Late Prenatal Diagnosis of Genetic Conditions in Pennsylvania

Receiving a late prenatal genetic diagnosis can be one of the most difficult and disorienting experiences for expectant parents. The emotional burden of discovering a serious genetic or chromosomal condition in the third trimester is compounded by complex legal considerations, especially in a state like Pennsylvania, where abortion laws, malpractice statutes, and reproductive rights all intersect with high stakes.

If you’re navigating the aftermath of a missed or late diagnosis—whether it’s Trisomy 18, Down syndrome, or another serious fetal anomaly—this guide will help you understand what legal options may be available, how malpractice liability is determined, and what steps you can take to protect your rights and your family’s future.

 

Understanding Late Prenatal Genetic Diagnoses

A late prenatal genetic diagnosis refers to the identification of a chromosomal or structural abnormality in the fetus after the 24th week of pregnancy. This stage—commonly known as the third trimester—is considered late for making reproductive decisions, particularly when it comes to termination of pregnancy, which is highly restricted after this point in Pennsylvania.

These conditions are typically detected earlier through non-invasive prenatal testing (NIPT), ultrasound imaging, or amniocentesis. However, diagnostic failures do happen—either because tests were not properly administered, results were misread, or appropriate testing was never offered.

Common late-diagnosed conditions include:

1. Trisomy 18 (Edwards Syndrome): Often fatal, typically identified in the second trimester.
2. Trisomy 21 (Down syndrome): Usually detectable by week 20 via ultrasound or blood tests.
3. Spina bifida: Can be identified during mid-pregnancy anatomy scans.
4. Congenital heart defects: May require detailed fetal echocardiography to detect.
5. Rare chromosomal anomalies: May be missed without genetic sequencing or follow-up tests.

When a diagnosis is delayed, parents may lose the opportunity to make informed reproductive decisions, or face extreme emotional and financial burdens after birth. These are not just medical problems—they can become legal claims if negligence is involved.

 

What Happens Legally When Doctors Miss a Diagnosis?

Healthcare providers—especially OB-GYNs and maternal-fetal medicine specialists—are responsible for offering the right tests at the right times. They must communicate risks clearly and follow up when initial test results raise red flags. When they fail in this duty, it may qualify as medical malpractice.

This often involves:

1. Failure to recommend or offer appropriate screening or diagnostic tests
2. Inadequate explanation of testing risks, limitations, or alternatives
3. Misinterpretation of test results
4. Incomplete documentation of informed consent
5. Delays in communicating test results to the patient

If a medical provider’s actions (or inactions) result in a late diagnosis of a serious condition, the family may have legal standing to file a wrongful birth lawsuit—a specific type of claim permitted under Pennsylvania law.

 

Wrongful Birth vs. Wrongful Life in Pennsylvania

In medical malpractice law, two closely related but distinct types of claims often come into play: wrongful birth and wrongful life. Pennsylvania recognizes the former but does not allow the latter.

Wrongful Birth

This is a legal claim brought by parents who argue that they were denied the chance to make informed reproductive decisions due to medical negligence. In these cases, the parents assert that had they known about the fetal condition earlier, they would have chosen to terminate the pregnancy. The damages typically include emotional distress, added medical expenses, and the cost of long-term care for the child.

Wrongful Life

This would be a claim filed on behalf of the child, asserting that the child should not have been born due to the severity of their medical condition. Courts in Pennsylvania do not permit this type of lawsuit, ruling that the judicial system cannot determine that nonexistence is preferable to life, no matter how difficult that life may be.

Understanding this legal distinction is critical when assessing whether your situation qualifies for a lawsuit.

 

Malpractice and OB-GYN Liability in Pennsylvania

Doctors who manage pregnancies have a legal obligation to practice within the standard of care. When a physician deviates from these standards—especially in high-risk pregnancies—legal consequences may follow.

Key Areas Where Liability Arises

1. Genetic Testing Malpractice: When a doctor fails to offer NIPT, CVS, or amniocentesis in appropriate scenarios.
2. Informed Consent Failures: If the patient was not adequately informed about testing options or potential results.
3. Negligent Interpretation: Mistakes in reading ultrasounds or genetic test reports can lead to missed diagnoses.
4. Documentation Gaps: A lack of written consent or misfiled test orders may be evidence of malpractice.

These failures can become the foundation of a malpractice or wrongful birth lawsuit, particularly if they resulted in permanent consequences for the child or parents.

 

Pennsylvania Abortion Law and Late-Term Exceptions

Pennsylvania law restricts abortion after 24 weeks of gestation, making third-trimester reproductive decisions especially fraught.

Exceptions Under the Law

Pennsylvania does allow post-24-week abortions, but only if:

• The mother’s life is in danger, or
• The pregnancy poses a serious risk of substantial and irreversible impairment of a major bodily function.

Unfortunately, fetal anomalies—even severe or life-limiting ones—do not qualify as exceptions under this law unless they also endanger the mother’s health. This legal constraint places additional pressure on families who receive devastating news late in pregnancy and feel they have few or no options.

