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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

3 clinical trials for this condition and its sub-types.

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Sub-types

Complete trisomy 18 (0) Mosaic trisomy 18 (0)

Broader categories

Disease (680) Syndromic disease (25) Human disease (14) Aneuploidy (13) Chromosomal disorder (12) Disease of genetic or genomic mechanism (2) Chromosome 18 disorder (1) Autosomal anomaly (0) Disease by body system or component (0) Disease by etiologic mechanism (0)
Trials to join now! 2 Completed 1
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  • Blood test may untangle vanishing twin puzzle to screen the survivor

    Diagnosis Completed

    This study is testing whether a blood test can tell apart the DNA from a vanishing twin and the living twin in pregnancies where one twin stops developing. The goal is to improve non-invasive prenatal screening for chromosome conditions like trisomy 21, 18, and 13 in the survivin…

    Sponsor: Natera, Inc. • Aim: Diagnosis

    Last updated Aug 18, 2026 05:00 UTC

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