The birth of a newborn brings happiness and a smile to the face of parents. Most of the babies are born healthy, while some babies are born with serious but treatable medical conditions if diagnosed early.
Can genetic diseases transfer from parents to the progeny? This is one of the most commonly asked questions from many parents. The answer to this is yes, there is a probability of transferring such diseases from affected parents to their children. If parents are a carrier of any diseases or concerns they must take the help of a doctor and also go for several tests both before and after the birth of the baby to make their little one’s future healthy and secure. Read on to know more about genetic diseases and tests that can diagnose these conditions.
There is a great likelihood of inheriting genetic diseases (passing it down from the parents to the offspring) if the parent is a carrier of the disease (have one or more of their genes altered/mutated) whether or not they show symptoms of the disease. A child can develop a hereditary disease if there is a genetic error during the formation of the fetus. In other words, there is an alteration of genes spotted in the germline cells (sperms or eggs) of the affected person (biological parent).
Genetic diseases can be transferred from parents to the progeny in different patterns:
- Autosomal dominant– For individuals suffering from autosomal dominant disorders like Marfan’s syndrome and Huntington’s disease, there is a 50% chance of the child having the same condition.
- Autosomal recessive– For parents who are not diseased but carry a single copy of each of the altered genes then there is only a 25% chance of the child being affected. If only one parent is a carrier, no child will develop the disorder. Examples of such an inheritance pattern are sickle cell disease and cystic fibrosis.
- X-linked dominant– Inheritance of X-linked dominant conditions (such as Fragile X syndrome) differs in males and females as women have both X chromosomes and men have one Y and one X chromosome. A man will pass his X chromosomes to all of his daughters and Y chromosomes to his sons while a woman transfers her X chromosomes to each of her children. Therefore, the daughters of men having this condition will only be affected and there will be a 50% chance of inheriting the condition in the son or daughter of an affected woman.
- X-linked recessive– In such a case, the sons of men affected with this condition will not be affected and the daughters will carry only one altered gene copy while there is a 50% probability of having sons affected and 50% of a daughter becoming a carrier in a woman affected by X-linked recessive condition. Examples of such genetic diseases include Fabry disease and Hemophilia.
- Y-linked– The Y-linked diseases pass on from affected male parents to all of his sons. Examples include Hypertrichosis of the ears, porcupine man, and webbed toes.
Detection Of Genetic Diseases:
If one has a family history of a genetic disorder, one must go for consider genetic counseling and genetic testing. Simple lab tests can typically show whether you have gene mutations responsible for that condition. In many cases, carrying the mutation always does not mean one will have it (in case of recessive condition). Genetic counselors and the following tests are steps one can take to protect their newborn health.
If one is having a family history of genetic diseases, then genetic material DNA testing for the disorders is very much an important part of starting a family. The testing options include:
Newborn screening: Many children inherit genetic diseases from their parents and this makes them prone to develop this disease later in their life. Certain disorders can affect newborns and these are not apparent at the time of the baby’s birth, and these disorders have the potential to cause damage to the neurological, cognitive, and physical growth of the child.
With the preventive newborn screening test that uses a sample of a newborn baby’s blood taken just after a few hours of birth. The test helps detect several genetic, hormonal, and blood disorders. Detecting genetic disorders at the initial stage can help a child receive timely care if needed and help secure their future.
Carrier testing: This is a type of blood test performed to detect if male, female, or both partners (parents) carry a mutation linked to genetic disorders. This test is recommended for everyone who wants to achieve a healthy pregnancy, even if there is no sign of a family history of genetic disorders.
Prenatal screening: This is a type of blood test performed in pregnant women that helps detect if the unborn child could have a common ‘chromosome’ condition/disorder.
Prenatal diagnostic testing: Prenatal testing involves taking a sample of fluid from the pregnant women’s womb and helping detect if the unborn child is at higher risk for certain genetic disorders.