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Down Syndrome

Information About Down Syndrome and Possible Misdiagnosis

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 mental retardation 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.

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.

Your Rights in the Event of a Down Syndrome Prenatal Misdiagnosis

In order to recover, 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 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 with top rated medical malpractice law firms nationwide in pursuing cases.

Common mistakes made in prenatal misdiagnosis of 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

What to Do After 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 did not learn of this diagnosis in time to exercise a choice as to whether to continue the pregnancy, 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.

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 attorneys at Weiss & Paarz, P.C., today.