Pierre Robin Sequence: Prenatal Diagnosis and Counseling Offers Superior Family Psychosocial Outcomes to “Birthday Surprise”

Abstract

Background: Prenatal 3D and 4D ultrasound provide impressive anatomic detail which aid in craniofacial diagnosis. When micrognathia is detected in utero (suggestive of Pierre Robin Sequence), opportunities for prenatal counseling may provide important information for families. However, the psychosocial implications have not been well studied. Methods: Perinatal newborns diagnosed with Pierre Robin Sequence were grouped into (1) those diagnosed prenatally via ultrasound screening and had extensive multidisciplinary counseling: and (2) those not diagnosed prenatally (“birthday- surprise”) (n = 31). The 2 groups were also subdivided into isolated Pierre Robin Sequence (PRS)-Isolated, PRS-Plus (additional anomalies), or PRS syndromic and compared. PROMIS (Patient-Reported Outcomes Measurement Information System) surveys given at 6 weeks after birth were used to compare psychosocial scores from families of these 2 groups. Results: The prenatal diagnosed families with counseling (PRS treatment algorithm, feeding, and surgical options) reported less anxiety (61% ± 3 vs 74% ± 4), less depression (58% ± 3 vs 72% ± 5), and less feelings of social isolation (57% ± 2 vs 68% ± 3) than postnatal diagnosed families with no counseling (numbers based on the standard deviation from US population mean of 50). When the groups were subdivided and compared, this difference in psychosocial indicators between prenatal diagnosis and postnatal diagnosis (“Birthday Surprise”) was more profound in families with PRS-Plus and PRS-syndromic babies than with PRS-Isolated babies. In addition, there was a delay in surgical treatment for the “Birthday Surprise” patients (32 ± 5 vs 13 ± 2 days). Conclusions: Prenatal imaging diagnosis coupled with prenatal counseling offer improved psychosocial indicators for families of newborns with Pierre Robin Sequence.