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Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study
PURPOSE: We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies. MATERIALS AND METHODS: This study was conducted as a secondary analysis of data obtained during a multicenter prospecti...
Autores principales: | , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Yonsei University College of Medicine
2022
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344277/ https://www.ncbi.nlm.nih.gov/pubmed/35914755 http://dx.doi.org/10.3349/ymj.2022.63.8.735 |
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author | Wie, Jeong Ha Han, You Jung Kim, Soo Hyun Kim, Moon Young Cho, Hee Young Lee, Mi-Young Chung, Jin Hoon Lee, Seung Mi Oh, Soo-young Lee, Joon Ho Boo, Hye Yeon Cho, Geum Joon Kwon, Han-Sung Kim, Byoung Jae Park, Mi Hye Ryu, Hyun Mee Ko, Hyun Sun |
author_facet | Wie, Jeong Ha Han, You Jung Kim, Soo Hyun Kim, Moon Young Cho, Hee Young Lee, Mi-Young Chung, Jin Hoon Lee, Seung Mi Oh, Soo-young Lee, Joon Ho Boo, Hye Yeon Cho, Geum Joon Kwon, Han-Sung Kim, Byoung Jae Park, Mi Hye Ryu, Hyun Mee Ko, Hyun Sun |
author_sort | Wie, Jeong Ha |
collection | PubMed |
description | PURPOSE: We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies. MATERIALS AND METHODS: This study was conducted as a secondary analysis of data obtained during a multicenter prospective cohort study that investigated the cost-effectiveness of prenatal testing for fetal aneuploidy. We analyzed the prenatal detection rate and accuracy for CHD screening via ultrasound during the second trimester, as well as associations between serum biomarkers and CHDs, in singleton newborns without chromosomal abnormalities. RESULTS: Among 6715 women, 142 (2.1%) newborns were born with CHDs, of which 67 (1.0%) newborns had major CHDs. The prenatal detection rate for all CHDs and major CHDs were 34.5% and 58.2%, respectively. After excluding isolated ventricular septal defects, the detection rate for critical CHDs was 85.9%. Women with low pregnancy-associated plasma protein A (PAPP-A) (<0.4 multiples of the median, MOM) face increased risks of non-chromosomal CHDs [adjusted odds ratio (aOR) 2.76; 95% confidence interval (CI) 1.36–5.13] and major CHDs (aOR 7.30; 95% CI 3.18–15.59), compared to those without CHDs. A higher inhibin A level (≥2.5 MOM; aOR 4.84; 95% CI 1.42–12.46) was associated with non-chromosomal major CHDs. CONCLUSION: Ultrasonography performed during the second trimester by obstetricians detected over 85% of critical CHDs. Low maternal serum PAPP-A or high inhibin-A was associated with non-chromosomal CHDs. These results may contribute to an improvement in prenatal diagnosis of CHDs. |
format | Online Article Text |
id | pubmed-9344277 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2022 |
publisher | Yonsei University College of Medicine |
record_format | MEDLINE/PubMed |
spelling | pubmed-93442772022-08-03 Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study Wie, Jeong Ha Han, You Jung Kim, Soo Hyun Kim, Moon Young Cho, Hee Young Lee, Mi-Young Chung, Jin Hoon Lee, Seung Mi Oh, Soo-young Lee, Joon Ho Boo, Hye Yeon Cho, Geum Joon Kwon, Han-Sung Kim, Byoung Jae Park, Mi Hye Ryu, Hyun Mee Ko, Hyun Sun Yonsei Med J Original Article PURPOSE: We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum biomarkers and non-chromosomal CHD in singleton pregnancies. MATERIALS AND METHODS: This study was conducted as a secondary analysis of data obtained during a multicenter prospective cohort study that investigated the cost-effectiveness of prenatal testing for fetal aneuploidy. We analyzed the prenatal detection rate and accuracy for CHD screening via ultrasound during the second trimester, as well as associations between serum biomarkers and CHDs, in singleton newborns without chromosomal abnormalities. RESULTS: Among 6715 women, 142 (2.1%) newborns were born with CHDs, of which 67 (1.0%) newborns had major CHDs. The prenatal detection rate for all CHDs and major CHDs were 34.5% and 58.2%, respectively. After excluding isolated ventricular septal defects, the detection rate for critical CHDs was 85.9%. Women with low pregnancy-associated plasma protein A (PAPP-A) (<0.4 multiples of the median, MOM) face increased risks of non-chromosomal CHDs [adjusted odds ratio (aOR) 2.76; 95% confidence interval (CI) 1.36–5.13] and major CHDs (aOR 7.30; 95% CI 3.18–15.59), compared to those without CHDs. A higher inhibin A level (≥2.5 MOM; aOR 4.84; 95% CI 1.42–12.46) was associated with non-chromosomal major CHDs. CONCLUSION: Ultrasonography performed during the second trimester by obstetricians detected over 85% of critical CHDs. Low maternal serum PAPP-A or high inhibin-A was associated with non-chromosomal CHDs. These results may contribute to an improvement in prenatal diagnosis of CHDs. Yonsei University College of Medicine 2022-08 2022-07-19 /pmc/articles/PMC9344277/ /pubmed/35914755 http://dx.doi.org/10.3349/ymj.2022.63.8.735 Text en © Copyright: Yonsei University College of Medicine 2022 https://creativecommons.org/licenses/by-nc/4.0/This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (https://creativecommons.org/licenses/by-nc/4.0 (https://creativecommons.org/licenses/by-nc/4.0/) ) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited. |
spellingShingle | Original Article Wie, Jeong Ha Han, You Jung Kim, Soo Hyun Kim, Moon Young Cho, Hee Young Lee, Mi-Young Chung, Jin Hoon Lee, Seung Mi Oh, Soo-young Lee, Joon Ho Boo, Hye Yeon Cho, Geum Joon Kwon, Han-Sung Kim, Byoung Jae Park, Mi Hye Ryu, Hyun Mee Ko, Hyun Sun Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study |
title | Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study |
title_full | Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study |
title_fullStr | Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study |
title_full_unstemmed | Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study |
title_short | Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Study |
title_sort | prenatal diagnosis of congenital heart diseases and associations with serum biomarkers of aneuploidy: a multicenter prospective cohort study |
topic | Original Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344277/ https://www.ncbi.nlm.nih.gov/pubmed/35914755 http://dx.doi.org/10.3349/ymj.2022.63.8.735 |
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