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Genetic Screening

You and your partner will be asked to complete a genetic screening consent or waiver. This consent/waiver will need to be completed and genetic results returned (if desired) prior to initiating any treatment cycle at our facility.

Below is a partial listing of genetic tests that are available. Although all patients do not need to be tested for every available genetic disease, our practice will be recommending that all patients be screened for a specific panel of tests. This panel will screen for a variety of general population and ethnicity-based genetic disorders. This is due to the fact that many people know their primary ethnicity, but may be unaware of small aberrations in their genetic history. If you have additional questions after reviewing this information and the provided links, please contact our office to schedule a consult with your physician.

Inherited

A disease or characteristic that is transmitted through genes from parents to offspring. Inheritance patterns include the following:

Autosomal Dominant – Disorders caused by one mutated copy of a gene. An affected person usually has one affected parent. Autosomal dominant disorders usually occur in every generation of an affected family. When a person carries an autosomal dominant gene mutation, each of his/her offspring has a 50% chance for inheriting the gene mutation.

Autosomal Recessive – Disorders caused by two mutated copies of a gene. An affected person usually has unaffected parents who each carry one copy of the mutated gene. Autosomal recessive disorders are not usually seen in every generation of a family. Carrier parents have a 25% chance for having an affected child.

X-linked dominant – Disorders caused by mutations in genes located on the X chromosome. Females are more frequently affected than males, and the chance to pass on an X-linked dominant disorder differs between men and women. Fathers cannot pass the X-linked traits or disorders to their sons. Females who have an X-linked dominant gene mutation have a 50% chance to have an affected child.

Multifactorial – Disorders caused by a combination of the effects of multiple genes or by interactions between genes and the environment.

Blood

Sickle cell anemia - Sickle cell disease is a group of disorders that affects hemoglobin, the molecule in red blood cells that delivers oxygen to cells throughout the body. Individuals who have sickle cell disease have atypical hemoglobin molecules called hemoglobin S, which can distort red blood cells into a sickle, or crescent, shape. Signs and symptoms include a low number of red blood cells (anemia), repeated infections, and periodic episodes of pain. The severity of symptoms varies from person to person. Sickle cell anemia is inherited in an autosomal recessive manner. Each child of carrier parents has a 25% chance to be born with sickle cell anemia.

Tay-Sachs - Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in central nervous system (the brain and spinal cord). Affected infants progressively lose motor skills such as turning over, sitting, and crawling. Children who have the severe infantile form of Tay-Sachs disease usually survive only into early childhood. Tay-Sachs disease is inherited in an autosomal recessive manner. Carrier parents have a 25% in each pregnancy to have an affected child.

Thalassemia - Beta thalassemia is an inherited blood disorder that reduces the production of hemoglobin. Symptoms of beta thalassemia occur when not enough oxygen gets to various parts of the body due to low levels of hemoglobin and a shortage of red blood cells. Beta thalassemia is inherited in an autosomal recessive manner. Carrier parents have a 25% chance in each pregnancy to have an affected child.

Gastrointestinal

Cystic Fibrosis - Cystic fibrosis is an inherited disorder of the mucus glands that affects many body systems. The most common signs and symptoms of cystic fibrosis include progressive damage to the respiratory system and chronic digestive system problems. Cystic fibrosis is inherited in an autosomal recessive manner. Carrier parents have a 25% chance in each pregnancy for having an affected child.

Neurological

Gaucher Disease - Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. The signs and symptoms of this condition vary widely among affected individuals. There are several types of Gaucher disease based on their particular features. Some types do not affect the brain and spinal cord while others do. Type 1 Gaucher disease, for example, is the most common form of this disorder. Major signs and symptoms of Type 1 Gaucher disease include enlargement of the liver and spleen, a low number of red blood cells, easy bruising caused by a decrease in blood platelets, lung disease, and bone abnormalities such as bone pain, fractures, and arthritis. Types 2 and 3 Gaucher disease, on the other hand, have problems that affect the central nervous system. Gaucher disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. The parents each carry one copy of the mutated gene, but they do not show signs or symptoms of the disease.

Muscle/Bone Joint

Spinal muscular atrophy - Spinal muscular atrophy is a disorder that affects the control of muscle movement. It is caused by a loss of specialized nerve cells, (motor neurons), in the spinal cord and the part of the brain that is connected to the spinal cord (the brainstem). The loss of motor neurons leads to weakness and shrinkage of muscles used for activities such as crawling, walking, sitting up, and controlling head movement.

