Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.

This study evaluated prenatal screening test performance and the prevalence of common aneuploidies at Siriraj Hospital, Thailand. We collected data from screening tests which are first-trimester test, quadruple test, and noninvasive prenatal tests (NIPT) between January 2016 and December 2020. Thirt...

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Main Authors: Preechaya Wongkrajang, Jiraphun Jittikoon, Sermsiri Sangroongruangsri, Pattarawalai Talungchit, Pornpimol Ruangvutilert, Tachjaree Panchalee, Usa Chaikledkaew
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2023-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0284829
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author Preechaya Wongkrajang
Jiraphun Jittikoon
Sermsiri Sangroongruangsri
Pattarawalai Talungchit
Pornpimol Ruangvutilert
Tachjaree Panchalee
Usa Chaikledkaew
author_facet Preechaya Wongkrajang
Jiraphun Jittikoon
Sermsiri Sangroongruangsri
Pattarawalai Talungchit
Pornpimol Ruangvutilert
Tachjaree Panchalee
Usa Chaikledkaew
author_sort Preechaya Wongkrajang
collection DOAJ
description This study evaluated prenatal screening test performance and the prevalence of common aneuploidies at Siriraj Hospital, Thailand. We collected data from screening tests which are first-trimester test, quadruple test, and noninvasive prenatal tests (NIPT) between January 2016 and December 2020. Thirty percent (7,860/25,736) of pregnancies received prenatal screening tests for aneuploidies disorders, and 17.8% underwent prenatal diagnosis tests without screening. The highest percentage of screening tests was first-trimester test (64.5%). The high-risk results were 4% for first-trimester test, 6.6% for quadruple test, and 1.3% for NIPT. The serum screening tests for trisomy 13 and 18 had no true positives; therefore, we could not calculate sensitivity. For the first-trimester test, the sensitivity for trisomy 21 was 71.4% (95% confidence intervals (CI) 30.3-94.9); specificity for trisomy 13 and 18 was 99.9% (95% CI 99.8-99.9); and for trisomy 21 was 96.1% (95% CI 95.6-96.7). For the quadruple test, the specificity for trisomy 18 was 99.6% (95% CI 98.9-99.8), while the sensitivity and specificity for trisomy 21 were 50% (95% CI 26.7-97.3) and 93.9% (95% CI 92.2-95.3), respectively. NIPT had 100% sensitivity and specificity for trisomy 13, 18 and 21, and there were neither false negatives nor false positives. For pregnant women < 35 years, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.28 (95% CI 0.12-0.67), 0.28 (95% CI 0.12-0.67), and 0.89 (95% CI 0.54-1.45), respectively. For pregnant women ≥35 years, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.26 (95% CI 0.06-1.03), 2.59 (95% CI 1.67-4.01), and 7.25 (95% CI 5.58-9.41), respectively. For all pregnancies, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.27 (95% CI 0.13-0.57), 0.97 (95% CI 0.66-1.44), 2.80 (95% CI 2.22-3.52), respectively.
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spelling doaj.art-32c4f62838fb437a97ee56970cf7f3002023-05-10T05:31:53ZengPublic Library of Science (PLoS)PLoS ONE1932-62032023-01-01184e028482910.1371/journal.pone.0284829Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.Preechaya WongkrajangJiraphun JittikoonSermsiri SangroongruangsriPattarawalai TalungchitPornpimol RuangvutilertTachjaree PanchaleeUsa ChaikledkaewThis study evaluated prenatal screening test performance and the prevalence of common aneuploidies at Siriraj Hospital, Thailand. We collected data from screening tests which are first-trimester test, quadruple test, and noninvasive prenatal tests (NIPT) between January 2016 and December 2020. Thirty percent (7,860/25,736) of pregnancies received prenatal screening tests for aneuploidies disorders, and 17.8% underwent prenatal diagnosis tests without screening. The highest percentage of screening tests was first-trimester test (64.5%). The high-risk results were 4% for first-trimester test, 6.6% for quadruple test, and 1.3% for NIPT. The serum screening tests for trisomy 13 and 18 had no true positives; therefore, we could not calculate sensitivity. For the first-trimester test, the sensitivity for trisomy 21 was 71.4% (95% confidence intervals (CI) 30.3-94.9); specificity for trisomy 13 and 18 was 99.9% (95% CI 99.8-99.9); and for trisomy 21 was 96.1% (95% CI 95.6-96.7). For the quadruple test, the specificity for trisomy 18 was 99.6% (95% CI 98.9-99.8), while the sensitivity and specificity for trisomy 21 were 50% (95% CI 26.7-97.3) and 93.9% (95% CI 92.2-95.3), respectively. NIPT had 100% sensitivity and specificity for trisomy 13, 18 and 21, and there were neither false negatives nor false positives. For pregnant women < 35 years, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.28 (95% CI 0.12-0.67), 0.28 (95% CI 0.12-0.67), and 0.89 (95% CI 0.54-1.45), respectively. For pregnant women ≥35 years, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.26 (95% CI 0.06-1.03), 2.59 (95% CI 1.67-4.01), and 7.25 (95% CI 5.58-9.41), respectively. For all pregnancies, the prevalence of trisomy 13, 18, and 21 per 1,000 births was 0.27 (95% CI 0.13-0.57), 0.97 (95% CI 0.66-1.44), 2.80 (95% CI 2.22-3.52), respectively.https://doi.org/10.1371/journal.pone.0284829
spellingShingle Preechaya Wongkrajang
Jiraphun Jittikoon
Sermsiri Sangroongruangsri
Pattarawalai Talungchit
Pornpimol Ruangvutilert
Tachjaree Panchalee
Usa Chaikledkaew
Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.
PLoS ONE
title Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.
title_full Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.
title_fullStr Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.
title_full_unstemmed Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.
title_short Prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in Thailand.
title_sort prenatal screening tests and prevalence of fetal aneuploidies in a tertiary hospital in thailand
url https://doi.org/10.1371/journal.pone.0284829
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