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(from week 14-22) with high risks of TS, which were detected by ultrasound scan and triple test, 15 mil amnio fluid is withdrawn for the FISH technique from interphase amniocytes and amnio cultures, chromosomal analysis from metaphase cultured cells.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

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 down syndrome, turner syndrome by using fluorescence in situ hybridization (FISH) technique with chromosome analysis from amniotic cell

Background: FISH can detect number and structural chromosome aberrations in DNA. FISH is new technique in Vietnam, we combine FISH with chromosome analysis to prenatal diagnosis Down syndrome and turner syndrome that are high rate in birth defect.Objectives: To detect Down syndrome and turner syndrome by using FISH technique with chromosome analysis from amniotic cell.Subjects and method: 14amniotic cells samples 15th - 20th week with high risk of birth defects. Advance using FISH and chromosome analysis from amniotic cell. Results: We obtained results as follow: - 14/14 samples: correspondence between FISH and chromosome analysis. \ufffd?Detected 2 Down syndrome (female. Trisomi 21) and 4 Turner syndrome (45, X). Conclusion: Detected Down syndrome and Turner syndrome by using FISH technique with chromosome analysis from amniotic cell.

Screening for down syndrome fetus by alpha-fetoprotein and beta human chorionic gonadotropin in maternal serum \r\n', u'

Background: The fetus having risk for Down sydrome (DS) can be detected early by AFP, \u03b2hCG in maternal serum to detect the fetus having risk of Down sydrome. Objectives: Determining values of AFP, \u03b2hCG in maternal serum to detect the fetus having risk of DS. Subjects and method: Determining the concentration of AFP, \u03b2hCG in maternal serum of 591 pregnant with fetus \ufffd?12 weeks to detect the fetus having DS screening risk. The fetus are diagnosed DS by analysing chromosome from amniocyte and monitor up to the neonate. Then, finding out association between DS fetus and AFP, \u03b2hCG in maternal serum. Results: 75/591 of subjects screened were screen positive, 6/7 DS fetus associated withscreen positive, (cut off AFP \ufffd?0,75 MoM, \u03b2hCG \ufffd?2,2 MoM). Detection rate (DR) was 85,71%; false positive rate (FDR): 11,81%. Only base on AFP: DR was 71,43%; FDR: 11,81%. Only base on \u03b2hCG DR was 28,57%; FDR: 0,51%. Conclusion: DR base on AFP is higher than base on \u03b2hCG. If combining AFP and \u03b2hCG, DR is the highest. AFP is important role in screening DS fetus.

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'

Human prenatal sex determination using multiplex polymerase chain reaction (PCR)

A sex determination method has been developed using the polymerase chain reaction (PCR) which involved the amplification of sex determining region Y (SRY) gene and the amplification of the HLA-DQ gene as an internal control, in the one PCR reaction using two sex of the primers. The PCR products were sort ADN of 139 bp for SRY and 239/242 bp for HLA-DQ region spectively. The amplification of this method in prenatal diagnosis to prevent genetic diseases, in forensic science.

Antimutagenic reduction of chromosomal aberration in peripheral blood lymphocyte of flavonoid

Study on lymphocyte culture technique of 20 peripheral blood sample, which were taken from adults nerve exposed with radiation and toxic chemical. The result showed that The chromosome aberration were caused by dose of 20rad. When radiation effect at the hour of 68 can cause chromosomal aberrations especially in chromatic aberrations. Flavonoid can reduce chromosomal aberration but it wasn't significant.