Download PDF
J Pediatr Genet
DOI: 10.1055/s-0043-1774292
Original Article

Maternal Blood Group Is a Possible Predictor for Developing Congenital Heart Disease in Turkish Children with Down's Syndrome

Yasar Kandur
1   Department of Pediatrics, School of Medicine, Kirikkale University, Kirikkale, Türkiye
,
Derya Beyza Sayın Kocakap
2   Department of Medical Genetics, School of Medicine, Kirikkale University, Kirikkale, Türkiye
,
Aysegul Alpcan
1   Department of Pediatrics, School of Medicine, Kirikkale University, Kirikkale, Türkiye
,
Cihat Sanlı
3   Department of Pediatric Cardiology, School of Medicine, Kirikkale University, Kirikkale, Türkiye
,
Cemile Dayangan Sayan
4   Department of Obstetrics, Gynaecology and Women's Health, School of Medicine, Kirikkale University, Kirikkale, Türkiye
,
Ömer Lütfi Koyuncu
1   Department of Pediatrics, School of Medicine, Kirikkale University, Kirikkale, Türkiye
› Author Affiliations Funding None.
› Further Information
    Permissions and Reprints

Abstract

We aimed to evaluate the clinical characteristics and the risk factors for the anomalies of Down's syndrome (DS) patients and reviewed the relation of blood groups of the patients and the mothers with these anomalies. Pediatric patients who were diagnosed with trisomy 21 between 2010 and 2022 were enrolled in this study. The medical records of the DS patients and their parents were retrospectively reviewed. A total of 48 patients applied to our clinic. 24 (50%) patients were diagnosed with congenital heart disease. 21 (43.75%) patients had hypothyroidism. The distribution of individual congenital heart defects (CHDs) was as follows: ventricular septal defect in eight (33.3%) patients, one of which also had patent ductus arteriosus (PDA); atrioventricular septal defects in seven (29.1%) patients; atrial septal defects in four (16.6%) patients, one of which also had patent ducus arteriosus; and PDA in five (20.8%) patients. One (4.2%) patient had tetralogy of Fallot. The incidence of CHD in patients with maternal blood group A was significantly higher than those without CHD, with a prevalence of 63.6 and 21.1%, respectively (p = 0.020). Binary logistic regression analysis showed that maternal blood group A was a risk factor for CHDs (odds ratio = 6.563; 95% confidence interval: 1.259–34.204; p = 0.025). Although we found that the rate of advanced father age was high in hypothyroidism type, the regression analysis showed that it was not a risk factor. We found that maternal blood group A increased the likelihood of being born with CHDs in DS.

Keywords

Down's syndrome - congenital heart defects - hypothyroidism - maternal blood group A

Ethics Statement

The ethics committee approval of the study was obtained from the Kirikkale University Clinical Research Ethics Committee (date: October 19, 2022 / Decision no:2022.10.05).


Authors' Contribution

All authors contributed to the study conception and design. Material preparation, data collection, and analysis were performed by all authors. The first draft of the manuscript was written by Y.K., and all authors commented on previous versions of the manuscript. All authors read and approved the final manuscript.




Publication History

Received: 03 January 2023

Accepted: 07 August 2023

Article published online:
06 September 2023

© 2023. Thieme. All rights reserved.

Georg Thieme Verlag KG
Rüdigerstraße 14, 70469 Stuttgart, Germany

 

