Genetic Testing Errors: Wrongful Birth and Misdiagnosis in NY

What Is Genetic Testing?

Genetic testing during pregnancy involves analyzing the DNA of the fetus (or embryos during IVF) to detect chromosomal abnormalities and genetic conditions. Common types of prenatal genetic testing include:

- Non-invasive prenatal testing (NIPT): A blood test from the mother that analyzes fetal DNA circulating in the maternal bloodstream. Screens for common chromosomal conditions: Down syndrome (trisomy 21), Edwards syndrome (trisomy 18), Patau syndrome (trisomy 13), and sex chromosome abnormalities. [Link to: /birth-injury/prenatal-screening-negligence]

- First trimester screening: Combines blood tests and ultrasound (nuchal translucency) to assess the risk of chromosomal conditions.

- Chorionic villus sampling (CVS): A diagnostic procedure (performed at 10-13 weeks) that takes a sample of placental tissue for genetic analysis.

- Amniocentesis: A diagnostic procedure (performed at 15-20 weeks) that takes a sample of amniotic fluid for genetic analysis.

- Carrier screening: Testing parents before or during pregnancy to determine if they carry genes for specific conditions (cystic fibrosis, sickle cell disease, Tay-Sachs, spinal muscular atrophy, fragile X, and others).

- Preimplantation genetic testing (PGT): Testing embryos during IVF before implantation — to select embryos without specific genetic conditions.

- For families with a known genetic condition, targeted testing for that specific condition.

Types of Genetic Testing Errors

Genetic testing errors can occur at several stages:

• Pre-analytical errors: Sample mix-up (labeling the sample with the wrong patient's name), improper collection, or improper storage/transport.
• Analytical errors: Equipment malfunction, reagent errors, contamination, or technician error during the genetic analysis. This can produce false results — a false negative (the test misses a condition that is present) or a false positive (the test detects a condition that is not present).
• Interpretation errors: The geneticist or laboratory director misinterprets the results — particularly in complex cases with ambiguous findings (variants of uncertain significance, mosaic patterns, or rare conditions).
• Reporting errors: Transcription errors (entering the wrong results), reporting results to the wrong patient, or failure to communicate results to the ordering physician.
• Failure to offer appropriate testing: The healthcare provider fails to offer genetic testing when it is indicated — based on maternal age, family history, abnormal screening results, or ethnic background.
• Failure to counsel: The provider fails to adequately counsel the patient about the risks, benefits, limitations, and alternatives to genetic testing — or fails to obtain proper informed consent.
• Failure to communicate results: Abnormal results are not communicated to the patient in a timely or accurate manner. [Link to: /delayed-diagnosis-lawyer/failure-to-follow-up]

Wrongful Birth Claims

A wrongful birth claim is brought by the parents of a child born with a severe genetic condition. The claim asserts that the parents were denied the opportunity to make an informed decision about their pregnancy — specifically, the opportunity to terminate the pregnancy — because of a genetic testing error.

Elements of a wrongful birth claim: 1. The healthcare provider or laboratory was negligent — in performing, interpreting, or communicating the genetic test. 2. The negligence caused the parents to be misinformed — they were told the fetus did not have the condition (false negative) or were not offered testing. 3. The parents would have terminated the pregnancy if they had been properly informed. 4. The child was born with a severe genetic condition — causing extraordinary medical and care expenses.

Damages in wrongful birth claims: - Medical expenses related to the child's genetic condition — past and future. - Special education and therapy expenses. - Assistive equipment and home modifications. - In-home care and assistance. - Emotional distress of the parents.

New York recognizes wrongful birth claims — allowing parents to recover the extraordinary costs of raising a child with a severe genetic condition that they would not have had if properly informed. [Link to: /medical-malpractice/hysterectomy-gynecological-malpractice]

Wrongful Life Claims

A wrongful life claim is brought by the child — asserting that the child should not have been born. The claim is similar to wrongful birth but is brought from the child's perspective.

New York does not recognize wrongful life claims. The New York Court of Appeals, in Becker v. Schwartz (1978), held that a child cannot recover damages for being born — even if the birth resulted from medical negligence. The court reasoned that life, even with a severe disability, cannot be considered a legal injury.

However, the child may have separate claims for their own medical malpractice injuries — if the genetic testing error caused a delay in treatment that worsened the child's condition (e.g., a condition that could have been treated in utero or immediately after birth). These claims are separate from wrongful life and may be pursued on the child's behalf.

While the child cannot bring a wrongful life claim, the parents' wrongful birth claim can provide substantial compensation for the costs of caring for the child with a severe genetic condition.

