Prenatal diagnosis of total arhinia associated with normal chromosomal analysis: a case report.
BACKGROUND
Complete, congenital arhinia is a rare condition characterized by total absence of the nose and generally associated with other facial anomalies, including absence of the underlying nasal structures and frontal sinuses. There have been 2 case reports of prenatal diagnosis of arhinia in the second and early third trimesters. To our knowledge, however, this is the first case of total arhinia suspected prenatally with an associated normal chromosomal microarray.


METHODS
A 20-year-old primigravida presented for her first obstetric ultrasound evaluation at 27 weeks' gestation. Ultrasound was limited by maternal habitus but revealed a flattened midface with an abnormal profile. Repeat ultrasound at 38 weeks showed a flattened midface without a distinguishable fetal nose. The diagnosis of complete arhinia was confirmed at delivery. Chromosomal analysis revealed a 46,XX karyotype, with normal 500K SNP microarray.


CONCLUSIONS
This report reviews both the diagnosis of arhinia and the associated neonatal care and outcome. Arhinia should be considered when the fetal profile appears to have a flattened midface and a prominent upper lip. Diagnosis may be aided by third or fourth ultrasound imaging. Due to neonatal airway issues, delivery with pediatric support available is recommended if the condition is suspected prenatally.
Thornburg
Loralei L
LL
Division of Maternal Fetal Medicine, Department of Obstetrics and Gynecology, University of Rochester Strong Memorial Hospital, Rochester, New York, USA. loralei_thornburg@urmc.rochester.edu
Christensen
Nathan
N
Laroia
Nirupama
N
Pressman
Eva K
EK
D002875:Chromosomes / Q000235:genetics; D000013:Congenital Abnormalities / Q000000981:diagnostic imaging* / Q000235:genetics; D005260:Female; D005820:Genetic Testing; D006801:Humans; D009666:Nose / Q000002:abnormalities* / Q000000981:diagnostic imaging*; D011247:Pregnancy; D011262:Pregnancy Trimester, Second; D016216:Ultrasonography, Prenatal; D055815:Young Adult