CONSAGUINITY AND APNEA OF PREMATURITY

1. CONSAGUINITY AND APNEA OF PREMATURITY Hala Tamim, PhD1 Khalid Yunis, MD2

2. Background Definition of consanguinity Consanguineous marriage is the union of individuals having a common ancestor. It is categorized as 1st, 2nd and 3rd degree. The 1st being the closest kinship. It is believed that consanguineous marriages would preserve: Family dynamics & structure and provide: Cultural, Social and economic benefits.

3. Background Prevalence of Consanguinity High estimates of consanguineous marriages have been reported in various Arab countries: • 54% in Kuwait1 • 29-50% in Egypt2 • 52% in Saudi Arabia3 • 51% in the United Arab Emirates4 • 50% in Jordan5 • 15% in Lebanon6 • 40% in Yemen7.

4. Background Socio-demographic Characteristics of Consanguinity Consanguineous marriages are more prevalent in rural than urban areas8, such marriages have been positively associated with: Low age at marriage8, Low educational level of the mother9, Low occupational status of husband5.

5. Background Health Impacts of Consanguinity Parental consanguinity increases the autosomal recessive conditions through the expression of recessive deleterious alleles, especially in the offspring of first degree cousins.

6. Background Cont’d Health Impacts of Consanguinity Parental consanguinity has been associated with increased risk of pediatric disorders including: Stillbirths and perinatal mortality10, Congenital birth defects, Malformations, and mental retardation11, Blood diseases (hemophilia, â-thalassemia)12, cystic fibrosis13, Chronic renal failure14 and Neonatal diabetes mellitus15.

7. Background Apnea of Prematurity Apnea of prematurity is a common problem in the neonatal intensive care setting that affects premature infants (those born before 37 weeks of gestation). It is defined as either the cessation of breathing for longer than 20 seconds or that of any duration if accompanied by cyanosis and sinus bradycardia.

8. Objective The aim of this study was to examine the association between consanguinity and apnea of prematurity among infants born in Greater Beirut, Lebanon, a country with a relatively high prevalence of consanguineous marriages.

9. National Collaborative Perinatal Neonatal Network NCPNN • Initiated in September 1998, the National Collaborative Perinatal Neonatal Network (NCPNN) is a non-profit voluntary collaboration of health professionals. • NCPNN contains major hospitals in the city of Beirut as well as hospitals in the South, East, North and the mountains. The network is now in the process of expanding to other areas in Lebanon (Annex 1,2).

10. National Collaborative Perinatal Neonatal Network NCPNN • Data is collected prospectively at the network hospitals. • Information on maternal and neonatal characteristics is obtained from obstetric and nursery records and through direct interviews with the mothers before hospital discharge.

11. Methods Subjects Between September 1, 1998, and March 31, 2001, a total of 21,723 consecutive newborn infants were delivered and admitted to the NCPNN.

12. Methods Subjects Inclusion criteria were: Infants less than 37 weeks of gestation, admitted to the intensive care unit of one of the NCPNN centers, and having no congenital malformations, sepsis, neurologic disorders, or metabolic and electrolytic disturbances such as hypoglycemia, hypocalcemia, or hypomagnesemia.

13. Methods Subjects The inclusion criteria were satisfied for 857 infants of the total of 21,723 infants, of whom 78 had apnea of prematurity. Analysis was based on 597 infants with complete information on consanguinity, 66 of whom had apnea of prematurity.

14. Methods Statistical analysis To assess the relation between neonatal characteristics and Apnea of Prematurity, odds ratios and 95 percent confidence intervals were calculated. Variables significantly associated with Apnea of Prematurity at the bivariate level were included in a logistic regression model to determine the independent effect of consanguinity on apnea of prematurity.

15. Results Bivariate analysis revealed that the variables significantly associated with Apnea of Prematurity were: First-degree consanguinity, Gestational age, Presence of complications during pregnancy, Multiple gestation, 5-minute Apgar score (Table 1).

16. Results Table 1: Association between Neonatal characteristics and Apnea of Prematurity

17. Results Adjusting for Gestational age, Presence of complications during pregnancy, Multiple gestation and 5-minute Apgar score, the effect of first-degree consanguinity on Apnea of Prematurity was OR: 2.89 CI: 1.3-6.43 (Table 2).

18. Results Table 2: Logistic regression analysis of the main predictors of Apnea of Prematurity

19. Conclusion There is an urgent need to inform the public properly about the anticipated deleterious effects of inbreeding in societies where intermarriage is widely practiced. Further etiologic studies that look into the association of consanguinity and apnea of prematurity are needed to support this finding and clarify the significance of such an association.

20. References

21. Annex 1 Project director: Khalid A. Yunis, MD Pediatrics & Neonatology NETWORK COORDINATING CENTER (AUBMC) Co-investigators: Mustafa Khogali, MD Family Medicine Hala Tamim, PhD Epidemiology & Population Health Network statistician: (Epidemiology and Population Health) GhinaMumtaz, M.Sc (2002-present) Ban Al Sahab, M.Sc (2003-2004) Hind Beydoun, MPH (1999-2003) Choghik Boulghourjian, M.Sc (1998-2001) Network coordinator: Pascale Nakad, B.Sc (1999-present) Dania Abi Haydar, B.Sc (1999-present) Hiba Al Assaad, B.Sc (2001-2003) May Al Kassar, B.Sc (2001-present) Bassima Dergham, B.Sc (2002-present) Mary Ghanem, MPH (2003-2004) Diana Jamal,B.Sc (2004-present) May Sanyoura. B.Sc. (2004-present) Research Assistants:

22. CURRENT INVESTIGATORS AT NCPNN MEMBER INSTITUTIONS (by alphabetical order)