You have both decided the time is right to have a baby.
But did you know that there is a chance your child might have a disorder? If you have married within the family (a consanguineous marriage), there are things you should know before you decide to have a baby.
Autosomal Recessive Disorder
"All of us carry some abnormal gene," says Consultant Geneticist, Dr. Prochi Madon, Jaslok Hospital.
If you have only one abnormal gene you are a carrier. But you will not show any traits of the disease as the gene is recessive.
"One chromosome has a healthy pair of genes and the other has an unhealthy pair. The healthy chromosome hides the unhealthy one, making the carrier absolutely normal," says Dr. Madon.
An autosomal recessive disorder occurs when a person has two copies of the mutated gene. Some common autosomal recessive disorders are Down's Syndrome, beta thalassemia, sickle cell anaemia, cystic cell fibrosis, muscular dystrophy and spinal muscular atrophy.
Your child will get one chromosome from each of you. "If the child gets a mutated chromosome, one from each parent, then he will be affected by a disorder," says Dr. Madon.
In case you and your partner are related and there is such a genetic disorder even in a distant blood relative, you will be at risk of having an affected child.
Detect Gene
It is not necessary to have a family history of recessive disorders. So you may not know that you are carrying a recessive gene for a disease until you have a child with the disease.
The chance of passing abnormal genes down the generations is very high. "It is better to avoid consanguineous relationships if you don't want your child to manifest a disorder," says Dr. Madon.
If you are already in a consanguineous marriage, there is no need to panic. "Pre-natal tests and chorionvillus sampling (foetal diagnosis of genetic diseases in the first trimester) can be conducted at nine weeks of your pregnancy to check for genetic defects," says Gynaecologist, Dr. Ranjana Dhanu.
Consult a geneticist to understand your chances of passing on a genetic disorder to your child. Your doctor will help you make informed decisions.












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