Cell-Free DNA Screening for Single-Gene Disorders.
Obstet Gynecol Surv
; 79(3): 176-181, 2024 Mar.
Article
em En
| MEDLINE
| ID: mdl-38482747
ABSTRACT
Importance In pregnancy, cell-free DNA (cfDNA) represents short fragments of placental DNA released into the maternal blood stream through natural cell death. Noninvasive prenatal screening with cfDNA is commonly used in pregnancy to screen for common aneuploidies. This technology continues to evolve, and laboratories now offer cfDNA screening for single-gene disorders. Objective:
This article aims to review cfDNA screening for single-gene disorders including the technology, current syndromes for which screening may be offered, limitations, and current recommendations. Evidence Acquisition Original research articles, review articles, laboratory white papers, and society guidelines were reviewed.Results:
Cell-free DNA screening for single-gene disorders is not currently recommended by medical societies. There may be a role in specific circumstances and only after comprehensive pretest counseling. It can be considered in the setting of some fetal ultrasound anomalies, and usually only after diagnostic testing is offered and declined.Conclusions:
Given the limitations of using cfDNA screening for single-gene disorders, caution is recommended when considering these tests. It should only be offered with involvement of a reproductive genetic counselor, medical geneticist, or maternal fetal medicine specialist to ensure comprehensive counseling and appropriate utilization.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Diagnóstico Pré-Natal
/
Ácidos Nucleicos Livres
Limite:
Female
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Humans
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Pregnancy
Idioma:
En
Ano de publicação:
2024
Tipo de documento:
Article