Common questions

There are several synonymes for the syndrome and information can also be found for DiGeorge syndrome and Velocardiofacial syndrome, VCFS.

Socialstyrelsen Ovanliga diagnoser, 22q-deletionssyndromet.

Sällsynta diagnoser, CATCH 22/22q11-deletionssyndrom.

Patient organisation, 22q.

The test cannot be performed in the following cases:

• Gestational age is less than 10 weeks
• Pregnancies with 3 or more fetuses
• With vanishing twin syndrome only if the developmental arrest occurs before 8^th week of pregnancy and at least 8 weeks have passed since the diagnosis
• If the patient received blood transfusion less than 1 year before the test sampling
• In case of cellular immunotherapy with exogenous DNA or human serum albumin therapy if less than 4 weeks have passed before the test sampling
• If the patient has undergone stem cell therapy, has received bone marrow or solid organ transplant, has an active malignancy, or has abnormal karyotype

The reliability of the test may be reduced in case of high maternal body mass index.

No. NIPT is available for singleton and twin pregnancies only.

NIPT is not intended to detect mosaicism, partial chromosome aneuploidy, chromosomal translocations, or maternal aneuploidy. NIPT does not detect neural tube defects.

Depending on the test package selected, NIPT can screen for trisomies 21, 18, 13, sex chromosome aneuploidies, and various microdeletion and duplication syndromes. Your healthcare provider can help you understand which test option is best for you.

NIPT is more than 99% reliable for the detection of most common trisomies (Down, Edwards, and Patau syndrome).¹ By comparison, traditional blood tests can miss
as many as 15% of cases in pregnant women.

NIPT is also much less likely than traditional tests to give you a false-positive result, meaning there is much less chance your doctor would recommend follow-up invasive testing, such as amniocentesis.

NIPT is a screening test which means that all high-risk results should be confirmed with diagnostic testing.

When you are pregnant, your blood contains fragments of your developing baby’s DNA. NIPT analyzes this DNA in a sample of your blood to determine the probability of trisomy 21 (Down syndrome) and other genetic conditions such as trisomy 18 and trisomy 13.

NIPT delivers clear answers as early as the first trimester with a single blood draw. Other commonly used tests (FTS = KUB) are performed later in pregnancy and may require multiple office visits. Traditional first trimester serum screening tests are associated with a false-positive rate as high as 5%.

NIPT uses advanced DNA analytical methods that, combined with extensive quality controls and measurement of fetal fraction, achieve over 99% accuracy for most common trisomies.

Yes, NIPT includes the option to evaluate fetal sex and sex chromosome aneuploidies (abnormalities in the number of X and Y chromosomes), if you ask your healthcare provider to request this additional analysis.

The risk of Down syndrome in a pregnancy increases with maternal age; however, most cases occur in women who are under age 35 (simply because more babies are born to younger women). Moreover, the incidence of deletion and duplication syndromes is the same regardless of age.

NIPT is suitable for any pregnant woman, regardless of age, who wants more accurate information about their baby’s chromosomal health.

You can get NIPT with a simple blood draw as early as 10 weeks into your pregnancy, or any time later in pregnancy. You should have an ultrasound scan first to confirm gestational age and whether you are carrying one or two babies.

NIPT is a simple blood test, but you will also get information from your healthcare provider. Contact your healthcare provider for an appointment. The results are usually available within 10 working days.

NIPT is not yet included in public healthcare in Sweden. Ask your healthcare provider about the cost, which typically includes the ultrasound scan and counselling.

In the section about chromosomal conditions you will find information about the syndromes and links to further information.

Yes. NIPT can be used in twin pregnancies.

If you want to know the sex of the twins, the results will indicate either “2 girls” or “at least one boy” (if Y chromosome is detected).

Note: Some test options are not available for twin pregnancies. Your healthcare provider can advise you on which test packages are suitable.

Yes, NIPT can be used in pregnancies conceived through in vitro fertilization (IVF), including pregnancies with donated eggs (both singleton and twin pregnancies).

For questions that relate to your specific case and personal concerns, it’s best to talk to your healthcare provider.