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2004-02-13 Monosomy X  © Tonni www.thefetus.net/


Monosomy X

Gabriele Tonni, MD

AUSL Reggio Emilia – Italy

This is a case of a 23-year-old primigravida in whom a diagnosis of a septated fetal cystic hygroma with associated subcutaneous edema was made at 13 week and a half (CRL= 72 mm). Two main cysts were identified and measured 27 X 21 and 19 X 17 mm, respectively. After extensive counselling, the patient underwent amniocentesis at 14 weeks that revealed a 45,X0 fetal karyotype (30 metaphases from 2 different cultures were analysed). The patient was then follow-up by weekly ultrasound that documented the progression of the cystic hygroma and the development of hydrops fetalis. The fetus had a spontaneous demise at 17 weeks 4 days of gestation for progressive fetal heart failure.

Hereafter are 3D volume rendering reconstruction

 

(FH= Fetal head, SCH= Septated Cystic Hygroma)

 

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