Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method

Durkovic, Jasmina; Ubavić, M; Durković, Milica; Kis, Tibor

doi:10.1515/jomb-2017-0022

Cited by 10 publications

(5 citation statements)

References 29 publications

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“…7 Prenatal screening for Down syndrome is done in the first trimester between 11 weeks and 14 weeks by ultrasound measurement of nuchal translucency (NT) and the pregnancy associated plasma protein-A (PAPP-A) and free human chorionic gonadotropin (free-beta HCG) biomarkers in maternal serum. 11 The families at risk are mostly identified after birth of affected child, but many genetic disorders occur in families, even without any previous history of affected child.…”

Section: Discussionmentioning

confidence: 99%

Dental Anomalies in Down Syndrome Individuals: A Review

Desingu¹,

Adapa²,

Devi³

2019

Journal of Scientific Dentistry

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Background and aim: Down syndrome, also denominated as trisomy 21, is a genetic alteration in which the affected individual carries an extra chromosome 21. Down syndrome patients have specific orofacial features such as mouth breathing, open bite, macroglossia, hypodontia, microdontia, anodontia, fissured tongue, malocclusion, low level of dental caries, poor oral hygiene, delayed eruption, small maxilla, retained deciduous teeth. The present review is aimed to evaluate the prevalence of dental anomalies in Down syndrome individuals. Materials and methods: The primary focus of the search was review articles, case report and observational studies explaining the common dental anomalies affecting Down syndrome individuals. Results: One review article, two case reports and twelve observational studies were included to this review. Prevalence of overall dental anomalies in Down syndrome individuals is about 50.47-95.52% and individual percentage of dental anomalies, taurodontism 9.52-85.71%; anodontia 34.69%; delayed eruption 2.04%; conic teeth 14.28%; microdontia 2.04-16.19%; fusion 2.04%; hypodontia 16.19-62%; fissured tongue 78%; retained teeth 10.17%; and teeth agenesis 30-81% were noticed in Down syndrome individuals. Conclusion: Individuals with Down syndrome exhibit high prevalence of dental anomalies compared to normal individuals. The most prevalent dental anomalies among these individuals were taurodontism, anodontia, hypodontia, fissured tongue and teeth agenesis. These outcomes reinforce that dental care should be directed to prevent and/or control problems and to improve oral hygiene status of Down syndrome individuals.

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Section: Discussionmentioning

confidence: 99%

Dental Anomalies in Down Syndrome Individuals: A Review

Desingu¹,

Adapa²,

Devi³

2019

Journal of Scientific Dentistry

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“…The calculated risks of Down's syndrome and Trisomy 13/18 were determined using the software program based on the gestational age at the time of amniocentesis, maternal age, and the levels of biochemical markers. The performance of each biomarker in detecting chromosomal abnormalities was assessed by calculating the sensitivity, speci city, positive predictive value (PPV), and negative predictive value (NPV) (7).…”

Section: Methodsmentioning

confidence: 99%

Inhibin-A as a Useful Biomarker for Detecting Chromosomal Abnormalities in Prenatal Screening Programs

Momeni

2023

Preprint

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Objective To investigate the accuracy of various biochemical markers, including inhibin-A, in detecting chromosomal abnormalities in fetuses. Methods This retrospective study included 52 pregnant women who underwent amniocentesis due to abnormal results on prenatal screening tests. The study measured the levels of inhibin-A, alpha-fetoprotein (AFP), unconjugated estriol (uE3), and beta-human chorionic gonadotropin (beta-hCG) in maternal serum. Results Inhibin-A was the only biomarker that showed a significant difference in mean value between the groups with normal and abnormal amniocentesis results. Specifically, inhibin-A had a significantly higher mean value in the group with abnormal results compared to the group with normal results. Inhibin-A also had the highest sensitivity and positive predictive value among all the biomarkers studied. The combined first-trimester screening test using nuchal translucency, pregnancy-associated plasma protein-A, and free beta-hCG had the highest specificity and negative predictive value. Conclusion The results of this study suggest that inhibin-A is a useful biomarker for detecting chromosomal abnormalities in fetuses, with a high sensitivity and positive predictive value. The findings may have important implications for prenatal screening programs, although further research is needed to confirm the usefulness of inhibin-A and other biomarkers in screening for chromosomal abnormalities.

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“…Only 19% of the Saudi population believes accurately that Down syndrome can be diagnosed through an ultrasound and blood test (Alhaddad et al, 2018). Down syndrome can be detected prenatally in multiple ways (Alkhteeb, 2010;Alrousan, 2018); fetal nuchal translucency and maternal serum PAPP-A and free-beta HCG indicators may be used in the first trimester to screen for chromosomopathy (Durković et al, 2018). Thus, Down syndrome can be detected prenatally through a maternal ultrasound, blood test, and amniotic fluid examination (Alkhteeb, 2010;Alrousan, 2018).…”

Section: General Informationmentioning

confidence: 99%

The Stereotypical Image of People with Down Syndrome from the Viewpoint of Female Special Education Students at Mu’tah University

AlTarawneh,

Etawi

2023

JESR

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This study sought the perspective of female special education students at Mu’tah University to determine the stereotypical image of people with Down syndrome. To achieve the aims of this study, a scale testing the stereotypical image of people with Down syndrome was administered to a random sample of 120 female special education students. The results indicated that female special education students harbored a neutral stereotypical image of people with Down syndrome. In terms of the academic year, statistically significant differences favoring third- and fourth-year students were observed in the dimension of health-related problems. No differences were noted in the general stereotyping of people with Down syndrome between the academic years, students taking a course on intellectual disability, and respondents with previous experience in dealing with people with Down syndrome. Received: 21 May 2023 / Accepted: 10 August 2023 / Published: 5 September 2023

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Prenatal Screening Markers for Down Syndrome: Sensitivity, Specificity, Positive and Negative Expected Value Method

Cited by 10 publications

References 29 publications

Dental Anomalies in Down Syndrome Individuals: A Review

Dental Anomalies in Down Syndrome Individuals: A Review

Inhibin-A as a Useful Biomarker for Detecting Chromosomal Abnormalities in Prenatal Screening Programs

The Stereotypical Image of People with Down Syndrome from the Viewpoint of Female Special Education Students at Mu’tah University

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