(Abstracted from Ultrasound Obstet Gynecol 2019;53:503–511)
Ultrasound examination, particularly the midtrimester morphology scan, and fetal chromosome analysis provide opportunities for specialist assessment, genetic testing, and perinatal management of pregnancies complicated by fetal anomalies. Advances such as fetal nuchal translucency measurement as part of the combined first-trimester screening (CFTS) test for trisomies 21, 13, and 18; maternal plasma cell-free (cf) DNA-based screening for common aneuploidies; and prenatal diagnosis with chromosomal microarray (CMA) analysis have helped further genetic testing of fetal anomalies.
MD Undergraduate Program, University of British Columbia (E.L.), Vancouver, British Columbia, Canada; and Reproductive Epidemiology, Murdoch Children's Research Institute (A.P., J.H., L.H.), Parkville; Departments of Paediatrics (J.H.) and Obstetrics and Gynaecology, University of Melbourne, Parkville (L.H.); Department of Perinatal Medicine, Mercy Hospital for Women, Heidelberg (L.H.); and Department of Obstetrics and Gynaecology, The Northern Hospital, Epping (L.H.), Victoria, Australia