Real possibilities of prenatal diagnosis of translocation form Down’s syndrome

2018 ◽  
Author(s):  
O.L. Galkina, E.V. Vlasenko, N.B. Shmakova, O.V. Sahar
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Trisomy 21 ◽  
Perinatal Outcome ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Biochemical Screening ◽  
Ultrasound Evaluation ◽  
Prenatal Examination

Objective: analyses of real possibilities of prenatal diagnosis of translocation form Down’s syndrome. Materials: 243 cases of Down's syndrome were diagnosed within 15 years, translocation variant of trisomy 21 was found in 5 cases (2 %). The article provides the analyses of the results of prenatal examination of the fetuses with the translocation form of Down's syndrome. Results: in all 5 cases abnormal biochemical screening and ultrasound markers of chromosomal abnormalities were recorded. Prenatal karyotyping was carried out in one observation. In 4 cases cytogenetic diagnosis was performed postnatally. The perinatal outcome is known in all the observations. Conclusion: Prenatal diagnosis of the translocation form of Down's syndrome is possible in most cases, provided that the screening time of the examination of pregnant women is met and the indications for an expert ultrasound evaluation of the fetus using the latest technology are broadened

scholarly journals Early prenatal biochemical screening, present state, current problems and options

2012 ◽  
Vol 61 (3) ◽  
pp. 69-74
Author(s):  
Tat'yana Konstantinovna Kascheeva ◽  
Yukiya Anatolevna Nikolaeva ◽  
Vladislav Sergeevich Baranov ◽  
Konstantin Romanovich Karpov ◽  
Nataliya Vasilevna Vokhmyanina ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Present State ◽  
Detection Rate ◽  
Chromosomal Abnormalities ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Biochemical Screening ◽  
Saint Petersburg

In Saint-Petersburg total biochemical screening for Down’s syndrome in 2-d trimester have been established since 1997. Also all pregnant women underwent ultrasound examinations for screening for chromosomal abnormalities. Results of introduction of 1-st trimester combined screening since 2006, its influence for detection rate, achievements and problems were discussed in our paper

Trisomy 21 in One of Twin Fetuses

PEDIATRICS ◽  
1978 ◽  
Vol 62 (1) ◽  
pp. 52-53
Author(s):  
Richard H. Heller ◽  
Lee S. Palmer
Keyword(s):  
Prenatal Diagnosis ◽  
Trisomy 21 ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Healthy Infant ◽  
The Other ◽  
Technical Problems ◽  
The Family ◽  
Successful Execution

Both the detection of twins and the successful execution of a double amniocentesis pose significant technical problems in prenatal diagnosis. A case is reported in which one of twin fetuses had trisomy 21 and the other was chromosomally normal. Following counseling, the family chose to continue the pregnancy. At term, the mother was delivered of a healthy infant and a severely macerated fetus with stigmata suggestive of Down's syndrome.

Real opportunities for early prenatal diagnosis of omphalocele

2020 ◽  
Author(s):  
O.L. Galkina, N.A. Savel'eva, I.V. Poddubnaya
Keyword(s):  
Prenatal Diagnosis ◽  
Fetal Development ◽  
Perinatal Outcome ◽  
Congenital Heart ◽  
Chromosomal Abnormalities ◽  
Heart Defects ◽  
First Trimester ◽  
Prenatal Counseling ◽  
First Trimester Of Pregnancy ◽  
Prenatal Examination

During 5 years in the first trimester of pregnancy 82 cases of congenital anomalies of fetal development were diagnosed, in 14 cases (17%) an omphalocele was found. An analysis of the results of prenatal examination of fetuses with omphalocele in an isolated and combined version has been carried out. In 78% of cases, omphalocele was combined with other fetal anomalies, most often with congenital heart defects (82%). The frequency of chromosomal abnormalities in fetuses with omphalocele was 69%. Perinatal outcome in the case of early prenatal omphalocele diagnosis is unfavorable in 93% of cases. Early prenatal diagnosis of omphalocele is possible in 100% of cases. Diagnosed in the first trimester of pregnancy, omphalocele is an indication for an extended anatomical evaluation of the fetus with the aim of forming a clinical hypothesis and conducting timely optimal prenatal counseling.

scholarly journals Application of Chromosome Microarray Analysis and Karyotype Analysis in Diagnostic Assessment of Abnormal Down's Syndrome Screening Results

