Common Birth Defects Missed As A Result of Medical Negligence

Key Takeaways:

• Many birth defects can be detected during pregnancy through ultrasounds, genetic screening, and other prenatal tests, but missed diagnoses can occur when healthcare providers fail to meet accepted medical standards.
• Healthcare providers may be negligent if they fail to order appropriate testing, misinterpret ultrasound images, overlook abnormal laboratory results, or fail to communicate important findings to patients.
• Birth defects that may be missed during pregnancy include congenital heart defects, spina bifida, cleft lip and cleft palate, chromosomal disorders, limb reduction defects, abdominal wall defects, and kidney abnormalities.
• Early diagnosis gives families time to prepare for treatment, coordinate care with specialists, and make informed plans for their child’s medical needs after birth.
• A missed birth defect diagnosis does not automatically constitute medical malpractice, but legal liability may arise when a healthcare provider’s negligence prevents a condition from being identified during pregnancy.
• If you suspect a birth defect was missed because of negligent prenatal care, obtaining medical records, seeking an independent medical review, and consulting a Michigan birth injury attorney can help you evaluate your legal options.

In Michigan, pregnancy care includes screenings and tests intended to identify fetal health concerns before birth. While it’s heartbreaking to detect a birth defect during pregnancy, doing so gives you the time to discuss treatment options with your doctor, prepare for the baby’s medical needs, and make plans for any future care they may need. This type of early detection can also help doctors arrange medical treatment immediately after delivery when needed.

Not all birth defects can be identified before the baby arrives. Even so, healthcare providers are expected to follow accepted medical standards when ordering tests, reviewing results, and communicating findings. If a doctor, radiologist, technician, or healthcare facility fails to identify a condition that should have been detected, the consequences can be serious for both the child and the family.

This article explains how birth defects are diagnosed during pregnancy, which conditions are commonly missed, how diagnostic mistakes occur, and when medical negligence may give rise to legal action.

What Is a Birth Defect?

A birth defect is a health condition that develops before a baby is born. Some of them affect the body’s appearance or physical development. Others affect how organs, body systems, or genetic functions work. According to the U.S. Centers for Disease Control and Prevention (CDC), birth defects affect about 1 in 33 babies born in the United States each year. 

Birth defects can range from mild conditions that need little treatment to life-changing disorders that require surgery, ongoing medical care, or lifelong support.  Medical professionals generally group them into two broad categories: structural and functional and developmental.

Structural Birth Defects

Structural birth defects involve changes in the body’s physical development. These conditions affect organs, bones, muscles, or other parts of the body that form during pregnancy. Examples include:

• Congenital heart defects
• Spina bifida
• Cleft lip and cleft palate
• Limb reduction defects
• Abdominal wall defects

Many structural abnormalities can be identified through prenatal ultrasound examinations. In some cases, further imaging studies or testing may be recommended after an abnormal finding appears.

Functional and Developmental Birth Defects

Functional and developmental birth defects affect how the body functions rather than how it looks. These conditions may involve the nervous system, metabolism, hearing, vision, learning ability, or genetic makeup. Examples include:

• Down syndrome
• Edwards syndrome
• Patau syndrome
• Certain metabolic disorders
• Some neurological conditions

Prenatal screening and genetic testing can identify an increased risk for many of these disorders before birth. When a condition that should have been identified goes undetected, you may lose the opportunity to prepare for medical needs, arrange treatment, or receive information that could affect decisions during pregnancy. That is one reason missed diagnoses can become the basis of a medical malpractice claim.

How Medical Negligence Can Lead to Missed Birth Defects

Doctors use ultrasounds, blood tests, genetic screenings, and diagnostic procedures to evaluate fetal development throughout pregnancy. These examinations help identify abnormalities that may affect a child’s health before and after birth.

While no test can identify every condition, healthcare providers are expected to follow accepted medical standards when recommending testing, reviewing results, and communicating findings. When that doesn’t happen, a birth defect that could have been detected may go unnoticed until birth.

