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, it is often possible to discover during early pregnancy whether or not the fetus is affected with Down syndrome. This can allow parents the opportunity to choose whether or not to continue with the pregnancy.
Types of Down Syndrome:
In this section, we will explore the various types of Down syndrome, each with its distinctive genetic characteristics. 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.
Prenatal Testing of Down Syndrome
It is widely accepted throughout the United States that obstetricians must now offer or discuss the availability of prenatal testing for Down syndrome with every pregnant patient, regardless of age or family history, which 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.
Legal Rights for Misdiagnosed Down Syndrome During Pregnancy and Birth
In order to recover compensation from a Down syndrome misdiagnosis, parents generally must prove that a medical providers’ 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. 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 Down syndrome 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 Down syndrome 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 has a unique and special expertise in this complex area of medical malpractice and as a result, works with top rated medical malpractice law firms nationwide in pursuing this type of case.
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, Down Syndrome children will typically require a lifetime of special care and education. It is obviously in such children’s interests to be in a position to benefit from the very best and most advanced treatment and educational modalities available. There may be a significant difference in the treatment and services that private medical insurance, a public school system, or such programs as Medicaid will cover, and the most desirable state of the art treatment. If your child has Down syndrome and you were unable to make an informed decision about continuing the pregnancy due to a misdiagnosis, you may be entitled to compensation. Proceeding with a claim may be the only way to ensure your child has the financial resources to access the best available care.
Frequently Asked Questions about Down Syndrome Misdiagnosis
How common is Down syndrome?
Down syndrome is relatively common, occurring in approximately 1 in every 800 live births. It is one of the most prevalent genetic birth defects globally.
How does Down syndrome go undiagnosed during birth?
Down syndrome can sometimes go undiagnosed at birth due to various factors, including limited prenatal testing, insufficient awareness, or subtle physical characteristics that may not immediately raise concerns.
How often does Down syndrome go undiagnosed at birth?
The rate of undiagnosed Down syndrome cases at birth can vary. It depends on the effectiveness of prenatal screening and the level of medical care provided during pregnancy. The incidence of missed diagnoses is not as uncommon as one might think, emphasizing the importance of vigilant prenatal care.
Why Should I Consult a Down Syndrome Lawyer?
Consulting a Down syndrome lawyer is crucial if you suspect your child’s condition was misdiagnosed during pregnancy or birth. These specialized attorneys can help you understand your legal rights, including the potential for compensation, and guide you through the complex legal process to get justice.
Is Compensation Available for Misdiagnosed Down Syndrome?
Yes, compensation may be available in cases of misdiagnosed Down syndrome during pregnancy. If medical negligence led to the failure to detect or properly communicate a Down syndrome diagnosis, you may have a legal basis for seeking compensation to cover the extraordinary expenses associated with raising a child with special needs. An experienced Down syndrome lawyer can evaluate your case and advise you on your legal options.
What can cause a false positive for Down syndrome?
False positives can happen if screening tests misinterpret factors like an extra chromosome in some but not all fetal cells (mosaicism). Rare maternal conditions, such as vanishing twin syndrome or confined placental mosaicism, can also lead to inaccurate results. Confirmatory diagnostic testing is essential after any positive screening.
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.