Sex and congenital malformations: An international perspective

Abstract

The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or syndromic. We selected cases of 26 major defects (n = 108,534); trisomy 21, 18, and 13 (n = 30,114); other syndromes (n = 2,898); and multiple congenital anomalies (n = 24,197), for a total of 165,743 cases. We observed a significant deviation of sex distribution (compared to a sex ratio of 1.06 or male proportion of 51.4%) for 24 of the 29 groups (a male excess in 16, a female excess in 8), and in 8 of such groups these estimates varied significantly across registries. A male excess was noted for two left obstructive cardiac defects (hypoplastic left heart and coarctation of the aorta) and a female excess for all the main types of neural tube defects. A male excess was seen for omphalocele but not gastroschisis. For neural tube defects the female excess tended to be stronger in areas with historically high prevalence for these defects. For 15 of the 26 birth defects the sex distribution differed among isolated, associated, and syndromic cases. Some of these epidemiologic commonalities are consistent with known or putative developmental processes. Further, the geographic variation for some defects may reflect local prevalence rates and risk factors. Finally, the findings underscore the need for clinical classification (e.g., into isolated, multiple, syndromes) in studies of birth defects.

Pregnancy Protection Program in a Large Chemical Company: Infant Outcomes

“…4 The ratio of male to female births generally centers around 1.04:1.06 with a slight downward trend noted in recent years. [5][6] The ratios in our study and for Germany in 2002 4 were 1.00 and 1.02, respectively.…”

Prevalencia de defectos congénitos diagnosticados al nacimiento según el nivel de atención en dos hospitales de Cali-Colombia, 2012-2013

“…Los defectos de (10) 11 (4,8) 10 (4,4) 9 (3,9) 3 (1,3) 5 (2,2) 27 (11,8) 10 (4,4) 6 (2,6) 25 (10,9) 6 (2,6) 8 (3,5) 7 (3,1) 39 (17) 12 (5,2) 10 (4,4) 30 (13,1) 15 (6,6) 5 (2,2) 26 (11,4) 13 (5,7) 7 (3,1) 11 (4,8) 5 (2,2) 1 (0,4) 2 (0,9) 6 (2,6) 6 (2,6) 7 (3,1) 0 (0) 174 (76) mayor prevalencia en la Fundación se presentaron muy poco en el Hospital, con una prevalencia menor a la reportada en la literatura científica. Estas diferencias tan acentuadas pueden explicarse por el tipo de control prenatal que se lleva a cabo según el nivel de complejidad de las instituciones, el cual se enfoca de manera distinta según la condición asociada en el feto o en la madre.…”

“…Los defectos congénitos se presentan en instituciones de mediana y alta complejidad; su identificación, caracterización y cuantificación solo son posibles mediante la vigilancia sistemática, la 9 Los resultados presentados confirman que los defectos congénitos se presentan en cualquier nivel de complejidad y que el reto es disponer de la logística requerida para identificarlos. Sin embargo, la prevalencia general y la prevalencia por tipo de defecto fueron diferentes, razón por la cual la medición de la prevalencia general en la ciudad debería incluir instituciones de diferentes niveles de complejidad, ya que ignorar dicha variabilidad llevaría a estimaciones equivocadas.…”

Impact and risk factors of craniofacial malformations in a Colombian population

“…Sex ratio for craniofacial malformations has an established distribution of a male preponderance for anotia and cleft lip with or without palate and a female preference for bilateral choanal atresia and cleft palate [12,13].…”