Skip to main content
SpringerLink
Log in

Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience

  • Genetics
  • Published:
Journal of Assisted Reproduction and Genetics Aims and scope Submit manuscript

Abstract

Purpose

In this study, we aimed to compare the changes in the number, yield, and the percentage of karyotyping indications of the invasive prenatal diagnostic tests between the periods before and after cell-free fetal DNA was introduced to clinical use.

Method

The number of invasive prenatal diagnostic procedures such as amniocentesis and chorionic villus sampling, indication percentages and karyotype results in the periods before (January 1, 2009–December 31, 2010), (n = 1412) and after (January 1, 2016–December 31, 2017), and (n = 593) the introduction of cell-free fetal DNA was retrospectively evaluated.

Results

When compared with the period before cell-free fetal DNA came into clinical use, the number of invasive prenatal diagnostic tests decreased by 58% while their yield was found to have increased (4.4% vs. 10.3%) in the period after cell-free DNA began to be used (p < 0.001). While there was a decrease in the indications due to advanced maternal age, an increase was found in ultrasonography indications for structural anomaly and the risk of a single-gene disorder (p < 0.001). Amniocentesis rate was found to have decreased in invasive prenatal diagnostic procedure types, while an increase was reported in CVS rates (p < 0.001).

Conclusions

Invasive prenatal diagnosis gradually decreases over the years, but the yield of invasive prenatal diagnostic tests increases. In parallel with the rapid development of modern molecular technologies and cheaper and easier access to the tests, we think that the number of invasive prenatal diagnostic tests will experience a more dramatic decrease in the following years.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Fuchs F, Rus P. Antenatal sex determination. Nature. 1956;177:330.

    Article  CAS  Google Scholar 

  2. Steele MW, Breg WR Jr. Chromosome analysis of human amniotic-fluid cells. Lancet. 1966;1(7434):383–5.

    Article  CAS  Google Scholar 

  3. Tabor A, Philip J, Madsen M, Bang J, Obel EB, Norgaard-Pedersen B. Randomised controlled trial of genetic amniocentesis in 4606 low-risk women. Lancet. 1986;1:1287.

    Article  CAS  Google Scholar 

  4. American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Obstetrics, Committee on Genetics, Society for Maternal–Fetal Medicine. Practice Bulletin No. 162: Prenatal diagnostic testing for genetic disorders. Obstet Gynecol. 2016;127:e108.

    Article  Google Scholar 

  5. Seeds JW. Diagnostic mid trimester amniocentesis: how safe? Am J Obstet Gynecol. 2004;191:607–15.

    Article  Google Scholar 

  6. Akin H, Karaca E, Hortu I, Bolat H, Cengisiz Z, Kazandi M, et al. Cytogenetic analysis of miscarriage materials of couples with recurrent pregnancy loss in a tertiary center. Clin Exp Obstet Gynecol. 2019;46(3):423–6.

    Google Scholar 

  7. Xue Y, Zhao, Li H, Zhang Q, Lu J, Yu B, et al. Non-invasive prenatal testing to detect chromosome aneuploidies in 57,204 pregnancies. Mol Cytogenet. 2019;12:29.

    Article  Google Scholar 

  8. Lim JH, Lee BY, Kim JW, Han YJ, Chung JH, Kim MH, et al. Evaluation of extraction methods for methylated cell-free fetal DNA from maternal plasma. J Assist Reprod Genet. 2018;35(4):637–41.

    Article  Google Scholar 

  9. Benn P, Cuckle H, Pergament E. Non-invasive prenatal testing for aneuploidy: current status and future prospects. Ultrasound Obstet Gynecol. 2013;42(1):15–33.

    Article  CAS  Google Scholar 

  10. Palomaki GE, Deciu C, Kloza EM, Lambert-Messerlian GM, Haddow JE, Neveux LM, et al. DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as down syndrome: an international collaborative study. Genet Med. 2012;14(3):296–305.

    Article  CAS  Google Scholar 

  11. Gregg AR, Skotko BG, Benkendorf JL, Monaghan KG, Bajaj K, Best RG, 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):1056–65.

    Article  CAS  Google Scholar 

  12. Committee Opinion No. 640: Cell-free DNA screening for fetal aneuploidy. Obstet Gynecol. 2015;126(3):e31–7.

  13. Warsof SL, Larion S, Abuhamad AZ. Overview of the impact of noninvasive prenatal testing on diagnostic procedures. Prenat Diagn. 2015;35(10):972–9.

    Article  Google Scholar 

  14. Robson SJ, Hui L. National decline in invasive prenatal diagnostic procedures in association with uptake of combined first trimester and cell-free DNA aneuploidy screening. Aust N Z J Obstet Gynaecol. 2015;55(5):507–10.

