A prospective cohort study on association of first-trimester serum biomarkers and risk of isolated foetal congenital heart defects

  1. Chronic Diseases Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  2. The Persian Gulf Tropical Medicine Research Center, Bushehr University of Medical Sciences, Bushehr, Iran.
  3. Elderly Health Research Center, Endocrinology and Metabolism Population Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  4. Diabetes Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  5. Endocrinology and Metabolism Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  6. Osteoporosis Research Center, Endocrinology and Metabolism Clinical Sciences Institute, Tehran University of Medical Sciences, Tehran, Iran.
  7. The Persian Gulf Marine Biotechnology Research Center, The Persian Gulf Biomedical Sciences Research Institute, Bushehr University of Medical Sciences, Bushehr, Iran.

Abstract

Background: This study aims to assess the association between first-trimester biomarkers in foetuses with a non-chromosomal congenital heart defect (CHD) and compares it to the matched healthy foetuses.

Method: Nuchal Translucency (NT), Pregnancy-Associated Plasma Protein-A (PAPP-A) and free beta-human Chorionic Gonadotropin (β-hCG) were evaluated in 56 isolated foetal heart defects and 224 controls. The CHDs were further divided into Critical CHD (C-CHD) and Non-critical CHD (N-CHD) groups.

Results: The multiple of the median (MoM) values for PAPP-A were significantly lower (0.87 MoM vs. 0.92 MoM; p = 0.008) in the total CHD group than in controls. The median of foetal NT values was significantly higher in the total CHDs than in controls (1.16 MoM vs. 1.03 MoM; p < 0.001), especially for C-CHDs (1.28 MoM; P < 0.001). There were no significant differences in terms of PAPP-A (p = 0.779) and foetal NT values (p = 0.760) between the N-CHDs and control groups. There were no significant differences within the groups based on free β-hCG, except for a lower β-hCG in C-CHD group than in the control group (0.95 MoM vs. 1.11 MoM; p = 0.022).

Conclusion: Lower PAPP-A levels and increased NT thickness were associated with an increased risk of CHDs, especially the critical type of CHDs.Clinical significanceMaternal serum PAPP-A, measured in the first trimester, is significantly lower in CHD.Foetal NT is significantly thicker in foetuses with CHD, especially those with critical CHD.Maternal serum β-hCG was only decreased among critical CHD group.

Keywords: Congenital heart defect; first-trimester screening; free beta-human chorionic gonadotropin; pregnancy-associated plasma protein-A.

How to Cite

Hematian MN, Hessami K, Torabi S, Saleh M, Nouri B, Saleh M. A prospective cohort study on association of first-trimester serum biomarkers and risk of isolated foetal congenital heart defects. Biomarkers. 2021 Dec;26(8):747-751. doi: 10.1080/1354750X.2021.1994011. Epub 2021 Oct 27. PMID: 34645361.