[Spectrum of congenital malformations observed in neonates of consanguineous parents]. / Espectro de malformaciones congénitas observadas en recién nacidos de progenitores consanguíneos.

INTRODUCTION: Consanguineous unions occur in all populations around the world. Couples related as second cousins or closer have been observed with deleterious effect. Among the clinical effects of parental consanguinity, the incidence of offspring with congenital malformations (CM) increases approximately two-fold. MATERIALS AND METHODS: A hospital database of neonates with CM was searched to select neonates with parental consanguinity and two control groups. One control group consisted of healthy neonates and the other control group consisted of neonates with CM but without parental consanguinity. Both control groups consisted of the first neonate of the same sex to be born after a consanguineous neonate with CM. Family, sociodemographic and anthropometric variables, as well as the severity of the malformations, were compared between the two groups with CM. Neonates with CM were grouped into five categories: Major multiple CM, minor multiple CM, isolated major CM, isolated minor CM, and specific diseases. The indigenous Mayan subpopulation was also analyzed. RESULTS: Among 1117 neonates with CM, parental consanguinity was found in 21. Parental consanguinity was also found in 8 neonates in the group of healthy controls (OR 2.4 [1.05-5.95]). The most common form of consanguinity was between second cousins and was more frequent in the Mayan subpopulation. Major multiple CM were more frequent among consanguineous than among nonconsanguineous couples. No association was found between the severity of CM and the degree of relationship. CONCLUSIONS: The prevalence of consanguinity found in neonates with CM and healthy controls (1.9 % and 0.8 %) was similar to that found in other Latin populations. A higher prevalence was found in the Mayan population. Mayor multiple CM were more frequent among the neonates of consanguineous than among nonconsanguineous couples.

Espectro de malformaciones congénitas observadas en recién nacidos de progenitores consanguíneos / Spectrum of congenital malformations observed in neonates of consanguineous parents

Introducción Las uniones consanguíneas ocurren en todas las poblaciones, las de primos segundos o con parentesco más cercano son las que se han observado con influencia genética. Entre las posibles consecuencias clínicas, se estima que se incrementa al doble el riesgo de tener descendencia con malformaciones congénitas (MC). Material y métodos De un registro hospitalario de recién nacidos (RN) con MC, se seleccionó a los que tuvieron antecedente de consanguinidad, y dos grupos controles, uno sano y otro malformado sin antecedentes de consanguinidad, correspondiente a los nacimientos siguientes al malformado consanguíneo del mismo sexo. Se analizaron variables familiares, sociodemográficas y antropométricas, así como la gravedad de las MC entre los dos grupos malformados. Los RN con MC se agruparon en cinco categorías: MC múltiples mayores (MC Múlt1), MC múltiples menores (MC Múlt­), MC aisladas mayores (MC Ais1), MC aisladas menores (MC Ais­), y patologías específicas. Adicionalmente, se analizó a la subpoblación indígena maya. Resultados De 1.117 RN con MC, se encontró antecedente de consanguinidad en 21, y 8 entre los controles sanos, odds ratio 2,4 (1,05-5,95). El grado de parentesco más frecuente fue el de primos segundos, con mayor frecuencia de consanguinidad en el grupo étnico maya. Se encontró mayor número de afectados malformados múltiples entre las uniones consanguíneas, que entre las no consanguíneas. No hubo relación entre la gravedad de las MC y el parentesco. Conclusiones La prevalencia de consanguinidad de 1,9 y 0,8 % encontradas entre RN malformados y controles es similar a la de otras poblaciones latinas. El grupo étnico maya presentó mayor prevalencia, y las MC múltiples mayores fueron más frecuentes entre los malformados consanguíneos que entre los no consanguíneos

Introduction Consanguineous unions occur in all populations around the world. Couples related as second cousins or closer have been observed with deleterious effect. Among the clinical effects of parental consanguinity, the incidence of offspring with congenital malformations (CM) increases approximately two-fold. Materials and methods A hospital database of neonates with CM was searched to select neonates with parental consanguinity and two control groups. One control group consisted of healthy neonates and the other control group consisted of neonates with CM but without parental consanguinity. Both control groups consisted of the first neonate of the same sex to be born after a consanguineous neonate with CM. Family, sociodemographic and anthropometric variables, as well as the severity of the malformations, were compared between the two groups with CM. Neonates with CM were grouped into five categories: Major multiple CM, minor multiple CM, isolated major CM, isolated minor CM, and specific diseases. The indigenous Mayan subpopulation was also analyzed. Results Among 1117 neonates with CM, parental consanguinity was found in 21. Parental consanguinity was also found in 8 neonates in the group of healthy controls (OR 2.4 [1.05-5.95]). The most common form of consanguinity was between second cousins and was more frequent in the Mayan subpopulation. Major multiple CM were more frequent among consanguineous than among nonconsanguineous couples. No association was found between the severity of CM and the degree of relationship. Conclusions The prevalence of consanguinity found in neonates with CM and healthy controls (1.9 % and 0.8 %) was similar to that found in other Latin populations. A higher prevalence was found in the Mayan population. Mayor multiple CM were more frequent among the neonates of consanguineous than among nonconsanguineous couples