PMID- 26663048 OWN - NLM STAT- MEDLINE DCOM- 20160523 LR - 20190221 IS - 1003-9406 (Print) IS - 1003-9406 (Linking) VI - 32 IP - 6 DP - 2015 Dec TI - [Comparison of results of improved FISH and conventional karyotyping analysis of 2607 amniotic fluid samples]. PG - 785-8 LID - 10.3760/cma.j.issn.1003-9406.2015.06.006 [doi] AB - OBJECTIVE: To compare the results of fluorescence in situ hybridization (FISH) assay and conventional karyotyping analysis for the detection of chromosomal aneuploidies. METHODS: In total 2607 amniotic fluid samples were subjected to an improved FISH technique. Meanwhile, karyotype analysis was also ordered for each sample. RESULTS: Of the 2607 samples, 62 abnormalities were identified by FISH, which included 62 cases of trisomy 21, 5 cases of 45,X, 12 cases of trisomy 18, 3 cases of trisomy 13, and 1 case of 47, XYY. Conventional karyotyping analysis has identified 63 cases of trisomy 21, 5 cases of 45,X, 12 cases of trisomy 18, 3 cases of trisomy 13, 1 case of 47, XYY, and 57 cases of balanced translocations. The success rate of FISH detection was 98.4% for trisomy 21, and 100% for 45,X, trisomy 18 and trisomy 13. CONCLUSION: For the detection of chromosomal aneuploidies, FISH assay is quick, simple, accurate and can reduce workload when aminocyte culture has failed. As an auxiliary method for amniocytic analysis, it can provide reference for the consultation of those with advanced age and high pregnancy risk. FAU - Yang, Yan AU - Yang Y AD - Prenatal Diagnosis Center of Jiangxi Women and Children's Hospital, Nanchang, Jiangxi 330006 P.R. China. lyq0914@126.com. FAU - Liu, Yanqiu AU - Liu Y FAU - Huang, Ning AU - Huang N FAU - Xie, Kang AU - Xie K LA - chi PT - Comparative Study PT - Journal Article PL - China TA - Zhonghua Yi Xue Yi Chuan Xue Za Zhi JT - Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics JID - 9425197 SB - IM MH - Adult MH - Amniocentesis/*methods MH - Amniotic Fluid/cytology/*metabolism MH - Chromosomes, Human, Pair 18/genetics MH - Chromosomes, Human, Pair 3/genetics MH - Chromosomes, Human, Y/genetics MH - Down Syndrome/genetics MH - Female MH - Fetal Diseases/diagnosis/genetics MH - Humans MH - In Situ Hybridization, Fluorescence/*methods MH - Karyotype MH - Karyotyping/*methods MH - Middle Aged MH - Pregnancy MH - Reproducibility of Results MH - Sensitivity and Specificity MH - Sex Chromosome Aberrations MH - Trisomy/genetics MH - Trisomy 18 Syndrome MH - Turner Syndrome/genetics MH - Young Adult EDAT- 2015/12/15 06:00 MHDA- 2016/05/24 06:00 CRDT- 2015/12/15 06:00 PHST- 2015/12/15 06:00 [entrez] PHST- 2015/12/15 06:00 [pubmed] PHST- 2016/05/24 06:00 [medline] AID - 940632164 [pii] AID - 10.3760/cma.j.issn.1003-9406.2015.06.006 [doi] PST - ppublish SO - Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2015 Dec;32(6):785-8. doi: 10.3760/cma.j.issn.1003-9406.2015.06.006.