Prevalence of defined ultrasound findings of unknown significance at the second trimester fetal anomaly scan and their association with adverse pregnancy outcomes: the Welsh study of mothers and babies population‐based cohort

Abstract

ObjectiveThe aim of this article was to estimate the population prevalence of seven defined ultrasound findings of uncertain significance (‘markers’) in the second trimester and the associated risk of adverse pregnancy outcomes.MethodA prospective record‐linked cohort study of 30 078 pregnant women who had second trimester anomaly scans between July 2008 and March 2011 in Wales was conducted.ResultsThe prevalence of markers ranged from 43.7 per 1000 singleton pregnancies for cardiac echogenic foci [95% confidence interval (CI): 38.8, 51.1] to 0.6 for mild‐to‐moderate ventriculomegaly (95% CI: 0.3, 1.0). Isolated echogenic bowel was associated with an increased risk of congenital anomalies [risk ratio (RR) 4.54, 95% CI: 2.12, 9.73] and preterm birth (RR 2.30, 95% CI: 1.08, 4.90). Isolated pelvicalyceal dilatation was associated with an increased risk of congenital anomalies (RR 3.82, 95% CI: 2.16, 6.77). Multiple markers were associated with an increased risk of congenital anomalies (RR 5.00, 95% CI: 1.35, 18.40) and preterm birth (RR 3.38, 95% CI 1.20, 9.53).ConclusionsThese data are useful for counselling families and developing clinical guidance and care pathways following the detection of markers in clinical practice, particularly the need for follow‐up scans to monitor placental function and growth in pregnancies with isolated echogenic bowel, and further investigation for multiple markers. © 2015 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.

Clinical significance of sonographic soft markers: A review

“…Thickened NF is defines as, thickening of the skin and the subcutaneous tissues on the posterior aspect of the fetal neck measuring 6 mm or greater before 20+6 weeks' gestation. Its prevalence is 1 to 6 per 1,000 [3]. Bromley et al [10] concluded in their retrospective study, that especially thickened NF in second trimester is the most important soft marker in the detection of Down syndrome among fetuses who have had normal first trimester sonographic screening for aneuploidy [6].…”

“…Echogenic bowel resolves spontaneously in 19.7% of cases and the association with Down syndrome reported likelihood ratio of 5.5 to 6.7 [13]. Echogenic bowel has been described as normal variant, but may be associated with congenital viral infections (particularly CMV), aneuploidy, intra-amniotic bleeding, severe uteroplacental insufficiency, meconium peritonitis, cystic fibrosis , anemia, and fetal growth restriction (FGR) [3,6,13]. Therefore, a comprehensive examination and evaluation for CMV infection is suggested, in addition to correlation with aneuploidy testing results.…”

“…In past several decades, ultrasound screening during the second trimester to identify fetal anomalies has developed and improved remarkably. Some sonographic findings are structural signs with little or no pathological significance, commonly known as soft markers [1][2][3]. Generally studied soft markers include fetal ventriculomegaly (VM) , choroid plexus cyst (CPC), absent or hypoplastic nasal bone, a thickened nuchal fold (NF), intracardiac echogenic focus (IEF), echogenic bowel, short long bones, pyelectasis, and single umbilical artery (SUA).…”

“…Isolated pyelectasis was associated with an increased risk of congenital anomalies of the kidneys or urinary tract. Multiple soft markers were associated with an increased risk of congenital anomalies and preterm birth [3,6,[12][13][14][15]. It is essential to provide information to the parents about the observed soft markers and its potential impact on prenatal and postnatal life.…”

“…It is essential to provide information to the parents about the observed soft markers and its potential impact on prenatal and postnatal life. This paper will review recent literatures about the most common second trimester sonographic soft markers and propose a simple clinical guideline for management of specific soft markers in pregnancies (Table 1) [3,6,10, .…”