Down Syndrome and Medical Negligence in Chicago
Down syndrome is a genetic condition involving additional material from chromosome 21. The extra genetic material affects how the brain and body develop, but its effects vary considerably from one person to another.
Some people with Down syndrome have significant medical or developmental needs. Others have fewer health complications and live with substantial independence. Each child has an individual combination of abilities, personality, health needs, and support requirements.
Down syndrome is not caused by medical malpractice. It generally results from a chromosomal change that occurs before conception or during early cell division. A doctor does not cause the condition merely because it was not prevented or discovered before birth.
A legal issue may arise in limited circumstances involving a specific error in prenatal screening, diagnostic testing, laboratory handling, genetic counseling, interpretation of results, or communication of important information.
Free legal evaluation: If your concern involves a particular prenatal testing or communication error rather than the diagnosis alone, contact Sexner Injury Lawyers LLC or call (312) 243-9922.
What Is Down Syndrome?
Human cells ordinarily contain 23 pairs of chromosomes. Down syndrome occurs when a person has an additional complete or partial copy of chromosome 21.
The three principal forms are:
- Trisomy 21: Each cell generally contains three separate copies of chromosome 21. This is the most common form.
- Translocation Down syndrome: Additional chromosome 21 material is attached to another chromosome.
- Mosaic Down syndrome: Some cells contain the additional chromosome material while other cells have the usual number of chromosomes.
Most cases are not inherited. Translocation Down syndrome can sometimes involve a chromosomal arrangement inherited from a parent, which may lead a provider to recommend genetic counseling or parental chromosome testing.
General medical information is available from the Centers for Disease Control and Prevention.
Health and Development Vary Among Individuals
Down syndrome affects each person differently. Development may proceed more slowly in areas such as speech, movement, learning, and independent living, but no prenatal test can predict a child’s exact abilities, personality, medical needs, or future quality of life.
Medical conditions seen more frequently among people with Down syndrome include:
- Congenital heart defects
- Hearing loss and recurring ear infections
- Vision problems
- Obstructive sleep apnea
- Thyroid disease
- Gastrointestinal abnormalities, including Hirschsprung disease or intestinal blockage
- Low muscle tone and loose joints
- Certain blood disorders and an increased risk of leukemia
The presence of Down syndrome does not mean that a person will develop every associated condition. Appropriate medical monitoring, early-intervention services, education, therapy, and family support can promote health and development.
Physical Features
Physical characteristics commonly associated with Down syndrome may include:
- A flatter facial profile or nasal bridge
- Eyes that angle upward
- A shorter neck
- Smaller ears, hands, and feet
- A single crease across the palm
- Lower muscle tone
- Loose or flexible joints
- Shorter-than-average height
These characteristics differ among individuals and do not determine intelligence, personality, abilities, or long-term independence.
Risk Factors
The likelihood of a pregnancy involving Down syndrome increases with maternal age, particularly after age 35. However, babies with Down syndrome are also born to younger mothers.
Other considerations may include:
- A previous pregnancy involving Down syndrome
- A child with Down syndrome
- A parent carrying a balanced chromosome 21 translocation
- A family history that may justify genetic evaluation
A risk factor does not mean that a pregnancy is affected. Prenatal testing is needed to estimate probability or establish a diagnosis.
Screening and Diagnostic Tests Are Different
One of the most important corrections to the prior page is the distinction between a screening result and a diagnosis.
Prenatal Screening Tests
Screening tests estimate whether the pregnancy has a higher or lower probability of Down syndrome. They do not prove that the fetus has or does not have the condition.
Available screening approaches may include:
- Cell-free DNA screening: A maternal blood test that evaluates placental DNA fragments and estimates the probability of trisomy 21 and certain other chromosomal conditions.
- First-trimester screening: A combination of maternal blood testing and an ultrasound measurement of fluid at the back of the fetal neck.
- Second-trimester serum screening: A blood test, sometimes called the quad screen, that estimates the probability of Down syndrome and other conditions.
- Ultrasound findings: Certain structural findings or markers may increase concern, but an ultrasound by itself does not ordinarily confirm Down syndrome.
Cell-free DNA is a highly accurate screening method, but it remains a screening test. A positive result can occur when the fetus does not have Down syndrome, and a negative result cannot completely eliminate the possibility.
Diagnostic Tests
Diagnostic testing examines fetal or placental cells and can determine with much greater certainty whether the chromosome change is present.
- Chorionic villus sampling: Placental tissue is obtained, generally during the first trimester, for chromosome analysis.
- Amniocentesis: A sample of amniotic fluid containing fetal cells is obtained, generally during the second trimester.
