title: Simplifying the ultrasound findings of the major fetal chromosomal aneuploidies.
abstract: Sonographic aneuploidy markers and structural anomalies associated with the 5 most common chromosomal aneuploidies are organized and simplified to highlight the many sonographic findings that are commonly seen with each aneuploidy. Identification of these findings allows families to have the option to pursue prenatal genetic testing to confirm or exclude chromosomal abnormalities suggested by such prenatal ultrasound findings and make informed decisions about the subsequent management of their pregnancy. We review the most common major human chromosomal aneuploidies, including trisomies 21, 18, and 13; Turner syndrome; and triploidy. The focus is on the major structural anomalies seen with each of these, as well as ultrasound markers (findings associated with increased risk of chromosomal abnormality but also seen in normal fetuses). The role of clinical information such as maternal serum screening and new cell-free fetal DNA screening is also reviewed. As patients do not usually present for fetal ultrasound with a known diagnosis, a concise knowledge of ultrasound and clinical findings will alert radiologists to concerning cases and prompt a guided search for important associated anomalies. Fetal ultrasound can be challenging owing to the many findings and sometimes technically difficult evaluation. By simplifying the ultrasound findings seen with the major chromosomal abnormalities and highlighting the role of clinical history, we hope that an informed search for specific sonographic findings can be performed; thereby, reducing missed diagnoses.
authors.affiliation: Maternal-Fetal Care and Genetics, University of California, San Diego, San Diego, CA; Department of Radiology, University of California, San Diego, San Diego, CA.
authors.forename: Joy
authors.initials: J
authors.lastname: Liau
authors.affiliation: Maternal-Fetal Care and Genetics, University of California, San Diego, San Diego, CA; Department of Radiology, University of California, San Diego, San Diego, CA.
authors.forename: Lorene
authors.initials: L
authors.lastname: Romine
authors.affiliation: Maternal-Fetal Care and Genetics, University of California, San Diego, San Diego, CA; Department of Genetics, University of California, San Diego, San Diego, CA.
authors.forename: Lauren A
authors.initials: LA
authors.lastname: Korty
authors.affiliation: Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA.
authors.forename: Cherng
authors.initials: C
authors.lastname: Chao
authors.affiliation: Maternal-Fetal Care and Genetics, University of California, San Diego, San Diego, CA.
authors.forename: Katherine
authors.initials: K
authors.lastname: White
authors.affiliation: Department of Obstetrics and Gynecology, Rush University Medical Center, Chicago, IL.
authors.forename: Sheena
authors.initials: S
authors.lastname: Harmon
authors.affiliation: University of California, San Diego, School of Medicine, San Diego, CA.
authors.forename: Yoona
authors.initials: Y
authors.lastname: Ho
authors.affiliation: Maternal-Fetal Care and Genetics, University of California, San Diego, San Diego, CA; Department of Reproductive Medicine, University of California, San Diego, San Diego, CA.
authors.forename: Andrew D
authors.initials: AD
authors.lastname: Hull
authors.affiliation: Maternal-Fetal Care and Genetics, University of California, San Diego, San Diego, CA; Department of Radiology, University of California, San Diego, San Diego, CA. Electronic address: dpretorius@ucsd.edu.
authors.forename: Dolores H
authors.initials: DH
authors.lastname: Pretorius
mesh_terms: D000782:Aneuploidy; D015415:Biomarkers / Q000032:analysis; D018997:Chorionic Gonadotropin, beta Subunit, Human / Q000032:analysis*; D042241:Early Diagnosis; D005260:Female; D005820:Genetic Testing; D005865:Gestational Age; D006801:Humans; D048208:Nuchal Translucency Measurement / Q000379:methods*; D011247:Pregnancy; D011266:Pregnancy-Associated Plasma Protein-A / Q000032:analysis*; D011871:Radiology; D016216:Ultrasonography, Prenatal
chemical_list: D015415:Biomarkers; D018997:Chorionic Gonadotropin, beta Subunit, Human; D011266:Pregnancy-Associated Plasma Protein-A