title: The role of ultrasound in women who undergo cell-free DNA screening.
abstract: The introduction of cell-free DNA screening for aneuploidy into obstetric practice in 2011 revolutionized the strategies utilized for prenatal testing. The purpose of this document is to review the current data on the role of ultrasound in women who have undergone or are considering cell-free DNA screening. The following are Society for Maternal-Fetal Medicine recommendations: (1) in women who have already received a negative cell-free DNA screening screen, ultrasound at 11-14 weeks of gestation solely for the purpose of nuchal translucency measurement (Current Procedural Terminology code 76813) is not recommended (grade 1B); (2) we recommend that diagnostic testing should not be recommended to patients solely for the indication of an isolated soft marker in the setting of a negative cell-free DNA screen (grade 2B); (3) in women with an isolated soft marker without other clinical implications (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative cell-free DNA screen, we recommend describing the finding as not clinically significant or as a normal variant (grade 2B); (4) in women with an isolated soft marker that has no other clinical implication (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative first- or second-trimester screening result, we recommend describing the finding as not clinically significant or as a normal variant (grade 2B); (5) we recommend that all women in whom a structural abnormality is identified by ultrasound should be offered diagnostic testing with chromosomal microarray (grade 1A); and (6) we recommend against routine screening for microdeletions with cell-free DNA screening (grade 1B).
authors.affiliation: Society for Maternal-Fetal Medicine, 409 12 St. SW, Washington, DC 20024, USA.
authors.affiliation: Society for Maternal-Fetal Medicine, 409 12 St. SW, Washington, DC 20024, USA.
authors.forename: Mary E
authors.initials: ME
authors.lastname: Norton
authors.affiliation: Society for Maternal-Fetal Medicine, 409 12 St. SW, Washington, DC 20024, USA.
authors.forename: Joseph R
authors.initials: JR
authors.lastname: Biggio
authors.affiliation: Society for Maternal-Fetal Medicine, 409 12 St. SW, Washington, DC 20024, USA.
authors.forename: Jeffrey A
authors.initials: JA
authors.lastname: Kuller
authors.affiliation: Society for Maternal-Fetal Medicine, 409 12 St. SW, Washington, DC 20024, USA.
authors.forename: Sean C
authors.initials: SC
authors.lastname: Blackwell
mesh_terms: D002474:Cell-Free System; D004247:DNA; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017410:Practice Guidelines as Topic; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods; D016216:Ultrasonography, Prenatal
chemical_list: D004247:DNA
keywords: aneuploidy assessment; aneuploidy screening; cell-free DNA screening; nuchal translucency measurement; serum markers; ultrasound