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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...

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Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Yonsei University College of Medicine 2022
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.
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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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