These procedures are more definitive than screening, but they are invasive and carry a small risk of complications. The patient should receive accurate information about their benefits, limitations, timing, and risks before making a decision.
Additional information about the distinction between screening and diagnosis is available from MedlinePlus.
Testing Should Involve an Informed Choice
Prenatal screening and diagnostic options should be discussed and offered regardless of maternal age or initial risk level. The patient may choose to accept or decline screening, proceed directly to diagnostic testing, or make another informed decision after counseling.
Medical providers should explain:
- Which tests are available
- Whether the test is screening or diagnostic
- What conditions the test evaluates
- When it should be performed
- The possibility of false-positive or false-negative screening results
- Whether a result requires confirmation
- The risks of an invasive procedure
- How long results may take
Genetic counseling may be especially helpful after a positive or uncertain result, when a chromosome translocation is suspected, or when the patient is considering diagnostic testing.
Diagnosis After Birth
A medical provider may initially suspect Down syndrome because of physical findings observed after delivery. A blood test called a karyotype can then examine the baby’s chromosomes and confirm the diagnosis.
After confirmation, the child may need evaluations for heart defects, hearing, vision, thyroid function, feeding, blood abnormalities, and other associated conditions. Early-intervention services may include physical, occupational, developmental, and speech therapy.
A Child Born After Screening Was Not Necessarily Misdiagnosed
The birth of a child with Down syndrome after a negative screening result does not automatically mean that anyone committed malpractice. Screening tests are designed to estimate probability rather than guarantee an outcome.
A legal review may need to determine:
- Which test was ordered
- Whether it was performed at the appropriate stage of pregnancy
- Whether accurate patient and pregnancy information was provided to the laboratory
- Whether the specimen was properly collected, identified, transported, and analyzed
- Whether the result was interpreted correctly
- Whether its limitations were explained
- Whether medically appropriate follow-up was offered
When Could Medical Negligence Be Relevant?
A potential claim generally requires more than the fact that Down syndrome was not identified before birth. Qualified experts must determine that the provider departed from the applicable standard of care and that the failure caused legally recognized harm.
Failure to Discuss Available Testing
A review may be appropriate when a provider failed to discuss screening or diagnostic options that should reasonably have been offered under the circumstances, or provided materially inaccurate information that prevented an informed decision.
Testing or Laboratory Errors
Potential issues may include:
- Using incorrect pregnancy dates when calculating a screening result
- Providing incorrect demographic or medical information to the laboratory
- Collecting a specimen improperly
- Mislabelling, losing, contaminating, or switching a sample
- Incorrect laboratory analysis or reporting
- Misinterpreting a screening or diagnostic result
Failure to Follow Up or Communicate
A legal review may also examine whether:
- A positive or abnormal screening result was overlooked
- The patient was not told about an important result
- Confirmatory testing was not discussed after a positive screen
- A relevant ultrasound finding was ignored
- A referral for genetic counseling or maternal-fetal medicine was unreasonably delayed
- The patient was incorrectly told that a screening result was a definitive diagnosis
These issues may overlap with a broader diagnostic-error claim.
Wrongful Birth and Wrongful Life Are Not the Same
Illinois law distinguishes a parental wrongful-birth claim from a wrongful-life claim brought on behalf of the child. These terms should not be used interchangeably.
A potential wrongful-birth claim may allege that negligent testing, counseling, interpretation, or communication deprived the parents of accurate prenatal information and the opportunity to make an informed decision.
Such a claim does not ordinarily allege that the healthcare provider caused Down syndrome. Whether a viable claim exists depends on the medical evidence, what information should have been provided, the parents’ testimony, causation, damages, and Illinois law.
Records Used to Evaluate a Potential Case
A medical and legal review may require:
- Prenatal and obstetric records
- Pregnancy-dating information
- Screening-test orders and results
- Cell-free DNA laboratory records
- Ultrasound reports and original images
- Chorionic villus sampling or amniocentesis records
- Chromosome-analysis and karyotype reports
- Genetic-counseling documentation
- Laboratory specimen-tracking records
- Patient-portal messages and telephone notes
- Records showing when and how results were communicated
Contact Sexner Injury Lawyers LLC
Most families of children with Down syndrome do not have a medical malpractice claim. A legal evaluation may be appropriate when there is a specific concern involving failure to discuss testing, mishandled specimens, incorrect laboratory results, failure to communicate an abnormal finding, or failure to offer appropriate follow-up.
Contact Sexner Injury Lawyers LLC or call (312) 243-9922 for a free and confidential evaluation. We will explain honestly whether the circumstances appear to justify further investigation.
