PMID- 18306922
OWN - NLM
STAT- MEDLINE
DCOM- 20080314
LR  - 20170303
IS  - 0017-0011 (Print)
IS  - 0017-0011 (Linking)
VI  - 78
IP  - 11
DP  - 2007 Nov
TI  - [Future of prenatal cytogenetic studies: rapid aneuploidy testing or full 
      karyotype].
PG  - 881-7
AB  - The traditional "gold standard" for prenatal diagnosis of chromosome 
      abnormalities involves analysis of banded chromosomes obtained from cultured 
      amniotic fluid or chorionic villus cells. Most studies are performed because of 
      increased risk of aneuploidy of chromosomes 13, 18 and 21. It constitute 65-85% 
      of all chromosome aberrations diagnosed prenataly. At present more rapid (in 1-3 
      days) methods than conventional cytogenetics, enabling the diagnosis of 
      aneuploidy are available. They include FISH (fluorescence in situ hybridization), 
      QF-PCR (quantitative fluorescence polymerase chain reaction) and MLPA (multiplex 
      ligation-dependent probe amplification) techniques. However, it is important to 
      know how many other chromosomal abnormalities would not be detected using these 
      tests for the estimation of their clinical utility. Currently, most laboratories 
      perform rapid tests for aneuploidy together with full karyotype. The criteria of 
      using of rapid aneuploidy tests as a stand-alone test in prenatal diagnosis are 
      currently discussed. Here, the diagnostic capacity and limitations of rapid tests 
      for aneuploidy detection as well as debate on the change of the policy for 
      cytogenetic prenatal diagnosis is presented.
FAU - Bocian, Ewa
AU  - Bocian E
AD  - Zaklad Genetyki Medycznej, Instytut Matki i Dziecka, Warszawa. 
      ebocian@imid.med.pl
LA  - pol
PT  - English Abstract
PT  - Journal Article
PT  - Review
TT  - Przyszlosc prenatalnych badan cyto- genetycznych: szybki test na aneuploidie czy 
      pelny kariotyp.
PL  - Poland
TA  - Ginekol Pol
JT  - Ginekologia polska
JID - 0374641
SB  - IM
MH  - Amniocentesis
MH  - Amniotic Fluid/cytology
MH  - *Aneuploidy
MH  - Chromosomes, Human, Pair 13
MH  - Chromosomes, Human, Pair 18
MH  - Chromosomes, Human, Pair 21
MH  - Cytogenetic Analysis/methods/*trends
MH  - Female
MH  - Forecasting
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/trends
MH  - Pregnancy
MH  - Prenatal Diagnosis/methods/*trends
RF  - 49
EDAT- 2008/03/01 09:00
MHDA- 2008/03/15 09:00
CRDT- 2008/03/01 09:00
PHST- 2008/03/01 09:00 [pubmed]
PHST- 2008/03/15 09:00 [medline]
PHST- 2008/03/01 09:00 [entrez]
PST - ppublish
SO  - Ginekol Pol. 2007 Nov;78(11):881-7.