Startseite Medizin Perinatal outcome of congenital heart disease in a population with high consanguinity
Artikel
Lizenziert
Nicht lizenziert Erfordert eine Authentifizierung

Perinatal outcome of congenital heart disease in a population with high consanguinity

  • Mohamed A. Hamdan , Fares Chedid , Gharid N. Bekdache , Muzibunissa Begam , Walaa Alsafi , Zainab Sabri und Hisham M. Mirghani EMAIL logo
Veröffentlicht/Copyright: 11. April 2014

Abstract

Objective: To report the perinatal pattern and outcome of fetuses with congenital heart disease (CHD) in consanguineous marriages.

Methods: Retrospective chart review was performed for fetuses undergoing fetal echocardiography (FE) in our institution. The primary outcome was survival at 28 days after birth.

Results: Between 1 January 2005 and 31 December 2010, 1950 pregnant women carrying 2151 fetuses underwent a total of 2828 FEs. CHD was diagnosed in 152 fetuses (7.1%), and perinatal outcome was available in 120, among which 78 (65%) had consanguineous parents. Thirteen fetuses died in utero, while 86 (71.7%) survived. The most prevalent lesions included left heart obstruction (25.8%), conotruncal malformations (21.7%), septal defects (18.3%), and cardiomyopathy (15.8%). Correct diagnosis was achieved in 92.2% of the cases. Extracardiac malformations occurred in 48.3% of the fetuses and were associated with increased mortality regardless of the type of CHD (P<0.001, odds ratio 6.8, 95% confidence interval 2.7–17.5).

Conclusion: Joint FE clinics detect most CHD with high accuracy. Consanguinity contributes to a higher prevalence of fetal cardiac and non-cardiac malformations. The presence of extracardiac anomalies is associated with an increase in perinatal mortality.


Corresponding author: Dr. Hisham M. Mirghani, Faculty of Medicine and Health Sciences, Department of Obstetrics and Gynecology, United Arab Emirates University, PO Box 17666, Al-Ain, United Arab Emirates, Tel.: +971 3 7137562, Fax: +971 3 7672067, E-mail:

References

[1] Abdulrazzaq YM, Bener A, al-Gazali LI, al-Khayat AI, Micallef R, Gaber T. A study of possible deleterious effects of consanguinity. Clin Genet. 1997;51:167–73.10.1111/j.1399-0004.1997.tb02447.xSuche in Google Scholar PubMed

[2] al-Gazali LI, Bener A, Abdulrazzaq YM, Micallef R, al-Khayat AI, Gaber T. Consanguineous marriages in the United Arab Emirates. J Biosoc Sci. 1997;29:491–7.10.1017/S0021932097004914Suche in Google Scholar

[3] al-Gazali LI, Dawodu AH, Sabarinathan K, Varghese M. The profile of major congenital abnormalities in the United Arab Emirates (UAE) population. J Med Genet. 1995;32:7–13.10.1136/jmg.32.1.7Suche in Google Scholar PubMed PubMed Central

[4] Al Hosani H, Salah M, Abu-Zeid H, Farag HM, Saade D. The national congenital anomalies register in the United Arab Emirates. East Mediterr Health J. 2005;11:690–9.Suche in Google Scholar

[5] al Talabani J, Shubbar AI, Mustafa KE. Major congenital malformations in United Arab Emirates (UAE): need for genetic counselling. Ann Hum Genet. 1998;62:411–8.10.1046/j.1469-1809.1998.6250411.xSuche in Google Scholar PubMed

[6] Amir A, Merlob P, Linder N, Sirota L, Klinger G. Mortality of full-term infants during the first month of life in a tertiary care hospital. J Perinatol. 2007;27:620–2.10.1038/sj.jp.7211812Suche in Google Scholar PubMed

[7] Bener A, Abdulrazzaq YM, al-Gazali LI, Micallef R, al-Khayat AI, Gaber T. Consanguinity and associated socio-demographic factors in the United Arab Emirates. Hum Hered. 1996;46:256–64.10.1159/000154362Suche in Google Scholar PubMed

[8] Bittles AH. Assessing the influence of consanguinity on congenital heart disease. Ann Pediatr Cardiol. 2011;4:111–6.10.4103/0974-2069.84637Suche in Google Scholar PubMed PubMed Central

[9] Blue GM, Kirk EP, Sholler GF, Harvey RP, Winlaw DS. Congenital heart disease: current knowledge about causes and inheritance. Med J Aust. 2012;197:155–9.10.5694/mja12.10811Suche in Google Scholar PubMed

[10] Dawodu A, Al-Gazali L, Varady E, Varghese M, Nath K, Rajan V. Genetic contribution to high neonatally lethal malformation rate in the United Arab Emirates. Community Genet. 2005;8: 31–4.10.1159/000083335Suche in Google Scholar PubMed

[11] Dawodu A, Varady E, Nath KN, Rajan TV. Neonatal outcome in the United Arab Emirates: the effect of changes in resources and practices. East Mediterr Health J. 2005;11:673–9.Suche in Google Scholar

