Cargando…

Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population

BACKGROUND: To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound....

Descripción completa

Detalles Bibliográficos
Autores principales: Pranpanus, Savitree, Keatkongkaew, Kanokkarn, Suksai, Manaphat
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751369/
https://www.ncbi.nlm.nih.gov/pubmed/35016623
http://dx.doi.org/10.1186/s12884-021-04332-0
_version_ 1784631664596484096
author Pranpanus, Savitree
Keatkongkaew, Kanokkarn
Suksai, Manaphat
author_facet Pranpanus, Savitree
Keatkongkaew, Kanokkarn
Suksai, Manaphat
author_sort Pranpanus, Savitree
collection PubMed
description BACKGROUND: To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound. METHODS: A prospective study was done in Thai pregnant women at high risk for structural and chromosomal abnormalities between May 2018 and May 2019. The main exclusion criteria were any fetal anatomical anomaly detected on ultrasonography or postpartum examination, abnormal chromosome or syndrome other than Down syndrome. Ultrasounds were performed in 375 pregnant women at 14 to 22 weeks’ gestation and the fetal facial parameters were analyzed. Down syndrome results were confirmed by karyotyping. The reference ranges of these facial ultrasound markers were constructed based on the data of our population. The Down syndrome screening performance using these facial ultrasound markers was evaluated. RESULTS: In total, 340 euploid fetuses and 11 fetuses with Down syndrome met the inclusion criteria. The PT, NBL, and PT/NBL ratios in the euploid fetuses gradually increased with gestation progression while the NBL/PT ratio gradually decreased between 14–22 weeks’ gestation. The NBL, PT/NBL ratio, and NBL/PT ratio all had 100% sensitivity and PT had 91% sensitivity. These facial markers had 100% negative predictive value for Down syndrome screening in the second trimester. The Bland–Altman analysis showed the intra- and inter-observer variations of PT and NBL had high intraclass correlation coefficients (ICC) in both operators, with ICCs of 0.98 and 0.99 and inter-observer ICCs of 0.99 for both operators. CONCLUSION: The facial ultrasound markers are very useful for second trimester Down syndrome screening in our population. These facial ultrasound markers were easily identifiable and highly consistent either intra- or inter-operator by using widely-available 2D ultrasound. However, the reference ranges for these markers need to be constructed based on individual populations. TRIAL REGISTRATION: Registration number: REC 61–029-12–3. Date of registration: 18 May 2018.
format Online
Article
Text
id pubmed-8751369
institution National Center for Biotechnology Information
language English
publishDate 2022
publisher BioMed Central
record_format MEDLINE/PubMed
spelling pubmed-87513692022-01-12 Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population Pranpanus, Savitree Keatkongkaew, Kanokkarn Suksai, Manaphat BMC Pregnancy Childbirth Research BACKGROUND: To establish the reference ranges and evaluate the efficacy of the fetal facial sonomarkers prenasal thickness (PT), nasal bone length (NBL), PT/NBL ratio and NBL/PT ratio for Down syndrome screening in the second trimester of high-risk pregnancies using two-dimensional (2D) ultrasound. METHODS: A prospective study was done in Thai pregnant women at high risk for structural and chromosomal abnormalities between May 2018 and May 2019. The main exclusion criteria were any fetal anatomical anomaly detected on ultrasonography or postpartum examination, abnormal chromosome or syndrome other than Down syndrome. Ultrasounds were performed in 375 pregnant women at 14 to 22 weeks’ gestation and the fetal facial parameters were analyzed. Down syndrome results were confirmed by karyotyping. The reference ranges of these facial ultrasound markers were constructed based on the data of our population. The Down syndrome screening performance using these facial ultrasound markers was evaluated. RESULTS: In total, 340 euploid fetuses and 11 fetuses with Down syndrome met the inclusion criteria. The PT, NBL, and PT/NBL ratios in the euploid fetuses gradually increased with gestation progression while the NBL/PT ratio gradually decreased between 14–22 weeks’ gestation. The NBL, PT/NBL ratio, and NBL/PT ratio all had 100% sensitivity and PT had 91% sensitivity. These facial markers had 100% negative predictive value for Down syndrome screening in the second trimester. The Bland–Altman analysis showed the intra- and inter-observer variations of PT and NBL had high intraclass correlation coefficients (ICC) in both operators, with ICCs of 0.98 and 0.99 and inter-observer ICCs of 0.99 for both operators. CONCLUSION: The facial ultrasound markers are very useful for second trimester Down syndrome screening in our population. These facial ultrasound markers were easily identifiable and highly consistent either intra- or inter-operator by using widely-available 2D ultrasound. However, the reference ranges for these markers need to be constructed based on individual populations. TRIAL REGISTRATION: Registration number: REC 61–029-12–3. Date of registration: 18 May 2018. BioMed Central 2022-01-11 /pmc/articles/PMC8751369/ /pubmed/35016623 http://dx.doi.org/10.1186/s12884-021-04332-0 Text en © The Author(s) 2022 https://creativecommons.org/licenses/by/4.0/Open AccessThis article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) . The Creative Commons Public Domain Dedication waiver (http://creativecommons.org/publicdomain/zero/1.0/ (https://creativecommons.org/publicdomain/zero/1.0/) ) applies to the data made available in this article, unless otherwise stated in a credit line to the data.
spellingShingle Research
Pranpanus, Savitree
Keatkongkaew, Kanokkarn
Suksai, Manaphat
Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population
title Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population
title_full Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population
title_fullStr Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population
title_full_unstemmed Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population
title_short Utility of fetal facial markers on a second trimester genetic sonogram in screening for Down syndrome in a high-risk Thai population
title_sort utility of fetal facial markers on a second trimester genetic sonogram in screening for down syndrome in a high-risk thai population
topic Research
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8751369/
https://www.ncbi.nlm.nih.gov/pubmed/35016623
http://dx.doi.org/10.1186/s12884-021-04332-0
work_keys_str_mv AT pranpanussavitree utilityoffetalfacialmarkersonasecondtrimestergeneticsonograminscreeningfordownsyndromeinahighriskthaipopulation
AT keatkongkaewkanokkarn utilityoffetalfacialmarkersonasecondtrimestergeneticsonograminscreeningfordownsyndromeinahighriskthaipopulation
AT suksaimanaphat utilityoffetalfacialmarkersonasecondtrimestergeneticsonograminscreeningfordownsyndromeinahighriskthaipopulation