title: Aberrant Right Subclavian Artery: Correlation Between Fetal and Neonatal Abnormalities and Abnormal Genetic Screening or Testing.
abstract: OBJECTIVE
  To determine whether fetuses with an isolated aberrant course of the right subclavian artery (ARSA) have increased risk for chromosomal abnormalities, including trisomy 21 or 22q11 deletion.
  
  
  METHODS
  We performed a retrospective chart review of all fetuses with antenatally diagnosed ARSA. Data were collected from fetal anatomic surveys, fetal echocardiograms, noninvasive trisomy 21 screening programs, invasive genetic studies, and neonatal records.
  
  
  RESULTS
  Seventy-nine fetuses with ARSA were identified at 20.3 ± 3.8 weeks' gestation. Forty-eight fetuses underwent chromosomal evaluation. Of those, seven had trisomy 21. Four other fetuses had unusual karyotype abnormalities. All fetuses with genetic anomalies had additional aberrant ultrasound findings. There were three spontaneous fetal deaths (trisomy 21-2 and Wolf-Hirshhorn-1). Nine pregnancies were terminated because of abnormalities and one died as a result of hypoplastic left heart syndrome. No neonate was found or suspected to have 22q11.2 deletion. The ARSA was isolated in 43 fetuses; all had unremarkable neonatal outcomes, and none were readmitted within 6 months after discharge.
  
  
  CONCLUSIONS
  As an apparently isolated finding, ARSA is benign and not associated with trisomy 21 or 22q11.2 deletion. The finding of ARSA, however, warrants a detailed fetal ultrasound. All fetuses with ARSA and genetic anomalies had additional ultrasound findings.
authors.affiliation: Department of Obstetrics and Gynecology, Saint Peter's University Hospital, New Brunswick, New Jersey, USA.
authors.forename: Angela C
authors.initials: AC
authors.lastname: Ranzini
authors.affiliation: Department of Obstetrics and Gynecology, Saint Peter's University Hospital, New Brunswick, New Jersey, USA.
authors.forename: Francine
authors.initials: F
authors.lastname: Hyman
authors.affiliation: Department of Obstetrics and Gynecology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Emily
authors.initials: E
authors.lastname: Jamaer
authors.affiliation: Department of Obstetrics and Gynecology, University Hospitals Leuven, Leuven, Belgium.
authors.forename: Tim
authors.initials: T
authors.lastname: van Mieghem
mesh_terms: D000783:Aneurysm / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology*; D018376:Cardiovascular Abnormalities / Q000150:complications / Q000000981:diagnostic imaging* / Q000196:embryology*; D004314:Down Syndrome / Q000150:complications / Q000175:diagnosis*; D004452:Echocardiography / Q000379:methods*; D005260:Female; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D011247:Pregnancy; D012189:Retrospective Studies; D013348:Subclavian Artery / Q000002:abnormalities* / Q000000981:diagnostic imaging / Q000196:embryology; D016216:Ultrasonography, Prenatal / Q000379:methods*
keywords: 22q11.2 deletion; aberrant right subclavian artery; aneuploidy; cell-free fetal DNA; chromosomes; prenatal diagnosis