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Prenatal diagnosis of Pierre Robin Sequence: accuracy and ability to predict phenotype and functional severity
Author(s) -
Lind Katia,
Aubry MarieCécile,
Belarbi Nadia,
Chalouhi Christel,
Couly Gérard,
Benachi Alexandra,
Lyonnet Stanislas,
Abadie Véronique
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4619
Subject(s) - medicine , pierre robin syndrome , prenatal diagnosis , referral , pediatrics , gestational age , neonatology , fetus , pregnancy , obstetrics , family medicine , biology , genetics
Objective To assess the outcome of fetuses who had sonographic features suggestive of Pierre Robin Sequence (PRS). Method All prenatal ultrasounds that mentioned ‘posterior cleft palate’, or ‘micro or retrognathia’ or ‘PRS’ over 13 and 20 years, respectively, at two obstetrical centers were reviewed. Medical records for children with isolated PRS monitored over 20 years at a PRS referral center for prenatal anomalies and the severity of neonatal feeding and respiratory functional disorders were utilized for comparison. Results From a prenatal ultrasound database of 166 000 cases, 157 had one or more of the sonographic signs suggestive of PRS and had follow‐up available. Of them, 33 (21%) had confirmed PRS, 9 (6%) were normal and 115 (73%) had chromosomal aberrations, associated malformations or neurological anomalies. Visualization of a posterior cleft palate in addition to retro‐micrognathia had a positive predictive value of 100% for PRS. The distribution of functional severity grades was similar in cases suspected prenatally as in 238 cases of PRS followed in the referral center in Necker Hospital. Conclusion Only a minority of cases of fetal retrognathia have complete PRS; the majority have other severe conditions. Prenatal prediction of functional severity of isolated PRS is not possible. © 2015 John Wiley & Sons, Ltd.