Question 1

What is congenital hypothyroidism?

Accepted Answer

Congenital hypothyroidism is a thyroid disorder present at birth where the thyroid gland fails to produce adequate thyroid hormones. It is caused by thyroid gland abnormalities, including absent or underdeveloped thyroid tissue, defects in thyroid hormone production, or pituitary gland dysfunction affecting thyroid-stimulating hormone (TSH) release. The Thyroxine Free (FT4) Immunoassay is the most important test for diagnosing congenital hypothyroidism because it measures the active form of thyroid hormone critical for infant brain development.

Question 2

What causes congenital hypothyroidism?

Accepted Answer

Congenital hypothyroidism is caused by thyroid gland abnormalities present at birth, including absent or underdeveloped thyroid tissue (thyroid dysgenesis), defects in thyroid hormone production (thyroid dyshormonogenesis), or rarely, pituitary gland problems affecting thyroid-stimulating hormone (TSH) production. In some cases, maternal antibodies or medications taken during pregnancy can temporarily affect a newborn's thyroid function. Most cases occur sporadically without a clear family history, though genetic factors can play a role in some infants.

Question 3

What is the best test for congenital hypothyroidism?

Accepted Answer

The Thyroxine Free (FT4) Immunoassay is the most important test for congenital hypothyroidism because it directly measures the active form of thyroid hormone essential for infant brain and body development. Low FT4 levels confirm insufficient thyroid hormone production and help determine the severity of the deficiency. This test is typically performed alongside TSH (thyroid-stimulating hormone) testing as part of newborn screening programs within the first few days of life. Early detection through FT4 testing allows healthcare providers to start thyroid hormone replacement therapy immediately, preventing irreversible intellectual disabilities and developmental delays.

Question 4

When should I get my baby tested for congenital hypothyroidism?

Accepted Answer

You should get your baby tested within the first 24-72 hours after birth as part of routine newborn screening programs offered in all U.S. states. Testing is especially important if your baby shows signs like prolonged jaundice lasting more than two weeks, excessive sleepiness or difficulty waking for feedings, constipation, a hoarse-sounding cry, or poor muscle tone. If initial screening shows abnormal results, immediate follow-up testing is critical because early treatment within the first two weeks of life prevents permanent brain damage and developmental problems.

Question 5

What are the symptoms of congenital hypothyroidism?

Accepted Answer

Most newborns with congenital hypothyroidism appear normal at birth, which is why blood testing is essential. Early signs that may develop include prolonged jaundice, poor feeding, constipation, cold skin, a large soft spot on the head, excessive sleepiness, weak cry, and low muscle tone. Without treatment, symptoms progress to include poor growth, delayed developmental milestones, puffy face, enlarged tongue, and intellectual disability. Early detection through newborn screening prevents these serious complications before symptoms become apparent.

Question 6

Who is at risk for congenital hypothyroidism?

Accepted Answer

Congenital hypothyroidism affects approximately 1 in 3,000-4,000 newborns and is twice as common in females as males. Babies born to mothers with thyroid disorders, those with Down syndrome or other chromosomal abnormalities, and infants with a family history of thyroid disease have higher risk. Premature babies and those whose mothers took certain medications during pregnancy, including antithyroid drugs or had iodine deficiency, also face increased risk. However, most affected infants have no identifiable risk factors, making universal newborn screening essential.

Question 7

What happens if congenital hypothyroidism is left untreated?

Accepted Answer

Untreated congenital hypothyroidism causes irreversible intellectual disability and severe developmental delays because thyroid hormones are critical for brain development during the first years of life. Children experience stunted physical growth, delayed bone maturation, speech problems, hearing loss, and poor coordination. Other complications include heart problems, anemia, and prolonged jaundice leading to brain damage. The severity of outcomes depends on how long treatment is delayed, which is why immediate diagnosis and treatment within the first two weeks of life are critical for normal development and preventing permanent disabilities.

Question 8

Can congenital hypothyroidism be diagnosed with a blood test?

Accepted Answer

Yes, congenital hypothyroidism is definitively diagnosed through blood tests that measure thyroid hormone levels. The initial newborn screening typically measures TSH (thyroid-stimulating hormone) and sometimes T4 (thyroxine) from a heel prick blood sample. If screening results are abnormal, confirmatory blood tests measure free T4 (FT4) and TSH levels to confirm the diagnosis and assess severity. Blood testing is the only reliable way to detect congenital hypothyroidism because most affected babies show no obvious symptoms at birth.

Question 9

How is congenital hypothyroidism treated?

