Some tests look at possibility; others confirm a diagnosis. Understand the purpose first, then choose.
Before choosing a test, first learn what the results mean.
Prenatal chromosome testing looks at certain chromosomal conditions in the baby. Screening estimates likelihood; diagnostic testing analyzes a sample to check the specified conditions. Each test has a different scope, and not every condition can be identified.
A high-risk screening result alone does not confirm a diagnosis. When results are ready, check together whether further testing or counseling is needed.
The purpose of a test matters more than its name.
NIPT · A screening test using a blood sample
Using DNA information in the pregnant person's blood, this evaluates the possibility of certain chromosomal number abnormalities. It can generally be considered from 10 weeks of pregnancy onward.
A low-risk result does not rule out every abnormality. A high-risk result, or a case where a result could not be obtained, requires further counseling.
Chorionic villus sampling · A diagnostic test using placental tissue
A sample of placental tissue is collected and analyzed. It is usually considered at 11–14 weeks of pregnancy, but the actual timing and whether it is appropriate depend on the pregnancy.
Decide after being informed of the risks of invasive testing, including miscarriage and infection. If results are unclear, further testing may be needed.
Amniocentesis · Diagnostic testing using amniotic fluid
While confirming the location with ultrasound, a portion of amniotic fluid is collected and analyzed. It is usually performed at 15 to 20 weeks of pregnancy, and later timing may be considered if needed.
We discuss the possibility of complications such as miscarriage and infection, and the scope of the test. When results can be confirmed depends on the items being analyzed.
Gestational weeks are a general guide. The testing facility's criteria and your individual situation are checked, and what testing or referral is available at LILEAP should be explained at your visit.
Consider asking these questions before you decide.
Why is this test recommended?
Check how your current gestational week, ultrasound and screening results, family history, and previous pregnancy history affect the choice of tests.
What can it tell us?
Distinguish what the test can and cannot detect, and ask about next steps if the result is uncertain.
What if I choose not to have the test?
After you fully understand the information you may gain and the risks, share your own thoughts. Being offered a test does not mean you must have it.
From consultation to reviewing results
01
Bring previous results and records
Please tell us how many weeks pregnant you are and share your ultrasound results, any screening results you have already received, your family history, and the medicines you take.
02
Review sample collection and how to prepare
Preparation and risks differ depending on whether it is a blood test or collection of tissue or amniotic fluid. Confirm preparation steps and how to contact the testing facility after the test.
03
Scheduling time to have the results explained
Do not judge by the numbers on the report alone. Ask your clinician to explain what the results mean and whether further confirmation is needed.
After an invasive test, please watch for any changes.
Symptoms to report to the testing facility right away
If you have severe or persistent abdominal pain, vaginal bleeding or fluid leaking, or fever, contact the facility that performed the test right away and seek care.
Frequently Asked Questions
Q.If NIPT shows high risk, does that confirm an abnormality in the baby?
This is not a definitive diagnosis. We review the nature of screening tests together with other results and discuss next options, including diagnostic testing.
Q.Can amniocentesis detect every condition?
It checks the items selected for testing; it is not a test that can identify every genetic condition or developmental problem. Please have the scope of the test explained in advance.
Q.Can a test sometimes fail to provide a result?
In some cases, a sufficient result cannot be obtained because of the sample or the analysis. Whether to collect another sample or choose a different test or consultation is decided with your clinician.
Feel free to bring your questions.
Please tell us what is bothering you and your previous examination and treatment history. Together we will confirm the care you need.