PMID- 12509716
OWN - NLM
STAT- MEDLINE
DCOM- 20030507
LR  - 20191106
IS  - 1098-3600 (Print)
IS  - 1098-3600 (Linking)
VI  - 4
IP  - 6
DP  - 2002 Nov-Dec
TI  - Prenatal diagnosis from fetal urine in bladder outlet obstruction: success rates 
      for traditional cytogenetic evaluation and interphase fluorescence in situ 
      hybridization.
PG  - 444-7
AB  - PURPOSE: To determine the optimal approach to the prenatal chromosome analysis of 
      fetal urine from fetuses with bladder outlet obstruction. METHODS: Retrospective 
      evaluation of traditional cytogenetic and interphase fluorescence in situ 
      hybridization (FISH) analysis on fetal urine specimens from fetuses with bladder 
      outlet obstruction. RESULTS: Traditional cytogenetic analysis was successful on 
      71 (95%) of 75 samples, and FISH was informative on 20 (65%) of 31 specimens. The 
      combination of traditional cytogenetic analysis and FISH yielded a 96% diagnostic 
      success rate. The mean turnaround time was 8 days (range 5-14) for traditional 
      cytogenetic analysis and 1.6 days (range 1.0-4.0) for FISH. Chromosome 
      abnormalities were detected in 6 (7.9%) of 76 pregnancies. CONCLUSION: 
      Traditional cytogenetic analysis achieves a high success rate (95%) and is 
      superior to FISH for chromosome evaluation of fetal urine. However, FISH, when 
      informative, can complement traditional cytogenetics as it will expeditiously 
      rule out common trisomies in fetuses with bladder outlet obstruction.
FAU - Donnenfeld, Alan E
AU  - Donnenfeld AE
AD  - Genzyme Genetics, Philadelphia, Pennsylvania, USA.
FAU - Lockwood, David
AU  - Lockwood D
FAU - Custer, Trace
AU  - Custer T
FAU - Lamb, Allen N
AU  - Lamb AN
LA  - eng
PT  - Journal Article
PL  - United States
TA  - Genet Med
JT  - Genetics in medicine : official journal of the American College of Medical 
      Genetics
JID - 9815831
SB  - IM
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping/*methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Urinary Bladder Neck Obstruction/congenital/diagnosis
MH  - Urine/*cytology
EDAT- 2003/01/02 04:00
MHDA- 2003/05/08 05:00
CRDT- 2003/01/02 04:00
PHST- 2003/01/02 04:00 [pubmed]
PHST- 2003/05/08 05:00 [medline]
PHST- 2003/01/02 04:00 [entrez]
AID - 10.1097/00125817-200211000-00008 [doi]
PST - ppublish
SO  - Genet Med. 2002 Nov-Dec;4(6):444-7. doi: 10.1097/00125817-200211000-00008.