PMID- 12576747
OWN - NLM
STAT- MEDLINE
DCOM- 20030902
LR  - 20191210
IS  - 1015-3837 (Print)
IS  - 1015-3837 (Linking)
VI  - 18
IP  - 2
DP  - 2003 Mar-Apr
TI  - Validation of primed in situ labeling for interphase analysis of chromosomes 18, 
      X, and Y in uncultured amniocytes.
PG  - 114-21
AB  - OBJECTIVE: Primed in situ labeling (PRINS) is an interesting alternative to the 
      traditional fluorescence in situ hybridization (FISH) for the in situ detection 
      of specific sequences in chromosome anomalies. It combines the sensitivity and 
      specificity of the polymerase chain reaction with the specific in situ signal 
      detection capability of FISH. METHODS: We performed PRINS on uncultured 
      amniocytes and compared the results with standard cytogenetic analysis. In a 
      prospective study, a total of 262 independent samples were analyzed for numerical 
      aberrations of chromosome 18. RESULTS: In more than 95% of the cases PRINS 
      reactions were successfully achieved. Neither false-positive nor false-negative 
      results were obtained. 62 of the 262 cases were in parallel examined for 
      chromosome 18 aneuploidies by FISH. Although there were significant differences 
      in signal distribution, these did not lead to a different overall classification 
      of the respective cases, i.e., the end results of disomic and trisomic cases for 
      chromosome 18 were identical between FISH and PRINS. In 205 of 262 cases PRINS 
      was performed for chromosomes X and Y. 97.6% of these samples were properly sex 
      differentiated. CONCLUSIONS: The PRINS assay is a simple and cheap alternative to 
      detect numerical aberrations of chromosome 18. However, the rate of 
      false-positive results for chromosome X was calculated as 1% and the rate of 
      false-negative ones for chromosome Y as 2%. Further investigations are required 
      to transform PRINS into an alternative to conventional methods for routine rapid 
      prenatal diagnosis of gonosomes.
CI  - Copyright 2003 S. Karger AG, Basel
FAU - Mennicke, Kirsten
AU  - Mennicke K
AD  - Department of Human Genetics, University of Lubeck, Germany. 
      mennicke@medinf.mu-luebeck.de
FAU - Yang, Jianbin
AU  - Yang J
FAU - Hinrichs, Frauke
AU  - Hinrichs F
FAU - Muller, Andreas
AU  - Muller A
FAU - Diercks, Petra
AU  - Diercks P
FAU - Schwinger, Eberhard
AU  - Schwinger E
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PT  - Validation Study
PL  - Switzerland
TA  - Fetal Diagn Ther
JT  - Fetal diagnosis and therapy
JID - 9107463
SB  - IM
MH  - Amnion/*cytology/physiology
MH  - Chromosomes, Human, Pair 18/*genetics
MH  - Chromosomes, Human, X/*genetics
MH  - Chromosomes, Human, Y/*genetics
MH  - Female
MH  - Humans
MH  - Interphase/*genetics
MH  - Male
MH  - Pilot Projects
MH  - Pregnancy
MH  - Primed In Situ Labeling/*methods
EDAT- 2003/02/11 04:00
MHDA- 2003/09/03 05:00
CRDT- 2003/02/11 04:00
PHST- 2002/03/06 00:00 [received]
PHST- 2003/02/11 04:00 [pubmed]
PHST- 2003/09/03 05:00 [medline]
PHST- 2003/02/11 04:00 [entrez]
AID - 68072 [pii]
AID - 10.1159/000068072 [doi]
PST - ppublish
SO  - Fetal Diagn Ther. 2003 Mar-Apr;18(2):114-21. doi: 10.1159/000068072.