  • References

  • 1 Asim A, Kumar A, Muthuswamy S, Jain S, Agarwal S. “Down syndrome: an insight of the disease”. J Biomed Sci 2015; 22 (01) 41
    CrossrefPubMedGoogle Scholar
  • 2 Bergström S, Carr H, Petersson G. et al. Trends in congenital heart defects in infants with Down syndrome. Pediatrics 2016; 138 (01) e20160123
    CrossrefPubMedGoogle Scholar
  • 3 Bull MJ. Committee on Genetics. Health supervision for children with Down syndrome. Pediatrics 2011; 128 (02) 393-406
    CrossrefPubMedGoogle Scholar
  • 4 Leonard S, Bower C, Petterson B, Leonard H. Survival of infants born with Down's syndrome: 1980-96. Paediatr Perinat Epidemiol 2000; 14 (02) 163-171
    CrossrefPubMedGoogle Scholar
  • 5 Freeman SB, Taft LF, Dooley KJ. et al. Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 1998; 80 (03) 213-217
    CrossrefPubMedGoogle Scholar
  • 6 Prasher VP. Down syndrome and thyroid disorders: a review. Downs Syndr Res Pract 1999; 6 (01) 25-42
    CrossrefPubMedGoogle Scholar
  • 7 Hardy O, Worley G, Lee MM. et al. Hypothyroidism in Down syndrome: screening guidelines and testing methodology. Am J Med Genet A 2004; 124A (04) 436-437
    CrossrefPubMedGoogle Scholar
  • 8 Nussbaum RL, McInnes RR, Willard HF. Thompson and Thompson Genetics in Medicine. 7th ed.. Philadelphia, PA: Saunders/Elsevier; 2007
    Google Scholar
  • 9 Zaidi S, Brueckner M. Genetics and genomics of congenital heart disease. Circ Res 2017; 120 (06) 923-940
    CrossrefPubMedGoogle Scholar
  • 10 Lim TB, Foo SYR, Chen CK. The role of epigenetics in congenital heart disease. Genes (Basel) 2021; 12 (03) 390
    CrossrefPubMedGoogle Scholar
  • 11 Benhaourech S, Drighil A, Hammiri AE. Congenital heart disease and Down syndrome: various aspects of a confirmed association. Cardiovasc J S Afr 2016; 27 (05) 287-290
    CrossrefPubMedGoogle Scholar
  • 12 Brendemoen OJ. ABO blood-groups in patients with septal defects. Lancet 1969; 2 (7630): 1140 . Available at: https://pubmed.ncbi.nlm.nih.gov/4188082/
    CrossrefPubMedGoogle Scholar
  • 13 Samadi A. Mental Disability, Evaluation, Diagnosis and Intervention. Tehran, IR: Danesh Publication; 2009
    Google Scholar
  • 14 Yakut S, Cetin Z, Clark OA, Usta MF, Berker S, Luleci G. Exceptional complex chromosomal rearrangement and microdeletions at the 4q22.3q23 and 14q31.1q31.3 regions in a patient with azoospermia. Gene 2013; 512 (01) 157-160
    CrossrefPubMedGoogle Scholar
  • 15 van der Linde D, Konings EEM, Slager MA. et al. Birth prevalence of congenital heart disease worldwide: a systematic review and meta-analysis. J Am Coll Cardiol 2011; 58 (21) 2241-2247
    CrossrefPubMedGoogle Scholar
  • 16 Frid C, Drott P, Lundell B, Rasmussen F, Annerén G. Mortality in Down's syndrome in relation to congenital malformations. J Intellect Disabil Res 1999; 43 (Pt 3): 234-241
    CrossrefPubMedGoogle Scholar
  • 17 Bean LJ, Allen EG, Tinker SW. et al. Lack of maternal folic acid supplementation is associated with heart defects in Down syndrome: a report from the National Down Syndrome Project. Birth Defects Res A Clin Mol Teratol 2011; 91 (10) 885-893
    CrossrefPubMedGoogle Scholar
  • 18 Freeman SB, Bean LH, Allen EG. et al. Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med 2008; 10 (03) 173-180
    CrossrefPubMedGoogle Scholar
  • 19 El-Gilany AH, Yahia S, Wahba Y. Prevalence of congenital heart diseases in children with Down syndrome in Mansoura, Egypt: a retrospective descriptive study. Ann Saudi Med 2017; 37 (05) 386-392
    CrossrefPubMedGoogle Scholar
