Objectives: The aim of this study was to determine pregnancy outcome and investigate infant follow-up after diagnosis of nuchal anomalies at the first or second trimester ultrasound examination in order to identify prognosis factors and improve prenatal counseling.
Patients and methods: Between January 1994 and June 2000, double skin fold 3mm or cystic hygroma at the first trimester ultrasound, or thicken nuchal anomaly at second trimester ultrasound explorations were diagnosed at the Robert Debré maternity ward.
Results: One hundred fifty-nine pregnancies were terminated and 131 infants were delivered and followed with four pediatric examinations during the first two years of life. Among the 131 newborns, 104 (79%) progressed normally, 16 had a major malformation (heart, kidney, skeletal; 9 (6.8%) with a unique anomaly and 7 (5.3%) with malformation syndromes), and 14 (10.6%) presented nonspecific retardation of psychomotor development either alone (7 cases) or associated with an identified genetic syndrome (7 cases).
Discussion: Neonates who presented a nuchal anomaly during pregnancy are a high-risk population, particularly for retardation of psychomotor development which is not always diagnosed during the neonatal period. Careful postnatal follow-up is required to identify developmental disorders undiagnosed at birth.
Conclusion: This series is the largest reported in the literature in terms of number of infants and also for postnatal pediatric follow-up and homogeneous pedratrician follow-up.