Prenatal Tests Used to Detect Birth Defects

Ultrasound Examinations

Ultrasound imaging allows healthcare providers to examine fetal growth and anatomy. One of the most important screenings is the anatomy scan, which typically takes place between 18 and 22 weeks of pregnancy. During this examination, medical providers evaluate the baby’s organs, bones, and other physical structures. It can identify many structural abnormalities, including:

• Heart defects
• Neural tube defects
• Cleft lip and palate
• Limb abnormalities
• Kidney defects
• Abdominal wall defects

If an ultrasound reveals a potential concern, further imaging or referral to a maternal-fetal medicine physician may be appropriate. Follow-up testing can help confirm a diagnosis and assist doctors in planning treatment. 

Genetic Screening and Diagnostic Testing

Prenatal genetic testing can identify an increased risk for certain chromosomal and genetic disorders. These tests provide information that may not be visible during an ultrasound examination. In some cases, genetic testing can confirm the presence of a condition before birth. Common tests include:

• Non-invasive prenatal testing (NIPT)
• Maternal serum screening
• Chorionic villus sampling (CVS)
• Amniocentesis

These tests may help detect conditions such as Down syndrome, Edwards syndrome, and Patau syndrome before birth. Results may also indicate when additional evaluation is necessary. Healthcare providers are expected to explain abnormal findings and discuss available options with patients.

Common Errors That Lead to Missed Diagnoses

Several types of medical mistakes can contribute to a missed birth defect diagnosis. Some errors occur during testing, while others occur during the interpretation or communication of results. In many cases, a missed diagnosis stems from a combination of failures rather than a single mistake.

• Failure to Order Appropriate Testing: Some pregnancies involve known risk factors, including maternal age, family history, abnormal screening results, or prior pregnancy complications. A healthcare provider may fall below the accepted standard of care by failing to recommend further evaluation. 
• Misinterpretation of Ultrasound Images: Physicians, radiologists, and sonographers are expected to recognize abnormalities that appear during ultrasound studies. Unfortunately, a provider may miss visible signs of a birth defect due to inattention, inadequate review, or misinterpretation of the images. When concerning findings are overlooked, no additional testing may be ordered. This can delay diagnosis until after birth, when treatment options may be more limited.
• Errors Involving Laboratory Results: In some situations, abnormal findings may be incorrectly reported as normal. In others, healthcare providers may fail to recognize results that require additional investigation. These mistakes can prevent families from receiving important information during pregnancy.
• Failure to Communicate Abnormal Findings: Patients rely on their doctors to explain medical findings and available options. When a provider fails to inform parents about concerning findings or neglects to recommend appropriate follow-up care, patients can’t make informed choices about their care.

Not every missed birth defect results from malpractice. Some conditions are difficult to detect even when healthcare providers follow accepted medical standards and perform appropriate testing. Medicine has limitations, and some abnormalities remain hidden during pregnancy.

However, negligence may exist when a healthcare provider fails to take actions that another reasonably competent provider would have taken under similar circumstances. If those failures prevent the detection of a birth defect that should have been identified during pregnancy, legal liability may follow.

Common Birth Defects That May Be Missed Due to Medical Negligence

Congenital Heart Defects

Congenital heart defects affect the structure of the heart and may interfere with blood flow, oxygen levels, or normal heart function. Some heart defects are relatively minor, while others require surgery shortly after birth. According to the Centers for Disease Control and Prevention (CDC), congenital heart defects affect nearly 1% of births in the United States each year.

Several serious heart defects can sometimes be detected during pregnancy. Examples include:

• Hypoplastic left heart syndrome
• Tetralogy of Fallot
• Transposition of the great arteries
• Ventricular septal defects

When a congenital heart defect goes undetected, parents may have little time to prepare for the medical needs their child will face after delivery. Some newborns require emergency treatment, transfer to a specialized hospital, or surgery within the first days of life. Delayed diagnosis can complicate treatment planning and create additional medical risks.

Spina Bifida and Neural Tube Defects

Neural tube defects are serious congenital conditions that develop when the neural tube doesn’t close properly during early fetal development. The neural tube eventually forms the brain, spinal cord, and surrounding tissues. When development is interrupted, a child may experience lifelong health complications that affect mobility, learning, and overall physical function.

Spina bifida is one of the most well-known neural tube defects. The condition develops when the spinal column does not form completely, leaving part of the spinal cord exposed or improperly protected. The severity of symptoms varies, but some children experience paralysis, bowel and bladder dysfunction, orthopedic problems, and other neurological impairments.

