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

Jeong Ha Wie, You Jung Han, Soo Hyun Kim, Moon Young Kim, Hee Young Cho, Mi Young Lee, Jin Hoon Chung, Seung Mi Lee, Soo Young Oh, Joon Ho Lee, Hye Yeon Boo, Geum Joon Cho, Han Sung Kwon, Byoung Jae Kim, Mi Hye Park, Hyun Mee Ryu, Hyun Sun Ko

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


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 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 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.

Original languageEnglish
Pages (from-to)735-743
Number of pages9
JournalYonsei Medical Journal
Issue number8
StatePublished - Aug 2022

Bibliographical note

Funding Information:
We thank pregnant women who participated in the KPDS study, funded by the Ministry of Health & Welfare, Republic of Korea (grant number: HC15C1336).

Publisher Copyright:
© Yonsei University College of Medicine 2022.


  • inhibin A
  • pregnancy-associated plasma protein-A
  • prenatal diagnosis ultrasonic
  • second-trimester screening
  • ‌Congenital heart disease


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