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The Human Phenotype Ontology (HPO) is downloaded weekly from The file downloaded is considered the "last stable build" available for the ontology. For more about the HPO, view their website at

Term:Fetal ultrasound soft marker
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Accession:HP:0011425 term browser browse the term
Definition:An finding upon obstetric ultrasound examination performed at around 16 to 20 weeks of gestation that is abnormal but not clearly identifiable as a fetal anatomic malformation or growth restriction. Such findings are known as soft markers since they are associated with increased risk for fetal aneuploidy or other disorders.
Comment:The screening ultrasound at 16 to 20 weeks should evaluate 8 markers, 5 of which (thickened nuchal fold, echogenic bowel, mild ventriculomegaly, echogenic focus in the heart, and choroid plexus cyst) are associated with an increased risk of fetal aneuploidy, and in some cases with nonchromosomal problems, while 3 (single umbilical artery, enlarged cisterna magna, and pyelectasis) are only associated with an increased risk of nonchromosomal abnormalities when seen in isolation (PMID:16100637).
Synonyms:exact_synonym: Foetal ultrasound soft marker
 xref: UMLS:C4023366

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  Human phenotype 0
    Phenotypic abnormality 0
      Abnormality of prenatal development or birth 0
        Fetal anomaly 0
          Abnormal fetal morphology 0
            Fetal ultrasound soft marker 0
              Absence of stomach bubble on fetal sonography 0
              Echogenic fetal bowel 0
              Echogenic intracardiac focus 0
              Enlarged fetal cisterna magna 0
              Fetal choroid plexus cysts 0
              Fetal fifth finger clinodactyly 0
              Fetal pyelectasis + 0
              Hypoplasia of fetal nasal bone 0
              Mild fetal ventriculomegaly 0
              Short fetal femur length 0
              Short fetal humerus length 0
              Single umbilical artery 0
              Thickened nuchal skin fold 0
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