January - March 2015, Volume 11, Issue 1

Grigore M, Vulpoi C, Preda C, Martiniuc V, Vasiliu I, Gorduza V

Using HD live Technology to Diagnose Turner Syndrome in the First Trimester of Pregnancy. Case Reports

Acta Endo (Buc) 2015, 11 (1): 93-98
doi: 10.4183/aeb.2015.93

Abstract Introduction. Turner syndrome, a genetic disorder with an exclusively feminine phenotype, is caused by complete or partial X monosomy in some or all cells. Although the condition is usually diagnosed after birth, now, it is possible to detect the syndrome prenatally. Case reports. We present two cases of Turner syndrome diagnosed during the first trimester of pregnancy. The condition was suspected because of several ultrasound signs and was confirmed in both cases after an invasive prenatal technique. In one case, the fluorescent in situ hybridization technique was applied. In the other case, the chromosomal anomaly was detected using the G banding technique. Threedimensional ultrasound and HDlive technology were extremely useful in helping the patients to better understand the fetal pathology and accept an invasive procedure as a final step in establishing the diagnosis. Conclusion. These cases demonstrate the importance of using ultrasound as a screening method to detect suspected cases of Turner syndrome, however, the disorder needs to be confirmed with chromosomal analysis after performing an invasive prenatal technique.

Keywords: Turner syndrome, 3D ultrasound, prenatal diagnosis, HDlive ultrasound.

Correspondence: Mihaela Grigore MD, Department of Obstetrics and Gynaecology, University of Medicine and Pharmacy “Grigore T. Popa”, Iasi, Str. Universitatii 16, Iasi, 700115, Romania. Tel: +40 744 438024. Fax: +40 232 221516, E-mail: mihaela.grigore@edr.ro