PMID- 24340530
OWN - NLM
STAT- MEDLINE
DCOM- 20140313
LR  - 20131212
IS  - 0048-7848 (Print)
IS  - 0048-7848 (Linking)
VI  - 117
IP  - 2
DP  - 2013 Apr-Jun
TI  - Prenatal diagnosis of gonosomal anomalies: limitations of the FISH method and 
      genetic counseling difficulties in 15 cases.
PG  - 450-6
AB  - Prenatal diagnosis (PD) by FISH or cell culture is today an important tool for 
      the prevention of chromosomal anomalies. A difficult issue is prenatal detection 
      of gonosomal anomalies. Most gonosomal anomalies neither affect life expectancy 
      nor cause psychomotor retardation, but sexualization disorders and the lack of 
      reproductive potential are a constant finding. AIM: This study aimed at 
      identifying the medical problems the specialists and the parental couple are 
      faced with at the time of the diagnosis of fetal gonosomal anomalies. MATERIAL 
      AND METHODS: This retrospective study (2004-2012) was conducted in the Prenatal 
      Genetic Diagnosis Department of "CuzaVoda" Maternity by FISH technique in 1685 
      pregnancies. The AneuVysion probes were used for identifying and enumerating 
      chromosomes 13, 18, 21, X, and Y via fluorescence in situ hybridization (FISH) in 
      interphase nuclei obtained from amniotic fluid. RESULTS: Fifteen fetuses were 
      selected in which we were faced with difficulties interpreting the number of 
      gonosomes: monosomy X (5 cases), pseudomosaicism XX/XY (3), trisomy XXY (3 
      cases), trisomy XYY (1 case), 45,X/46.XX mosaicism (1 case) and triploidy XXX (2 
      cases). Later, by repeating the analysis, 2 cases with pseudomosaicism XX/XY were 
      excluded. A case highlighting the limitations of the FISH test was that of a 
      fetus in which the FISH test revealed trisomy XXY, while postnatal karyotyping 
      showed a six cell line mosaicism (marker and ring X chromosomes). CONCLUSIONS: 
      All parental couples received nondirective genetic counseling, respecting the 
      individuals' dignity and rights of self-determination. Parents received 
      information on the natural course of the disease, treatment options, and 
      psychological support and were involved in their child's recovery.
FAU - Braha, Elena
AU  - Braha E
AD  - Medical Genetics Department, Faculty of Medicine, University of Medicine and 
      Pharmacy "Grigore T. Popa'- Iasi.
FAU - Martiniuc, Violeta
AU  - Martiniuc V
FAU - Panzaru, Monica
AU  - Panzaru M
FAU - Caba, Lavinia
AU  - Caba L
FAU - Butnariu, Lacramioara
AU  - Butnariu L
FAU - Onofriescu, M
AU  - Onofriescu M
FAU - Socolov, Demetra
AU  - Socolov D
FAU - Grigore, Mihaela
AU  - Grigore M
FAU - Nemescu, D
AU  - Nemescu D
FAU - Mihalceanu, Elena
AU  - Mihalceanu E
FAU - Iliev, G
AU  - Iliev G
FAU - Gorduza, E V
AU  - Gorduza EV
LA  - eng
PT  - Journal Article
PL  - Romania
TA  - Rev Med Chir Soc Med Nat Iasi
JT  - Revista medico-chirurgicala a Societatii de Medici si Naturalisti din Iasi
JID - 0413735
SB  - IM
MH  - Female
MH  - *Genetic Counseling/methods
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence/methods
MH  - Karyotyping
MH  - Predictive Value of Tests
MH  - Pregnancy
MH  - Prenatal Care
MH  - *Prenatal Diagnosis/methods
MH  - Retrospective Studies
MH  - Sensitivity and Specificity
MH  - Sex Chromosome Disorders/*diagnosis/*genetics
MH  - Trisomy/diagnosis/genetics
EDAT- 2013/12/18 06:00
MHDA- 2014/03/14 06:00
CRDT- 2013/12/18 06:00
PHST- 2013/12/18 06:00 [entrez]
PHST- 2013/12/18 06:00 [pubmed]
PHST- 2014/03/14 06:00 [medline]
PST - ppublish
SO  - Rev Med Chir Soc Med Nat Iasi. 2013 Apr-Jun;117(2):450-6.