  • 20 Khoury MJ, Erickson JD. Can maternal risk factors influence the presence of major birth defects in infants with Down syndrome?. Am J Med Genet 1992; 43 (06) 1016-1022
    CrossrefPubMedGoogle Scholar
  • 21 Afrouz G, Alipour A, Zayjani S. Blood group of parents of children with Down syndrome. Psychol Behav Sci 2009; 39: 179-202
    PubMedGoogle Scholar
  • 22 Abegaz SB. Human ABO blood groups and their associations with different diseases. BioMed Res Int 2021; 2021: 6629060
    CrossrefPubMedGoogle Scholar
  • 23 Mehrmohammadi M. ABO and Rh blood type relationship in parents with more than one disabled child. Iran J Ped Hematol Oncol 2015; 5 (04) 186-192
    PubMedGoogle Scholar
  • 24 Koenig SN, Bosse K, Majumdar U, Bonachea EM, Radtke F, Garg V. Endothelial Notch1 is required for proper development of the semilunar valves and cardiac outflow tract. J Am Heart Assoc 2016; 5 (04) e003075
    CrossrefPubMedGoogle Scholar
  • 25 Priest JR, Osoegawa K, Mohammed N. et al. De novo and rare variants at multiple loci support the oligogenic origins of atrioventricular septal heart defects. PLoS Genet 2016; 12 (04) e1005963
    CrossrefPubMedGoogle Scholar
  • 26 Vargiami E, Ververi A, Al-Mutawa H. et al. Multiple coronary artery microfistulas in a girl with Kleefstra syndrome. Case Rep Genet 2016; 2016: 3056053
    PubMedGoogle Scholar
  • 27 Cendal IM, Krolak-Olejnik B. Relationship between ABO blood groups and selected pregnancy conditions and neonatal diseases. Ginekol Pol 2021; 92 (11) 818-821
    CrossrefPubMedGoogle Scholar
  • 28 Letourneau A, Santoni FA, Bonilla X. et al. Domains of genome-wide gene expression dysregulation in Down's syndrome. Nature 2014; 508 (7496): 345-350
    CrossrefPubMedGoogle Scholar
  • 29 Korenberg JR, Bradley C, Disteche CM. Down syndrome: molecular mapping of the congenital heart disease and duodenal stenosis. Am J Hum Genet 1992; 50 (02) 294-302
    PubMedGoogle Scholar
  • 30 Corona-Rivera JR, Nieto-García R, Gutiérrez-Chávez AS. et al. Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico. Am J Med Genet A 2019; 179 (09) 1857-1865
    CrossrefPubMedGoogle Scholar
  • 31 Asim A, Agarwal S, Dean DD. Maternal risk factors triggering congenital heart defects in Down syndrome: a case-control study. Pediatr Rep 2022; 14 (01) 99-105
    CrossrefPubMedGoogle Scholar
  • 32 Chéhab G, Chokor I, Fakhouri H, Hage G, Saliba Z, El-Rassi I. Cardiopathie congénitale, age maternel et consanguinité parentale chez les enfants avec syndrome de down. J Med Liban 2007; 55 (03) 133-137
    PubMedGoogle Scholar
  • 33 Tüysüz B, Beker DB. Thyroid dysfunction in children with Down's syndrome. Acta Paediatr 2001; 90 (12) 1389-1393
    CrossrefPubMedGoogle Scholar
  • 34 Sharav T, Collins Jr RM, Baab PJ. Growth studies in infants and children with Down's syndrome and elevated levels of thyrotropin. Am J Dis Child 1988; 142 (12) 1302-1306
    PubMedGoogle Scholar
  • 35 Mulu B, Fantahun B. Thyroid abnormalities in children with Down syndrome at St. Paul's hospital millennium medical college, Ethiopia. Endocrinol Diabetes Metab 2022; 5 (03) e00337
    CrossrefPubMedGoogle Scholar
  • 36 Pierce MJ, LaFranchi SH, Pinter JD. Characterization of thyroid abnormalities in a large cohort of children with Down syndrome. Horm Res Paediatr 2017; 87 (03) 170-178
    CrossrefPubMedGoogle Scholar
  • 37 Bull MJ, Trotter T, Santoro SL. et al; COUNCIL ON GENETICS. Health supervision for children and adolescents with Down syndrome. Pediatrics 2022; 149 (05) e2022057010
    CrossrefPubMedGoogle Scholar