How to Integrate Cell-Free DNA Screening With Sonographic Markers for Aneuploidy: An Update.
AJR Am J Roentgenol
; 210(4): 906-912, 2018 Apr.
Article
en En
| MEDLINE
| ID: mdl-29446677
OBJECTIVE: The sonologist detects a so-called "soft marker" during approximately 10% of routine second-trimester anatomy examinations and is often uncertain about what further management is appropriate. This article will specifically address the management of patients with sonographic markers for six common entities: choroid plexus cysts (CPCs), ventriculomegaly (VM), echogenic intracardiac focus (EIF), urinary tract dilation (UTD), fetal echogenic bowel (FEB), and femoral and humeral shortening. The use of cell-free DNA screening and its relationship to these sonographic findings will be reviewed. CONCLUSION: The era of ultrasound markers as a screen for fetal aneuploidy is coming to a close. The detection of these markers on an ultrasound examination should simply serve as a reminder to ensure that the patient was offered cell-free DNA screening or conventional analyte screening. Cell-free DNA testing is revolutionizing screening. With normal results on a cell-free DNA test, many isolated soft markers-including CPCs, EIF, mild rhizomelic limb shortening, and mild pyelectasis-are irrelevant from a genetic standpoint. However, further counseling and workup are indicated for VM, true FEB, femur or humerus length measurement that is less than 2.5-percentile value, and pyelectasis to evaluate for the nongenetic associations with these findings. Finally, cell-free DNA testing is currently a screening test; positive results require definitive diagnostic testing with amniocentesis or chorionic villus sampling.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Ultrasonografía Prenatal
/
Ácidos Nucleicos Libres de Células
/
Aneuploidia
Tipo de estudio:
Diagnostic_studies
/
Screening_studies
Límite:
Adult
/
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
AJR Am J Roentgenol
Año:
2018
Tipo del documento:
Article
Pais de publicación:
Estados Unidos