PMID- 20045588
OWN - NLM
STAT- MEDLINE
DCOM- 20100601
LR  - 20100308
IS  - 1872-7654 (Electronic)
IS  - 0301-2115 (Linking)
VI  - 149
IP  - 2
DP  - 2010 Apr
TI  - First-trimester prenatal diagnosis performed on pregnant women with fetal 
      ultrasound abnormalities: the reliability of interphase fluorescence in situ 
      hybridization (FISH) on mesenchymal core for the main aneuploidies.
PG  - 143-6
LID - 10.1016/j.ejogrb.2009.12.015 [doi]
AB  - OBJECTIVES: To examine the reliability of interphase FISH analysis of the main 
      aneuploidies performed on mesenchymal core when prenatal diagnosis was performed 
      on pregnant women with first-trimester fetal abnormalities on ultrasound. STUDY 
      DESIGN: 386 first-trimester prenatal examinations were investigated from 
      chorionic villus samplings for increased nuchal translucencies or other fetal 
      ultrasound abnormalities. Interphase fluorescence in situ hybridization (FISH) 
      for the main aneuploidies (trisomies 13, 18, 21 and gonosomal aneuploidies) was 
      performed on the mesenchymal core of villi. Molecular cytogenetic results were 
      always complemented by conventional cytogenetic results on long-term cultured 
      villi (LTC-villi). Short-term cultured villi (STC-villi) preparations were 
      retrospectively performed only when a chromosomal abnormality was observed with 
      interphase FISH and/or LTC-villi. RESULTS: 88 chromosomal abnormalities 
      (88/386=22.8% of first-trimester diagnoses) which could discuss subsequent 
      abortions were observed after LTC-villi preparations. All cases possibly 
      detectable by interphase FISH were detected. Thus, 85 aneuploidies (85/386=22.0% 
      of first-trimester diagnoses; 85/88=96.6% of chromosomal abnormalities) were 
      detected by interphase FISH, allowing early abortion by curettage before week 14 
      amenorrhea. No discrepancy occurred between interphase FISH and LTC-villi results 
      for the aneuploidies studied. Three false-negative results (3/386=0.77% of 
      first-trimester diagnoses; 3/88=3.41% of chromosomal abnormalities) were observed 
      with STC-villi. CONCLUSION: We observed a high rate of false-negative results on 
      cytotrophoblast cells. Conversely, interphase FISH of the main aneuploidies on 
      the mesenchymal core provided rapid and reliable results, and therefore should be 
      preferred to STC-villi in first-trimester prenatal diagnosis performed on 
      pregnant women with fetal abnormalities on ultrasound.
CI  - Copyright (c) 2009 Elsevier Ireland Ltd. All rights reserved.
FAU - Toutain, J
AU  - Toutain J
AD  - Fetal Medicine Center, University Hospitals, Bordeaux, France.
FAU - Epiney, M
AU  - Epiney M
FAU - Begorre, M
AU  - Begorre M
FAU - Dessuant, H
AU  - Dessuant H
FAU - Vandenbossche, F
AU  - Vandenbossche F
FAU - Horovitz, J
AU  - Horovitz J
FAU - Saura, R
AU  - Saura R
LA  - eng
PT  - Journal Article
DEP - 20100104
PL  - Ireland
TA  - Eur J Obstet Gynecol Reprod Biol
JT  - European journal of obstetrics, gynecology, and reproductive biology
JID - 0375672
SB  - IM
MH  - Aneuploidy
MH  - Chorionic Villi Sampling/methods
MH  - Chromosome Aberrations
MH  - Chromosome Disorders/*diagnosis
MH  - False Negative Reactions
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Interphase
MH  - Pregnancy
MH  - *Pregnancy Trimester, First
MH  - Prenatal Diagnosis/*methods
MH  - Retrospective Studies
MH  - Ultrasonography, Prenatal
EDAT- 2010/01/05 06:00
MHDA- 2010/06/02 06:00
CRDT- 2010/01/05 06:00
PHST- 2009/08/17 00:00 [received]
PHST- 2009/11/12 00:00 [revised]
PHST- 2009/12/11 00:00 [accepted]
PHST- 2010/01/05 06:00 [entrez]
PHST- 2010/01/05 06:00 [pubmed]
PHST- 2010/06/02 06:00 [medline]
AID - S0301-2115(09)00737-4 [pii]
AID - 10.1016/j.ejogrb.2009.12.015 [doi]
PST - ppublish
SO  - Eur J Obstet Gynecol Reprod Biol. 2010 Apr;149(2):143-6. doi: 
      10.1016/j.ejogrb.2009.12.015. Epub 2010 Jan 4.