If you or your partner have a family history of genetic diseases, birth disorders, developmental disability or any other type of genetic disorders, your baby might be at risk of developing this disorder.
Genetic conditions refer to a group of inborn disorders that can be categorised into conditions that occur in specific areas or groups of people and conditions in which there is a family history of such disorders.
Sickle cell disease, thalassaemia, glucose-6-phosphate dehydrogenase deficiency, bleeding disorders like haemophilia, phenylketonuria, oculocutaneous albinism (sub-Saharan Africa), cystic fibrosis, Tay–Sachs disease, inborn errors of metabolism, X-linked mental retardation, genetic blindness or deafness are cases of Single-cell disorders. It might contribute to death, fetal growth retardation, preterm birth and other complications during delivery.
Chromosome disorders include Down syndrome, disorders due to translocations and can lead to recurrent miscarriages, preterm labour and premature rupture of membranes in the mother. The infant faces the risk of intrauterine death, fetal growth retardation, preterm birth, complications during delivery and neonatal complications/manifestations.
It is critical that the family history is thoroughly analysed by checking the age of the couple along with the ethnicity, consanguinity and past medical and obstetric history. This will help in accurately diagnosing the genetic disease. Genetic counselling, carrier screening and testing will help in zeroing in on the appropriate treatment.
Health problems | Issues to maternal health | Issues to infant health |
---|---|---|
Single-gene disorders, e.g. sickle-cell disease, thalassaemia, glucose-6-phosphate dehydrogenase deficiency, bleeding disorders (particularly haemophilia), phenylketonuria, oculocutaneous albinism (sub-Saharan Africa), cystic fibrosis, Tay–Sachs disease, inborn errors of metabolism, X-linked mental retardation, genetic blindness or deafness. | Depending on the disorder, these may contribute to some of the following: recurrent miscarriage, pregnancy complications (e.g. pre-eclampsia, maternal death), intellectual or physical disability. | Depending on the disorder, these may contribute to some of the following: intrauterine death, hydrops fetalis (in alpha- thalassaemias and other red cell disorders), fetal growth retardation, preterm birth, complications of delivery (e.g. early death, respiratory distress, haemorrhage, anoxia), neonatal complications/manifestations (e.g. anaemia, haemolysis, convulsions, respiratory distress, cardiac failure). |
Chromosome disorders, e.g. Down syndrome, disorders due to translocations. | Recurrent miscarriage, preterm labour, premature rupture of membranes. | Intrauterine death, fetal growth retardation, preterm birth, complications of delivery, neonatal complications/manifestations. |
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