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Prenatal screening guide · 2026
Panels differ enormously between laboratories. Knowing what is on yours — and what is missing from all of them — is worth five minutes before booking.
Standard NIPT screens for trisomy 21, trisomy 18 and trisomy 13, and usually reports sex chromosome differences such as Turner syndrome (45,X), Klinefelter syndrome (47,XXY), triple X and XYY. Expanded panels may add microdeletions and rare autosomal trisomies. Performance falls as conditions become rarer: detection is strongest for trisomy 21 and weakest for microdeletions, where most positive results are false. NIPT does not screen for structural abnormalities, neural tube defects, single-gene conditions such as thalassaemia, or most chromosomal rearrangements.
| Core panel | Trisomies 21, 18 and 13 |
|---|---|
| Usually included | Sex chromosome differences — lower positive predictive value |
| Optional | Microdeletions and rare autosomal trisomies — contested value |
| Not covered | Structural abnormalities, neural tube defects, single-gene conditions |
| Test type | A screening test — it estimates risk and does not diagnose |
| Price | Listed on the MedEx NIPT service page; confirm before booking as panels differ |
Trisomy 21 (Down syndrome) is the most common autosomal trisomy at birth and the condition NIPT was developed to detect. Detection rates exceed 99% in published studies, and the positive predictive value is the highest of the panel, rising with maternal age.
Trisomy 18 (Edwards syndrome) is less common and associated with major structural abnormalities and a poor prognosis. Detection is high; positive predictive value is lower than for trisomy 21.
Trisomy 13 (Patau syndrome) is rarer again, and this is where the arithmetic bites: a meaningful share of high-risk results are false positives. It is also one of the conditions associated with lower fetal fraction, which can complicate testing — see the fetal fraction guide.
The pattern is consistent: as a condition becomes rarer, the chance that a positive result is genuine falls, even though the test itself has not changed. The arithmetic is explained in the NIPT accuracy guide.
| 45,X (Turner syndrome) | Associated with short stature, ovarian insufficiency and sometimes cardiac or renal features. NIPT has the highest false positive rate here of the sex chromosome group. |
|---|---|
| 47,XXY (Klinefelter syndrome) | Often associated with infertility and variable features; many individuals are diagnosed only in adulthood, or never. |
| 47,XXX (triple X) | Frequently causes no notable features; many people are never diagnosed. |
| 47,XYY | Similarly, often without notable features. |
Two things are worth understanding before opting in. First, false positives are more common than for trisomy 21, frequently arising from confined placental mosaicism or from an undiagnosed maternal sex chromosome variation — occasionally NIPT identifies a difference in the mother rather than the baby. Second, the clinical outcomes for several of these conditions are highly variable and often mild, which makes the information harder to act on than people expect.
This is a genuine reason to discuss whether you want sex chromosome reporting before testing. A specialist teleconsultation is the right setting.
Check exactly what is on the panel before you book.
Some laboratories offer screening for microdeletion syndromes such as 22q11.2 deletion (DiGeorge), and for rare autosomal trisomies.
Professional bodies do not agree here. ACOG has advised against routine microdeletion screening on the grounds of insufficient evidence and low positive predictive value. ACMG has taken a more supportive position specifically for 22q11.2, which is the most common microdeletion and has real clinical consequences. Both positions are defensible, and the disagreement is genuine rather than a matter of one side being out of date.
What is not contested is the arithmetic. Because microdeletions are rare, positive predictive values are low — often meaning most positive results are false. Anyone opting in should understand that a positive result is more likely to lead to an invasive diagnostic procedure that turns out normal than to a genuine finding.
Ask specifically what is on the panel you are being offered through the MedEx NIPT service, and what a positive would mean in practice.
A complete prenatal plan combines NIPT, ultrasound and, where relevant, carrier screening. See the prenatal testing pathway guide.
Trisomy 21, trisomy 18 and trisomy 13 as standard, usually with sex chromosome differences such as Turner and Klinefelter syndromes. Expanded panels may add microdeletions and rare autosomal trisomies.
No. It does not screen for structural abnormalities such as heart defects or cleft lip and palate, nor for neural tube defects. Ultrasound covers these.
No. Thalassaemia is a single-gene condition requiring carrier screening, which is separate from NIPT and particularly relevant in Thailand where carriage is common.
Professional bodies disagree. ACOG has advised against routine microdeletion screening on evidence grounds, while ACMG supports screening specifically for 22q11.2. Because microdeletions are rare, most positive results are false, so understand what a positive would lead to before opting in.
False positives are more common, often from confined placental mosaicism or from an undiagnosed sex chromosome variation in the mother. Outcomes for several of these conditions are also highly variable, which makes the information harder to act on.
Most methods detect triploidy poorly or not at all, which is one reason ultrasound remains an essential part of prenatal assessment.
A complete plan is NIPT plus ultrasound plus carrier screening.
Medical disclaimer: This article is general health information and does not replace medical advice, diagnosis or treatment. Laboratory reference ranges differ between laboratories and results must be interpreted alongside your symptoms, medicines and medical history. Speak with a qualified clinician before starting, stopping or changing any treatment. Service details, inclusions and prices can change — confirm them with MedEx before booking.
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