Data and Statistics of babies born with genetic disorders
The incidence of babies born with genetic disorders varies depending on the specific disorder and the population being studied. However, here are some general statistics:
- estimated up to 7.5% of all live births worldwide have a serious congenital anomaly, many of which are caused by genetic factors.
- Down syndrome is the most common genetic disorder, affecting about 1 in 700 babies born in the USA yearly.
- Sickle cell anemia affects about 1 in 365 African-American babies born in the United States.
- Cystic fibrosis affects about 1 in 3,500 newborns in the United States.
- Hemophilia affects about 1 in 5,000 to 10,000 males worldwide.
Not all genetic disorders are detected or reported, and the incidence of genetic disorders may be higher in certain populations or geographic regions due to variations in genetic and environmental factors. Additionally, advances in genetic testing and screening may lead to increased detection of genetic disorders, which may affect reported statistics over time.
How many babies die from genetic disorders
The number of babies born with genetic disorders varies depending on the specific disorder and the population being studied. This includes a wide range of genetic disorders, such as chromosomal abnormalities, single-gene disorders, and multifactorial disorders. Some genetic disorders are relatively common, while others are quite rare. For example, Down syndrome, one of the most common genetic disorders, affects about 1 in 700 babies born in the United States each year.
On the other hand, some rare genetic disorders may affect only a few individuals or families worldwide. It’s important to note that the number of babies born with genetic disorders may be influenced by various factors such as parental age, ethnic background, and exposure to environmental toxins, among others.
The number of babies who die from genetic disorders varies depending on the specific disorder and the population being studied. Some genetic disorders may be very severe and life-threatening, while others may have mild or no symptoms. In general, the mortality rate for babies with genetic disorders can be higher than for babies without genetic disorders, particularly if the disorder affects multiple organs or systems.
For example, babies with Down syndrome may have an increased risk of heart defects and other medical complications, which can affect their survival. Similarly, babies with severe forms of sickle cell anemia may be at increased risk of infections, stroke, and other complications, which can also affect their survival.
It’s important to note that advances in medical technology and treatments have improved the survival rates of babies with genetic disorders in recent years. However, not all genetic disorders have effective treatments or cures, and some may still result in infant mortality or reduced lifespan.
What is a Genetic Disorder?
Genetic disorders are conditions that are caused by abnormalities in an individual’s DNA or genes. These abnormalities may be inherited from one or both parents or may occur spontaneously as a result of mutations or other genetic changes.
Genetic disorders can affect any part of the body and may result in a wide range of symptoms, from mild to severe. Genetic disorders can be diagnosed through genetic testing, and some can be treated or managed with medical interventions. However, not all genetic disorders have a cure or effective treatment, and some may result in lifelong disability or reduced lifespan.
What is Single-gene Disorder?
Single-gene disorders, also known as monogenic disorders, are genetic disorders caused by mutations or changes in a single gene. These disorders can be inherited in a dominant or recessive pattern, depending on whether the mutation is present on one or both copies of the gene. Single gene disorders can have a wide range of symptoms, from mild to severe, and may affect different parts of the body, including the muscles, nerves, and organs.
Diagnosis of single gene disorders typically involves genetic testing to identify the specific mutation responsible for the disorder, and treatment may include medications, surgery, or other interventions to manage the symptoms of the disorder.
Most common single-gene disorders
There are many single-gene disorders that are relatively common. Here are some examples of popular single-gene diseases:
- Cystic Fibrosis: This is an inherited disorder that affects the lungs, digestive system, and other organs. It is caused by mutations in the CFTR gene.
- Sickle Cell Anemia: This is a group of inherited red blood cell disorders that cause the cells to take on a crescent or sickle shape. It is caused by mutations in the HBB gene.
- Huntington’s Disease: This is an inherited disorder that causes the progressive breakdown of nerve cells in the brain. It is caused by mutations in the HTT gene.
- Hemophilia: This is a group of bleeding disorders that affect the blood’s ability to clot properly. It is caused by mutations in the F8 or F9 gene.
- Muscular Dystrophy: This is a group of inherited disorders that cause progressive weakness and loss of muscle mass. It is caused by mutations in genes that control muscle function, such as the DMD gene in Duchenne muscular dystrophy.
