Congenital malformations in newborns of consanguineous and non-consanguineous parents

To find out the pattern of different congenital malformation [CM] and to compare the proportion of congenital malformations between consanguineous and non-consanguineous parents. This observational study was done in Countess of Dufferin Fund Hospital, [CDF] Hyderabad from July 2006 to June 2008. All newborns with congenital anomaly at birth were included. Complete examination of the newborn after birth and relevant investigations were done. Babies with malformations whose parents were consanguineous were compared with babies having CM whose parents were non-consanguineous. Maternal age, parity, singletons, multiple births, still births and neonatal death were also recorded. Overall prevalence of congenital malformations was 15.7 / 1000 births. Central nervous system anomalies were the commonest [51%]. Congenital malformations in the newborns of consanguineous parents were significantly higher than in the newborns of non-consanguineous parents. Still births and neonatal deaths were commoner in the newborns of consanguineous parents. The results of this study show that parental consanguinity is associated with increased congenital malformations; neural tube defect is the most common anomaly seen

Meckel Gruber syndrome: occurrence in non-consanguineous marriages.

Meckel Gruber syndrome is an uncommon, lethal, autosomal recessive disorder, associated consistently with polycystic kidneys, posterior encephalocoele and polydactly. We report three cases in non-consanguineous marriages, suggesting that the single gene defect occurs more commonly in non-consanguineous marriages than mutant genes associated with other autosomal recessive disorders that are usually related with consanguineous marriages. The usefulness of prenatal diagnosis is discussed.

Perda reprodutiva associada a translocaçäo cromossômica tipo robertsoniana / Reproductive loss associated with chromossomic translocation type robertsonian

Os autores apresentam um caso de infertilidade de seis anos, com história de perda reprodutiva na 17ª semana de gestaçao, associada a translocaçao equilibrada tipo Robertsoniana 13/13 em um dos cônjuges.

Reproductive profile of mothers in relation to hemoglobin E genotypes.

The reproductive profile of 190 Ahom-Kachari mothers belonging to Mongoloid ethnic stock of Assam has been studied in relation to hemoglobin (Hb) E genotypes. No significant variations have been observed in the reproductive performance between the normal population and abnormal hemoglobin homozygote (HbEE) and heterozygote (HbAE) mothers. However, the reproductive wastage among the hemoglobin homozygote (HbEE) mothers has been observed to be double than the normal hemoglobin (HbAA) and abnormal hemoglobin heterozygote (HbAE) mothers. The reproductive performance parameters have also been compared with the other available studies.

Estudio citogenético en parejas con abortos espontaneos y pérdidas fetales a repetición / Cytogenetic study in couples with spontaneous abortions and repeated fetal loss

Diferentes investigadores han coincidido en que las parejas que presentan abortos espontáneos recurrentes, niños previos con malformaciones múltiples y/o muertes fetales, tienen una relativa alta frecuencia de reordenamientos cromosómicos balanceados. Se estudiaron 562 parejas con antecedentes de abortos espontáneos y pérdidas fetales recurrentes: se detectaron 17 casos positivos para una frecuencia de portadores en la población estudiada de 3,02 %. Se les ofreció asesoramiento genético a todos los casos portadores de alteraciones cromosómicas sobre los riesgos en futura descendencia