Congenital megaurethra in a fetus with Meckel syndrome and in a fetus with female pseudoermanphroditism. The first report of these occurrences.

Autor: Di Meglio L; 'Sapienza'University of Rome, Rome, Italy., Mazzarelli LL; 'Aniello di Meglio' Ultrasound and Prenatal Diagnosis, Naples, Italy., Boscaino A; 'A. Cardarelli' Company Hospital, Naples, Italy., Cancemi D; 'Cancemi' Research and Genetic Diagnosis, Naples, Italy., Morelli F; Institute of Genetics and Biophysics Buzzati-Traverso, CNR Naples, Italy., Lonardo MC; 'Aniello di Meglio' Ultrasound and Prenatal Diagnosis, Naples, Italy., Lonardo V; 'Federico II' University of Naples, Naples, Italy., Friso P; 'A. Cardarelli' Company Hospital, Naples, Italy., Spampanato C; Telethon Institute of Genetics and Medicine (TIGEM) Naples, Italy., Urciuoli M; (SUN) II University of Naples, Naples, Italy., Ventruto M; 'Giuseppe Moscati' Hospital, Avellino, Naples, Italy., Ventruto V; Institute of Genetics and Biophysics Buzzati-Traverso, CNR Naples, Italy.
Jazyk: angličtina
Zdroj: Journal of prenatal medicine [J Prenat Med] 2014 Apr-Jun; Vol. 8 (3-4), pp. 42-6.
Abstrakt: Objective: the purpose of this paper is to report the first case of megaurethra in a fetus with Meckel syndrome and in a fetus with femal pseudoermaphroditism.
Results: the former case refers to a fetus of 13 weeks gestation with the three following prominent anomalies, observed by transonic scan and confirmed by autopsy: congenital megaurethra, anal atresia, single umbelical artery. The latter case refers to a fetus of 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karytype. The megaurethra was discovered by sonography at 18 weeks gestation. Autopsy confirmed penile malformation and revealed ovaries in the abdomen. The karyotype was 46,XX with normal molecular karyotype (Array-CGH, 1 Mb of resolution).
Methods: transonic scan, autopsy, karyotype, array-CGH.
Conclusions: the first prenatal cases of two genetic syndromes with megaurethra have been reported, concening respectively a fetus with Meckel syndrome and a fetus with femal pseudoermaphroditism. The latter was confirmed by both autopsy and the normal female 46,XX karyotype.
Databáze: MEDLINE
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