Correction to: Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy number variants

Soster, Erica; Boomer, Theresa; Hicks, Susan C.; Caldwell, Samantha; Dyr, Brittany; Chibuk, Jason; Almasri, Eyad

doi:10.1038/s41436-021-01190-1

Cited by 1 publication

(2 citation statements)

References 0 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…20 As a result, a considerable decrease in the number of diagnostic (invasive) testing has been reported. 31,85,86 In recent years, cell-free DNA technology has improved to include the option of genome-wide analysis of copy number variants larger than 7Mb. 87 Such testing has the capability of detecting rare chromosome aneuploidy and copy number variants with resolution similar to a traditional karyotype, which detects CMV between 5 and 10 Mb.…”

Section: Role Of Cfdna Screening In the Assessment Of First-trimester...mentioning

confidence: 99%

See 1 more Smart Citation

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma

Sherer¹,

Hsieh²,

Hall³

et al. 2022

IJWH

View full text Add to dashboard Cite

First-trimester septated cystic hygroma occurs in approximately 1 in 268 pregnancies and has long been associated with a markedly increased risk of fetal aneuploidy and, among euploid fetuses, an increased risk of structural anomalies primarily affecting the cardiac and skeletal systems. Invasive prenatal diagnosis -chorionic villus sampling and/or amniocentesis -encompasses the timehonored clinical tools for the next step in management following prenatal sonographic diagnosis of first-trimester septated cystic hygroma. Currently, prenatal cell-free DNA (cfDNA) screening for fetal aneuploidy with select microdeletions is gradually replacing the considerably less sensitive, and labor-intensive combined first-trimester screening. These new technologies have opened potential new venues in the clinical management of this ominous late first-trimester sonographic diagnosis. Advances in cfDNA technologies are now permitting detection of chromosomal copy number variants (CNV) larger than 7Mb across genome and select serious single-gene disorders (mainly impacting skeletal and neurological development), affecting quality of life and may benefit from medical and/or surgical management. This commentary will address the available non-invasive prenatal screening technologies, which clearly enhance immediate genetic analysis modalities applicable in the presence of the complex sonographic finding of first-trimester septated cystic hygroma.

show abstract

Section: Role Of Cfdna Screening In the Assessment Of First-trimester...mentioning

confidence: 99%

“… 20 As a result, a considerable decrease in the number of diagnostic (invasive) testing has been reported. 31 , 85 , 86 …”

Section: First-trimester Septated Cystic Hygromamentioning

confidence: 99%

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma

Sherer¹,

Hsieh²,

Hall³

et al. 2022

IJWH

View full text Add to dashboard Cite

show abstract

Correction to: Three years of clinical experience with a genome-wide cfDNA screening test for aneuploidies and copy number variants

Cited by 1 publication

References 0 publications

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma

Current Perspectives of Prenatal Cell-free DNA Screening in Clinical Management of First-Trimester Septated Cystic Hygroma

Contact Info

Product

Resources

About