As a lawyer practicing in the area of sperm bank litigation, I have, unfortunately,
represented too many couples that conceived a child with donor sperm that
was later born with a genetic disease that should have been caught. While
most Cryobanks represent that certain genetic testing is performed on
all donor sperm, in some cases, the testing is either not done at all,
done in error, or the results are improperly interpreted, thereby permitting
the semen of a donor who tested positive for a genetic trait to be released
to their clients seeking to conceive a child.
If you or a friend or family member conceived a child with donor sperm
and the child was born with a genetic disease, like Cystic Fibrosis, then
you may be entitled to substantial compensation to recover the life-long
medical care costs that you will incur to take care of the child. Please
feel free to contact me for a no-cost consultation about your individual scenario.
Dean Gresham, Esq.
Steckler Gresham Cochran PLLC
12720 Hillcrest Rd., Suite 1045
Dallas, Texas 75230
Every woman has a 3 to 4% chance to have a child with a birth defect, regardless
of whether she conceives naturally or uses assisted reproductive technologies.
It is not possible to eliminate these risks or test for all of them before
becoming pregnant. However, many Cryobanks perform some genetic testing
on the donor applicants as part of the donor qualification process.
While it is not possible to test any one person for every genetic disorder,
genetic testing is performed on donor applicants for a number of common
genetic disorders. Donor applicants who have an abnormal genetic test
result are not eligible to participate in a sperm donor program. Donor
applicants are eligible to participate only if they have negative genetic
test results. The genetic testing helps to reduce the risk for these specific
disorders in the donors’ offspring.
Some Cryobanks use practice guidelines developed by the American College
of Medical Genetics and Genomics (www.acmg.net), American College of Obstetrics and Gynecology (www.acog.org), and the American Society of Reproductive Medicine (www.asrm.org) to determine the best practices for performing genetic testing on anonymous
Currently, some Cryobanks perform testing on their donors for the following
Cystic fibrosis carrier screening
Cystic fibrosis is a chronic illness that typically involves severe lung
disease and gastrointestinal problems. People with CF often have a shortened
lifespan. Cystic fibrosis is inherited in an autosomal recessive manner
which means that both parents have to carry mutations for CF to be at
risk of having a child affected with this disorder. CF occurs most often
among individuals of Caucasian ancestry; approximately 1 out of every
25 healthy Northern European or Ashkenazi Jewish individuals carries a
mutation for CF. Carrier screening for cystic fibrosis is performed by
analyzing the donor's DNA for common mutations or changes in the gene
for CF. CF carrier screening is performed on all of CCB's sperm donor
applicants, regardless of the donor's ancestry.
Hemoglobin is the molecule that carries oxygen to the cells of our bodies.
Hemoglobin disorders are inherited in an autosomal recessive manner. This
means that a child must inherit mutations from both parents to be at risk
of developing a disorder such as alpha-thalassemia, beta-thalassemia,
or sickle cell anemia. A hemoglobin evaluation on our donor applicants
includes a complete blood count (CBC) which evaluates the size, shape,
and number of a person's blood cells. In addition, a test called a
hemoglobin fractionation is performed to detect many, but not all, clinically
significant differences in a person's hemoglobin.
Alpha-thalassemia and Beta-thalassemia
Individuals who are affected with thalassemia generally have severe anemia
and may require frequent blood transfusions and other medical interventions
over the course of their lifetimes. Some types of thalassemia may result
in a shortened lifespan; more severe forms may result in fetal demise
or death in infancy. Alpha-thalassemia occurs most often among individuals
of Asian or African ancestry. Beta-thalassemia (also known as Cooley's
anemia or Mediterranean anemia) occurs most often among people of Mediterranean descent.
Sickle cell anemia
Hemoglobin S is the hemoglobin that is found in abnormal amounts in a
person who is affected with sickle cell anemia. Sickle cell anemia causes
painful episodes of joint and bone pain and increased risks for strokes,
infections, and organ damage. Approximately 1out of every 10 individuals
of African descent carries a mutation for sickle cell anemia.
Chromosomes are the structures that carry our DNA. A chromosome analysis
looks at the number and the structure of an individual’s chromosomes.
Typically, an analysis of human chromosomes reveals a total of 46 chromosomes.
If a sperm donor applicant has an abnormal chromosome numbers or structure
he would not be eligible to participate in our program.
Spinal muscular atrophy (SMA) carrier screening
Spinal muscular atrophy is a progressive neuromuscular disease that results
in muscle wasting and, in its most common and severe form, death due to
respiratory failure before two years of age. SMA is inherited in an autosomal
recessive manner which means that both parents must be carriers of mutations
for SMA to be at risk of having a child affected with this disorder. Approximately
1 out of every 50 individuals in the general population carries a mutation
for SMA. California Cryobank began performing carrier screening for SMA
on all active sperm donors and donor applicants in August 2008.
Additional carrier screening performed on donors with Jewish ancestry
The following disorders occur most often among individuals of Ashkenazi
Jewish ancestry. Each of these conditions is inherited in an autosomal
recessive manner which means that both parents have to carry mutations
for the same condition to be at risk of having a child affected with that
disorder. Carrier screening for these conditions is performed by analyzing
the donor's DNA for common mutations that cause these conditions in
the Ashkenazi Jewish population.
Individuals affected with Bloom syndrome have growth problems, poor immune
system function, and a high rate of cancer. Most affected individuals
die from cancer before 30 years of age. The carrier frequency for Bloom
syndrome is approximately 1 in 100 among individuals with Ashkenazi Jewish
ancestry. California Cryobank began performing carrier screening for Bloom
syndrome on Jewish donors in August 2008.
