Question 1

What is Patau Syndrome (Trisomy 13)?

Accepted Answer

Patau Syndrome (Trisomy 13) is a rare genetic disorder where a baby has an extra copy of chromosome 13. It is caused by chromosomal nondisjunction during cell division, resulting in three copies of chromosome 13 instead of two. The Estriol LC/MS/MS Serum test is the most important screening test for assessing Patau Syndrome risk during pregnancy.

Question 2

What causes Patau Syndrome?

Accepted Answer

Patau Syndrome is caused by chromosomal nondisjunction, an error during cell division that results in three copies of chromosome 13 instead of the normal two copies. This happens when chromosomes fail to separate properly during the formation of egg or sperm cells, or shortly after conception. The extra genetic material disrupts normal development and leads to the severe physical and intellectual disabilities characteristic of Patau Syndrome. Most cases occur randomly with no family history, though the risk increases slightly with maternal age.

Question 3

What is the best test for Patau Syndrome?

Accepted Answer

The Estriol LC/MS/MS Serum test is the most important blood screening test for assessing Patau Syndrome risk during pregnancy because it measures estriol hormone levels that are typically lower when chromosomal abnormalities are present. This test is usually performed as part of a comprehensive prenatal screening panel during the second trimester, often combined with other markers like AFP and hCG. While blood screening tests cannot definitively diagnose Patau Syndrome, abnormal results indicate increased risk and lead to recommendations for confirmatory genetic testing such as amniocentesis or chorionic villus sampling, which directly analyze fetal chromosomes for the presence of an extra chromosome 13.

Question 4

When should I get tested for Patau Syndrome?

Accepted Answer

You should get tested if you are pregnant and want to screen for chromosomal abnormalities, especially if you are over age 35, have a family history of genetic disorders, or had abnormal results on routine prenatal ultrasound. Testing is typically done during the second trimester of pregnancy between 15 and 20 weeks. Your healthcare provider may also recommend earlier first-trimester screening or additional testing if you have had a previous pregnancy affected by chromosomal abnormalities or if prenatal imaging shows signs associated with Patau Syndrome.

Question 5

What are the symptoms of Patau Syndrome?

Accepted Answer

Patau Syndrome causes severe physical and developmental abnormalities including cleft lip and palate, small or poorly developed eyes, extra fingers or toes, heart defects, and brain or spinal cord abnormalities. Babies with this condition typically have low birth weight, weak muscle tone, seizures, and severe intellectual disability. Many infants also have kidney problems, omphalocele (abdominal organs protruding through the belly button), and scalp defects. Most affected babies are diagnosed at birth or shortly after due to the distinctive physical features, though prenatal screening and ultrasound can identify warning signs during pregnancy.

Question 6

Who is at risk for Patau Syndrome?

Accepted Answer

The primary risk factor for Patau Syndrome is advanced maternal age, particularly women over 35 years old, as the likelihood of chromosomal errors during egg cell development increases with age. However, most cases occur in pregnancies to younger women simply because they have more babies overall. Parents who carry a balanced translocation involving chromosome 13 have a higher risk of having multiple affected pregnancies. Unlike some genetic conditions, Patau Syndrome typically occurs randomly and is not inherited, affecting approximately 1 in 10,000 to 16,000 live births regardless of ethnicity or family history.

Question 7

What happens if Patau Syndrome is left untreated?

Accepted Answer

Patau Syndrome is a life-limiting condition with most affected babies surviving only days to weeks after birth, and fewer than 10 percent living beyond their first year. The multiple severe organ defects, particularly heart and brain abnormalities, lead to life-threatening complications that cannot be fully corrected. Without medical intervention, babies face immediate risks from breathing difficulties, feeding problems, seizures, and heart failure. While some medical treatments can address specific symptoms and improve comfort, there is no cure for the underlying chromosomal abnormality. Early prenatal diagnosis allows families time to make informed decisions about pregnancy management and prepare for intensive medical care or palliative support.

Question 8

Can Patau Syndrome be diagnosed with a blood test?

Accepted Answer

Blood tests alone cannot definitively diagnose Patau Syndrome, but they play an essential role in prenatal screening to identify pregnancies at increased risk. The Estriol LC/MS/MS Serum test measures hormone levels that can indicate possible chromosomal abnormalities when results are abnormal. Definitive diagnosis requires genetic testing through amniocentesis or chorionic villus sampling, which analyze fetal cells to detect the extra chromosome 13. After birth, diagnosis is confirmed through chromosomal analysis of the baby's blood sample. Prenatal screening blood tests are valuable because they are non-invasive and help determine which pregnancies need more definitive genetic testing.

Question 9

How is Patau Syndrome treated?

Accepted Answer

Patau Syndrome has no cure, and treatment focuses on managing symptoms and providing comfort care tailored to each baby's specific medical needs. Medical interventions may include surgery to repair heart defects or cleft lip and palate, feeding tubes for nutrition support, medications to control seizures, and breathing assistance. Many families choose palliative or comfort care that prioritizes quality of life rather than aggressive medical interventions given the poor long-term prognosis. A multidisciplinary medical team including geneticists, cardiologists, neurologists, and palliative care specialists typically coordinates care. Treatment decisions are highly individual and based on the severity of abnormalities, family wishes, and the baby's overall condition.

Question 10

How can I prevent Patau Syndrome?

Accepted Answer

Patau Syndrome cannot be prevented because it results from a random chromosomal error during cell division that occurs by chance. However, genetic counseling before pregnancy can help identify couples at higher risk, particularly those who carry chromosomal translocations. Prenatal screening and diagnostic testing during pregnancy allow for early detection, giving families time to make informed decisions and prepare for medical care. While there is no way to reduce the risk once pregnant, maintaining overall reproductive health through prenatal vitamins with folic acid, avoiding harmful substances, and receiving regular prenatal care supports healthy pregnancy outcomes. For couples who have had a previous pregnancy affected by Patau Syndrome, genetic counseling can assess recurrence risk for future pregnancies.

Question 11

What can I do at home for Patau Syndrome?

Accepted Answer

Home care for babies with Patau Syndrome focuses on comfort, love, and meeting basic needs while working closely with medical providers. You can provide gentle handling, skin-to-skin contact, and a calm environment to minimize stress and discomfort for your baby. Feeding may require special techniques or equipment recommended by your medical team, and you should monitor for signs of distress like breathing changes or seizures. Connecting with support groups for families affected by Patau Syndrome can provide emotional support and practical advice during this difficult time. While medical interventions happen in healthcare settings, creating a peaceful, loving home environment and cherishing time with your baby are the most important things you can do at home.

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.
                Once your order is placed, we’ll create your doctor’s lab order remotely, without any need for you to make a trip to a doctor in person or to talk to the doctor. Expect to receive your doctor’s lab order right in your inbox. It will also be in your patient portal if you need to find it later. We’ll also include instructions regarding fasting and other requirements for your test. Your patient portal will be auto-created hassle-free during checkout.
                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.
                Note that most lab locations don’t accept walk-ins, so it’s best to book an appointment in advance. Don’t worry – we’ll provide detailed instructions along the way.
                You’ll get your results via email & SMS and dive into understanding your body better. Yup, that easy!
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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.

Patau Syndrome Blood Test

What is Patau Syndrome (Trisomy 13)?

What causes Patau Syndrome?

What is the best test for Patau Syndrome?

When should I get tested for Patau Syndrome?

References

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