Accepted Answer

Congenital hypothyroidism is treated with daily oral levothyroxine (synthetic thyroid hormone) replacement therapy, typically started within the first two weeks of life. The medication is crushed and mixed with a small amount of breast milk, formula, or water and given once daily. Doctors monitor thyroid hormone levels through regular blood tests to adjust the dosage as the child grows, ensuring optimal levels for normal development. With consistent treatment started early, children with congenital hypothyroidism develop normally and lead healthy lives, though most require lifelong thyroid hormone replacement.

Question 10

How can I prevent congenital hypothyroidism?

Accepted Answer

While most cases of congenital hypothyroidism cannot be prevented because they result from developmental abnormalities, pregnant women can reduce risk by ensuring adequate iodine intake through diet or prenatal vitamins, as iodine deficiency can affect fetal thyroid development. Women with thyroid disorders should work closely with their healthcare providers to maintain optimal thyroid hormone levels during pregnancy. Avoiding unnecessary medications that affect thyroid function during pregnancy is also important. The most effective prevention strategy is universal newborn screening, which ensures early detection and treatment before permanent damage occurs.

Question 11

What can parents do at home for a baby with congenital hypothyroidism?

Accepted Answer

Parents should give prescribed levothyroxine medication consistently at the same time each day, typically in the morning before feeding, and never skip doses. Keep all follow-up appointments for blood tests to monitor thyroid levels and ensure proper medication dosing. Watch for signs that medication needs adjustment, such as increased irritability, poor feeding, or excessive sleepiness, and report these to your healthcare provider. Maintain a routine schedule for feeding, sleeping, and medication to support healthy development. With proper medication management, babies with congenital hypothyroidism thrive and reach all normal developmental milestones.

Question 12

How’s this work?

Accepted Answer

Getting your blood test with us is easy, private & backed by the power of science.Long story short:
            
                In the test options, use the filters or search box to narrow your choices and find the test you want.
                If you need a hand navigating through options, text our super friendly support team at 754-799-7833, and we'll provide tailored suggestions to help you find the ideal test.
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                If this is your first time ordering, you'll be prompted to create a password for instant login access to your patient portal. It's a quick way to conveniently access your orders and results whenever you want.
                When you’re ready, visit one of our 4,000 locations. Just bring your ID – no printing or faxing of your lab order is needed, as your order and details will already be in the lab system.
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Question 13

How do I know which test to get?

Accepted Answer

In the test options, find the test you want.
            If you’re not sure which test to get, we can lend a hand in finding the right option.
            Just text or call us at 754-799-7833, email us at support@privatemdlabs.com, and we'll gladly help you. We've got your back and reply quickly.

Question 14

When will my lab results be available?

Accepted Answer

Most test results will be available within 1–3 business days. Once they're ready, we'll send an email and text message to let you know.
            After your blood draw, just hang tight and don't worry – we'll keep you updated and in the loop!
            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com, and we'll gladly help you.

Question 15

Is it possible to make changes to my lab order if I made a mistake with the name, date of birth, or any other details?

Accepted Answer

Absolutely! We totally understand that errors can happen. No worries, we're here to help you.
            Just reach out to us via text at 754-799-7833 or shoot us an email at
            support@privatemdlabs.com. Remember to include your order number and let us know the correct information you’d like to update.
            Our awesome team will jump right in and make sure everything is sorted out and accurate for you.
            There are no changes necessary if your address is wrong on the requisition though. We don’t mail anything out.
            Our lab requires an address to be listed to generate an order.

Question 16

Do you accept health insurance?

Accepted Answer

Only HSA & FSA is accepted.
            Our services are strictly self-pay and cannot be submitted to your health insurance provider except for Health Savings Accounts or Flexible Savings Accounts.
            This policy applies to all insurance companies, including federal health insurance programs like Medicare.
            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com.

Question 17

Can I cancel my order?

Accepted Answer

Yes.
            We get it – sometimes your needs change.
            As long as your samples haven’t been collected yet, we’re happy to help you cancel your order.
            If you have any further questions, please text us at 754-799-7833 or email support@privatemdlabs.com.
            You can read more about our cancellation policy here.

Question 18

How can I find a lab location near me?

Accepted Answer

During the ordering process, you’ll be able to select a specific lab near you, with no strings attached!
            You can switch it up later easily and visit any of our authorized locations as long as it’s the same lab company you selected your test for (Quest Diagnostics or Labcorp).
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            If you have any questions, please text us at 754-799-7833 or email support@privatemdlabs.com and we'll gladly help you.

Congenital Hypothyroidism Blood Test

What is Congenital hypothyroidism?

What causes congenital hypothyroidism?

What is the best test for congenital hypothyroidism?

When should I get my baby tested for congenital hypothyroidism?

References

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