Guide

NIPT microdeletions explained

Microdeletions are tiny missing pieces of a chromosome. Some cause genetic conditions, such as 22q11.2 deletion (DiGeorge) syndrome. Our Advance and Absolute NIPT tests screen for them.

  • From 10 weeks
  • No risk to baby
  • Results in about 5 working days
  • No GP referral

Are microdeletions common?

Each one is rare, but together they’re not unusual. Unlike Down’s syndrome, the chance of a microdeletion doesn’t increase with the mother’s age.

How accurate is microdeletion screening?

Less accurate than screening for the main trisomies. Studies show a large share of higher-chance microdeletion results turn out to be false positives, so a diagnostic test is always needed to confirm.

Advance or Absolute?

Advance screens for 6 common microdeletions and Absolute for 92. Absolute covers more conditions, but more screening also means a slightly higher chance of a result that needs follow-up. Ask us for the full list of conditions for each test.

Is it right for me?

Many parents choose Standard. Some prefer the extra information. There’s no wrong choice. If you’re unsure, call us and we’ll talk it through.

Our NIPT tests

Help me choose

Would you like screening for microdeletions as well as the main conditions?

What’s screenedMost chosenStandard£295 Advance£345Widest screenAbsolute£425
Down’s syndrome (trisomy 21)✓✓✓
Edwards’ syndrome (trisomy 18)✓✓✓
Patau’s syndrome (trisomy 13)✓✓✓
Sex chromosome conditions: Turner, Klinefelter, Jacobs (XYY) and Triple X✓✓✓
Baby’s sex (optional)✓✓✓
6 common microdeletions–✓✓
92 microdeletions––✓
Results in about 5 working daysBookBookBook
Please note: this guide is general information. NIPT is a screening test and doesn’t replace advice from your midwife or doctor.

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