PREMARITAL GENETIC COUNSELLING (PART 1)

Parenthood is undeniably one of the most universally desired goals in adulthood. Having a healthy baby is a major wish of every couple. However studies shows that millions of children are born with congenital disorders every year, this results in many problems in the family and society especially for those who have experienced having a mentally or physically retarded child or children.

Humans and all other sexually reproducing organism, carry two genes for each trait, one from each parent, this allows them reproduce offspring’s that shares characteristics with them. This observation has been evident since prehistoric times and this is what is referred to as genetics.

Genetics is the study of how traits such as hair colour, eye colour, and risk for disease are passed (“inherited”) from parents to their children.

Your genetic information is called your genetic code or “genome”. Your genome is made up of a chemical called deoxyribonucleic acid (DNA) and is stored in almost every cell in your body. Every human is made up of about 75-100 trillion cells and 20,000 genome. Most cells in the human body contain 46 chromosomes, that is, 23 chromosomes from each parent. The 23rd pair of chromosomes X and Y. Males have one X and one Y chromosome, while females have two X chromosomes. These chromosomes contain all of the information the body requires to grow and develop normally. Chromosomal abnormalities could be a result of either a structural or numerical irregularity. Structural abnormalities may occur when a portion of a chromosome is misplaced.

Numerical abnormalities could be an increase or decrease in the typical number of chromosomes. Chromosomes abnormalities can result in different developmental defects such as Down syndrome or Tuner syndrome. The risk of these chromosomal defect increases with maternal and paternal age above 35 years old.

Genetic disorders are those diseases that are caused by the presence of a mutation in a gene. They cause varying levels of discomfort, but some could be fatal. A common example of a genetic disorder is sickle cell anaemia.

The essence of this week’s publication is to create awareness on genetic disorders and how we can join forces to reduce the burden of inherited disease and genetic disorders so as ensure better quality of life for next generation. This sure starts with genetic testing and counselling of an intending parent.
Why Genetic Testing?

Genetic testing progressively appears to give the answer to the basis of sickness and offer knowledge into the health of the population. It serves as an instrument for analysis and diagnosis. It is an important factor in disease prevention and it fulfils each person’s right to known their genetic heredity. Not only can genetic screening be used for reproductive purposes, it can also provide information about a person health and well-being. The knowledge of one’s own genetic vulnerabilities takes away the fear of the unknown, especially when such a person has a previous record of the disease. For instance, if a member of the family currently suffers from infertility, miscarriages, stillbirths or early child mortality, it could be a cause of concern for other family members. Genetic testing and counselling places concerned family members in a better position to make informed decision whenever they choose to by analysing blood, skin, hair or other body tissue sample. This test not only indicates an individual’s likelihood of developing certain disease in the future, it can also identify genetic and chromosomal abnormalities that can be passed on to off spring.

What is Genetic Counselling?

Genetic Counselling is the process by which patients or relatives at risk of an inherited disorder are advised on the consequences and nature of the disorder, the probability of developing or transmitting it, options open to them in management and family planning in order to prevent or ameliorate it. In simple worlds, the genetic counselling involves meeting medical experts who may carry out various genetic tests and also study in detail your family’s health records and medical history. The purpose of the counselling is not only risk assessment but also to explain the cause and inheritance of a disorder as well as the availability of treatment options.

Intending couple are able to find out if theirs or their spouse’s genes contain any disorder that may get transferred to their unborn baby. Therefore, the importance of genetic counselling cannot be underestimated because it is a beneficial tool in establishing any complication that may arise in your baby because of the faulty genes. Premarital counselling have played very important role in the management of many genetic disorder. People can now be equipped with a complete understanding and awareness of genetic and chromosomal inheritance and what it means to be ‘at risk’…………………………………………………………………TO BE CONTINED