PMID- 27160879
OWN - NLM
STAT- MEDLINE
DCOM- 20171031
LR  - 20191210
IS  - 1476-4954 (Electronic)
IS  - 1476-4954 (Linking)
VI  - 30
IP  - 7
DP  - 2017 Apr
TI  - Avoiding a second amniocentesis to corroborate prenatal diagnosis by using 
      refrigerated samples.
PG  - 839-843
LID - 10.1080/14767058.2016.1188380 [doi]
AB  - OBJECTIVE: This study is aimed to probe the usefulness of refrigerated aliquots 
      of amniotic fluid to be used for fluorescence in situ hybridization (FISH) in 
      order to perform an accurate prenatal diagnosis avoiding the risk related to an 
      additional amniocentesis procedure and the psychological stress to the pregnant 
      woman and her family. METHODS: Non-cultured amniotic fluid (AF) samples were 
      analyzed by FISH. Such samples were divided into two groups. The first one 
      included fresh collected AF (FCAF, N = 30). The second one included refrigerated 
      samples of AF (RSAF, N = 12) to corroborate uncertain chromosome aberration 
      identification obtained by conventional methods. Sample refrigeration did not 
      exceed 18 days. RESULTS: No differences were found between groups. In the RSAF 
      group, three cases of chromosomal mosaicismo and seven cases of pseudomosaicism 
      were corroborated. No alteration adjudicated to aberrant chromosomal line 
      presence was found in born children according to genetic specialists' criteria. 
      In the two remaining cases, applied procedure allowed elucidating fetal sex in 
      one case and the origin of a marker chromosome in the other. CONCLUSIONS: 
      Amniocytes obtained from RAFS are a useful biological material to be assayed by 
      FISH, achieving an accurate prenatal diagnosis and avoiding an additional 
      amniocentesis.
FAU - Mendez-Rosado, L A
AU  - Mendez-Rosado LA
AD  - a National Center of Medical Genetics of Cuba, Havana Medical University , Havana 
      , Cuba and.
FAU - Cuetara, E
AU  - Cuetara E
AD  - b Faculty of Medical Science "Manuel Fajardo" , Havana University , Havana , 
      Cuba.
FAU - Molina-Gamboa, O
AU  - Molina-Gamboa O
AD  - a National Center of Medical Genetics of Cuba, Havana Medical University , Havana 
      , Cuba and.
FAU - Suarez-Mayedo, U
AU  - Suarez-Mayedo U
AD  - a National Center of Medical Genetics of Cuba, Havana Medical University , Havana 
      , Cuba and.
FAU - Huertas-Perez, G
AU  - Huertas-Perez G
AD  - a National Center of Medical Genetics of Cuba, Havana Medical University , Havana 
      , Cuba and.
FAU - Barrios-Martinez, A
AU  - Barrios-Martinez A
AD  - a National Center of Medical Genetics of Cuba, Havana Medical University , Havana 
      , Cuba and.
FAU - Garcia, M
AU  - Garcia M
AD  - a National Center of Medical Genetics of Cuba, Havana Medical University , Havana 
      , Cuba and.
FAU - Morales, E
AU  - Morales E
AD  - a National Center of Medical Genetics of Cuba, Havana Medical University , Havana 
      , Cuba and.
LA  - eng
PT  - Evaluation Study
PT  - Journal Article
DEP - 20160526
PL  - England
TA  - J Matern Fetal Neonatal Med
JT  - The journal of maternal-fetal & neonatal medicine : the official journal of the 
      European Association of Perinatal Medicine, the Federation of Asia and Oceania 
      Perinatal Societies, the International Society of Perinatal Obstetricians
JID - 101136916
SB  - IM
MH  - Adult
MH  - *Amniocentesis/methods/statistics & numerical data
MH  - *Amniotic Fluid/cytology
MH  - Case-Control Studies
MH  - Chromosome Aberrations
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant, Newborn
MH  - Karyotyping/methods
MH  - Pregnancy
MH  - Prenatal Diagnosis/*methods
MH  - Preservation, Biological/*methods
MH  - *Refrigeration
MH  - Reoperation
MH  - Specimen Handling
MH  - Validation Studies as Topic
OTO - NOTNLM
OT  - Amniotic fluid
OT  - FISH
OT  - cytogenetics
OT  - psychological stress
EDAT- 2016/05/11 06:00
MHDA- 2017/11/01 06:00
CRDT- 2016/05/11 06:00
PHST- 2016/05/11 06:00 [pubmed]
PHST- 2017/11/01 06:00 [medline]
PHST- 2016/05/11 06:00 [entrez]
AID - 10.1080/14767058.2016.1188380 [doi]
PST - ppublish
SO  - J Matern Fetal Neonatal Med. 2017 Apr;30(7):839-843. doi: 
      10.1080/14767058.2016.1188380. Epub 2016 May 26.