PMID- 12475544
OWN - NLM
STAT- MEDLINE
DCOM- 20030115
LR  - 20191106
IS  - 1521-6934 (Print)
IS  - 1521-6934 (Linking)
VI  - 16
IP  - 5
DP  - 2002 Oct
TI  - Prenatal diagnosis: molecular genetics and cytogenetics.
PG  - 629-43
AB  - The technologies developed for the Human Genome Project, the recent surge of 
      available DNA sequences resulting from it and the increasing pace of gene 
      discoveries and characterization have all contributed to new technical platforms 
      that have enhanced the spectrum of disorders that can be diagnosed prenatally. 
      The importance of determining the disease-causing mutation or the informativeness 
      of linked genetic markers before embarking upon a DNA-based prenatal diagnosis 
      is, however, still emphasized. Different fluorescence in situ hybridization 
      (FISH) technologies provide increased resolution for the elucidation of 
      structural chromosome abnormalities that cannot be resolved by more conventional 
      cytogenetic analyses, including microdeletion syndromes, cryptic or subtle 
      duplications and translocations, complex rearrangements involving many 
      chromosomes, and marker chromosomes. Interphase FISH and the quantitative 
      fluorescence polymerase chain reaction are efficient tools for the rapid prenatal 
      diagnosis of selected aneuploidies, the latter being considered to be most 
      cost-effective if analyses are performed on a large scale. There is some debate 
      surrounding whether this approach should be employed as an adjunct to karyotyping 
      or whether it should be used as a stand-alone test in selected groups of women.
FAU - Bui, The-Hung
AU  - Bui TH
AD  - Department of Molecular Medicine, Clinical Genetics Unit, Karolinska Institute, 
      Karolinska Hospital, Stockholm, Sweden.
FAU - Blennow, Elisabeth
AU  - Blennow E
FAU - Nordenskjold, Magnus
AU  - Nordenskjold M
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Review
PL  - Netherlands
TA  - Best Pract Res Clin Obstet Gynaecol
JT  - Best practice & research. Clinical obstetrics & gynaecology
JID - 101121582
SB  - IM
MH  - Chromosome Disorders/*diagnosis
MH  - Cytogenetic Analysis/methods
MH  - DNA Mutational Analysis/methods
MH  - Female
MH  - Fetal Diseases/*diagnosis
MH  - Genetic Testing/*methods
MH  - Humans
MH  - Polymerase Chain Reaction/methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
RF  - 61
EDAT- 2002/12/12 04:00
MHDA- 2003/01/16 04:00
CRDT- 2002/12/12 04:00
PHST- 2002/12/12 04:00 [pubmed]
PHST- 2003/01/16 04:00 [medline]
PHST- 2002/12/12 04:00 [entrez]
AID - S1521693402903275 [pii]
AID - 10.1053/beog.2002.0327 [doi]
PST - ppublish
SO  - Best Pract Res Clin Obstet Gynaecol. 2002 Oct;16(5):629-43. doi: 
      10.1053/beog.2002.0327.