Prenatal diagnosis by FISH technique in fetal cystic hygromas

Background: Cystic hygromas is a common abnormal event in obstetrics ultrasound, which is induced by a chromosome disorder; it is also one of the major causes inducing fetus\u2019s congenital malformation. Objective: Determining chromosomal aberration in nuchal cystic hygromas by FISH technique and outcomes the value of factors in prognosis fetuses with cystic hygroma. Subject and methods: 53 fetuses with cystic hygroma, which are detected by ultrasound scan, are analyzed by FISH technique. Compare results of FISH, band G chromosomal analysis, ultrasonographic abnormalities, followed the fetuses. Results: Chromosomal and FISH analysis give the same detection: abnormal chromosomes: 75.46%, the highest rate is Turner syndrome: 50.94%, normal chromosome: 24.53%. Abnormal chromosomal fetuses: multi-malformation, grim prognosis. Cystic hygroma with other malformation in scan: high rate chromosomal aberrations and septated hygroma, Turner syndrome fetuses have large cystic hygroma, 4/6 fetuses with normal chromosome and without other abnormal result scan have resolutions of hygroma in the second trimester, normal birth. Conclusions: Abnormal chromosomes: 75.46%. Prognosis is grim: abnormal chromosomes, other malformations in scan, large cystic, septated hygroma. Prognosis is better: normal chromosomes, without other ultrasonographic abnormalities, small cystic, nonseptated hygroma, resolution of cystic hygroma.

Prenatal diagnosis of turner syndrome

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(from week 14-22) with high risks of TS, which were detected by ultrasound scan and triple test, 15 mil amnio fluid is withdrawn for the FISH technique from interphase amniocytes and amnio cultures, chromosomal analysis from metaphase cultured cells.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'

Some ultrasound markers that association with down syndrome fetus

Background: Down syndrome is a developmental disorder caused by an extra copy of chromosome 21, is a condition in which extra genetic material causes delays in the way a child develops, both mentally and physically. It affects about 1 in every 700 babies. The fetus having high risk for Down syndrome (OS) can be detected early by ultrasound. Objectives: The aim of the study is to find out some ultrasound markers that relate to OS fetus. Subjects and method: A descriptive study was carried out on 612 pregnant women with fetus \ufffd?12 weeks by ultrasound to detect abnormal markers in fetus. The fetus were diagnosed Down syndrome by analysis chromosome from amniocyte and monitor up to the neonate. Then, finding out association between OS fetus and ultrasound markers. Results: Among 612 pregnant women,36/12 pregnant women had abnormal imaging in fetus, 11/12 pregnant women had OS fetus. There were 12 pregnant women detected OS fetus. 6/12 OS fetus associated with the maker of nuchal skin fold (cut off 2: 3mm at the first trimester and 2: 6 mm at the second trimester): Detection rate (DR) was 50%; false positive rate (FOR): 0,83%. 3/12 OS fetus associated with the marker of duodenal atresia. DR was 25%; FOR: 0%. Conclusions: The two common markers associated with OS fetus: \r\n', u'the first marker was nuchal skin fold (with cut off 2: 3mm at the first trimester and > 6 mm at the second trimester) and the second marker was duodenal atresia. \r\n', u' \r\n', u'