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Prenatal Diagnosis of Congenital Heart Diseases and Associations with Serum Biomarkers of Aneuploidy: A Multicenter Prospective Cohort Studyopen access

Authors
Ha Wie, JeongHan, You JungKim, Soo HyunKim, Moon YoungCho, Hee YoungLee, Mi-YoungChung, Jin HoonLee, Seung MiOh, Soo -youngLee, Joon HoBoo, Hye YeonCho, Geum JoonKwon, Han -SungKim, Byoung JaePark, Mi HyeRyu, Hyun MeeKo, Hyun Sun
Issue Date
8월-2022
Publisher
YONSEI UNIV COLL MEDICINE
Keywords
Congenital heart disease; prenatal diagnosis ultrasonic; second-trimester screening; pregnancy-associated plasma protein-A; inhibin A
Citation
YONSEI MEDICAL JOURNAL, v.63, no.8, pp.735 - 743
Indexed
SCIE
SCOPUS
KCI
Journal Title
YONSEI MEDICAL JOURNAL
Volume
63
Number
8
Start Page
735
End Page
743
URI
https://scholar.korea.ac.kr/handle/2021.sw.korea/143333
DOI
10.3349/ymj.2022.63.8.735
ISSN
0513-5796
Abstract
Purpose: We assessed prenatal detection rates of congenital heart disease (CHD) and associations between maternal serum bio-markers 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 co-hort 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 sep-tal 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 im-provement in prenatal diagnosis of CHDs.
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