Long-Term Outcome of Fetuses with Soft Marker and Without Genetic or Structural Abnormality.

PURPOSE: To determine long-term outcome of infants with isolated or multiple soft markers but no structural or chromosomal abnormalities.

METHODS: A retrospective study of 78 pregnant women who were referred for amniocentesis and found to have soft markers including echogenic intracardiac focus/foci (EIF), echogenic bowel (EB), unilateral or bilateral choroid plexus cysts, (UCPCs or BCPCs) mild pyelectasis and single umbilical artery but no structural anomalies and outcomes of the liveborns with a 4- to 9-year follow-up was conducted.

RESULTS: Among 28 fetuses with EIF, allergic asthma and epilepsy were diagnosed in two liveborns. We followed up nine pregnancies with EB, epilepsy was present in one case. Allergic asthma was detected in both UCPCs and BCPCs, whereas epilepsy and attention-deficit/hyperactivity disorder (ADHD) were diagnosed in two liveborns with BCPCs. Twelve liveborns with multiple soft markers were evaluated; no pathology was detected in most of them except one case of allergic asthma, one case of hearing impairment and one case of ADHD.

CONCLUSIONS: This study shows longer-term favorable outcomes of the liveborns with isolated or multiple soft markers without any aneuploidy and may provide insight into this debated point.