2021 ◽  
Author(s):  
Han Kang ◽  
Lingxi Wang ◽  
Xingyu Li ◽  
Chonglan Gao ◽  
Yamei Xie ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Pregnant Women ◽  
Microarray Analysis ◽  
Sex Chromosome ◽  
Karyotype Analysis ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Balanced Translocation

Abstract Background: Although screening for fetal aneuploidy with the use of cell-free DNA obtained from maternal plasma is highly effective, biomarkers screening is in extensive use in economically underdeveloped areas and poor population. This study aims to explore the application value of chromosomal microarray analysis (CMA) and karyotype analysis in prenatal diagnosis for pregnant women with abnormal Down’s syndrome (DS) screening results.Methods: The study recruited 813 pregnant women with abnormal DS screening results from Chengdu Women’s and Children’s Central Hospital. They underwent amniocentesis to obtain fetal amniotic fluid for CMA and G-band karyotype analysis. An Affymetrix CytoScan 750 K Array chip was used for CMA analysis according to the manufacturer’s instructions.Results: In total, CMA identified 21/813 abnormal results, which was more efficient than karyotype analysis(10/813, P<0.001.) CMA is equivalent to traditional karyotype analysis for the prenatal diagnosis of aneuploidies. However, CMA identified 1.60% more copy number variants(CNVs) than karyotype analysis. These pathogenic/likely pathogenic(P/LP) CNVs ranged from 159Kb deletion to 3616Kb deletion. 53.8% of them were recurrent pathogenic CNVs associated with risk of neurodevelopmental disorders. CMA identified 7 variants of uncertain significance (VUS) results, including 6 microduplication and 1 microdeletion, with the size ranged from 840kb-1484kb. Karyotype analysis identified 2 mosaic sex chromosome aneuploidy, 2 balanced translocation and 1 mosaic balanced translocation, which could not be identified by CMA. Conclusions: Performing both CMA and karyotype analysis simultaneously is more beneficial to pregnant women with abnormal DS screening results.

Dual and multiple trisomies: analysis of 38 cases from 13 thousand karyotyped embryos and fetuses

2017 ◽  
pp. 109-115
Author(s):  
N.P. Veropotvelyan ◽  
Keyword(s):  
Prenatal Diagnosis ◽  
High Risk ◽  
Pregnant Women ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Chorionic Villus ◽  
Primary Group ◽  
Chorionic Villus Sampling ◽  
Missed Abortion ◽  
Reproductive Losses

The study presents data of different authors, as well as its own data on the frequency of multiple trisomies among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of chromosomal abnormalities (CA) in I and II trimesters of gestation. The objective: determining the frequency of occurrence of double (DT) and multiple trisomies (MT) among the early reproductive losses in the I trimester of pregnancy and live fetuses in pregnant women at high risk of occurrence of HA in I and II trimesters of gestation; establishment of the most common combinations of diesel fuel and the timing of their deaths compared with single regular trisomy; comparative assessment materinskogo age with single, double and multiple trisomies. Patients and methods. During the period from 1997 to 2016, the first (primary) group of products in 1808 the concept of missed abortion (ST) of I trimester was formed from women who live in Dnepropetrovsk, Zaporozhye, Kirovograd, Cherkasy, Kherson, Mykolaiv regions. The average term of the ST was 8±3 weeks. The average age of women was 29±2 years. The second group (control) consisted of 1572 sample product concepts received during medical abortion in women (mostly residents of Krivoy Rog) in the period of 5-11 weeks of pregnancy, the average age was 32 years. The third group was made prenatally karyotyped fruits (n = 9689) pregnant women with high risk of HA of the above regions of Ukraine, directed the Centre to invasive prenatal diagnosis for individual indications: maternal age, changes in the fetus by ultrasound (characteristic malformations and echo markers HA) and high risk of HA on the results of the combined prenatal screening I and II trimesters. From 11 th to 14 th week of pregnancy, chorionic villus sampling was performed (n=1329), with the 16th week – platsentotsentez (n=2240), 18 th and 24 th week – amniocentesis (n=6120). Results. A comparative evaluation of maternal age and the prevalence anembriony among multiple trisomies. Analyzed 13,069 karyotyped embryonic and fetal I-II trimester of which have found 40 cases of multiple trisomies – 31 cases in the group in 1808 missed abortion (2.84% of total HA), 3 cases including 1 572 induced medabortov and 7 cases during 9689 prenatal research (0.51% of HA). Determined to share the double trisomies preembrionalny, fetal, early, middle and late periods of fetal development. Conclusion. There were no significant differences either in terms of destruction of single and multiple trisomies or in maternal age or in fractions anembrionalnyh pregnancies in these groups. Key words: multiple trisomies, double trisomy, missed abortion, prenatal diagnosis.