Symptoms of Canavan disease vary from person to person and the onset of
symptoms can occur at different stages of life. The most common type occurs
in infancy, with death occurring in early childhood. Affected infants
have mental retardation, seizures, and other neuromuscular problems. The
carrier frequency for Canavan disease in the Ashkenazi Jewish population
is approximately 1 in 40.
Familial dysautonomia is a disorder of the nervous system, characterized
by insensitivity to pain, episodes of vomiting and sweating, and unstable
blood pressure and body temperature. In addition, people with familial
dysautonomia can have learning disabilities. The average life expectancy
for someone with familial dysautonomia is approximately 30 years. The
carrier frequency in the Ashkenazi Jewish population is approximately 1 in 30.
Fanconi anemia Type C
Symptoms of Fanconi anemia Type C include short stature, significant bone
marrow problems, and heart, kidney, gastrointestinal, spinal, or limb
defects. Lifespan may be shortened, as individuals with this condition
have an increased risk for leukemia and other cancers. The carrier frequency
in the Ashkenazi Jewish population is approximately1 in 89.
Symptoms of Gaucher disease include frequent fevers, bone pain and fractures,
problems with blood clotting, anemia, seizures, and enlargement of the
spleen and liver. The symptoms vary in age of onset and severity and may
result in a shortened lifespan. Treatment for Gaucher disease is currently
available for many affected individuals. The carrier frequency for Gaucher
disease in the Ashkenazi Jewish population is approximately 1 in 12.
Mucolipidosis Type IV
Mucolipidosis Type IV (MLIV) affects the development of the brain and
nervous system beginning in the first year of life. There is no treatment
for MLIV at this time. The carrier frequency for Mucolipidosis Type IV
in the Ashkenazi Jewish population is approximately 1 in 120. California
Cryobank began performing carrier screening for MLIV on Jewish donors
in August 2008.
Niemann-Pick Disease Type A/B
Individuals with Niemann-Pick disease Type A/B have enlargement of the
liver and spleen with rapid neurological deterioration and death typically
occurring by age 4. The carrier frequency for Niemann-Pick disease in
the Ashkenazi Jewish population is approximately 1 in 90.
Tay-Sachs disease (TSD)
Tay-Sachs disease is a progressive neurological disorder that begins in
infancy with the loss of developmental milestones and typically results
in death by age 5. Tay-Sachs disease occurs most often among individuals
with Ashkenazi Jewish or French Canadian ancestry. Approximately 1 out
of every 30 individuals of Ashkenazi Jewish ancestry carries a mutation
for TSD. Routine carrier screening for TSD is performed by enzyme analysis:
carrier screening by DNA analysis was added in November 2013.
Expanded Jewish screening panel
In November 2013, California Cryobank started performing carrier screening
for the following conditions on donors with Jewish ancestry. Please see the
Genetic Test Summary (GTS) for the specific donors in which you are interested to confirm which tests
were performed on an individual donor.
Dihydrolipoamide dehydrogenase deficiency (DLD):
Dihydrolipoamide dehydrogenase deficiency can vary widely among affected
individuals but common features include recurrent vomiting and abdominal
pain, seizures, decreased muscle tone, lethargy, and can be life-threatening.
The carrier frequency for DLD is approximately 1 in 107 among individuals
of Ashkenazi Jewish ancestry.
Individuals with familial hyperinsulinism produce too much insulin which
can lead to lethargy, low muscle tone, and episodes of hypoglycemia. If
untreated it can cause serious complications such as seizures, brain damage
and can be life threatening. The carrier frequency for familial hyperinsulinism
among the Ashkenazi population is approximately 1 in 68.
Glycogen storage disease type 1a
Individuals with glycogen storage disease type 1a (GSD1a) may have low
blood sugar, enlarged livers, seizures and kidney disease. The carrier
frequency for GSD1a in the Ashkenazi population is approximately 1 in 64.
Joubert syndrome Type 2:
Joubert syndrome affects many parts of the body and includes symptoms
such as jerky eye movements, abnormal breathing pattern, renal and liver
disease and developmental delay. The carrier frequency for Joubert syndrome
type 2 is 1 in 92 among Ashkenazi individuals.
Maple syrup urine disease, Type A/B (MSUD):
This condition gets its name from the distinctive sweet odor of an affected
child’s urine and is characterized by poor feeding, lethargy, and
developmental delay. The carrier frequency is 1 in 97 among the Ashkenazi
Nemaline myopathy is a disorder that mainly affects the skeletal muscle
leading to weakness and poor muscle tone. The condition typically progresses
over time and can lead to respiratory failure in severe cases. The carrier
frequency within the Ashkenazi population is approximately 1 in 168.
Usher syndrome Type 1F:
Individuals with Usher syndrome Type 1F have profound deafness at birth
and a gradual loss of vision beginning in adolescence. They also have
trouble with balance which can cause delayed motor skills. The carrier
frequency is 1 in 147 within the Ashkenazi population.
Usher syndrome Type III:
Usher syndrome Type III leads to progressive hearing loss that typically
starts in adolescence. The rate at which hearing and vision decline can
vary from person to person. It has a carrier frequency of 1 in 120 in
Considered a congenital muscular dystrophy, individuals with Walker-Warburg
have low muscle tone, brain abnormalities leading to global developmental
delays and eye malformations. Most affected individuals do not survive
past age 3. The carrier frequency among Ashkenazi Jewish individuals is 1 in 150.