Down Syndrome

What is Down Syndrome?

Down syndrome is a genetic disorder that includes a combination of birth defects. Persons with Down syndrome have some degree of intellectual disability and characteristic facial features. Often, heart defects and other problems are present. It is one of the most common genetic birth defects, affecting approximately 1 in 800 babies. Chromosomes are the structures in cells that contain the genes. Down syndrome is caused by extra genetic material from chromosome 21. Affected persons have two normal copies of number 21 chromosomes, plus extra chromosome number 21 material attached to another chromosome. For that reason, Down syndrome is sometimes referred to as Trisomy 21.

Due to medical advances over the last 25 years, doctors can screen for and often determine how Down syndrome during early pregnancy through prenatal screening and diagnostic testing. This means testing in the first or second trimester can provide parents with important information about their baby. However, when testing is not offered in a timely manner, or when results are inaccurate or misinterpreted, it can lead to Down syndrome misdiagnosis, affecting parents’ ability to make informed decisions about whether to continue the pregnancy.

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Types of Down Syndrome:

Down syndrome is primarily categorized into three distinct types:

• Trisomy 21: This is the most prevalent form of Down syndrome, accounting for the majority of cases. It arises from an individual having an extra copy of chromosome 21 in every cell, resulting in a total of three copies instead of the usual two.
• Mosaic Down Syndrome: In this variant, not all cells in the body possess an extra copy of chromosome 21. Some cells have the typical two copies, while others carry the extra chromosome. This mosaic pattern of genetic makeup can lead to a wide range of cognitive and physical abilities among individuals with mosaic Down syndrome.
• Translocation Down Syndrome: Unlike the other forms, translocation Down syndrome occurs when a portion of chromosome 21 becomes attached or fused to another chromosome, typically chromosome 14. This specific type may be inherited from a parent who carries the translocated chromosome, making it distinct in terms of its genetic inheritance pattern.

Complications Associated with Down Syndrome

Down syndrome, while not inherently life-threatening, can bring about a range of physical complications that necessitate careful attention and medical management. These complications may include:

• Congenital Heart Defects: Some individuals with Down syndrome are born with congenital heart defects that may require surgical intervention to correct.
• Sleep Apnea: Sleep apnea is a common concern among those with Down syndrome, leading to interrupted breathing during sleep and potential sleep disturbances.
• Respiratory Issues: Abnormalities in the trachea and esophagus can give rise to respiratory challenges, making individuals with Down syndrome more susceptible to respiratory infections.
• Gastrointestinal Problems: Gastrointestinal issues, ranging from heartburn to abnormalities in the intestines and anus, can occur in individuals with Down syndrome.
• Increased Risk of Infections: Individuals with Down syndrome may have a higher risk of autoimmune diseases and infections due to immune system differences.
• Elevated Risk of Leukemia: There is an increased risk of developing leukemia, a type of blood cancer, among individuals with Down syndrome.
• Seizures: Some individuals with Down syndrome may experience seizures, which require medical evaluation and management.
• Obesity: Obesity can be a concern, and individuals with Down syndrome may benefit from dietary and exercise interventions to maintain a healthy weight.
• Hearing and Vision Problems: Hearing and vision issues are common in those with Down syndrome and require ongoing monitoring and treatment.

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Prenatal Testing of Down Syndrome

It is common practice in the United States for obstetricians to offer or discuss the options for prenatal testing for Down syndrome with every pregnant patient, regardless of age or family history. Down syndrome prenatal screening tests can be used alone or in combination:

• Nuchal Translucency or First Trimester Screening
  • Between 11 and 13 weeks, an ultrasound examination measures the fluid that accumulates in the back of the neck of the fetus, just under the skin. There is a strong association between the thickening of the neck in this area and the risk of Down syndrome. This test in combination with a blood test in the first trimester can be highly effective in detecting an affected fetus.
• Quadruple screen
  • At 16 to 18 weeks gestation, blood is drawn from the mother and analyzed for the presence of four substances: AFP (alpha-fetoprotein), hCG (human chronionic gonadotropin), UE3 (estriol) and inhibin A. Levels that are abnormal are associated with an increased risk of Down syndrome and certain other disorders. If the quadruple screen result is abnormal, patients must be offered further testing, such as amniocentesis or targeted ultrasound, so that a diagnosis can be made with certainty.
• Ultrasound
  • At 16 to 22 weeks gestation, a standard ultrasound examination is performed to survey the fetal anatomy. At that time, the fetal head (brain) and neck, heart, abdomen (stomach, kidneys, bladder), spine and limbs are carefully examined for evidence of abnormalities. It is important that this examination be performed by a qualified, well trained medical professional who is familiar with accepted standards of care. Evidence of a wide range of fetal abnormalities can often be detected with a competent and thorough examination, including findings associated with Down syndrome.
• Cell-free DNA Testing
  • As early as 10 weeks gestation, blood is drawn from the mother and analyzed for the presence of an increased amount of abnormal fetal chromosomes, including chromosome 21, which is associated with  Down syndrome.   In December, 2012, the American College of Obstetricians and Gynecologists and the Society for Maternal-Fetal Medicine issued a joint committee opinion supporting Cell-free DNA testing as a screening test for women at increased risk for having a baby with a chromosomal abnormality, but only if genetic counseling is included to advise women of the test’s limitations (it is not as accurate as diagnostic testing such as amniocentesis, and covers less genetic disorders) along with other available options.