- Phenylketonuria (PKU): This is a rare inherited disorder that causes a buildup of the amino acid phenylalanine in the body. It is caused by mutations in the PAH gene.
These are just a few examples of the many single-gene disorders that exist. It’s important to note that not all genetic mutations lead to disease and that many genetic disorders are rare and only affect a small number of people.
Most rare single-gene disorders
There are many rare single-gene disorders, and the list is extensive. Here are some examples of rare single-gene disorders:
- Achondroplasia: A genetic disorder that affects bone growth, resulting in dwarfism. It is caused by mutations in the FGFR3 gene.
- Albinism: A group of inherited disorders that affect skin, hair, and eye color. It is caused by mutations in several different genes.
- Angelman Syndrome: A rare genetic disorder that affects the nervous system, causing developmental delays and intellectual disability. It is caused by a mutation or deletion of the UBE3A gene.
- Ehlers-Danlos Syndrome: A group of genetic disorders that affect the connective tissue in the body, resulting in hypermobility and joint problems. It is caused by mutations in several different genes.
- Huntington’s Disease-like syndromes: These are a group of rare genetic disorders that have symptoms similar to Huntington’s disease, but are caused by mutations in different genes.
- Pompe Disease: A rare genetic disorder that affects the muscles and other organs, causing weakness and progressive damage. It is caused by mutations in the GAA gene.
- Prader-Willi Syndrome: A rare genetic disorder that causes poor muscle tone, feeding difficulties, and delayed development. It is caused by a deletion or abnormality in the 15q11.2-q13 region of chromosome 15.
These are just a few examples of the many rare single-gene disorders that exist. It’s important to note that many of these disorders are not well understood and may have a wide range of symptoms and severity.
5 Ways to Preventing Genetic Disorder
- Genetic Counseling: If you have a family history of a genetic disorder or are at risk of carrying a genetic mutation, consider meeting with a genetic counsellor. They can provide information and guidance about the likelihood of passing on the disorder to your children and what options are available to you.
- Preimplantation Genetic Testing (PGT): PGT can be used to identify embryos that do not carry the genetic mutation that causes the disorder. These embryos can then be selected for implantation during IVF. Recommend PGT-M.
- Prenatal Genetic Testing: Prenatal testing can detect genetic disorders in a developing fetus. This can be done through procedures such as chorionic villus sampling (CVS) or amniocentesis.
- Carrier Screening: Carrier screening can identify whether you and your partner are carriers of certain genetic mutations. If both parents are carriers of the same mutation, there is a 25% chance that their child will inherit the disorder. Knowing this information ahead of time can help you make informed decisions about family planning.
- Adoption: If you have a genetic disorder or are at risk of passing on a genetic disorder, adoption can be a way to have a family without passing on the disorder.
It’s important to remember that not all genetic disorders can be prevented, and not all prevention methods are appropriate or effective for everyone. It’s important to speak with a healthcare provider or genetic counsellor to determine what options are best for you and your family
PGT-M, or Preimplantation Genetic Testing for Monogenic Disorders, is a type of assisted reproductive technology that allows couples who are carriers of a genetic disorder to have a healthy child. This technique involves screening embryos for specific genetic mutations that cause inherited diseases before they are implanted into the uterus.
Here are the steps involved in PGT-M:
- The couple undergoes in vitro fertilization (IVF), in which the woman’s eggs are harvested and fertilized with the man’s sperm in a laboratory.
- The resulting embryos are allowed to grow in the lab for a few days.
- A small sample of cells is taken from each embryo.
- The cells are analyzed to determine if the embryo carries the genetic mutation that causes the inherited disease.
- Only embryos that do not carry the mutation are selected for implantation.
PGT-M can be used to prevent a wide range of genetic disorders, such as cystic fibrosis, sickle cell anemia, and Huntington’s disease, among others.
However, PGT-M is not suitable for all couples. It is only recommended for those who are carriers of a specific genetic disorder and are at risk of passing it on to their children. PGT-M is also a costly procedure and may not be covered by insurance.
It is important to consult with a genetic counselor or fertility specialist to determine if PGT-M is a viable option for you and your partner. They can provide more information about the risks and benefits of the procedure and help you make an informed decision.