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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 
 YONSEI MEDICAL JOURNAL, Vol.63(8) : 735-743, 2022-08 
Journal Title
Issue Date
Aneuploidy ; Biomarkers ; Female ; Heart Defects, Congenital* / diagnostic imaging ; Heart Defects, Congenital* / genetics ; Humans ; Infant, Newborn ; Inhibins ; Pregnancy ; Pregnancy-Associated Plasma Protein-A* / analysis ; Prenatal Diagnosis / methods ; Prospective Studies ; Ultrasonography, Prenatal
Congenital heart disease ; inhibin A ; pregnancy-associated plasma protein-A ; prenatal diagnosis ultrasonic ; second-trimester screening
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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1. College of Medicine (의과대학) > Dept. of Obstetrics and Gynecology (산부인과학교실) > 1. Journal Papers
Yonsei Authors
Lee, Joon Ho(이준호)
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