Tonni Gabriele, Ventura Alessandro, Bonasoni Maria Paola
Prenatal Diagnostic Service, Division of Obstetrics and Gynecology, Guastalla Civil Hospital, Reggio Emilia, Italy.
Congenit Anom (Kyoto). 2009 Sep;49(3):113-5. doi: 10.1111/j.1741-4520.2009.00235.x.
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.
一名27岁孕妇经三维经阴道超声诊断为怀有妊娠9（+5）周的胎儿，患有无脑儿/脑膨出（露脑畸形）序列征。在子宫吸引术前，于宫颈阻滞下经二维经阴道超声引导抽取了5毫升体腔外液体。常规细胞遗传学分析显示核型为92,XXXX。对于接近流产的妇女或在发育早期进行先天性异常产前超声诊断的病例，可建议经阴道二维超声引导下进行体腔穿刺以快速进行核型分析。遗传分析可采用传统细胞遗传学分析，也可借助荧光原位杂交（FISH）技术。体腔穿刺可能会成为孕早期手段的一个组成部分，在理解早期产前诊断的先天性异常的发病机制方面可能具有临床应用价值。
