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.
Similar content being viewed by others
References
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.
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.
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.
Coco C, Jeanty P. Isolated Fetal Pyelectasis and Chromosomal Abnormalities[J]. Am J Obstet Gynecol. 2005, 193:732–738.
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.
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.
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.
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).
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.
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.
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.
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.
Leung W C, Lao T T. Rapid Aneuploidy Testing, Traditional Karyotyping, or Both[J]. Lancet, 2005, 366(9480):97–98.
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.
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.
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).
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.
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.
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.
Author information
Authors and Affiliations
Corresponding author
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
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
Received:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11859-008-0223-0