OBJECTIVE: To assess the outcome following an ultrasound diagnosis of isolated fetal omphalocele (normal karyotype). METHODS: Ultrasound database (1988-2002) was searched for omphalocele. Categories assigned as (1) isolated-no additional structural/karyotype anomalies, (2) associated minor abnormality, and (3) major structural/karyotype abnormalities. RESULTS: Ultrasound identified 65 cases, 13 with isolated omphalocele and 6 with associated minor anomalies. These 19 cases represented 29.2% of the population (19/65); isolated omphalocele was confirmed in 14 neonates (14/19, 73.7%). In five neonates, unrecognized by prenatal ultrasound were cardiac anomalies (2 cases), tracheoesophageal atresia with cardiac anomaly (1 case), and Beckwith-Wiedemann syndrome (BWS) (2 cases). A minor ultrasound finding did not predict further anomalies at birth. Preterm delivery complicated 37.5%; the only deaths occurred among preterm infants. Follow-up of isolated omphalocele found no long-term medical issues or learning disabilities except speech delay. CONCLUSIONS: Isolated fetal omphalocele is the exception. An additional minor ultrasound finding does not impact a relatively good prognosis with little long-term morbidity. However, this series highlights two areas of caution: (1) one-third were delivered preterm with a 50% rate of demise and (2) in a quarter of cases, an additional major anomaly or BWS was identified in the neonate.
OBJECTIVE: To assess the outcome following an ultrasound diagnosis of isolated fetal omphalocele (normal karyotype). METHODS: Ultrasound database (1988-2002) was searched for omphalocele. Categories assigned as (1) isolated-no additional structural/karyotype anomalies, (2) associated minor abnormality, and (3) major structural/karyotype abnormalities. RESULTS: Ultrasound identified 65 cases, 13 with isolated omphalocele and 6 with associated minor anomalies. These 19 cases represented 29.2% of the population (19/65); isolated omphalocele was confirmed in 14 neonates (14/19, 73.7%). In five neonates, unrecognized by prenatal ultrasound were cardiac anomalies (2 cases), tracheoesophageal atresia with cardiac anomaly (1 case), and Beckwith-Wiedemann syndrome (BWS) (2 cases). A minor ultrasound finding did not predict further anomalies at birth. Preterm delivery complicated 37.5%; the only deaths occurred among preterm infants. Follow-up of isolated omphalocele found no long-term medical issues or learning disabilities except speech delay. CONCLUSIONS: Isolated fetal omphalocele is the exception. An additional minor ultrasound finding does not impact a relatively good prognosis with little long-term morbidity. However, this series highlights two areas of caution: (1) one-third were delivered preterm with a 50% rate of demise and (2) in a quarter of cases, an additional major anomaly or BWS was identified in the neonate.
Authors: Frédéric Brioude; Jennifer M Kalish; Alessandro Mussa; Alison C Foster; Jet Bliek; Giovanni Battista Ferrero; Susanne E Boonen; Trevor Cole; Robert Baker; Monica Bertoletti; Guido Cocchi; Carole Coze; Maurizio De Pellegrin; Khalid Hussain; Abdulla Ibrahim; Mark D Kilby; Malgorzata Krajewska-Walasek; Christian P Kratz; Edmund J Ladusans; Pablo Lapunzina; Yves Le Bouc; Saskia M Maas; Fiona Macdonald; Katrin Õunap; Licia Peruzzi; Sylvie Rossignol; Silvia Russo; Caroleen Shipster; Agata Skórka; Katrina Tatton-Brown; Jair Tenorio; Chiara Tortora; Karen Grønskov; Irène Netchine; Raoul C Hennekam; Dirk Prawitt; Zeynep Tümer; Thomas Eggermann; Deborah J G Mackay; Andrea Riccio; Eamonn R Maher Journal: Nat Rev Endocrinol Date: 2018-01-29 Impact factor: 43.330
Authors: Wendy N Nembhard; Jorieke E H Bergman; Maria D Politis; Jazmín Arteaga-Vázquez; Eva Bermejo-Sánchez; Mark A Canfield; Janet D Cragan; Saeed Dastgiri; Hermien E K de Walle; Marcia L Feldkamp; Amy Nance; Miriam Gatt; Boris Groisman; Paula Hurtado-Villa; Kärin Kallén; Danielle Landau; Nathalie Lelong; Jorge Lopez-Camelo; Laura Martinez; Margery Morgan; Anna Pierini; Anke Rissmann; Antonin Šípek; Elena Szabova; Giovanna Tagliabue; Wladimir Wertelecki; Ignacio Zarante; Marian K Bakker; Vijaya Kancherla; Pierpaolo Mastroiacovo Journal: Birth Defects Res Date: 2020-10-17 Impact factor: 2.661