Genetic screening choices in pregnancy and what is free

Key rules

• Combined test: It is the free first screening step in the public system, but it only estimates risk and does not diagnose.
• Public NIPT: Free NIPT depends on your region and is usually for intermediate-risk results only.
• Diagnostic tests: Amniocentesis and CVS are free with a high-risk result or another medical reason.
• Private NIPT: If you pay privately, ask the clinic for the price and what the panel covers before you book.

The short answer

The combined test is the standard free first step in the public system. NIPT is free only in some regions, and usually only if your combined test gives an intermediate result. Amniocentesis and CVS are free when you have a high-risk result or another medical reason. If you want NIPT without a medical indication, expect to pay privately.

Step 1: the combined test

The combined test screens for Down, Edwards and Patau syndromes. It is a screening, not a diagnosis. It has two parts:

• A blood test, usually in weeks 9 to 12.
• An ultrasound called the nuchal translucency scan, in weeks 11+0 to 13+6. It also measures the baby's crown-rump length.

Software combines both results with your age and history to give a risk figure. If the risk is above your region's cut-off, it counts as high risk. The cut-off is commonly 1 in 270 for Down syndrome. Some regions use 1 in 250 or 1 in 100. Below the cut-off is low risk.

Book the blood draw and the scan close together so the result is ready in time. Your matrona (midwife) or GP arranges both.

Step 2: what happens after the result

Low risk. You need nothing more in the public system.

Intermediate risk. Several regions, including Catalonia, Madrid, Andalusia, Valencia, the Basque Country and Galicia, offer NIPT free at this point. NIPT is a blood test that reads fetal DNA from your blood. The intermediate band is roughly 1 in 270 to 1 in 1000, but it differs by region. Ask the hospital's obstetrics unit whether it is free for you.

High risk. You are offered a diagnostic test. In some regions you are offered free NIPT first.

Step 3: diagnostic tests

Amniocentesis and chorionic villus sampling (CVS) give a firm answer. The public system offers them if:

• you have a high-risk result,
• an ultrasound shows an anomaly,
• you had a previous affected pregnancy, or
• you or your partner carry a known chromosomal or genetic condition.

CVS is done at about weeks 11 to 14. Amniocentesis is done from week 15 or 16, usually weeks 16 to 20.

Both carry a small risk of miscarriage. Older figures are about 0.5 to 1% for amniocentesis and 1 to 2% for CVS. More recent figures are often lower, under 0.5%. Ask the unit that would do the test what its own figure is.

Paying for NIPT privately

If your result is low risk or you have no indication, a private NIPT is the route. Clinics and labs sell it under various brand names. The price depends on three things:

• the provider,
• whether the panel covers only trisomies 21, 18 and 13, or also sex chromosomes and microdeletions,
• whether you are expecting one baby or twins.

Basic panels cost least and extended panels cost more. Ask the clinic for the current price and what the panel covers. A private NIPT is also a screening test, so a positive result still needs a diagnostic test to confirm it.

Your region decides the details

Health care is run by each of Spain's 17 regions. Each publishes its own pregnancy care protocol on its regional health service website, and your matrona or GP can give you a copy. Regions differ on the cut-off, on whether NIPT is offered, and on how many scans you get. Three scans is typical, at weeks 11 to 13, 18 to 21 and 32 to 34. Ask about your region's rules at your first visit, before the combined test window opens.

Use the decision guide, timeline and checklist below to plan your choices.

Choosing between options

Which genetic screening or test should you choose in pregnancy?

• Combined test only: You are in the public system and want standard screening for Down, Edwards and Patau syndromes. It is a screening, not a diagnosis.

• Free NIPT through the public system: Your combined test shows intermediate risk and your region offers NIPT as a second test, or in some cases instead of an invasive test after a high-risk result.

• Private NIPT: Your result is low risk or you have no medical indication, and you want a blood test you pay for yourself. The price depends on the clinic, the panel and whether it is a twin pregnancy.

• Amniocentesis or CVS: You have a high-risk result, an ultrasound anomaly, a previous affected pregnancy or a known parental genetic condition. They give a diagnosis but carry a small miscarriage risk.

Start with the combined test. If the result is low risk, you can stop or pay for a private NIPT. If it is intermediate, ask whether your region funds NIPT. If it is high risk or you have an indication, ask for a diagnostic test.

Timeline and deadlines

• Have the combined test blood draw: between weeks 8 and 13+6, usually weeks 9 to 12

• Have the nuchal translucency ultrasound, which also measures the baby's crown-rump length: between weeks 11+0 and 13+6

• Receive your risk result, calculated from the blood test, the scan, your age and your history: after both the blood test and the scan are done

• If the risk is above your region's cut-off (commonly 1 in 270 for Down syndrome), you are offered a diagnostic test, or in some regions NIPT first: right after a high-risk result

• Have chorionic villus sampling (CVS), if you choose it: at about weeks 11 to 14

• Have amniocentesis, if you choose it: from week 15-16 onward, usually weeks 16 to 20

Checklist

• Book the combined test blood draw for weeks 9 to 12.

• Ask which risk cut-off your region uses and what you are offered above and below it.

• If you want a private NIPT, ask the clinic for the price, what the panel covers and whether the price changes for twins.

• If you get a high-risk result or have an ultrasound anomaly, ask about amniocentesis or CVS and the miscarriage risk at that centre.

Frequently asked questions

Can I get NIPT for free on the public system?

Only in some cases: NIPT is not free for everyone, but several regions offer it at no cost as a second test if your combined test shows intermediate risk. Some regions also offer it instead of an invasive test after a high-risk result. If your result is low risk, you usually pay privately.

How much does a private NIPT cost?

The cost of a private NIPT depends on the clinic, on what the panel covers and on whether you are expecting twins. A basic test for trisomies 21, 18 and 13 is the cheapest, and panels that add sex chromosomes or microdeletions cost more. Ask the clinic for the current price before you book.

What is the miscarriage risk of amniocentesis and CVS?

The miscarriage risk linked to the procedure is commonly quoted as about 0.5-1% for amniocentesis and about 1-2% for CVS (chorionic villus sampling, a placenta sample). Recent figures are often lower, under 0.5%. Ask the centre that would do it for its own figures.

Where do I find my region's pregnancy protocol?

Your region's health service publishes its own pregnancy care pathway on its website, usually under a name like "proceso embarazo, parto y puerperio". Your matrona (midwife) or GP at the health centre can also give it to you.