[12] Dolk H, Loane M, Garne E. The prevalence of congenital anomalies in Europe. Adv Exp Med Biol. 2010;686:349–64.10.1007/978-90-481-9485-8_20Suche in Google Scholar PubMed

[13] El Mouzan MI, Al Salloum AA, Al Herbish AS, Qurachi MM, Al Omar AA. Consanguinity and major genetic disorders in Saudi children: a community-based cross-sectional study. Ann Saudi Med. 2008;28:169–73.10.5144/0256-4947.2008.169Suche in Google Scholar

[14] Fesslova V, Nava S, Villa L. Evolution and long term outcome in cases with fetal diagnosis of congenital heart disease: italian multicentre study. Fetal Cardiology Study Group of the Italian Society of Pediatric Cardiology. Heart. 1999;82:594–9.10.1136/hrt.82.5.594Suche in Google Scholar

[15] Friedberg MK, Silverman NH. Changing indications for fetal echocardiography in a University Center population. Prenat Diagn. 2004;24:781–6.10.1002/pd.981Suche in Google Scholar PubMed

[16] Gardiner HM. Fetal echocardiography: 20 years of progress. Heart. 2001;86(Suppl 2):II12–22.Suche in Google Scholar

[17] Kaguelidou F, Fermont L, Boudjemline Y, Le Bidois J, Batisse A, Bonnet D. Foetal echocardiographic assessment of tetralogy of Fallot and post-natal outcome. Eur Heart J. 2008;29:1432–8.10.1093/eurheartj/ehn194Suche in Google Scholar PubMed

[18] Kramer P, Absi D, Hetzer R, Photiadis J, Berger F, Alexi- Meskishvili V. Outcome of surgical correction of congenital supravalvular aortic stenosis with two- and three-sinus reconstruction techniques. Ann Thorac Surg. 2014;97:634–40.10.1016/j.athoracsur.2013.09.083Suche in Google Scholar PubMed

[19] Lee W, Allan L, Carvalho JS, Chaoui R, Copel J, Devore G, et al. ISUOG consensus statement: what constitutes a fetal echocardiogram? Ultrasound Obstet Gynecol. 2008;32:239–42.10.1002/uog.6115Suche in Google Scholar PubMed

[20] Liu S, Joseph KS, Lisonkova S, Rouleau J, Van den Hof M, Sauve R, et al. Association between maternal chronic conditions and congenital heart defects: a population-based cohort study. Circulation. 2013;128:583–9.10.1161/CIRCULATIONAHA.112.001054Suche in Google Scholar PubMed

[21] Madsen NL, Schwartz SM, Lewin MB, Mueller BA. Prepregnancy body mass index and congenital heart defects among offspring: a population-based study. Congenit Heart Dis. 2013;8:131–41.10.1111/j.1747-0803.2012.00714.xSuche in Google Scholar PubMed

[22] Mahle WT, Clancy RR, McGaurn SP, Goin JE, Clark BJ. Impact of prenatal diagnosis on survival and early neurologic morbidity in neonates with the hypoplastic left heart syndrome. Pediatrics. 2001;107:1277–82.10.1542/peds.107.6.1277Suche in Google Scholar PubMed

[23] Marek J, Tomek V, Skovranek J, Povysilova V, Samanek M. Prenatal ultrasound screening of congenital heart disease in an unselected national population: a 21-year experience. Heart. 2011;97:124–30.10.1136/hrt.2010.206623Suche in Google Scholar PubMed

[24] Meberg A, Hals J, Thaulow E. Congenital heart defects – chromosomal anomalies, syndromes and extracardiac malformations. Acta Paediatr. 2007;96:1142–5.10.1111/j.1651-2227.2007.00381.xSuche in Google Scholar PubMed

[25] Meyer-Wittkopf M, Cooper S, Sholler G. Correlation between fetal cardiac diagnosis by obstetric and pediatric cardiologist sonographers and comparison with postnatal findings. Ultrasound Obstet Gynecol. 2001;17:392–7.10.1046/j.1469-0705.2001.00381.xSuche in Google Scholar PubMed

[26] Moodley S, Sanatani S, Potts JE, Sandor GG. Postnatal outcome in patients with fetal tachycardia. Pediatr Cardiol. 2013;34:81–7.10.1007/s00246-012-0392-7Suche in Google Scholar

[27] Morris SA, Ethen MK, Penny DJ, Canfield MA, Minard CG, Fixler DE, et al. Prenatal diagnosis, birth location, surgical center, and neonatal mortality in infants with hypoplastic left heart syndrome. Circulation. 2014;129:285–92.10.1161/CIRCULATIONAHA.113.003711Suche in Google Scholar

[28] Nabulsi MM, Tamim H, Sabbagh M, Obeid MY, Yunis KA, Bitar FF. Parental consanguinity and congenital heart malformations in a developing country. Am J Med Genet A. 2003;116A:342–7.10.1002/ajmg.a.10020Suche in Google Scholar

