Before beginning any treatment program at the Center for Reproductive Medicine, you and your partner will be asked to complete a genetic screening consent or waiver to detect potential conditions or diseases that could be inherited by your future children.

Not every patient needs to be tested for every possible genetic disease, but we do recommend that all patients take a specific panel of tests to screen for a variety of general population and ethnicity-based genetic disorders. (This is because many people know their primary ethnicity but may be unaware of small aberrations in their genetic history.)

Our genetic screening options cover:

Inherited disorders

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

Autosomal dominant disorders

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

Autosomal recessive disorders

These are 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. Carrier parents have a 25% chance of having an affected child. Autosomal recessive disorders are not usually seen in every generation of a family.

X-linked dominant disorders

These are disorders caused by mutations in genes located on the X chromosome. The chance of passing on an X-linked dominant disorder differs between men and women. Females are more frequently affected than males, and those with an X-linked dominant gene mutation have a 50% chance of having an affected child. Males cannot pass the X-linked traits or disorders to their sons.

Multifactorial disorders

These are disorders caused by a combination of the effects of multiple genes or by interactions between genes and the environment.

Blood disorders

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 vary from person to person but typically include a low number of red blood cells (anemia), repeated infections and periodic episodes of pain. Sickle cell anemia is inherited in an autosomal recessive manner. Each child of carrier parents has a 25% chance of being born with sickle cell anemia.

Tay-Sachs disease

Tay-Sachs disease is a rare inherited disorder that causes progressive destruction of nerve cells in the central nervous system (the brain and spinal cord). Affected infants progressively lose motor skills such as turning over, sitting and crawling, and children with 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% chance in each pregnancy of having 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 of having an affected child.

Gastrointestinal disorders

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 of having an affected child.

Neurological disorders

Gaucher disease

Gaucher disease is an inherited disorder that affects many of the body's organs and tissues. There are several types of Gaucher disease with varying signs and symptoms. Type 1 Gaucher disease is the most common form of this disorder, with symptoms like 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.

Muscle/bone/joint disorders

Spinal muscular atrophy

Spinal muscular atrophy is a disorder that affects the control of muscle movement. It is caused by a loss of motor neurons (specialized nerve cells) in the spinal cord and the brainstem (the part of the brain that is connected to the spinal cord). This loss of motor neurons leads to weakness and shrinkage of the muscles used for activities like 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, though one type is inherited in an autosomal dominant manner.

Chromosomal abnormalities

Fragile X syndrome

Fragile X syndrome is a genetic disorder that involves a range of developmental problems including intellectual disabilities, learning disabilities, 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. Fragile X syndrome is inherited in families in an X-linked dominant pattern.

Genetic history

Bloom syndrome

Bloom syndrome is an inherited disorder characterized by a high frequency of breaks and rearrangements in an affected person's chromosomes. Individuals with 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, as well as reddened skin on the face. Other features of Bloom syndrome may include intellectual disabilities, learning disabilities, 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.

Canavan disease

Canavan disease is an inherited disorder that causes progressive damage to nerve cells in the brain. Though the course of the disorder can vary widely, the signs and symptoms of Canavan disease usually begin in early infancy; by three to five months, affected infants begin to show developmental delays in motor skills, weak muscle tone, large head size and intellectual disabilities. They may also develop feeding and swallowing difficulties, seizures, and sleep disturbances. Canavan disease is inherited in an autosomal recessive pattern.

Familial dysautonomia

Familial dysautonomia (also referred to as hereditary sensory and autonomic neuropathy, type III) is a genetic disorder that affects the development and survival of 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.

Symptoms 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 may also be present. Familial dysautonomia is inherited in an autosomal recessive pattern.

Fanconi anemia

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

Niemann-Pick, Type A

Niemann-Pick disease is an inherited disorder that causes abnormal lipid metabolism, which allows 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.

Mucolipidosis Type IV

Mucolipidosis Type IV is a genetic disorder characterized by severe neurological and ophthalmologic abnormalities. Also known as ML4, the disorder usually presents during the first year of life with intellectual disabilities, 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.

Conditions that can be identified with genetic screening

• Inherited disorders, which are transmitted through genes from parents to their children
• Blood disorders, like sickle cell anemia, Tay-Sachs disease or beta thalassemia
• Gastrointestinal disorders, such as cystic fibrosis
• Neurological disorders, like Gaucher disease
• Muscle/bone/joint disorder, such as spinal muscular atrophy
• Chromosomal abnormalities, like Fragile X syndrome