PMID- 26716606
OWN - NLM
STAT- MEDLINE
DCOM- 20161102
LR  - 20161230
IS  - 1097-0223 (Electronic)
IS  - 0197-3851 (Linking)
VI  - 36
IP  - 2
DP  - 2016 Feb
TI  - Chromosomal anomalies in early spontaneous abortions: interphase FISH analysis on 
      855 FFPE first trimester abortions.
PG  - 186-91
LID - 10.1002/pd.4768 [doi]
AB  - OBJECTIVE: Cytogenetic analysis of spontaneous abortuses presents at least two 
      main challenges, cell culture failure, and excess of normal female karyotypes 
      related to maternal cell contamination (MCC). Molecular cytogenetic techniques 
      using uncultured cell suspension overcome cell culture failure, but do not 
      resolve MCC at all. The aim of the present study is to demonstrate that 
      interphase fluorescence in situ hybridization (FISH) on routine formalin-fixed 
      paraffin embedded (FFPE) abortive materials is an efficient method to identify 
      chromosomal anomalies in abortuses and to detect MCC. METHOD: Interphase FISH 
      with a panel of eight probes was applied on 855 FFPE consecutive early 
      spontaneous abortions. RESULTS: Male/female ratio was 0.88 in the complete 
      sample, 0.9 in the group of negative FISH result, and 0.8 in the group with 
      abnormal FISH results, suggesting that no gender predominance was present in our 
      data. The aneuploidy rate was 50.3%. Autosomal trisomies were 60%, polyploidies 
      23.2%, and X monosomy 14%. Chromosomal mosaicism was discovered in 1.9% with six 
      cases of confined placental mosaicism. CONCLUSION: FISH on FFPE abortion 
      materials appears to be a successful approach to detect chromosomal anomalies in 
      abortions. Moreover, the preservation of the tissue morphology allows the 
      analysis of only the fetal cells, making the presence of maternal tissues 
      irrelevant.
CI  - (c) 2015 John Wiley & Sons, Ltd.
FAU - Russo, Rosa
AU  - Russo R
AD  - Department of Pathology, Molecular Genetics Laboratory, University Medical 
      Hospital, S. Giovanni di Dio e Ruggi D'Aragona, Salerno, Italy.
FAU - Sessa, Anna Maria
AU  - Sessa AM
AD  - Department of Pathology, Molecular Genetics Laboratory, University Medical 
      Hospital, S. Giovanni di Dio e Ruggi D'Aragona, Salerno, Italy.
FAU - Fumo, Rosalba
AU  - Fumo R
AD  - Department of Pathology, Molecular Genetics Laboratory, University Medical 
      Hospital, S. Giovanni di Dio e Ruggi D'Aragona, Salerno, Italy.
FAU - Gaeta, Sara
AU  - Gaeta S
AD  - Department of Pathology, Molecular Genetics Laboratory, University Medical 
      Hospital, S. Giovanni di Dio e Ruggi D'Aragona, Salerno, Italy.
LA  - eng
PT  - Journal Article
DEP - 20160125
PL  - England
TA  - Prenat Diagn
JT  - Prenatal diagnosis
JID - 8106540
SB  - IM
MH  - Abortion, Spontaneous/*genetics
MH  - Aneuploidy
MH  - *Chromosome Aberrations
MH  - Female
MH  - Fluorescence Resonance Energy Transfer
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Male
MH  - Mosaicism
MH  - Polyploidy
MH  - Pregnancy
MH  - Pregnancy Trimester, First
MH  - Trisomy
EDAT- 2015/12/31 06:00
MHDA- 2016/11/03 06:00
CRDT- 2015/12/31 06:00
PHST- 2015/03/30 00:00 [received]
PHST- 2015/12/15 00:00 [revised]
PHST- 2015/12/23 00:00 [accepted]
PHST- 2015/12/31 06:00 [entrez]
PHST- 2015/12/31 06:00 [pubmed]
PHST- 2016/11/03 06:00 [medline]
AID - 10.1002/pd.4768 [doi]
PST - ppublish
SO  - Prenat Diagn. 2016 Feb;36(2):186-91. doi: 10.1002/pd.4768. Epub 2016 Jan 25.