The benefits and limitations of cell‐free DNA screening for 22q11.2 deletion syndrome

Dugoff, Lorraine; Mennuti, Michael T.; McDonald‐McGinn, Donna M.

doi:10.1002/pd.4864

Cited by 30 publications

(53 citation statements)

References 80 publications

(172 reference statements)

Supporting

Mentioning

Contrasting

Order By: Relevance

“…The limitations of this study are the inability to fully assess either the mother or neonate for possible 22DS mosaicism. While 22DS was not detected by routine clinical assessment by FISH analysis in the maternal or neonatal peripheral blood, the presence of low level mosaicism or an aberrant cell line confined to another maternal or fetal tissue cannot be excluded …”

Section: Discussionmentioning

confidence: 99%

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

et al. 2017

View full text Add to dashboard Cite

22q11.2 deletion, the most common microdeletion syndrome within the general population, is estimated to have a prevalence of 1 in 3000 to 6000. Non-invasive prenatal testing has recently expanded to include screening for several microdeletions including 22q11.2. Given the expansion of prenatal screening options to include microdeletions, it is important to understand the limits of this technology and the variety of reasons that a discordant positive result can occur. Here, we describe a case of a pregnant woman who received a positive non-invasive prenatal maternal plasma screen for 22q11.2 deletion. Maternal and postnatal neonatal peripheral blood cytogenetic, PCR, and fluorescence in situ hybridization studies were normal, but the placenta was mosaic for 22q11.2 deletion in two of three biopsy sites. This case illustrates both the complexities of pre- and post-test counseling for microdeletion screening and the potential for a discordant positive microdeletion result because of confined placental mosaicism. © 2017 John Wiley & Sons, Ltd.

show abstract

Section: Discussionmentioning

confidence: 99%

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

et al. 2017

View full text Add to dashboard Cite

show abstract

“…However, only 11% have overt cleft palate, and 1% to 2% had cleft lip, meaning prenatal ultrasound scan findings can be subtle and missed. Other less common possible structural anomalies noted prenatally in 22q11.2DS were renal anomalies, congenital diaphragmatic hernia, hemivertebra, polydactyly, and neural tube defect . Bilateral talipes in our case was the sole feature indicating further genetic workup.…”

Section: Introductionmentioning

confidence: 54%

“…The sensitivity of NIPS to detect trisomy 13, 18, and 21 is >90% . Controversy remains as to whether its use could be extended to screen for 22q11.2 deletion syndrome (DS) and other microdeletion syndromes . We report a case of 22q11.2 DS missed by NIPS in a fetus with bilateral talipes as the only anomaly identified on prenatal scan.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

A case of prenatal isolated talipes and 22q11.2 deletion syndrome—an important chromosomal disorder missed by noninvasive prenatal screening

et al. 2018

View full text Add to dashboard Cite

What's already known about this topic? NIPS is commonly used to screen for chromosomal abnormality. The test can be extended to screen for microdeletions such as 22q11.2 deletion syndrome. What does this study add? We present a case of 22q11.2 deletion syndrome missed by NIPS in a fetus with isolated bilateral talipes. Clinicians should be aware of the controversy surrounding the use of NIPS for 22q11.2 deletion syndrome and that a negative test does not exclude the diagnosis.

show abstract

“…Furthermore, there may be far more clinical utility in detecting CNVs than Down syndrome. For example, 22q11.2 is typically not diagnosed at birth unless a characteristic cardiac defect raises suspicion, yet these children have a variety of metabolic and immune derangements that benefit from early detection and treatment . For more severe CNVs, identification before birth may allow more appropriate therapy including, in the most severe circumstances, redirection of care or referral to perinatal hospice.…”

Section: For (Mary Norton)mentioning

confidence: 99%

Current controversies in prenatal diagnosis 2: Cell‐free DNA prenatal screening should be used to identify all chromosome abnormalities

2018

View full text Add to dashboard Cite

Noninvasive prenatal testing (NIPT) using cell-free DNA (cfDNA) from maternal serum has been clinically available since 2011. This technology has revolutionized our ability to screen for the common aneuploidies trisomy 21 (Down syndrome), trisomy 18, and trisomy 13. More recently, clinical laboratories have offered screening for other chromosome abnormalities including sex chromosome abnormalities and copy number variants (CNV) without little published data on the sensitivity, specificity, and positive predictive value. In this debate, the pros and cons of performing prenatal screening via cfDNA for all chromosome abnormalities is discussed. At the time of the debate in 2017, the general consensus was that the literature does not yet support using this technology to screen for all chromosome abnormalities and that education is key for both providers and the patients so that the decision-making process is as informed as possible.

show abstract

The benefits and limitations of cell‐free DNA screening for 22q11.2 deletion syndrome

Cited by 30 publications

References 80 publications

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

Confined placental mosaicism for 22q11.2 deletion as the etiology for discordant positive NIPT results

A case of prenatal isolated talipes and 22q11.2 deletion syndrome—an important chromosomal disorder missed by noninvasive prenatal screening

Current controversies in prenatal diagnosis 2: Cell‐free DNA prenatal screening should be used to identify all chromosome abnormalities

Contact Info

Product

Resources

About