In severe cases of spinal muscular atrophy, the muscles used for breathing and swallowing are affected. There are a number of different subtypes of spinal muscular atrophy based on the age of onset and symptoms. Most types of spinal muscular atrophy are inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations. One type of spinal muscular atrophy is inherited in an autosomal dominant manner, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

Chromosomal Abnormalities

Fragile X syndrome - Fragile X syndrome is a genetic disorder that involves a range of developmental problems including learning disabilities and mental retardation, and behavioral problems such as hyperactive behavior and attention deficit disorder. Males are usually more severely affected by this disorder than females. Many males with fragile X syndrome have characteristic physical features that become more apparent with age such as a long and narrow face, large ears, prominent jaw and forehead, unusually flexible fingers, and enlarged testicles after puberty. Most cases of fragile X syndrome are caused by a mutation in which a DNA segment, known as the CGG triplet repeat, is expanded within the FMR1 gene. Fragile X syndrome is inherited in families in an X-linked dominant pattern.

Genetic History

Bloom syndrome - Bloom syndrome is an inherited disorder that is characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. Individuals who have Bloom syndrome are usually much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower jaw; and prominent nose and ears. They tend to develop pigmentation changes that often appear as a butterfly-shaped patch of reddened skin on the face. Other features of the Bloom syndrome may include learning disabilities, mental retardation, chronic lung problems, diabetes, and immune deficiency that leads to recurrent pneumonia and ear infections. Men with Bloom syndrome are usually not able to father children because they do not produce sperm. Women with the disorder generally experience menopause earlier than usual. Chromosome instability in Bloom syndrome also results in a high risk of cancer in affected individuals. Bloom syndrome is inherited in families in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Canavan disease - Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. The signs and symptoms of Canavan disease usually begin in early infancy; however, the course of the disorder can be quite variable. Infants with Canavan disease usually appear normal for the first few months of life. By age 3 to 5 months, these infants begin to have developmental delays in motor skills, weak muscle tone, large head size, and mental retardation. They may also develop feeding and swallowing difficulties, seizures, and sleep disturbances. Canavan disease is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Familial Dysautonomia - Familial dysautonomia is a genetic disorder that affects the development and survival of certain nerve cells. The disorder causes disturbances in autonomic nerve cells, which control involuntary actions such as digestion, breathing, production of tears, and the regulation of blood pressure and body temperature. It also affects activities related to the senses, such as taste and the perception of pain, heat, and cold. Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III. Problems related to this disorder first appear during infancy and include poor muscle tone, feeding difficulties, poor growth, lack of tears, frequent lung infections, and difficulty maintaining body temperature. Developmental delays in walking and speech, are usually present, although some affected individuals do not show signs of developmental delay. Familial dysautinomia is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Fanconi Anemia - Fanconi anemia is a rare, inherited blood disorder that causes bone marrow failure. Fanconi anemia causes the bone marrow to stop making enough new blood cells for the body to function normally. Infants born with Fanconi anemia are at higher risk for having birth defects. Fanconi anemia can also cause the bone marrow to make many abnormal blood cells, which can lead to serious health problems such as cancer. This condition is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have the mutations.

Niemann-Pick, Type A - Niemann-Pick disease is an inherited disorder that involves lipid metabolism - the breakdown, transport, and use of fats and cholesterol in the body. In affected individuals the abnormal lipid metabolism causes harmful amounts of lipids to accumulate in the spleen, liver, lungs, bone marrow, and brain. There are four main types of Niemann-Pick disease. Type A presents during infancy and is characterized by an enlarged liver and spleen, failure to thrive, and progressive deterioration of the nervous system. Children born with Niemann-Pick, Type A generally do not survive past early childhood. Nieman-Pick, Type A is inherited in an autosomal recessive pattern, which means both copies of the gene in each cell have mutations.

Mucolipidosis Type IV - Mucolipidosis Type IV is a genetic disorder, primarily which is characterized by severe neurological and ophthalmologic abnormalities. Also known as ML4, the disorder usually presents during the first year of life with mental retardation, corneal opacities, and delayed motor milestones. Children with ML4 begin to show signs of developmental delay during their first year of life. They usually attain a maximum developmental age of 15 months in language and motor function, although their receptive abilities are more advanced. They may also experience retinal degeneration that severely limits their vision. ML4 is inherited in an autosomal recessive pattern which means both copies of the gene in each cell have mutations.

For more detailed information about these and other genetic diseases please visit http://www.counsyl.com/diseases.

You may also download this list HERE.

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