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Article

Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience

by
Erica Soster
1,*,
Brittany Dyr
1,
Samantha Caldwell
1,
Amanda Sussman
2 and
Hany Magharyous
1
1
Labcorp, La Jolla, San Diego, 92121 CA, USA
2
Labcorp, Research Triangle Park, Durham, 27709 NC, USA
*
Author to whom correspondence should be addressed.
Genes 2023, 14(10), 1924; https://doi.org/10.3390/genes14101924
Submission received: 31 August 2023 / Revised: 25 September 2023 / Accepted: 9 October 2023 / Published: 10 October 2023
(This article belongs to the Special Issue Advance in Non-invasive Prenatal Testing: Ten Years of cfDNA-Based Screening and Diagnosis)
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Highlights

What are the main findings?
  1. In a cohort of cases (n = 46) sent for cfDNA screening with indications and/or results related to Emanuel syndrome, no discordant results were found (false positives or false negatives).
  2. To our knowledge, this cohort is the largest published group of cases with prenatal screening for carriers of translocation t(11;22).
What is the implication of the main finding?
  1. Given that alternative screening options are limited, this study shows that prenatal cfDNA screening is a reasonable option for families with a history of translocation t(11;22), with preference given to genome-wide cfDNA screening. However, diagnostic testing remains the gold standard.
  2. Families can gain reassurance from screen-negative results, and screen-positive results are likely to be confirmed by diagnostic testing

Abstract

Prenatal cell-free DNA screening (cfDNA) can identify fetal chromosome abnormalities beyond common trisomies. Emanuel syndrome (ES), caused by an unbalanced translocation between chromosomes 11 and 22, has lacked a reliable prenatal screening option for families with a carrier parent. A cohort of cases (n = 46) sent for cfDNA screening with indications and/or results related to ES was queried; diagnostic testing and pregnancy outcomes were requested and analyzed. No discordant results were reported or suspected; there were ten true positives with diagnostic confirmation, six likely concordant positives based on known translocations and consistent cfDNA data, and twenty-six true negatives, by diagnostic testing or birth outcomes. For cases with parental testing, all affected ES cases had maternal translocation carriers. Expanded cfDNA may provide reassurance for t(11;22) carriers with screen negative results, and screen positive results appear to reflect a likely affected fetus, especially with a known maternal translocation. Current society guidelines support the use of expanded cfDNA screening in specific circumstances, such as for translocation carriers, with appropriate counseling. Diagnostic testing is recommended for prenatal diagnosis of ES and other chromosome abnormalities in pregnancy. To our knowledge, this cohort is the largest published group of cases with prenatal screening for carriers of t(11;22).
Keywords: cell-free DNA (cfDNA); noninvasive prenatal testing (NIPT); prenatal screening; prenatal diagnosis; Emanuel syndrome; translocation cell-free DNA (cfDNA); noninvasive prenatal testing (NIPT); prenatal screening; prenatal diagnosis; Emanuel syndrome; translocation

Share and Cite

MDPI and ACS Style

Soster, E.; Dyr, B.; Caldwell, S.; Sussman, A.; Magharyous, H. Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience. Genes 2023, 14, 1924. https://doi.org/10.3390/genes14101924

AMA Style

Soster E, Dyr B, Caldwell S, Sussman A, Magharyous H. Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience. Genes. 2023; 14(10):1924. https://doi.org/10.3390/genes14101924

Chicago/Turabian Style

Soster, Erica, Brittany Dyr, Samantha Caldwell, Amanda Sussman, and Hany Magharyous. 2023. "Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience" Genes 14, no. 10: 1924. https://doi.org/10.3390/genes14101924

APA Style

Soster, E., Dyr, B., Caldwell, S., Sussman, A., & Magharyous, H. (2023). Prenatal cfDNA Screening for Emanuel Syndrome and Other Unbalanced Products of Conception in Carriers of the Recurrent Balanced Translocation t(11;22): One Laboratory’s Retrospective Experience. Genes, 14(10), 1924. https://doi.org/10.3390/genes14101924

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