Closed pnrobinson closed 2 years ago
@carlotarodo, @DominicIliescu - Good day! We are all slowly trickling back from well needed vacation breaks, hoping to dive back into our prenatal project! If you could review, and comment on the above term, it would be greatly appreciated. Thank you in advance for your cooperation and help.
This is an extremely uncommon feature. If seen, it wouldn't be related to ichthyosis, but to an unespecific finding with low impact on the fetus.
This can be a normal finding especially in third trimester. However, second-trimester finding is more suspicious. Needs more discussion.
Hi Peter, I found this in the literature, and thought it may help in this term: Gastric pseudo-mass — In the second and third trimesters, debris is commonly visualized in the fetal stomach as a pseudo-mass consisting of discrete echogenic areas 4 to 12 mm in diameter The pseudo-mass is thought to represent swallowed cells (red blood cells, meconium, fetal skin cells) that have aggregated due to relatively poor gastric peristaltic activity early in the second trimester Gastric pseudo-masses resolve over time and are not associated with adverse neonatal outcome.
SInce the 'debris' may be sloughed off skin cells, this may explain why it was seen in your cases of ichthiosis.
On Wed, Oct 6, 2021 at 10:05 AM Peter Robinson @.***> wrote:
This can be a normal finding especially in third trimester. However, second-trimester finding is more suspicious. Needs more discussion.
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Thanks, @patt1morgan I added this (even though the clinical utility may be low, it is an abnormal phenotype that people may want to record).
Preferred term label: Echogenic debris filled stomach
Synonyms
Definition (free text, please give PubMed ID) Sediment within the fetal stomach that is visualized as echogenic debris by fetal sonography.
Parent term (use hpo.jax.org/app) Abnormality of prenatal development or birth HP:0001197 ? Better parent term
Diseases characterized by this term ? (e.g. Orphanet or OMIM number) Ichthyosis prematurity syndrome | 608649
PMID:21856041 (no frequency)
Your nano-attribution (ORCID)