PMID- 12868085
OWN - NLM
STAT- MEDLINE
DCOM- 20031204
LR  - 20041117
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 23
IP  - 7
DP  - 2003 Jul
TI  - Residual risk for cytogenetic abnormalities after prenatal diagnosis by 
      interphase fluorescence in situ hybridization (FISH).
PG  - 566-71
AB  - Results from conventional cytogenetic studies on 21 609 amniotic fluid specimens 
      were analyzed retrospectively to determine the residual risk for a cytogenetic 
      abnormality if interphase FISH, capable of only detecting aneuploidy for 
      chromosomes 13, 18, 21, X and Y, was performed and did not reveal an abnormality. 
      Detection rates (the probability of detecting a cytogenetic abnormality when an 
      abnormality is present) and residual risks (the likelihood of a cytogenetic 
      abnormality, in view of normal interphase FISH results) were calculated for the 
      four major clinical indications for prenatal diagnosis (advanced maternal age, 
      abnormal maternal serum screen indicating increased risk for trisomy 18 or 
      trisomy 21, abnormal maternal serum screen indicating increased risk for neural 
      tube defects and ultrasound abnormality). Differences in detection rates were 
      observed to depend on clinical indication and presence or absence of ultrasound 
      abnormalities. The detection rate ranged from 18.2 to 82.6% depending on the 
      clinical indication. The detection rates of abnormalities significant to the 
      pregnancy being evaluated (i.e. abnormalities excluding familial balanced 
      rearrangements and familial markers) were between 28.6 and 86.4%. The presence of 
      ultrasound abnormalities increased the detection rate from 72.2 to 92.5% for 
      advanced maternal age and from 78.6 to 91.3% for abnormal maternal serum screen, 
      indicating increased risk for trisomy 18 or trisomy 21. With regard to residual 
      risk, the risk for a clinically significant abnormality decreased from 0.9-10.1%, 
      prior to the interphase FISH assay, to a residual risk of 0.6-1.5% following a 
      normal interphase FISH result in the 4 groups studied. Providing patients with 
      detection rates and residual risks, most relevant to their situation (clinical 
      indication and presence or absence of ultrasound abnormality) during counseling, 
      could help them better understand the advantages and limitations of interphase 
      FISH in their prenatal diagnostic evaluation.
CI  - Copyright 2003 John Wiley & Sons, Ltd.
FAU - Homer, Jeanne
AU  - Homer J
AD  - Genzyme Genetics, 1054 Town and Country Road, Orange, CA 92868, USA.
FAU - Bhatt, Sucheta
AU  - Bhatt S
FAU - Huang, Bing
AU  - Huang B
FAU - Thangavelu, Maya
AU  - Thangavelu M
LA  - eng
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Amniotic Fluid/cytology
MH  - California/epidemiology
MH  - Female
MH  - Genetic Counseling
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Medical Records
MH  - *Ploidies
MH  - Predictive Value of Tests
MH  - Pregnancy
MH  - *Prenatal Diagnosis
MH  - Retrospective Studies
MH  - Risk Factors
MH  - Sensitivity and Specificity
EDAT- 2003/07/18 05:00
MHDA- 2003/12/05 05:00
CRDT- 2003/07/18 05:00
PHST- 2003/07/18 05:00 [pubmed]
PHST- 2003/12/05 05:00 [medline]
PHST- 2003/07/18 05:00 [entrez]
AID - 10.1002/pd.642 [doi]
PST - ppublish
SO  - Prenat Diagn. 2003 Jul;23(7):566-71. doi: 10.1002/pd.642.