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ACMG Statements and Guidelines
These online statements and guidelines are definitive and may be cited using the digital object identifier (DOI). These recommendations are designed primarily as an educational resource for medical geneticists and other healthcare providers to help them provide quality medical genetics services; they should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. Please refer to the leading disclaimer in each document for more information.
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- ACMG StatementOpen Archive
The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG)
Genetics in MedicineVol. 22Issue 4p675–680Published in issue: April, 2020- Kristin G. Monaghan
- Natalia T. Leach
- Dawn Pekarek
- Priya Prasad
- Nancy C. Rose
Cited in Scopus: 91Approximately 2–4% of pregnancies are complicated by significant fetal structural anomalies. Given respect for reproductive autonomy, all patients diagnosed with a fetal anomaly should be offered genetic counseling, including review of options for genetic testing.1 The prenatal testing strategy and test selection should be individualized and guided by prenatal imaging findings and family history. Current options include chromosomal studies by karyotyping, fluorescence in situ hybridization, and chromosomal microarray analysis (CMA) with consideration of targeted gene-specific molecular testing for suspected disorders.
