7–18.
  • Nshimyumukiza L, Menon S, Hina H, et al. Cell-free DNA noninvasive prenatal screening for aneuploidy versus conventional screening: a systematic review of economic evaluations. Clin Genet. 2018;94(1):3–21.
  • De Veciana M, Major CA, Porto M. Prediction of an abnormal karyotype in fetuses with omphalocele. Prenat Diagn. 1994;14(6):487–492.
  • Tassin M, Descriaud C, Elie C, et al. Omphalocele in the first trimester: prediction of perinatal outcome. Prenat Diagn. 2013;33(5):497–501.
  • Gil MM, Accurti V, Santacruz B, et al. Analysis of cell-free DNA in maternal blood in screening for aneuploidies: updated meta-analysis. Ultrasound Obstet Gynecol. 2017;50(3):302–314.
  • Van Opstal D, de Vries F, Govaerts L, et al. Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies. Hum Mutat. 2015;36(3):319–326.
  • D’Amours G, Kibar Z, Mathonnet G, et al. Whole-genome array CGH identifies pathogenic copy number variations in fetuses with major malformations and a normal karyotype. Clin Genet. 2012;81(2):128–141.
  • Chen CP. Chromosomal abnormalities associated with omphalocele. Taiwan J Obstet Gynecol. 2007;46(1):1–8.
  • Wapner RJ, Martin CL, Levy B, et al. Chromosomal microarray versus karyotyping for prenatal diagnosis. N Engl J Med. 2012;367(23):2175–2184.
  • Shaffer LG, Rosenfeld JA, Dabell MP, et al. Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound. Prenat Diagn. 2012;32(10):986–995.
  • Hillman SC, McMullan DJ, Hall G, et al. Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis. Ultrasound Obstet Gynecol. 2013;41(6):610–620.
  • Hartwig TS, Ambye L, Sørensen S, et al. Discordant non-invasive prenatal testing (NIPT) – a systematic review. Prenat Diagn. 2017;37(6):527–539.
  • Van Opstal D, Srebniak MI, Polak J, et al. False negative NIPT results: risk figures for chromosomes 13, 18 and 21 based on chorionic villi results in 5967 cases and literature review. PLoS One. 2016;11(1):e0146794.
  • Yaron Y. The implications of non-invasive prenatal testing failures: a review of an under-discussed phenomenon. Prenat Diagn. 2016;36(5):391–396.
  • 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.
  • Lefkowitz RB, Tynan JA, Liu T, et al. Clinical validation of a noninvasive prenatal test for genome wide detection of fetal copy number variants. Am J Obstet Gynecol. 2016;215(2):227.e1–227.e16.
  • Yu SC, Jiang P, Choy KW, et al. Noninvasive prenatal molecular karyotyping from maternal plasma. PLoS One. 2013;8(4):e60968.

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.