open access

Vol 88, No 12 (2017)
Research paper
Published online: 2017-12-29
Get Citation

Evaluation of Microfluidics-FISH method in prenatal diagnosis

Aleksandra Pietrzyk12, Małgorzata Ryłów2, Marta Bryśkiewicz2, Ewa Studniak2, Krzysztof Piotrowski1, Stanisław Zajączek12, Jacek Gronwald12
DOI: 10.5603/GP.a2017.0119
·
Pubmed: 29303224
·
Ginekol Pol 2017;88(12):670-673.
Affiliations
  1. Department of Genetics and Pathology, Pomeranian Medical University, Szczecin, Poland
  2. Cytogenetic Unit, Department of Laboratory Diagnostics, Pomeranian Medical University, Powstańców Wielkopolskich 72, 70-111 Szczecin, Poland

open access

Vol 88, No 12 (2017)
ORIGINAL PAPERS Obstetrics
Published online: 2017-12-29

Abstract

Objectives: Classical cytogenetic analysis remains a gold standard in invasive prenatal diagnosis. Recently, Microfluidics¬-FISH, a novel method based on FISH, has been introduced. This integral approach allows to obtain result for common aneuploidies within the same day from a much smaller sample of the amniotic fluid. In this study we compare effectiveness of Microfluidics-FISH to classical karyotype and Rapid FISH. Material and methods: 52 samples of amniotic fluid were drawn from the pregnant women due to common indications. Cell cultures have been set up for classical cytogenetic analysis as well as amniotic cells have been loaded into the microchip of Microfluidics-FISH as well standard procedure of Rapid FISH was performed for evaluation of trisomy 21, 13, 18 chromosome and sex chromosomes numeric aberrations. Results: 9 samples out of 52 showed chromosomal aberrations in both FISH methods what was consistent with karyoty¬ping. One case of small supernumerary marker chromosome was detected only in the classical cytogenetic analysis. For the majority of cases turnaround time was shortest for Microfluidics-FISH and the average volume of sample was smallest. Microfluidics-FISH proved to be reliable and cost-effective rapid testing method of common aneuploidies. Recognizing, ho¬wever, limitations of methods based on FISH it cannot replace conventional karyotyping and be the sole method of diagnosis.

Abstract

Objectives: Classical cytogenetic analysis remains a gold standard in invasive prenatal diagnosis. Recently, Microfluidics¬-FISH, a novel method based on FISH, has been introduced. This integral approach allows to obtain result for common aneuploidies within the same day from a much smaller sample of the amniotic fluid. In this study we compare effectiveness of Microfluidics-FISH to classical karyotype and Rapid FISH. Material and methods: 52 samples of amniotic fluid were drawn from the pregnant women due to common indications. Cell cultures have been set up for classical cytogenetic analysis as well as amniotic cells have been loaded into the microchip of Microfluidics-FISH as well standard procedure of Rapid FISH was performed for evaluation of trisomy 21, 13, 18 chromosome and sex chromosomes numeric aberrations. Results: 9 samples out of 52 showed chromosomal aberrations in both FISH methods what was consistent with karyoty¬ping. One case of small supernumerary marker chromosome was detected only in the classical cytogenetic analysis. For the majority of cases turnaround time was shortest for Microfluidics-FISH and the average volume of sample was smallest. Microfluidics-FISH proved to be reliable and cost-effective rapid testing method of common aneuploidies. Recognizing, ho¬wever, limitations of methods based on FISH it cannot replace conventional karyotyping and be the sole method of diagnosis.
Get Citation

Keywords

Microfluidics-FISH, rapid fish, rapid aneuploidy testing, amniocentesis, prenatal diagnosis

About this article
Title

Evaluation of Microfluidics-FISH method in prenatal diagnosis

Journal

Ginekologia Polska

Issue

Vol 88, No 12 (2017)

Article type

Research paper

Pages

670-673

Published online

2017-12-29

DOI

10.5603/GP.a2017.0119

Pubmed

29303224

Bibliographic record

Ginekol Pol 2017;88(12):670-673.

Keywords

Microfluidics-FISH
rapid fish
rapid aneuploidy testing
amniocentesis
prenatal diagnosis

Authors

Aleksandra Pietrzyk
Małgorzata Ryłów
Marta Bryśkiewicz
Ewa Studniak
Krzysztof Piotrowski
Stanisław Zajączek
Jacek Gronwald

References (10)
  1. Hassold T, Hunt P. To err (meiotically) is human: the genesis of human aneuploidy. Nat Rev Genet. 2001; 2(4): 280–291.
  2. Divane A, Carter NP, Spathas DH, et al. Rapid prenatal diagnosis of aneuploidy from uncultured amniotic fluid cells using five-colour fluorescence in situ hybridization. Prenat Diagn. 1994; 14(11): 1061–1069.
  3. Philip J, Bryndorf T, Christensen B. Prenatal aneuploidy detection in interphase cells by fluorescence in situ hybridization (FISH). Prenat Diagn. 1994; 14(13): 1203–1215.
  4. Klinger K, Landes G, Shook D, et al. Rapid detection of chromosome aneuploidies in uncultured amniocytes by using fluorescence in situ hybridization (FISH). Am J Hum Genet. 1992; 51(1): 55–65.
  5. Tepperberg J, Pettenati MJ, Rao PN, et al. Prenatal diagnosis using interphase fluorescence in situ hybridization (FISH): 2-year multi-center retrospective study and review of the literature. Prenat Diagn. 2001; 21(4): 293–301.
  6. Witters I, Devriendt K, Legius E, et al. Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn. 2002; 22(1): 29–33.
  7. Ogilvie CM, Lashwood A, Chitty L, et al. The future of prenatal diagnosis: rapid testing or full karyotype? An audit of chromosome abnormalities and pregnancy outcomes for women referred for Down's Syndrome testing. BJOG. 2005; 112(10): 1369–1375.
  8. Ho SSY, Chua C, Gole L, et al. Same-day prenatal diagnosis of common chromosomal aneuploidies using microfluidics-fluorescence in situ hybridization. Prenat Diagn. 2012; 32(4): 321–328.
  9. Graf MD, Christ L, Mascarello JT, et al. Redefining the risks of prenatally ascertained supernumerary marker chromosomes: a collaborative study. J Med Genet. 2006; 43(8): 660–664.
  10. Evans MI, Henry GP, Miller WA, et al. International, collaborative assessment of 146,000 prenatal karyotypes: expected limitations if only chromosome-specific probes and fluorescent in-situ hybridization are used. Hum Reprod. 1999; 14(5): 1213–1216.

Regulations

Important: This website uses cookies. More >>

The cookies allow us to identify your computer and find out details about your last visit. They remembering whether you've visited the site before, so that you remain logged in - or to help us work out how many new website visitors we get each month. Most internet browsers accept cookies automatically, but you can change the settings of your browser to erase cookies or prevent automatic acceptance if you prefer.

By "Via Medica sp. z o.o." sp.k., ul. Świętokrzyska 73, 80–180 Gdańsk
tel.:+48 58 320 94 94, faks:+48 58 320 94 60, e-mail:  viamedica@viamedica.pl