Mayén MDG, Meléndez HR, Saucedo HJL, Leis MMT, García LM, Quesnel C

Language: Spanish
References: 24
Page: 111-115
PDF size: 128.06 Kb.

ABSTRACT

We described a couple of a 41 year-old Spanish man and a 33 year-old Mexican woman, non consanguineous. The woman had hypotiroidism previous to pregnancy treated with substitution therapy. The triple marker in maternal serum shows low non-conjugated estriol comparing with the other hormonal determinations. A high resolution ultrasound showed omphalocele and oligoamnios. The karyotype in amniotic fluid cells showed mos47,XX,+14 [13] / 46,XX [12] in 25 cells analyzed. The karyotype in a 20 week of gestation fetus was a 46,XX karyotype in skin and 47,XX+14 in chorionic villus sample. Olygoamnios and omphalocele were not yet described in similar cases. It is important to perform karyotype in different tissues in a fetus, in particular when mosaicism is detected at prenatal cytogenetics. We should consider UPD in this case because of the presence of a major malformation and an apparent normal disomic line in fetus’ skin. Even this condition is consider a sporadic case, it´s important to offer prenatal diagnosis studies in next pregnancies.

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