When Genetic Testing Errors Constitute Malpractice

Genetic testing errors constitute medical malpractice when:

- The laboratory failed to meet the standard of care in performing or interpreting the genetic test — sample mix-up, analytical error, or interpretation error. [Link to: /misdiagnosis/lab-errors] - The healthcare provider failed to offer appropriate genetic testing when it was indicated — based on maternal age (≥35 for chromosomal conditions), family history, abnormal screening results, or ethnic background. - The provider failed to obtain proper informed consent — not adequately explaining the risks, benefits, limitations, and alternatives to genetic testing. - The provider failed to communicate results accurately and in a timely manner. - The provider failed to counsel the patient about the implications of abnormal results — including the option to terminate the pregnancy. - The provider failed to refer to a genetic counselor or maternal-fetal medicine specialist for complex cases.

To prove malpractice, expert testimony from a medical geneticist, genetic counselor, or laboratory medicine specialist is required.

The Standard of Care for Genetic Testing

The standard of care for prenatal genetic testing is established by the American College of Obstetricians and Gynecologists (ACOG), the American College of Medical Genetics and Genomics (ACMG), and professional genetic counseling organizations. Key elements include:

1. Offering screening to all pregnant women: ACOG recommends that all pregnant women, regardless of age, be offered screening for chromosomal conditions (NIPT or first trimester screening).

2. Offering diagnostic testing based on risk: Diagnostic testing (CVS or amniocentesis) should be offered to women at higher risk — based on age, family history, abnormal screening results, or ultrasound findings.

3. Carrier screening: Based on ethnic background, family history, and the specific conditions that are more common in certain populations.

4. Informed consent: The patient must be adequately informed about the risks, benefits, limitations, and alternatives to genetic testing — including that screening tests have false positives and false negatives, and that diagnostic tests carry a small risk of miscarriage.

5. Genetic counseling: Patients should receive genetic counseling before and after testing — to understand the results and their implications.

6. Accurate laboratory testing: The laboratory must meet the standard of care in sample handling, analysis, interpretation, and reporting. [Link to: /misdiagnosis/lab-errors]

7. Timely communication of results: Results must be communicated to the patient and the ordering physician promptly — particularly abnormal results. [Link to: /delayed-diagnosis-lawyer/failure-to-follow-up]

Consequences of Genetic Testing Errors

The consequences of a genetic testing error can be profound:

• Birth of a child with a severe genetic condition: Down syndrome, Edwards syndrome, cystic fibrosis, sickle cell disease, Tay-Sachs, muscular dystrophy, spinal muscular atrophy, fragile X, and other conditions — with lifelong medical, educational, and care needs.
• Denied opportunity to terminate the pregnancy: The parents were denied the opportunity to make an informed decision about continuing the pregnancy.
• Extraordinary financial costs: The lifetime cost of caring for a child with a severe genetic condition can exceed $1-5 million — including medical care, therapy, special education, assistive equipment, and in-home care.
• Emotional distress: The emotional impact on the parents of learning their child has a severe condition — and the realization that they were denied the opportunity to make an informed decision.
• Impact on the family: Caring for a child with a severe genetic condition affects the entire family — including siblings, relationships, and the parents' ability to work.
• Unnecessary procedures: A false positive may lead to unnecessary diagnostic procedures (CVS, amniocentesis) — which carry a small risk of miscarriage.

Proving Causation in Genetic Testing Cases

Proving that a genetic testing error caused harm in a wrongful birth claim requires establishing:

1. The standard of care was breached: Expert testimony that the laboratory or healthcare provider failed to meet the standard of care — in performing, interpreting, or communicating the genetic test.

2. The error caused the parents to be misinformed: The parents were told the fetus did not have the condition (false negative) or were not offered testing — denying them the opportunity to make an informed decision.

3. The parents would have terminated the pregnancy if properly informed. This is a sensitive and personal issue — the parents must testify about what they would have done.

4. The child was born with a severe genetic condition — causing the extraordinary costs that form the basis of damages.

The defense may argue that the parents would not have terminated the pregnancy, that the condition was not detectable with the test used, or that the error was not the cause of the child's condition. Expert testimony is required to counter these arguments.

New York Statute of Limitations

Under CPLR § 214-a, the statute of limitations for wrongful birth claims is 2.5 years from the date of the negligent act (the date of the genetic test or the failure to offer testing). However, the discovery rule may apply — the clock may start from the date the parents discovered (or should have discovered) the error — which may be the date the child is born or the date the genetic condition is diagnosed. The continuous treatment doctrine may also extend the deadline if the parents continued receiving care from the same provider. For the child's separate malpractice claims, the infancy toll (CPLR § 208) extends the child's deadline to age 20. [Link to: /surgical-errors/statute-of-limitations] [Link to: /cerebral-palsy-lawyer/statute-of-limitations]

Frequently Asked Questions

The value of a medical malpractice case in New York depends on several factors, including the severity of the injury, the strength of liability evidence, and the economic and non-economic damages involved. New York is one of the few states with no caps on medical malpractice damages, meaning there is no artificial limit on what you can recover. Below are typical settlement ranges based on injury severity.