PMID- 10740198
OWN - NLM
STAT- MEDLINE
DCOM- 20000519
LR  - 20190905
IS  - 0197-3851 (Print)
IS  - 0197-3851 (Linking)
VI  - 20
IP  - 4
DP  - 2000 Apr
TI  - An assessment of the use of interphase FISH with chromosome specific probes as an 
      alternative to cytogenetics in prenatal diagnosis.
PG  - 275-80
AB  - We have assessed the effects that would have been observed if we had changed from 
      standard prenatal diagnosis to interphase fluorescence in situ hybridization 
      (FISH) on our amniocentesis samples. We aimed to estimate the number of cases 
      with aberrations other than chromosomes 13, 18, 21, X and Y, which would not have 
      been detectable by FISH and to assess the potential clinical implications for 
      these cases. In 1687 prenatal diagnoses, 111 cases had abnormal cytogenetic 
      reports (6.5% aneuploidy rate). Out of those 111 cases, 14 had chromosomal 
      abnormalities not detectable by FISH but four of these had major structural 
      abnormalities diagnosed on ultrasound, which would have lead to counselling of a 
      very poor prognosis anyway. In 10 cases without abnormal ultrasound findings, if 
      FISH had been used rather than cytogenetics, it appears that there may have had 
      no detrimental effects on the clinical outcomes of the cases studied. Out of 
      those 10 cases, two pregnancies were terminated because of abnormal cytogenetic 
      results (one was due to maternal age and the second one was due to abnormal 
      biochemical screening) (mosaic 46,XY, /47,XY,+mar and 46,X,del(8)(p21) 
      respectively) and their post-mortem results also did not show any abnormalities. 
      One pregnancy was continued in spite of a de novo chromosomal rearrangement and 
      resulted in an apparently normal live birth. Five cases (including a set of 
      twins) with inherited balanced translocations resulted in four normal live births 
      and one unexplained intrauterine death at 32 weeks' gestation and post-mortem was 
      declined. One case with a paternally derived abnormal chromosome 21, decided to 
      continue the pregnancy and resulted in a normal live birth. The last case in this 
      group resulted in a rhesus related intrauterine death in the second trimester, 
      and although an abnormal chromosome 13 insertion (paternally derived known 
      aberration) there was no abnormality found at post-mortem. Therefore, we suggest 
      that it is reasonable to use FISH as an alternative prenatal diagnosis for 
      indications such as advanced maternal age and abnormal maternal serum biochemical 
      screening when high quality ultrasound scanning is performed, but FISH should 
      only be used as an additional test to conventional cytogenetics for the other 
      indications, especially when abnormalities are found on ultrasound scan.
CI  - Copyright 2000 John Wiley & Sons, Ltd.
FAU - Thein, A T
AU  - Thein AT
AD  - Fetal Medicine Research Unit, Academic Department of Obstetrics and Gynaecology, 
      University of Bristol, St. Michael's Hospital, Bristol, UK. 
      angela.thein@bris.ac.uk
FAU - Abdel-Fattah, S A
AU  - Abdel-Fattah SA
FAU - Kyle, P M
AU  - Kyle PM
FAU - Soothill, P W
AU  - Soothill PW
LA  - eng
PT  - Comparative Study
PT  - Journal Article
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Adult
MH  - Amniocentesis
MH  - Chorionic Villi Sampling
MH  - Chromosome Aberrations
MH  - Chromosomes, Human, Pair 13
MH  - *Cytogenetic Analysis
MH  - Female
MH  - Fetal Blood
MH  - Gestational Age
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - *Interphase
MH  - Karyotyping
MH  - Maternal Age
MH  - Pregnancy
MH  - Pregnancy, High-Risk
MH  - Prenatal Diagnosis/*methods
MH  - Trisomy
EDAT- 2000/03/31 09:00
MHDA- 2000/06/08 09:00
CRDT- 2000/03/31 09:00
PHST- 2000/03/31 09:00 [pubmed]
PHST- 2000/06/08 09:00 [medline]
PHST- 2000/03/31 09:00 [entrez]
AID - 10.1002/(SICI)1097-0223(200004)20:4<275::AID-PD799>3.0.CO;2-Z [pii]
AID - 10.1002/(sici)1097-0223(200004)20:4<275::aid-pd799>3.0.co;2-z [doi]
PST - ppublish
SO  - Prenat Diagn. 2000 Apr;20(4):275-80. doi: 
      10.1002/(sici)1097-0223(200004)20:4<275::aid-pd799>3.0.co;2-z.