When spina bifida remains undetected until birth, families may face unexpected medical challenges. Some children require surgery shortly after delivery, followed by years of medical treatment, rehabilitation, and supportive care. The financial and emotional effects can be substantial, particularly when a diagnosis should have been made during pregnancy.

Cleft Lip and Cleft Palate

Cleft lip and cleft palate are among the most frequently diagnosed congenital facial abnormalities. These conditions, which occur when tissues in the lip or roof of the mouth don’t join properly during fetal development, may affect the lip, the palate, or both.

Children born with cleft lip or cleft palate may experience challenges involving feeding, speech development, hearing, and dental health. Many children require multiple surgeries and ongoing treatment throughout childhood. Early diagnosis allows families and medical providers to prepare for these medical needs before birth. Without that information, you lose an opportunity to prepare for the treatment your child may need after birth.

Down Syndrome and Other Chromosomal Disorders

Chromosomal disorders happen when a baby has an abnormal number of chromosomes or changes within a chromosome. These genetic conditions can affect physical development, intellectual functioning, organ development, and overall health. Some chromosomal abnormalities are associated with serious medical complications that need lifelong care.

Down syndrome, also known as Trisomy 21, is one of the most widely recognized chromosomal disorders. Other examples include Edwards syndrome, known as Trisomy 18, and Patau syndrome, known as Trisomy 13. Each condition can cause developmental delays, birth defects, and a range of medical challenges that vary from child to child.

Modern prenatal care includes several screening and diagnostic tests that can identify an increased risk of chromosomal abnormalities during pregnancy. Non-invasive prenatal testing (NIPT) analyzes fetal DNA that circulates in the mother’s blood. Maternal serum screening, chorionic villus sampling (CVS), and amniocentesis can also provide important diagnostic information.

When a chromosomal disorder remains undetected until birth, parents may face unexpected medical and personal challenges. The diagnosis may require immediate consultations with specialists, additional testing, and long-term treatment planning. These developments can be particularly difficult when prenatal testing should have revealed the condition.

Limb Reduction Defects

Limb reduction defects are congenital abnormalities that affect the development of a baby’s arms, hands, legs, feet, or fingers. These conditions occur when a limb does not form completely during pregnancy. The severity of the condition can vary from minor differences in limb development to the absence of part or all of a limb.

Prenatal ultrasound examinations are one of the primary tools used to identify limb reduction defects before birth. During a routine anatomy scan, healthcare providers evaluate the baby’s physical development and examine the limbs for signs of abnormalities. In many cases, visible differences in limb formation can be detected during the second trimester.

When a limb reduction defect is not identified until birth, parents may face unexpected medical decisions and treatment needs. The diagnosis may require consultations with orthopedic surgeons, rehabilitation professionals, and other healthcare providers shortly after delivery. These developments can be particularly difficult when the condition was visible during prenatal imaging and should have been recognized.

Abdominal Wall Defects

Abdominal wall defects are serious congenital abnormalities that develop when the muscles and tissues of the abdomen do not develop properly during pregnancy. As a result, organs such as the intestines, liver, or stomach may develop outside the baby’s body. These conditions need immediate medical attention after birth and frequently involve surgical treatment.

Two of the most common abdominal wall defects are gastroschisis and omphalocele. Gastroschisis occurs when the intestines extend through an opening in the abdominal wall, usually beside the belly button. Omphalocele happens when abdominal organs protrude through the umbilical cord area and are enclosed within a protective sac.

When an abdominal wall defect remains undetected until delivery, the medical team may have less time to prepare for the child’s needs. Parents may also face unexpected medical decisions at a time when urgent treatment is required. The lack of advance planning can create additional challenges for both the family and healthcare providers.

Kidney and Urinary Tract Abnormalities

Kidney and urinary tract abnormalities are among the congenital conditions that may be detected during routine prenatal care. These defects can affect the kidneys, ureters, bladder, or other parts of the urinary system. Some conditions are relatively mild, while others can lead to serious health complications that require ongoing medical treatment.

One example is renal agenesis, a condition in which one or both kidneys fail to develop during pregnancy. Other abnormalities include obstructive uropathy, hydronephrosis, and structural defects that interfere with the normal flow of urine. These conditions can affect kidney function and may increase the risk of infections, developmental problems, and long-term health concerns.