    Article  Google Scholar 

  15. Chetty S, Garabedian MJ, Norton ME. Uptake of noninvasive prenatal testing (NIPT) in women following positive aneuploidy screening. Prenat Diagn. 2013;33(6):542–6.

    Article  Google Scholar 

  16. Williams J 3rd, Rad S, Beauchamp S, Ratousi D, Subramaniam V, Farivar S, et al. Utilization of noninvasive prenatal testing: impact on referrals for diagnostic testing. Am J Obstet Gynecol. 2015;213(1):102.e1–6.

    Article  Google Scholar 

  17. Hui L, Hutchinson B, Poulton A, Halliday J. Population-based impact of noninvasive prenatal screening on screening and diagnostic testing for fetal aneuploidy. Genet Med. 2017;19(12):1338–45.

    Article  Google Scholar 

  18. Larion S, Warsof SL, Romary L, Mlynarczyk M, Peleg D, Abulhamad AZ. Association of combined first-trimester screen and noninvasive prenatal testing on diagnostic procedures. Obstet Gynecol. 2014;123(6):1303–10.

    Article  Google Scholar 

  19. Garite TJ, Combs CA, Maurel K, Abril D. Das a; obstetrics collaborative research network. The impact of cfDNA screening on the frequency of invasive procedures in a geographically diverse private network. Am J Perinatol. 2017;34(14):1430–5.

    Article  Google Scholar 

  20. Gill LA, Prosen TL. Indications for invasive prenatal testing before and after noninvasive prenatal screening. Am J Perinatol. 2017;34(11):1084–7.

    Article  Google Scholar 

  21. Koc A, Ozer KO, Ozyilmaz B, Kutbay YB, Kirbiyik O, Ozdemir TR, 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.

    Article  Google Scholar 

  22. Hui L, Muggli EE, Halliday JL. Population-based trends in prenatal screening and diagnosis for aneuploidy: a retrospective analysis of 38 years of state-wide data. BJOG. 2016;123(1):90–7.

    Article  CAS  Google Scholar 

  23. Awomolo A, Palomares K, Garcia GH, Rosen T, Duzyj C, Ashkinadze E. Trends in invasive prenatal diagnostic testing at a single institution. Prenat Diagn. 2018;38(10):735–9.

    Article  CAS  Google Scholar 

  24. Petersen OB, Vogel I, Ekelund C, Hyett J, Tabor A, Danish Fetal Medicine Study Group; Danish Clinical Genetics Study Group. Potential diagnostic consequences of applying non-invasive prenatal testing: population-based study from a country with existing first-trimester screening. Ultrasound Obstet Gynecol. 2014;43(3):265–71.

    Article  CAS  Google Scholar 

  25. Li DZ, Zhen L, Pan M, Han J, Yang X, Ou YM. Non-invasive prenatal testing: impact on invasive prenatal diagnosis at a mainland Chinese tertiary medical center. J Matern Fetal Neonatal Med. 2016;29(21):3539–41.

    PubMed  Google Scholar 

  26. Stevens BK, Noblin SJ, Chen HY, Czerwinski J, Friel LA, Wagner C. Introduction of cell- free DNA screening is associated with changes in prenatal genetic counselling indications. J Genet Couns. 2019;28(3):692–9.

    Article  Google Scholar 

  27. Royal College of Obstetricians and Gynaecologists (RCOG). Amniocentesis and chorionic villus sampling. Green-top Guideline No. 8. London: Royal College of Obstetricians and Gynaecologists (RCOG); 2010.

Download references

Author information

Authors and Affiliations

  1. Department of Obstetrics and Gynecology, School of Medicine, Ege University, Izmir, Turkey

    Firat Okmen, Huseyin Ekici, Ismet Hortu & Sermet Sagol

  2. Department of Stem Cell, Institute of Health Sciences, Ege University, Izmir, Turkey

    Ismet Hortu

  3. Department of Obstetrics and Gynecology, School of Medicine, Yale University, New Haven, CT, USA

    Metehan Imamoglu

  4. Department of Genetics, School of Medicine, Ege University, Izmir, Turkey

    Duygu Arican & Haluk Akın

Authors
  1. Firat Okmen
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Huseyin Ekici
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Ismet Hortu
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Metehan Imamoglu
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Duygu Arican
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Haluk Akın
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Sermet Sagol
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Ismet Hortu.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note

Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Okmen, F., Ekici, H., Hortu, I. et al. Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience. J Assist Reprod Genet 37, 2019–2024 (2020). https://doi.org/10.1007/s10815-020-01825-3

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s10815-020-01825-3

Keywords

Search

Navigation