 

How to File a Wrongful Birth Lawsuit in Pennsylvania

If you believe a healthcare provider’s failure led to a missed or delayed prenatal diagnosis, you may be entitled to compensation under wrongful birth law.

Steps to Take

1. Collect your medical records: You’ll need detailed records from your OB-GYN, ultrasound technicians, and any genetic counselors you saw.
2. Get an expert opinion: Most Pennsylvania malpractice claims require expert testimony to establish that a provider acted outside the standard of care.
3. File within the statute of limitations: Pennsylvania law gives you two years from the date you knew or should have known about the medical error.
4. Hire a qualified malpractice attorney: These are complex cases requiring specific legal and medical knowledge.

Successful lawsuits may result in compensation for:

• Emotional suffering and trauma
• Cost of long-term medical care for the child
• Lost wages or income related to caretaking responsibilities
• Counseling and mental health expenses

 

Real-World Scenarios: Understanding What These Cases Look Like

Case 1: Trisomy 18 Diagnosis at 33 Weeks

A 39-year-old mother was never offered genetic testing despite being considered high-risk due to maternal age. At 33 weeks, a level II ultrasound detected anomalies that confirmed Trisomy 18, a condition incompatible with long-term survival. With abortion legally unavailable, the family endured a traumatic delivery and neonatal loss.

Outcome: They successfully filed a wrongful birth lawsuit based on the doctor’s failure to offer early genetic screening.

Case 2: Missed Down Syndrome in Third Trimester

A routine anatomy scan at 20 weeks showed potential soft markers for Down syndrome, but no follow-up testing was offered. A diagnosis was made at 30 weeks, leaving the family unprepared for the specialized neonatal care the baby would need.

Outcome: A lawsuit was filed citing negligent failure to act on diagnostic indicators, resulting in a confidential settlement.

 

What to Do If You’ve Received a Late Diagnosis

1. Get copies of all medical records and test results.
2. Contact an experienced medical malpractice attorney in Pennsylvania.
3. Keep a timeline of all medical appointments and communications.
4. Seek emotional and psychological support—this is a traumatic experience, and you deserve help.

 

Frequently Asked Questions

Can I sue my doctor if they missed a genetic condition in the third trimester?
Yes, you may have legal grounds to file a lawsuit, especially if the doctor failed to offer appropriate prenatal testing, misinterpreted results, or did not communicate critical findings in a timely manner. In Pennsylvania, this type of legal action is typically filed under a wrongful birth claim. To move forward, you’ll need to demonstrate that the provider’s actions—or inactions—directly prevented you from making an informed reproductive decision.

Is it legal to terminate a pregnancy in Pennsylvania after 24 weeks if a serious fetal anomaly is discovered?
In most cases, no. Pennsylvania law restricts abortions after 24 weeks of gestation, except when continuing the pregnancy poses a significant threat to the mother’s life or causes serious risk of irreversible bodily harm. Unfortunately, a genetic or chromosomal condition in the fetus—no matter how severe—does not automatically qualify as an exception unless it also endangers the mother’s health. This legal limitation can make third-trimester decisions extremely difficult for affected families.

What is the difference between wrongful birth and wrongful life claims, and which is allowed in Pennsylvania?
Wrongful birth claims are filed by parents who argue that they were denied the opportunity to make informed choices because of a healthcare provider’s failure to properly diagnose a fetal condition. This type of claim is recognized under Pennsylvania law. In contrast, wrongful life claims are brought on behalf of the child, suggesting that the child should not have been born due to their condition. Pennsylvania courts do not permit wrongful life lawsuits, as the law does not recognize a cause of action based on the premise that nonexistence is preferable to life with a disability.

What kind of damages can I recover in a wrongful birth lawsuit in Pennsylvania?
If your lawsuit is successful, you may be eligible to receive compensation for emotional distress, ongoing medical and developmental care expenses for the child, lost income from caregiving responsibilities, and any extraordinary educational or therapeutic costs required due to the child’s condition. The courts assess damages on a case-by-case basis, often relying on medical and financial expert testimony.

How long do I have to file a wrongful birth or malpractice claim in Pennsylvania?
The statute of limitations for filing a medical malpractice or wrongful birth claim in Pennsylvania is typically two years from the date the injury was discovered—or reasonably should have been discovered. This often means two years from the time the misdiagnosis or late diagnosis came to light. However, certain exceptions may apply depending on the details of your case, so it’s critical to consult a medical malpractice attorney as soon as possible.

 

Contact Matzus Law, LLC Today

If you’ve been affected by a late prenatal genetic diagnosis in Pennsylvania and feel your medical team failed to inform or protect you, you may have a valid legal claim. These cases are medically and legally complex, and the sooner you take action, the stronger your case may be.

Contact Matzus Law, LLC today to discuss your options in confidence. Your rights matter. Your story matters. And legal help is available.