Prospective experience with contingent screening strategy for Down syndrome in Estonia

Muru, Kai; Sitska, Mari; Asser, Karin; Ehrenberg, Aivar; Karro, Helle; Õunap, Katrin; Reimand, Tiia

doi:10.1007/s12687-010-0020-2

Cited by 5 publications

(5 citation statements)

References 18 publications

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“…The characteristics of the studies are presented in Table 1 . A total of 18 articles 10 16 17 18 19 20 23 24 25 26 27 28 29 30 31 32 33 34 with 183,998 samples were included in this meta-analysis. The sample sizes of these studies ranged from 221 to 37,362, and the average number of samples per study was 10,222.…”

Section: Resultsmentioning

confidence: 99%

Two kinds of common prenatal screening tests for Down’s syndrome: a systematic review and meta-analysis

Yao

Liao

Han

et al. 2016

Sci Rep

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As the chromosomal examination of foetal cells for the prenatal diagnosis of Down’s syndrome (DS) carries a risk of inducing miscarriage, serum screening tests are commonly used before invasive procedures. In this study, a total of 374 records from PubMed, EMBASE, and the ISI Science Citation Index databases were reviewed. As a result of duplication, insufficient data, and inappropriate article types, 18 independent articles containing 183,998 samples were used in the final systematic review and meta-analysis of the diagnostic performance of the serum triple screening test (STS) and the integrated screening test (INS). Data extracted from the selected studies were statistically analysed, and the presence of heterogeneity and publication bias was assessed using specific software. The overall sensitivity, specificity, positive likelihood ratio, negative likelihood ratio, diagnostic odds ratio, and the area under the curve for the STS were 0.77 (95% confidence interval = 0.73–0.81), 0.94 (0.94–0.94), 9.78 (6.87–13.93), 0.26 (0.22–0.31), 44.72 (30.77–65.01), and 0.9064, respectively. For the INS, these values were 0.93 (0.90–0.95), 0.93 (0.93–0.93), 22.38 (12.47–40.14), 0.08 (0.05–0.11), 289.81 (169.08–496.76), and 0.9781, respectively. These results indicate that the INS exhibits better diagnostic value for DS. However, further research is needed to identify other biomarkers to improve prenatal screening tests.

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Section: Resultsmentioning

confidence: 99%

Two kinds of common prenatal screening tests for Down’s syndrome: a systematic review and meta-analysis

Yao

Liao

Han

et al. 2016

Sci Rep

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“…In another study, the detection rate was 88.3% with a false positive rate of 3.4% (Muru et al, 2010).…”

Section: 333mentioning

confidence: 91%

Antenatal Screening Strategies for Down Syndrome: Analysis of Existing Protocols and Implications in the Kingdom of Saudi Arabia

Habib¹

2011

BJMMR

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Background: Down Syndrome (DS) is the most frequent chromosomal abnormality in live births with an incidence of 1 to 1.7 per 1,000 births and a variable physical expression. Down syndrome screening has been an integral part of routine prenatal care in recent decades. Currently, there is no established DS screening program in the Kingdom of Saudi Arabia. Objective: The total number of DS pregnancies is increasing, probably due mainly to the increasing proportion of older mothers. Live birth with DS increased also so, there is an expected increase in long term survivors. There is a need for a well structured system for prenatal diagnosis and follow up program and an extra health care resource. Design: A systematic literature search for various prenatal screening tests for DS were explored regarding the time of screening during pregnancy, detection rate, false positive rate, advantages and disadvantages. Various search engines like Pub med, Medline, Index Medicus were used to review the published literature using the key words "Down syndrome", "antenatal screening", and "Chromosomal abnormalities". Results: Different screening strategies for DS are applied worldwide. In the United Kingdom, the combined test, the integrated test or the serum integrated test is offered for women who present in the first trimester, and the quadruple test for those who present in the second trimester. In the United States, Canada, and Australia the combined test is recommended for the first trimester and the quadruple test for the second trimester. Conclusion:The Quadruple test should be offered to all pregnant women in the second trimester, in addition all women should be offered a second -trimester ultrasound scan to identify major and minor fetal abnormalities. Extensive research is needed to establish accurate incidence of DS in the Kingdom of Saudi Arabia and its relation to maternal age and parity.

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“…Other nationalities occurred very seldom (<1%). According to the Estonian prenatal screening program, if possible a contingent screening strategy for prenatal screening is used [4]. All first trimester serum (1525 women) and ultrasound screening (1589 women), and second trimester screening test (4410 women) results were analyzed ( Figure 1).…”

Section: Prenatal Study Groupmentioning

confidence: 99%

“…First and second trimester screening for aneuploidies has been routinely and widely used in prenatal care in the whole world [1][2][3] and for 15 years in Estonia as well [4]. Estonia is a small country with 1.3 million inhabitants and approximately 14,000 live births per year.…”

Section: Introductionmentioning

confidence: 99%

“…Estonia is a small country with 1.3 million inhabitants and approximately 14,000 live births per year. In Estonia, the second trimester screening program with 2 markersα-fetoprotein (AFP) and Human Chorionic Gonadotropin (HCG) was introduced in 1999, and with 3 markers (AFP, HCG and unconjugated oestriol (uE3) in 2003, first trimester ultrasound screening for Nuchal Translucency (NT) was established in 2001, and combined screening in first trimester, including pregnancy associated plasma protein-A (PAPP-A), free β-Human Chorionic Gonadotropin (free β-HCG) and NT, in 2005 [4].…”

Section: Introductionmentioning

confidence: 99%

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Outcome of Children with Marked Changes in Maternal Screening Tests and Normal Karyotype

Muru¹,

Vals²,

Sitska³

et al. 2014

Hereditary Genet

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Objective: To investigate whether chromosomally normal fetuses with marked changes in maternal serum markers and first trimester ultrasound NT marker have an increased risk of congenital anomalies or delayed development at 2 years of age. Methods: Screening tests of 5257 pregnant women were analyzed during a one-year period. Significant changes in biochemical and/or ultrasound markers were documented in 138 pregnant women, whereas positive risk calculation for chromosomal anomalies was evident in 74 of them, who were included in our study. Postnatal study group included 35 children born from mothers with marked changes in screening tests. Results: Among the 74 pregnant women, a structural or genetic abnormality was diagnosed in 16 cases (21.6%), fetal death occurred in 12 cases (16.2%) and child was healthy at the age of 2 years in 31 cases (41.9%). In 3/4 of the cases, a pathology was diagnosed prenatally, while the remaining 1/4 were discovered postnatally. Four children had with congenital anomalies and/or syndromes: two had congenital heart disease-atrial septal defect and ventricular septal defect with patent ductus arteriosus, one Silver-Russell syndrome and one congenital adrenal hyperplasia. It was not possible to get the final information about outcome in 15 cases (20.3%). Conclusions: Children born to these mothers should be actively followed by a pediatrician or clinical geneticist for additional investigations after birth as they have a risk of 5.4% of having a congenital or genetic abnormality.

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Prospective experience with contingent screening strategy for Down syndrome in Estonia

Cited by 5 publications

References 18 publications

Two kinds of common prenatal screening tests for Down’s syndrome: a systematic review and meta-analysis

Two kinds of common prenatal screening tests for Down’s syndrome: a systematic review and meta-analysis

Antenatal Screening Strategies for Down Syndrome: Analysis of Existing Protocols and Implications in the Kingdom of Saudi Arabia

Outcome of Children with Marked Changes in Maternal Screening Tests and Normal Karyotype

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