Prenatally Diagnosed Binder Phenotype; Implications, Management, and Postnatal Outcome: A Tertiary Centre Experience

Abstract Binder phenotype (nasomaxillary hypoplasia) is a rare craniofacial anomaly with diverse etiologies. This study reviewed fetuses diagnosed antenatally with a Binder phenotype to assess prenatal ultrasound findings, maternal risk factors, the association with CDP, and perinatal outcomes. The aim of the study is to evaluate prenatal ultrasound features, maternal medical history, association with CDP, and pregnancy outcomes in fetuses with an antenatal diagnosis of Binder phenotype. A retrospective review was conducted of 121 fetuses diagnosed with Binder phenotype on prenatal ultrasound between January 2011 and January 2021. Maternal medical histories, genetic investigations, and pregnancy outcomes were obtained from hospital records. Of the 121 cases, 61 (50.4%) had an isolated Binder phenotype and 60 (49.6%) had additional findings. Among the non-isolated cases, 42 (34.7%) had structural anomalies, 18 (14.9%) had soft markers, and 22 (18.2%) had polyhydramnios. CDP was suspected in 18 (14.9%) fetuses, while 23 (19%) underwent genetic testing. Maternal connective tissue disorders were present in 12 (9.9%) pregnancies; two mothers were receiving warfarin, and one was receiving phenytoin. Pregnancy outcomes included 41 (33.9%) live births at our institution, 41 (33.9%) terminations, and 39 (32.2%) cases lost to follow-up. Among the live-born infants, 88% had an uneventful neonatal course. There were two intrauterine fetal deaths and five neonatal deaths. Detection of a Binder phenotype should prompt a detailed fetal anatomical assessment and a careful review of maternal medical and drug histories. Genetic testing may help exclude syndromic causes. An isolated Binder phenotype is generally associated with a favorable prognosis.