Skip to main content
Log in

Rapid diagnosis with FISH for chromosomal abnormality of fetal pyelectasia

  • Published:
Wuhan University Journal of Natural Sciences

Abstract

Fluorescence in situ Hybridization (FISH) was used to investigate whether the chromosome of the fetus prenatally diagnosed as pyelectasis was normal or not. Amniotic fluid was taken from the pregnant woman whose fetus was detected with pyelectasia by prenatal examination. The chromosome of the amniotic fluid cell without culture was examined with FISH. The result shows that compared with the traditional amniotic fluid cell culture, FISH has the advantages of more rapid, higher sensitivity and specificity, and was 10–12 days earlier to complete the diagnosing than the traditional method. The fetuses detected chromosomal abnormality in each groups were induced during the middle and late trimester, while those fetuses with normal chromosome continued pregnancy, the rate of spontaneous disappearance of pyelectasia decreased as the severity of pyelectasia increased. FISH can satisfy the urgent need in the clinical prenatal diagnosis due to its rapidity to determine whether fetus with pyelectasia was accompanied with chromosomal.

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

Access this article

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. Oliveira E A, Cabral A C, Pereira A K, et al. Outcome of Fetal Urinary Tract a Nomalies Associated with Multiple Malformations and Chromosomal Abnormalities[J]. Prenat Diagn, 2001, 21:129–134.

    Article  Google Scholar 

  2. Vergani P, Locatelli A, Piccoli M G, et al. Best Second Trimester Sonographic Markers for the Detection of Trisomy 21[J]. J Ultrasound Med, 1999, 18:469–473.

    Google Scholar 

  3. Wickstrom E A, Thangavelu M, Parilla B V, et al. A Prospective Study of the Association Between Isolated Fetal Pyelectasis and Chromosomal Abnormality[J]. Obstet Gynecol, 1996, 88:379–382.

    Article  Google Scholar 

  4. Coco C, Jeanty P. Isolated Fetal Pyelectasis and Chromosomal Abnormalities[J]. Am J Obstet Gynecol. 2005, 193:732–738.

    Article  Google Scholar 

  5. Cremer T, Landegent J, Bruckner A, et al. Detection of Chromosome Aberrations in the Human Interphase Nucleus by Visualization of Specific Target DNAs with Radio Active and Non-Radio Activein in situ Hybridization Techniques: Diagnosis of Trisomy18 with Probe L1.84[J]. Hum Genet, 1986, 74:346–352.

    Article  Google Scholar 

  6. Stumm M, Wegner R D, Bloechle M, et al. Interphase M-FISH Applications Using Commercial Probes in Prenatal and PGD Diagnostics[J]. Cytogenet Genome Res. 2006; 114(3–4): 296–301.

    Article  Google Scholar 

  7. Klinger K, Landes G, Shook D, et al. Rapid Detection of Chromosome Aneuploidies in Uncultured Amniocytes by Using Fluorescence in Situ Hybridization(FISH)[J]. Am J Hum Genet, 1992, 51:55–65.

    Google Scholar 

  8. Zhang Xiaozheng, Yu Jiying, Huo Xiaochun, et al. Study and Clinical Application of Fluorescence in Situ Hybridization[J]. Chin J Birth Health Heredity, 2004, 12:34–35 (Ch).

    Google Scholar 

  9. Lev D, Daniely M, Zudika, et al. Automatic Scanning of Interphase FISH for Prenatal Diagnosis in Uncultured Amniocytes[J]. Genet Test, 2005, 9(1):41–47.

    Article  Google Scholar 

  10. Liehr T, Ziegler M. Rapid Prenatal Diagnostics in the Interphase Nucleus: Procedure and Cut-off Rates[J]. J Histochem Cytochem, 2005, 53(3):289–291.

    Article  Google Scholar 

  11. Wyandt H E, Tonk V S, Huang X L, et al. Correlation of Abnormal Rapid FISH and Chromosome Results from Amniocytes for Prenatal Diagnosis. Fetal Diagn Ther, 2006, 21(2):235–240.

    Article  Google Scholar 

  12. 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 Hybridization(FISH)[J]. Prenat Diagn, 2002, 22:29–33.

    Article  Google Scholar 

  13. Leung W C, Lao T T. Rapid Aneuploidy Testing, Traditional Karyotyping, or Both[J]. Lancet, 2005, 366(9480):97–98.

    Article  Google Scholar 

  14. Feldman B, Ebrahim S A, Hazan S L, et al. Routine Prenatal Diagnosis of Aneuploidy by FISH Studies in High-Risk Pregnancies[J]. Am J Med Genet, 2000, 90:233–238.

    Article  Google Scholar 

  15. Ward B E, Gersen S L, Carelli M P, et al. Rapid Prenatal Diagnosis of Chromosomal Aneuploidies by Fluorescence in situ Hybridization: Clinical Experience with 4500 Specimens[J]. Am J Hum Genet, 1993, 52:854–865.

    Google Scholar 

  16. Xiao Hongmei, Tan Yunqing, Li Liyan, et al. Prenatal Diagnosis of Common Chromosomal Aneuploidies on Uncultured Amniotic Fluid Cells by Fluorescence in situ Hybridization[J]. Chinese Journal of Medical Genetics. 2004, 21(6):608–610 (Ch).

    Google Scholar 

  17. Caine A, Maltby A E, Parkin C A, et al. UK Association of Clinica Cytogeneticist(ACC) Prenatal Detection of Down’s Syndrome by Rapid Aneuploidy Testing for Chromosomes 13, 18, and 21 by FISH or PCR without a Full Karyotype: a Cytogenetic Risk Assessment[J]. Lancet, 2005, 366(9480): 123–128.

    Article  Google Scholar 

  18. Thein A T, Abdel-Fattah S A, Kyle P M, et al. An Assessment of the Use of Interphase FISH with Chromosome Specific Probes as an Alternative to Cytogenetics in Prenatal Diagnosis[J]. Prenat Diagn, 2000, 20:275–280.

    Article  Google Scholar 

  19. Bryndorf T, Lundsteen C, Lamb A, et al. Rapid Prenatal Diagnosis of Chromosome an Euploidiesby Interphase Fluorescence in Situ Hybridization: a One-Year Clinical Experience with High-Risk and Urgent Fetal and Postnatal Samples[J]. Acta Obstet Gynecol Scand, 2000, 79(1):8–14.

    Article  Google Scholar 

Download references

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Fenghua Huang.

Additional information

Foundation item: Supported by the Key Program of Science and Technology of Wuhan(200760423158)

Biography: HUANG Fenghua(1966–), femal, Physician-in-chare, Ph.D. candidate, research direction: the foundation and clinic research of birth-defect.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Huang, F., Zheng, X., Zhang, Y. et al. Rapid diagnosis with FISH for chromosomal abnormality of fetal pyelectasia. Wuhan Univ. J. Nat. Sci. 13, 252–256 (2008). https://doi.org/10.1007/s11859-008-0223-0

Download citation

  • Received:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s11859-008-0223-0

Key words

CLC number

Navigation