Prenatal diagnosis of turner syndrome

ABSTRACT

Background/Introduction:The proportion of TS \u2013 Q96 ranges from 1/1500 \u2013 1.300 female newborns and about 3% of fetuses. In most of the world, TS can be diagnosed and treated at the early stages of pregnancies. In Vietnam, TS patients are frequently detected at the later stages with serious syndromes. TS diagnosis mainly relies on chromosomal analysis of amnion cells. Thus, prenatal diagnosis of TS is the rationale of this study.\r\n', u'Objectives: Utilize chromosomal analysis and FISH methods to diagnose Turner syndrome from amnion cells. \r\n', u'Subject and method: 30 pregnancies (from week 14-22) with high risks of TS, which were detected by ultrasound scan and triple test, 15 mil amnio fluid is withdrawn for the FISH technique from interphase amniocytes and amnio cultures, chromosomal analysis from metaphase cultured cells. \r\n', u'Results/Outcomes: Chromosomal analysis and FISH analysis give the same results: - 12/30 fetus with TS, 5/30 fetus with normal female results, \u2013 4/30 fetus with normal male normal results, \u2013 4/30 fetus with Down syndrome, \u2013 5/30 fetus with Edward syndrome. 11/12 TS fetus have large cystic hygromas, 9/11 cystic hygromas are separated. 12/12 TS fetus have triple test (+) with the threshold APF \u2264 0.7 MoM, HCG \u2265 2 MoM, uE3 \u2264 0.7 MoM.\r\n', u'Conclusion:Chromosonal analysis and FISH are standards for diagnosing TS fetus. FISH can provide a quick result (48-72h). \r\n', u'