PMID- 12533818
OWN - NLM
STAT- MEDLINE
DCOM- 20030702
LR  - 20191210
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 23
IP  - 1
DP  - 2003 Jan
TI  - The clinical application of spectral karyotyping (SKY) in the analysis of 
      prenatally diagnosed extra structurally abnormal chromosomes (ESACs).
PG  - 74-9
AB  - OBJECTIVE: The prenatal detection of de novo extra structurally abnormal 
      chromosomes (ESACs) presents a challenge because the associated risk for 
      congenital anomaly ranges from 100% to practically none, depending on the 
      chromosomal origin. Despite the use of standard cytogenetic techniques and even 
      fluorescence in situ hybridization (FISH), the origin of some ESACs often remains 
      elusive. Spectral karyotyping (SKY) is a molecular cytogenetic technique based on 
      the simultaneous analysis of all chromosomes using a unique probe mix that allows 
      the rapid identification of all chromosomes in 24 colors. The purpose of this 
      study was to evaluate the use of SKY in the characterization of prenatally 
      diagnosed de novo ESACs. METHODS: This series includes five cases of de novo 
      ESACs detected prenatally in routine amniocentesis samples performed for advanced 
      maternal age. Cases of inherited ESACs or ESACs defined by standard cytogenetic 
      techniques were excluded. RESULTS: SKY analysis yielded valuable information, 
      particularly in cases of nonsatellited ESACs: a der(18) and a ring(Y). In a case 
      of a unisatellited der(15), SKY corroborated data obtained by standard 
      cytogenetic techniques and FISH. Finally, in two cases of small bisatellited 
      chromosomes, SKY was noncontributory. CONCLUSIONS: While SKY may be a valuable 
      tool in some cases, especially nonsatellited and ring ESACs, it does have 
      limitations and should be used judiciously in conjunction with other cytogenetic 
      techniques.
CI  - Copyright 2003 John Wiley & Sons, Ltd.
FAU - Yaron, Yuval
AU  - Yaron Y
AD  - Prenatal Diagnosis Unit & Genetic Institute, Sourasky Medical Center, Tel Aviv, 
      Israel. yyaron@tasmc.health.gov.il
FAU - Carmon, Erez
AU  - Carmon E
FAU - Goldstein, Myriam
AU  - Goldstein M
FAU - Voskoboinik, Nadia
AU  - Voskoboinik N
FAU - Ochshorn, Yifat
AU  - Ochshorn Y
FAU - Gelman-Kohan, Zully
AU  - Gelman-Kohan Z
FAU - Orr-Urtreger, Avi
AU  - Orr-Urtreger A
LA  - eng
PT  - Case Reports
PT  - Evaluation Study
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
RN  - 0 (Genetic Markers)
SB  - IM
MH  - Adult
MH  - *Amniocentesis
MH  - *Chromosome Aberrations
MH  - Chromosome Disorders/*diagnosis/genetics
MH  - Decision Making
MH  - Decision Support Techniques
MH  - Female
MH  - *Genetic Counseling
MH  - Genetic Markers
MH  - Humans
MH  - Maternal Age
MH  - Middle Aged
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - *Spectral Karyotyping
EDAT- 2003/01/21 04:00
MHDA- 2003/07/03 05:00
CRDT- 2003/01/21 04:00
PHST- 2003/01/21 04:00 [pubmed]
PHST- 2003/07/03 05:00 [medline]
PHST- 2003/01/21 04:00 [entrez]
AID - 10.1002/pd.521 [doi]
PST - ppublish
SO  - Prenat Diagn. 2003 Jan;23(1):74-9. doi: 10.1002/pd.521.