Prenatal genetic testing 2: diagnostic tests.
Curr Opin Pediatr
; 34(6): 553-558, 2022 12 01.
Article
en En
| MEDLINE
| ID: mdl-36081360
ABSTRACT
PURPOSE OF REVIEW Prenatal genetic testing can be divided into two categories screening and diagnosis. Prenatal genetic screening tests are used to assess carrier status or as a fetal risk assessment for a particular genetic disorder [1]. Prenatal genetic diagnostic testing is used to diagnose particular genetic conditions with as much certainty as possible [1,2]. This review will focus on the diagnostic side of prenatal genetic testing. RECENT FINDINGS:
Next generation sequencing (NGS) has revolutionized prenatal genetic diagnostic testing. NGS methods are becoming more advanced and accurate as more genetic information is being linked to genetic conditions.SUMMARY:
Prenatal genetic diagnostic testing involves clinicians invasively obtaining tissue via amniocentesis or chorionic villus sampling to identify if a fetus has a genetic condition. This testing has traditionally been done through fluorescence in-situ hybridization, karyotype, or chromosomal microarray analysis. However, genetic testing is in a time of rapid technologic expansion and new methods like NGS, which includes targeted gene panels, whole exome sequencing, and whole genome sequencing are being used too. In this time of growth, it is important that providers educate themselves on the research support and indication behind each type of genetic diagnostic test.
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Muestra de la Vellosidad Coriónica
/
Pruebas Diagnósticas de Rutina
Tipo de estudio:
Diagnostic_studies
/
Prognostic_studies
/
Risk_factors_studies
Límite:
Female
/
Humans
/
Pregnancy
Idioma:
En
Revista:
Curr Opin Pediatr
Asunto de la revista:
PEDIATRIA
Año:
2022
Tipo del documento:
Article