[29] Raboisson MJ, Samson C, Ducreux C, Rudigoz RC, Gaucherand P, Bouvagnet P, et al. Impact of prenatal diagnosis of transposition of the great arteries on obstetric and early postnatal management. Eur J Obstet Gynecol Reprod Biol. 2009;142:18–22.10.1016/j.ejogrb.2008.09.001Suche in Google Scholar

[30] Ramegowda S, Ramachandra NB. Parental consanguinity increases congenital heart diseases in South India. Ann Hum Biol. 2006;33:519–28.10.1080/03014460600909349Suche in Google Scholar

[31] Randall P, Brealey S, Hahn S, Khan KS, Parsons JM. Accuracy of fetal echocardiography in the routine detection of congenital heart disease among unselected and low risk populations: a systematic review. BJOG 2005;112:24–30.10.1111/j.1471-0528.2004.00295.xSuche in Google Scholar

[32] Sharland G. Routine fetal cardiac screening: what are we doing and what should we do? Prenat Diagn. 2004;24:1123–9.10.1002/pd.1069Suche in Google Scholar

[33] Sheridan E, Wright J, Small N, Corry PC, Oddie S, Whibley C, et al. Risk factors for congenital anomaly in a multiethnic birth cohort: an analysis of the Born in Bradford study. Lancet. 2013;382:1350–9.10.1016/S0140-6736(13)61132-0Suche in Google Scholar

[34] Simpson LL. Screening for congenital heart disease. Obstet Gynecol Clin North Am. 2004;31:51–9.10.1016/j.ogc.2003.12.001Suche in Google Scholar PubMed

[35] Sistino JJ, Bonilha HS. Improvements in survival and neurodevelopmental outcomes in surgical treatment of hypoplastic left heart syndrome: a meta-analytic review. J Extra Corpor Technol. 2012;44:216–23.10.1051/ject/201244216Suche in Google Scholar

[36] Yunis K, Mumtaz G, Bitar F, Chamseddine F, Kassar M, Rashkidi J, et al. Consanguineous marriage and congenital heart defects: a case-control study in the neonatal period. Am J Med Genet A. 2006;140:1524–30.10.1002/ajmg.a.31309Suche in Google Scholar

[37] Zolberg AR. Managing a world on the move. Popul Dev Rev. 2006;32(Suppl 1):222–53.10.1111/j.1728-4457.2006.tb00009.xSuche in Google Scholar

The authors stated that there are no conflicts of interest regarding the publication of this article.

Received: 2014-1-18
Accepted: 2014-3-24
Published Online: 2014-4-11
Published in Print: 2015-11-1

©2015 by De Gruyter

Artikel in diesem Heft

  1. Frontmatter
  2. Editorial
  3. Maternal risk: assessment and management
  4. Original articles – Obstetrics
  5. Ebola virus screening during pregnancy in West Africa: unintended consequences
  6. Strain at the internal cervical os assessed with quasi-static elastography is associated with the risk of spontaneous preterm delivery at ≤34 weeks of gestation
  7. Can routine laboratory parameters predict adverse pregnancy outcomes in intrahepatic cholestasis of pregnancy?
  8. Pulmonary edema in pregnancy and the puerperium: a cohort study of 53 cases
  9. Incidence and outcomes of women with Hodgkin’s lymphoma in pregnancy: a population-based study on 7.9 million births
  10. Differential utilization of expanded genetic screening tests in patients of reproductive ages from private and academic practices
  11. Association of maternal blood pressure in pregnancy with blood pressure of their offspring through adolescence
  12. Oxytocin utilization for labor induction in obese and lean women
  13. Breech delivery in the all fours position: a prospective observational comparative study with classic assistance
  14. Position at birth as an important factor for the occurrence of anal sphincter tears: a retrospective cohort study
  15. Emergency peripartum hysterectomy and risk factors by mode of delivery and obstetric history: a 10-year review from Helsinki University Central Hospital
  16. Delivery outcomes after day and night onset of labour
  17. Original articles – Fetus
  18. Perinatal outcome of congenital heart disease in a population with high consanguinity
  19. Complex and irregular heart rate dynamics in fetuses compromised by maternal anemia as a high-risk pregnancy
  20. Clinical application of fetal left modified myocardial performance index in the evaluation of fetal growth restriction
  21. First-trimester fetal growth discordance and development of preeclampsia in dichorionic twin pregnancies
  22. Original articles – Newborn
  23. Neonatal outcome in pregnant patients with antiphospholipid syndrome
  24. A longitudinal study of brainstem auditory response from birth to late term in late preterm babies and abnormal findings in high-risk babies
  25. Suctioning habits in the delivery room and the influence on postnatal adaptation – a video analysis
  26. Short communications
  27. Management of vasa previa during pregnancy
  28. Uterine rupture after the uterine fundal pressure maneuver
  29. Congress Calendar
  30. Congress Calendar
Heruntergeladen am 31.12.2025 von https://www.degruyterbrill.com/document/doi/10.1515/jpm-2014-0019/html
Button zum nach oben scrollen