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Fetal/neonatal ascitis

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How to approach fetal/ neonatal ascitis with perihepatic calcification? 

FT , AGA, 3.8 kg born via elective cs to G1Pnow 1 didn’t need resuscitation, no distress , VS NORMAL & stable , passed urine & meconium. Systemic exam. is remarkable for abdominal enlargement, umbilical hernia & huge bilateral hydrocele . Lab WNR , imaging: abd US & CT REVEALED free fluid & peri hepatic & perisplenic calcification. Tolerated feeding . 

Prenatal 4D revealed isolated ascitis 


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My differential in cases like this includes meconium peritonitis (obviously not what your baby has), infection/TORCH, chromosomal (quite common once you've excluded the previous two), Metabolic (Lysosomal storage disorders and peroxisomal biogenesis disorders most notably), endocrinopathy (primary or paraneoplastic) with ectopic calcification, vascular calcification (of which some may be due to mendelian disorders).  Additional history I would request would be pregnancy exposures/infections and family history including potential consanguinity.

In terms of ICU management, in resource limited settings, almost none of these evaluations need to be done in the ICU.  Assuming the child was near intact and well appearing, feeding and otherwise ready to discharge soon, I would check an ECHO (if available) for structure, function and effusion and review X-rays for evidence of metabolic disease.  The app face2gene has a function where you can upload  X-ray images if you do not have local expertise in reviewing x-rays for these signs.  You said 'labs WNR' but I would double check that the Ca and P were not borderline and in need of repeat before discharge, and that transaminases and the total and direct bill are reassuring.  I would collect the relevant infectious studies during the index hospitalization, especially CMV, in order to better interpret congenital vs acquired exposures.

Things you could defer to outpatient (many of which I would do in the US during the index hospitalization) would be karyotype or (preferably) microarray with SNP probes for potential regions of homozygosity, metabolic studies for lysosomal storage disease and peroxisomal defects, Endocrine evaluation of PTH axis, vascular imaging and consideration of related single gene disorders (most notably GACI, generalized arterial calcification of infancy).

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