Prenatal Genetic Testing Options - 26/02/19

Résumé |
All patients should be offered prenatal screening and diagnosis. Testing options depend on many factors, including patient age, family history, and patient preference. Options are rapidly changing with emerging technology. Aneuploidy screening options include ultrasound, maternal analytes, and cell-free DNA. Prenatal chromosomal microarray is the recommended diagnostic test for patients with anomalies visualized on prenatal ultrasound. Prenatal whole exome sequencing is clinically available but is limited by challenges with counseling, interpretation, and turn-around time. Future technologies are emerging and may soon allow for translation of prenatal diagnosis to in utero therapy.
Le texte complet de cet article est disponible en PDF.Keywords : Prenatal genetic testing, Cell-free DNA screening, Noninvasive prenatal testing, Prenatal diagnosis
Plan
| Funding sources: None. |
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| Conflicts of Interest: None declared. |
Vol 66 - N° 2
P. 281-293 - avril 2019 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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