Limitations of Prenatal Testing and Risk of Misdiagnosis

Although prenatal screening and diagnostic tests are widely used to detect Down syndrome during pregnancy, no test is completely error-free. A failure to offer testing in a timely manner, false negatives, false positives, failures in follow-up testing, and misinterpretation of results can all contribute to a Down syndrome misdiagnosis. When testing errors prevent parents from learning of a fetal condition in time to make informed decisions, the consequences can be life-altering for both the family and the child.

Legal Rights for Misdiagnosed Down Syndrome During Pregnancy and Birth

To recover compensation in a Down syndrome misdiagnosis case (within select states such as New Jersey where this cause of action is permitted), parents generally must prove that a medical provider’s negligence prevented them from learning that there was an increased risk that the fetus had a significant birth defect or genetic condition. They must also establish that they would likely have terminated the pregnancy had they been advised of the problem by a certain gestational age. In doing so, they are not in any way calling into question their love and devotion to their child – that relationship has already been established and will continue forever. Instead, they are merely acknowledging that if told of the defect or disease during the pregnancy, they would have likely chosen not to undertake the financial and emotional issues involved in parenting a child with a significant lifelong disability.

The New Jersey Supreme Court has held that if a prenatal misdiagnosis claim is established, the negligent medical provider must provide compensation for the extraordinary expenses related to the child’s condition over the child’s lifetime. In addition, compensation must be provided to the parents for any emotional injury experienced in parenting a child with special needs.  Prenatal misdiagnosis claims – which are sometimes referred to as “wrongful birth” cases – are permitted to varying degrees in some states and are not permitted in other states.  The law firm of Weiss & Paarz works with top-rated medical malpractice law firms nationwide in pursuing these extremely specialized and complex cases.

Common Mistakes Made in Prenatal Misdiagnosed Down Syndrome Cases:

Prenatal misdiagnosis claims involving a Down syndrome child require a thorough investigation as to whether or not a medical provider was negligent. Mistakes in such cases include but are not limited to:

• Failure to take a competent and thorough genetic screening history of both parents
• Failure to recommend or perform genetic counseling
• Failure to discuss the availability of appropriate testing at the appropriate gestational age
• Improper information provided to laboratory conducting prenatal testing
• Improper interpretation of prenatal screening testing by laboratory
• Improper interpretation of prenatal screening results by obstetrical care providers
• Misplaced or overlooked prenatal screening results by obstetrical care providers
• Improperly dated pregnancies
• Inadequately performed or interpreted ultrasound testing

Legal Steps Following a Down Syndrome Misdiagnosis

Unfortunately, children with Down syndrome typically require lifelong medical care, specialized education, and ongoing support. It is in a child’s best interests to have access to the most advanced treatment options and educational services available. However, there can be a significant gap between the care covered by private insurance, public school systems, or programs such as Medicaid, and the highest standard of state-of-the-art treatment.

If your child has Down syndrome and you were not informed of the diagnosis during pregnancy due to a Down syndrome misdiagnosis, you may have lost the opportunity to make fully informed decisions about your pregnancy. In these situations, pursuing a legal claim may be the only way to secure the financial resources necessary to provide your child with the best possible care and long-term support.

Weiss & Paarz for Your Down Syndrome Misdiagnosis Cases

New Jersey medical malpractice lawyers Michael L. Weiss, Esq. and Robert E. Paarz, Esq. have presented Down syndrome prenatal misdiagnosis cases to juries, helping many families obtain the financial assistance needed to lessen or eliminate the financial burden caused by Down syndrome and other genetic disorders. They are committed to using their knowledge and experience to help families that have been negligently deprived of their constitutional right to choose whether to continue a pregnancy involving an affected fetus obtain fair compensation.  Although based in New Jersey, the firm affiliates with top rated medical malpractice law firms nationwide in pursuing cases.

If you would like to discuss the possibility of pursuing a claim, contact the Down syndrome misdiagnosis lawyers at Weiss & Paarz, P.C. today.

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