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Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience

BACKGROUND & OBJECTIVES: Down syndrome (DS) is one of the most common causes of developmental delay. In India, there is no protocol for prenatal screening of DS. Second-trimester biochemical screening is still being done by triple test. Quadruple test is with better sensitivity and specificity b...

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Autores principales: Sablok, Aanchal, Sharma, Akshatha, Ahmed, Chanchal Singh, Kaul, Anita
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210531/
https://www.ncbi.nlm.nih.gov/pubmed/35417990
http://dx.doi.org/10.4103/ijmr.IJMR_1034_19
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author Sablok, Aanchal
Sharma, Akshatha
Ahmed, Chanchal Singh
Kaul, Anita
author_facet Sablok, Aanchal
Sharma, Akshatha
Ahmed, Chanchal Singh
Kaul, Anita
author_sort Sablok, Aanchal
collection PubMed
description BACKGROUND & OBJECTIVES: Down syndrome (DS) is one of the most common causes of developmental delay. In India, there is no protocol for prenatal screening of DS. Second-trimester biochemical screening is still being done by triple test. Quadruple test is with better sensitivity and specificity but is not advised routinely. So, the objective of this study was to evaluate the sensitivity and accuracy of the second-trimester screening (quadruple test with genetic sonogram) for trisomy 21 as compared to biochemical testing. METHODS: This retrospective observational study was carried out in a Fetal Medicine Centre to analyze the odds of being affected with DS, given a positive risk (OAPR) upon screening in the quadruple test; triple test and quadruple test plus a genetic sonogram for high-risk singleton pregnancies (in view of advanced maternal age; an anomaly scan showing some abnormality, etc). RESULTS: 3175 high-risk singleton pregnancies were screened for trisomy 21. 394 women underwent amniocentesis on the basis of triple test, quadruple test or quadruple plus genetic sonogram positive. 17 foetuses were diagnosed to have DS. The quadruple test was found to have a higher OAPR as compared to the triple test (1:30.1 as compared to 1: 40.2). Quadruple test plus the genetic sonogram was found to have the highest OAPR of 1:6. INTERPRETATION & CONCLUSIONS: Best screening for trisomy 21 is provided with quadruple test with genetic sonogram which can lower the rates of unnecessary amniocentesis in high-risk population.
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spelling pubmed-92105312022-06-22 Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience Sablok, Aanchal Sharma, Akshatha Ahmed, Chanchal Singh Kaul, Anita Indian J Med Res Original Article BACKGROUND & OBJECTIVES: Down syndrome (DS) is one of the most common causes of developmental delay. In India, there is no protocol for prenatal screening of DS. Second-trimester biochemical screening is still being done by triple test. Quadruple test is with better sensitivity and specificity but is not advised routinely. So, the objective of this study was to evaluate the sensitivity and accuracy of the second-trimester screening (quadruple test with genetic sonogram) for trisomy 21 as compared to biochemical testing. METHODS: This retrospective observational study was carried out in a Fetal Medicine Centre to analyze the odds of being affected with DS, given a positive risk (OAPR) upon screening in the quadruple test; triple test and quadruple test plus a genetic sonogram for high-risk singleton pregnancies (in view of advanced maternal age; an anomaly scan showing some abnormality, etc). RESULTS: 3175 high-risk singleton pregnancies were screened for trisomy 21. 394 women underwent amniocentesis on the basis of triple test, quadruple test or quadruple plus genetic sonogram positive. 17 foetuses were diagnosed to have DS. The quadruple test was found to have a higher OAPR as compared to the triple test (1:30.1 as compared to 1: 40.2). Quadruple test plus the genetic sonogram was found to have the highest OAPR of 1:6. INTERPRETATION & CONCLUSIONS: Best screening for trisomy 21 is provided with quadruple test with genetic sonogram which can lower the rates of unnecessary amniocentesis in high-risk population. Wolters Kluwer - Medknow 2021-11 /pmc/articles/PMC9210531/ /pubmed/35417990 http://dx.doi.org/10.4103/ijmr.IJMR_1034_19 Text en Copyright: © 2022 Indian Journal of Medical Research https://creativecommons.org/licenses/by-nc-sa/4.0/This is an open access journal, and articles are distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as appropriate credit is given and the new creations are licensed under the identical terms.
spellingShingle Original Article
Sablok, Aanchal
Sharma, Akshatha
Ahmed, Chanchal Singh
Kaul, Anita
Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience
title Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience
title_full Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience
title_fullStr Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience
title_full_unstemmed Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience
title_short Performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: An Indian experience
title_sort performance of second-trimester maternal biochemistry screening (quadruple test vs. triple test) for trisomy 21: an indian experience
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9210531/
https://www.ncbi.nlm.nih.gov/pubmed/35417990
http://dx.doi.org/10.4103/ijmr.IJMR_1034_19
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