Congenital Adrenal Hyperplasia and Delayed Newborn Screening Follow-Up

Every baby born in New York receives a newborn screening test within the first two days of life. One of the conditions this test looks for is congenital adrenal hyperplasia, or CAH. When the screening detects a possible problem, prompt follow-up testing is critical. Delays in that follow-up can lead to life‑threatening emergencies and, in some cases, permanent harm.

This article explains how CAH screening works, what happens when follow-up is delayed, and when that delay may constitute medical negligence under New York law. It also clarifies an important distinction: congenital cytomegalovirus, or CMV, is not routinely screened in most U.S. newborn programs, so the legal and medical considerations are different.

What Is Congenital Adrenal Hyperplasia (CAH)?

Congenital adrenal hyperplasia is a group of genetic disorders that affect the adrenal glands. These small glands sit on top of the kidneys and produce hormones the body needs to regulate blood pressure, manage stress, and develop properly. In babies with CAH, one of the enzymes needed to make these hormones is missing or doesn’t work correctly.

A Genetic Enzyme Disorder That Can Be Life-Threatening

CAH is inherited in an autosomal recessive pattern, which means a child must receive one changed gene from each parent to have the condition. According to the National Institutes of Health, CAH is a core condition on the U.S. Recommended Universal Screening Panel, meaning screening is highly recommended for all newborns.

Without treatment, CAH can cause a sudden, severe drop in blood pressure and blood sugar levels. This is called an adrenal crisis, and it is a medical emergency. Symptoms in a newborn may include severe vomiting, dehydration, weak muscle tone, and in the most serious cases, shock or death. Early diagnosis through newborn screening can prevent these emergencies.

Most Common Cause: 21-Alpha-Hydroxylase Deficiency

About 90 to 95 percent of CAH cases are caused by a deficiency in an enzyme called 21-alpha-hydroxylase. According to StatPearls, newborn screening for 17-hydroxyprogesterone detects nearly all infants with the classic, severe form of this deficiency. This enzyme is made by a gene called CYP21A2. When this gene is mutated, the adrenal glands cannot produce enough cortisol and, in many cases, aldosterone. Cortisol helps the body respond to stress and illness. Aldosterone helps the kidneys hold onto salt and water, which keeps blood pressure stable.

Some babies with CAH also have a form that affects genital development, which can be noticed at birth. Others have a milder form that may not show symptoms until later in childhood. Regardless of the type, identifying CAH early through screening allows doctors to start treatment before a crisis occurs.

How Newborn Screening for CAH Works in New York

Newborn screening is a public health program designed to identify babies who may have serious but treatable conditions. In New York, as in every U.S. state, CAH is part of the standard screening panel.

When and How the Blood Test Is Done (24–48 Hours After Birth)

According to the Centers for Disease Control and Prevention, the newborn screening blood test is typically done 24 to 48 hours after birth. A few drops of blood are taken from the baby’s heel and placed on a special filter paper card. The card is sent to a state laboratory for analysis.

The test measures a substance called 17-hydroxyprogesterone, or 17-OHP, which is often elevated in babies with CAH. If the level is higher than normal, the screening result is considered positive or abnormal, and the baby needs additional testing.

Screening Is Not a Diagnosis: Why Follow-Up Is Critical

A positive newborn screening result does not mean the baby definitely has CAH. The screening test is designed to catch as many at-risk babies as possible, which means it sometimes flags babies who turn out to be healthy. That’s why follow-up is essential.

Follow-up testing usually includes a more detailed blood test to measure cortisol, aldosterone, and 17-OHP levels more precisely. A pediatric endocrinologist may also evaluate the baby. Some states require a second screening test at around two weeks of age to reduce false positives. New York’s specific protocols may vary, and parents should ask their pediatrician about the timeline for follow-up in their case.

The key point is this: a positive screen is a signal to act quickly, not a final answer. When that signal is ignored or delayed, the consequences can be severe.

What Happens When CAH Follow-Up Is Delayed?

Time is critical when a newborn screening test suggests CAH. The window between a positive screen and the onset of an adrenal crisis can be narrow, especially in babies with the salt-wasting form of the condition.

Risk of Adrenal Crisis and Emergency Symptoms

An adrenal crisis can develop within the first few weeks of life. Early symptoms may include poor feeding, vomiting, weight loss, and lethargy. As the crisis worsens, the baby may become severely dehydrated, develop a rapid heart rate, and show signs of shock.

Without emergency treatment, an adrenal crisis can cause brain damage, organ failure, or death. Treatment involves intravenous fluids, salt replacement, and hormone medication. When given promptly, these interventions can stabilize the baby and prevent long-term harm.

If follow-up testing is delayed because a lab result was lost, a parent was never contacted, or a pediatrician did not act on an abnormal screen, the baby may reach a point of crisis that could have been prevented.

Long-Term Health Risks from Untreated CAH

Even if a baby survives an adrenal crisis, delayed diagnosis can lead to lasting health problems. Babies with untreated CAH may experience growth delays, puberty problems, fertility issues, and ongoing difficulties with blood pressure and blood sugar regulation.

Children with CAH need lifelong hormone replacement therapy and regular monitoring by specialists. Starting that treatment early, before symptoms develop, gives the child the best chance at a healthy, stable life. Delayed diagnosis can mean the child enters treatment only after suffering preventable harm. You can read more about how a birth injury can lead to developmental delays.”

