PMID- 20002903
OWN - NLM
STAT- MEDLINE
DCOM- 20100218
LR  - 20091216
IS  - 1741-4520 (Electronic)
IS  - 0914-3505 (Linking)
VI  - 49
IP  - 3
DP  - 2009 Sep
TI  - Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: 
      early prenatal diagnosis at 9(+5) weeks by 3D transvaginal ultrasound and 
      coelocentesis.
PG  - 113-5
LID - 10.1111/j.1741-4520.2009.00235.x [doi]
AB  - A 27-year-old pregnant woman was diagnosed by 3D transvaginal ultrasound as 
      carrying a fetus of 9(+5) weeks gestation affected by acrania/encephalocele 
      (exencephaly) sequence. A 2D transvaginal ultrasound-guided aspiration of 5 mL of 
      extra-coelomic fluid was performed under cervical block before uterine suction. 
      Conventional cytogenetic analysis demonstrated a 92,XXXX karyotype. Transvaginal 
      2D ultrasound-guided coelocentesis for rapid karyotyping can be proposed to women 
      who are near to miscarriage or in cases where a prenatal ultrasound diagnosis of 
      congenital anomaly is performed at an early stage of development. Genetic 
      analysis can be performed using traditional cytogenetic analysis or can be aided 
      by fluorescence in situ hybridization (FISH). Coelocentesis may become an 
      integral part of first trimester armamentarium and may be clinically useful in 
      the understanding of the pathogenesis of early prenatally diagnosed congenital 
      anomalies.
FAU - Tonni, Gabriele
AU  - Tonni G
AD  - Prenatal Diagnostic Service, Division of Obstetrics and Gynecology, Guastalla 
      Civil Hospital, Reggio Emilia, Italy. tonni.gabriele@ausl.re.it
FAU - Ventura, Alessandro
AU  - Ventura A
FAU - Bonasoni, Maria Paola
AU  - Bonasoni MP
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - Australia
TA  - Congenit Anom (Kyoto)
JT  - Congenital anomalies
JID - 9306292
SB  - IM
MH  - Adult
MH  - Cytogenetic Analysis
MH  - Early Diagnosis
MH  - Encephalocele/diagnosis/*genetics
MH  - Female
MH  - Genetic Testing
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Karyotyping
MH  - Neural Tube Defects/diagnosis/*genetics
MH  - Pregnancy
MH  - Pregnancy Trimester, First
MH  - *Ultrasonography, Prenatal
EDAT- 2009/12/17 06:00
MHDA- 2010/02/19 06:00
CRDT- 2009/12/17 06:00
PHST- 2009/12/17 06:00 [entrez]
PHST- 2009/12/17 06:00 [pubmed]
PHST- 2010/02/19 06:00 [medline]
AID - CGA235 [pii]
AID - 10.1111/j.1741-4520.2009.00235.x [doi]
PST - ppublish
SO  - Congenit Anom (Kyoto). 2009 Sep;49(3):113-5. doi: 
      10.1111/j.1741-4520.2009.00235.x.