By Sydney Lee
What if you were ailing with a genetic disease but were planning to have children? Would you feel scared of wanting children despite there being the possibility of passing down the disease to your offspring? There are thousands of genetic disorders that have been found in our world today, each one with its unique genetic makeup. This genetic makeup determines symptoms, severity, and heredity. The likelihood of individuals with genetic disorders having offspring is dependent on a variety of factors, including the specific disorder and its mode of inheritance. The following is information about different types of disorders that can be taken into account when people with genetic disorders want to have children.
Autosomal Recessive Disorders: The word “autosomal” means that the affected gene is on a non-sex chromosome. The word “recessive” means that it requires the inheritance of two mutated genes, one from each parent, for the disorder to manifest. If both parents are carriers, meaning they possess one copy of the mutated gene, each pregnancy has a 25% chance of resulting in a child with the disorder. Carriers of the mutated gene themselves are typically unaffected by the disorder. The most common types of autosomal recessive diseases are cystic fibrosis, sickle cell anemia, and Tay-Sachs disease.
Autosomal Dominant Disorders: In contrast to autosomal recessive, autosomal dominant disorders only require the inheritance of one mutated gene for the disorder to manifest. If one parent has the dominant disorder, each pregnancy has a 50% chance of resulting in a child with the disorder. If the offspring does not inherit the abnormal gene, then that child will not develop nor pass down the disease to their offspring. This disease can also occur as a new condition in an offspring despite neither parent having the abnormal gene. Common types of autosomal dominant disorders are Huntington's disease and Marfan syndrome.
X-linked Disorders: X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. It is generally called X-linked because the inheritance pattern of many X-linked disorders is not clearly dominant or recessive. Males possess one X chromosome, while females possess two X chromosomes (one from each parent). The phenomenon of X-linked inheritance is characterized by the fact that males, who possess only one X chromosome, are susceptible to the manifestation of a condition upon the alteration of the sole copy of the gene in each cell. Conversely, females, who possess two X chromosomes, typically experience less severe health complications than their male counterparts upon the alteration of a single copy of the gene, or may even remain asymptomatic. Notably, it is impossible for fathers to transmit X-linked traits to their sons, as male-to-male transmission is precluded. Common types of X-linked disorders include red-green color blindness and hemophilia A.
Above are just a few types of genetic disorders but there are so many more that affect millions of people all over the world. Genetic counseling is something that a lot of people could consider even if they do not believe they have a genetic disorder. Individuals with genetic disorders or a family history of genetic disorders may benefit from genetic counseling. Genetic counselors can offer personalized risk assessments based on the specific disorder, mode of inheritance, and the couple's genetic information. Additionally, they can provide information regarding reproductive options, such as preimplantation genetic diagnosis (PGD), prenatal testing, or adoption.
It is crucial to seek counsel from healthcare professionals, such as genetic counselors or medical geneticists, who can provide accurate information and guidance based on the individual's specific situation.
References:
Autosomal recessive disorder. Genome.gov. (n.d.). https://www.genome.gov/genetics-glossary/Autosomal-Recessive-Disorder
Centers for Disease Control and Prevention. (2022, June 24). Genetic counseling. Centers for Disease Control and Prevention. https://www.cdc.gov/genomics/gtesting/genetic_counseling.htm
The Children’s Hospital of Philadelphia. (2014, August 24). X-linked recessive: Red-green color blindness, hemophilia a. Children’s Hospital of Philadelphia. https://www.chop.edu/conditions-diseases/x-linked-recessive-red-green-color-blindness-hemophilia#:~:text=Examples%20of%20X%2Dlinked%20recessive,ability%20to%20see)%20is%20normal.
U.S. National Library of Medicine. (n.d.). Autosomal dominant: Medlineplus medical encyclopedia. MedlinePlus. https://medlineplus.gov/ency/article/002049.htm#:~:text=Autosomal%20dominant%20is%20one%20of,may%20also%20have%20the%20disease
U.S. National Library of Medicine. (n.d.-b). What are the different ways a genetic condition can be inherited?: Medlineplus Genetics. MedlinePlus. https://medlineplus.gov/genetics/understanding/inheritance/inheritancepatterns/
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