When Delayed Follow-Up May Be Medical Negligence

Medical negligence in the context of a missed or delayed CAH follow-up can take several forms: a lab or hospital losing the screening card, a pediatrician’s office failing to contact parents about an abnormal result, or a provider seeing elevated 17-OHP levels but deciding to “wait and see” instead of referring to a specialist. If a delay like this leads to an adrenal crisis, hospitalization, or permanent injury, it may be possible to show the provider’s actions fell below the accepted standard of care. You can read more about how delayed newborn screening follow-up can constitute medical malpractice in New York.

Medical records are key to understanding what happened. Parents should request copies of the newborn screening report, any lab results, and all communication between the hospital, the state screening program, and the baby’s pediatrician. These documents can help show whether the provider knew about the abnormal result and what steps, if any, were taken in response.

Steps Parents Can Take If Follow-Up Is Delayed

If you believe your child’s newborn screening follow-up was delayed or mishandled, there are concrete steps you can take to protect your child’s health and legal rights.

Start by gathering all relevant documents. Contact the hospital where your child was born and request a copy of the newborn screening card submission and any results the hospital received, contact your child’s pediatrician for all records related to the screening, and contact the New York State newborn screening program directly to request a copy of the official screening report showing what tests were done and when results were sent to the pediatrician. In New York, you have the right to access your child’s medical records under Public Health Law Section 18. Providers must let you inspect records within 10 days of a written request, and the New York State Department of Health considers 10 to 14 days a reasonable timeframe for providing copies. You can read more about how to request your child’s medical records in New York.

Once you have the records, consider speaking with an attorney who focuses on birth injury and medical negligence cases in New York. Under New York law, medical malpractice claims generally must be filed within two and a half years of the malpractice, and for a child, this period can be extended, but never beyond ten years from the date of the malpractice. You can read more about how New York’s infant tolling rules apply to birth injury deadlines.

Congenital CMV vs. CAH: Why Screening Matters Differently

It’s important to understand that congenital adrenal hyperplasia and congenital cytomegalovirus are two distinct conditions with very different screening practices and legal implications.

CMV Is Not Routinely Screened in Most U.S. Newborn Programs

Congenital CMV is a viral infection that can cause hearing loss, developmental delays, and other long-term problems in some children. About 1 in 200 newborns in the United States are born with CMV, and about 1 in 5 of those children will have lifelong disabilities.

However, CMV is not included on the U.S. Recommended Universal Screening Panel. Most states, including New York, do not routinely screen newborns for CMV. Diagnosis usually happens after symptoms appear or when a mother’s infection is identified during pregnancy.

How This Changes the Legal and Medical Picture

Because CMV is not part of standard newborn screening, “delayed CMV screening follow-up” is not a typical basis for a negligence claim in the same way delayed CAH follow-up can be. There is no universal screening result to ignore or lose.

That said, if a healthcare provider knew or should have known that a mother had an active CMV infection during pregnancy and failed to test or counsel the family appropriately, there may be other grounds for a claim. Each case depends on its specific facts.

For families researching birth injuries and delayed diagnosis, it’s important to focus on the condition your child actually has and the screening or diagnostic steps that apply to that condition. CAH and CMV are both serious, but the legal and medical pathways are different.

Frequently Asked Questions

If My Baby’s CAH Screen Was Positive but a Repeat Test Came Back Normal, Is Everything Fine?

Not automatically. Because 17-OHP levels can be affected by prematurity, stress, and timing of the sample, a normal repeat result is reassuring but your pediatrician or a pediatric endocrinologist should confirm that no further monitoring is needed based on your baby’s specific risk factors and clinical picture. If your baby has any symptoms like poor feeding, vomiting, or unusual genital appearance, mention these even if the repeat screen was normal.

Does the Salt-Wasting Form of CAH Progress Faster Than Other Forms?

Yes. The salt-wasting form, which involves both cortisol and aldosterone deficiency, can lead to a life-threatening adrenal crisis within the first one to two weeks of life, making it one of the most time-sensitive conditions on the newborn screening panel. The simple virilizing form progresses more slowly and may not cause a medical emergency, though it still requires treatment and monitoring.

Is Congenital CMV Screened in Newborns the Same Way CAH Is?

No. CAH is part of the standard newborn screening panel that every baby in New York receives through a heel-stick blood test. Congenital CMV is not on this panel and is not routinely tested for unless a doctor orders specific CMV testing based on symptoms or a known maternal infection. This is an important distinction if you’re researching a possible birth injury claim, since the legal analysis for a missed CMV diagnosis works differently than a delayed CAH follow-up.

Can a Baby with Nonclassic CAH Still Have a Medical Emergency as a Newborn?

Nonclassic CAH is generally milder and less likely to cause a newborn emergency, since it typically doesn’t involve significant aldosterone deficiency. However, some babies initially flagged with milder elevations still need follow-up testing to distinguish nonclassic CAH from the classic salt-wasting form, so a positive screen should never be dismissed without confirmatory testing regardless of how mild the initial numbers appear.

What Should I Do if I Was Never Told My Baby’s Newborn Screening Results?

Contact your child’s pediatrician and the hospital where your baby was born to request the results directly, and also contact the New York State newborn screening program, since they maintain independent records of what was tested and reported. If your baby had an abnormal result you were never notified about, document the timeline of what you were told and when, and consider consulting an attorney, especially if your child has since developed symptoms.

Acting Quickly on an Abnormal CAH Screening Result

Congenital adrenal hyperplasia is one of the conditions newborn screening was specifically designed to catch before symptoms become dangerous, and most babies whose follow-up happens promptly go on to do well with treatment. Understanding what a positive screen means, why follow-up testing matters, and how quickly an adrenal crisis can develop can help you advocate for your child if a result comes back abnormal. If you believe your baby’s follow-up was delayed or mishandled, gathering the medical records and speaking with an attorney can help you understand what happened.