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Acrania/encephalocele sequence (exencephaly) associated with 92,XXXX karyotype: Early prenatal diagnosis at 9 +5 weeks by 3D transvaginal ultrasound and coelocentesis
Author(s) -
Tonni Gabriele,
Ventura Alessandro,
Bonasoni Maria Paola
Publication year - 2009
Publication title -
congenital anomalies
Language(s) - English
Resource type - Journals
eISSN - 1741-4520
pISSN - 0914-3505
DOI - 10.1111/j.1741-4520.2009.00235.x
Subject(s) - encephalocele , exencephaly , medicine , prenatal diagnosis , miscarriage , ultrasound , products of conception , karyotype , fetus , obstetrics , anatomy , gestation , pregnancy , radiology , biology , teratology , genetics , chromosome , gene
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.