Genetic variation in the COL6A1 region is associated with congenital heart defects in trisomy 21 (Down's syndrome)

1995 ◽  
Vol 59 (3) ◽  
pp. 253-269 ◽  
Author(s):  
G. E. DAVIES ◽  
C. M. HOWARD ◽  
M. J. FARRER ◽  
M. M. COLEMAN ◽  
L. B. BENNETT ◽  
...  
Keyword(s):  
Genetic Variation ◽  
Congenital Heart Defects ◽  
Trisomy 21 ◽  
Congenital Heart ◽  
Heart Defects ◽  
Down's Syndrome ◽  
Down’S Syndrome

Abnormal renal function as a cause of false-positive biochemical screening for Down's syndrome

The Lancet ◽  
1997 ◽  
Vol 350 (9087) ◽  
pp. 1295 ◽  
Author(s):  
V Cararach ◽  
E Casals ◽  
S Martínez ◽  
F Carmona ◽  
C Aibar ◽  
...  
Keyword(s):  
Renal Function ◽  
False Positive ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Biochemical Screening ◽  
Abnormal Renal Function

Immunochemical quantification of Cu/Zn superoxide dismutase in prenatal diagnosis of Down's syndrome

1990 ◽  
Vol 85 (3) ◽  
pp. 362-366 ◽  
Author(s):  
Tomas Porstmann ◽  
Roselotte Wietschke ◽  
Günther Cobet ◽  
Katja Lorenz ◽  
Roland Grunow ◽  
...  
Keyword(s):  
Superoxide Dismutase ◽  
Prenatal Diagnosis ◽  
Down's Syndrome ◽  
Down’S Syndrome

PP350 Study On The Awareness, Willingness To Pay And Satisfaction With Non-Invasive Prenatal Testing Among Pregnant Women

2020 ◽  
Vol 36 (S1) ◽  
pp. 30-30
Author(s):  
Changjia Fan ◽  
Wenru Shang ◽  
Jiayan Huang ◽  
Yang Wan
Keyword(s):  
Willingness To Pay ◽  
Pregnant Women ◽  
Birth Defects ◽  
Financial Burden ◽  
Down's Syndrome ◽  
Prenatal Testing ◽  
Down’S Syndrome ◽  
Anhui Province ◽  
Screening Methods ◽  
Non Invasive

IntroductionBirth defects seriously affect children's survival and quality of life and bring great suffering and financial burden to children and their families. Down's syndrome is one of the most common birth defects. Compared with traditional serological screening methods, non-invasive prenatal testing (NIPT) has higher sensitivity and specificity in the screening of Down's syndrome. In April 2017, the People's Government of Fuyang City, Anhui Province launched a NIPT free screening program. From the perspective of the beneficiary, this research investigated the awareness, willingness to pay and satisfaction of pregnant women in Fuyang City, Anhui Province, to better improve the use of NIPT.MethodsA questionnaire survey was conducted on 1,221 pregnant women who experienced this program in Fuyang City, Anhui Province. Multivariate ordered logistic regression models were established to analyze the factors affecting the satisfaction of NIPT.ResultsA total of 1,217 valid questionnaires were collected. Research indicated 82.5 percent knew about NIPT and 81.9 percent were willing to pay personally when its price was CNY 800 (USD 113.88) per test among pregnant women. The satisfaction of pregnant women with NIPT showed that the waiting time for test results was relatively low (4.5 out of 5 points) compared with other aspects of satisfaction. The higher the education level of the pregnant women, the lower their satisfaction with NIPT.ConclusionsIt is necessary to pay attention to the characteristics of education and to improve the awareness and satisfaction of NIPT among pregnant women. Meanwhile, if it is affordable enough for NIPT services to be provided by the government, this mode should be promoted. In conjunction with the willingness to pay of pregnant women, NIPT payment methods should be developed appropriately.

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