OC27.04: Utility of infectious and cystic fibrosis workup in prenatal diagnosis of echogenic intra‐abdominal structures

Abstract

To evaluate the incidence of neonatal congenital and infectious outcomes for patients diagnosed with fetal echogenic intra-abdominal structure (EIAS). This is a retrospective cohort study of patients diagnosed with EIAS during anatomical survey ultrasound at a high-volume maternal fetal medicine centre from January 2015-December 2017. EIAS was defined as an echogenic structure in the fetal abdomen >1 mm, and was evaluated by location. Charts were abstracted to determine rates of testing for cystic fibrosis (CF) and infection. Neonatal diagnoses of CF, congenital infection, small for gestational age (SGA), and postpartum bowel findings were evaluated. There were 128 fetuses with EIAS: 110 resulted in live births, 15 terminated the pregnancy (median GA 20.6 weeks) and 3 had intrauterine fetal demise (median GA 20.2 weeks). Sixty-one (47.7%) subjects had CF testing, and there were no fetuses with both partners testing positive on carrier screening. There were also no cases of CF in the 110 live births. Eighty-three (64.8%) mothers were tested antenatally for TORCH infections. Four (4.8%) had positive IgM (3 CMV, 1 Toxoplasma) resulting in amniocentesis, with no cases of fetal infection. No neonates were diagnosed with congenital TORCH infections. Thirteen (10.1%) had a birth weight of <2500g, and of these, 53.8% were preterm. There was no statistical difference in SGA and prematurity between fetuses with echogenic bowel and EIAS. There were three significant neonatal bowel findings (2.7%): one neonate had a meconium plug, one neonate had an imperforate anus requiring anoplasty, and one neonate had a known diagnosis of omphalocele, with no statistical difference between echogenic bowel and EIAS. This study suggests the actual rates of CF or infections in prenatal diagnoses of EB or EIAS may be less than previously thought. The necessity of infection and CF work-up, particularly with newer sequencing technology, needs to be reassessed in larger populations.