Early diagnosis allows healthcare providers to monitor the pregnancy and prepare for any treatment the child may require after birth. Some kidney and urinary tract abnormalities can be managed successfully when medical teams are prepared to intervene early. Parents also benefit from having time to learn about the condition and discuss treatment options with healthcare providers.

What Families Should Do If They Suspect Medical Negligence

Discovering that a birth defect may have been missed during pregnancy can raise many difficult questions. You may wonder if warning signs were overlooked, if further testing should have been performed, or if important information was never communicated. If you have reason to believe that medical negligence concealed a birth defect, take the following steps:

• Obtain Medical Records: Request copies of all available medical records as soon as possible. These records may include prenatal care notes, ultrasound reports, genetic testing results, laboratory records, referral documents, and hospital records related to the delivery. Together, these documents can provide a timeline of the care that was provided throughout the pregnancy.
• Seek an Independent Medical Review: A second medical opinion can provide valuable insight into the care received during pregnancy. Another physician may be able to determine whether abnormalities were visible on imaging studies or whether additional testing should have been recommended. Independent review can also help identify questions that need further investigation.
• Keep Records of Expenses and Related Impacts: Medical bills, therapy costs, prescription expenses, travel costs, and adaptive equipment purchases may all become relevant in a legal claim.  It may also be helpful to maintain records relating to lost income and caregiving responsibilities, as some parents must reduce work hours or leave employment to provide care for their child.
• Consult a Medical Malpractice Attorney: An experienced attorney can review your medical records, consult with qualified experts, and determine whether further investigation is warranted. When you have legal counsel, you can also understand the deadlines involved and potential damages. This evaluation can help you decide how you wish to proceed.

Speak to a Michigan Birth Injury Lawyer Today

If your child was born with a birth defect that should have been identified during pregnancy, you may have questions about what happened and whether medical negligence played a role. Reviewing the medical records with an experienced attorney can help determine if accepted medical standards were violated and what legal options may be available.

At LegalGenius, we help Michigan families investigate medical malpractice claims involving missed diagnoses, prenatal negligence, and birth-related injuries. Our legal team can review your medical records, work with qualified healthcare professionals, and look for errors or missteps in your child’s diagnosis. For more information or to schedule a consultation, call 800-209-4000 or fill out our Ask the Genius™ form, and an attorney will contact you within five minutes. 

Frequently Asked Questions About Birth Defects and Medical Negligence

Can All Birth Defects Be Detected During Pregnancy?

No. Some birth defects are difficult or impossible to identify before birth, even when healthcare providers follow accepted medical standards. Detection rates depend on the type of condition, the quality of the imaging, the timing of testing, and other medical factors. However, many birth defects can be identified through prenatal screening and diagnostic testing.

What Prenatal Tests Can Detect Birth Defects?

Healthcare providers use several tests to screen for birth defects during pregnancy. These may include ultrasound examinations, non-invasive prenatal testing (NIPT), maternal serum screening, chorionic villus sampling (CVS), and amniocentesis. The type of testing recommended depends on the pregnancy and any known risk factors.

Can a Missed Birth Defect Lead to a Medical Malpractice Lawsuit?

It can in some situations. A medical malpractice claim may arise when a healthcare provider fails to meet the accepted standard of care, and that failure contributes to a missed diagnosis. Examples may include overlooking abnormalities on an ultrasound, failing to recommend appropriate testing, or failing to communicate abnormal results.

Who May Be Responsible for a Missed Birth Defect Diagnosis?

Several parties may be involved depending on the facts of the case. Potentially liable parties can include obstetricians, radiologists, sonographers, maternal-fetal medicine physicians, hospitals, and diagnostic laboratories. Determining responsibility requires a review of the medical records and the actions of each provider involved.

Sources:

• Birth Defects – Causes, Risk Factors, and Prevention. Centers for Disease Control and Prevention (CDC). https://www.cdc.gov/birth-defects/about/index.html 
• Heart Defects – Congenital Heart Defects Overview. Centers for Disease Control and Prevention (CDC). https://www.cdc.gov/heart-defects/about/index.html

Attorney Jeffrey Perlman

Attorney Jeffrey Perlamn is the managing partner at LegalGenius, PLLC. He has helped Metro Detroit accident victims recover the compensation they deserve for over 35 years. He believes everyone should have access to justice and the legal system, which is why Attorney Perlman spends his time outside of the courtroom writing informational blogs on the LegalGenius website that are accessible to all.