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Trisomy 18

MONDO:0018071

Trisomy 18 is a chromosomal abnormality associated with the presence of an extra chromosome 18 and characterized by growth delay, dolichocephaly, a characteristic facies, limb anomalies and visceral malformations.

Also known as: E3 trisomy, Edwards syndrome, chromosome 18 duplication, complete trisomy 18 syndrome, trisomy 18, trisomy type 18, 18 trisomy, chromosome 18 trisomy

5 clinical trials for this condition and its sub-types, 3 tagged with Trisomy 18 itself.

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Where it sits in the disease tree

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Part of

↑ Syndromic disease (7158) ↑ Trisomy (24) ↑ Chromosome 18 disorder (4)

Sub-types of Trisomy 18

Complete trisomy 18 0 trials
Mosaic trisomy 18 0 trials

Including sub-types (5) Tagged with Trisomy 18 (3)

Trials to join now! 1 Not yet recruiting 1 Completed 1

New prenatal blood test aims to detect genetic disorders without invasive procedures

Diagnosis Recruiting now

This study is testing a new blood test that looks for fetal cells in the mother's blood to detect genetic conditions like Down syndrome. The test will be compared to standard diagnostic methods such as amniocentesis or newborn testing. The study involves 1,000 pregnant individual…

Sponsor: BillionToOne Inc. • Aim: Diagnosis

Last updated Jun 27, 2026 13:06 UTC

Trisomy 18

Where it sits in the disease tree

New prenatal blood test aims to detect genetic disorders without invasive procedures