Work

The limits of genetic screening: trisomy 21 after euploid preimplantation genetic testing for aneuploidy and negative noninvasive prenatal testing

Year: 2026

Type: article

Abstract: Objective: To describe a case of false-negative preimplantation genetic testing for aneuploidy (PGT-A) and noninvasive prenatal test (NIPT) resulting in a neonate born with Down Syndrome. Design: Case report. Subjects: A 40-year-old multiparous woman with in vitro fertilization pregnancy due to a history of tubal ligation presenting to an academic medical center. Exposure: Prenatal aneuploidy screening with PGT-A and cell-free DNA. Main Outcome Measures: PGT-A test was conducted on a day 5 blastocyst which resulted as euploid. Subsequent NIPT test was obtained at 10 weeks and reported low-risk results. Results: The patient underwent vacuum-assisted vaginal delivery of a liveborn male infant with features of Down Syndrome. Postnatal karyotype confirmed nonmosaic trisomy 21. Conclusion: PGT-A and NIPT are powerful tools used for risk reduction, but they do not eliminate risk.

Source: F&S Reports

DOI: 10.1016/j.xfre.2026.06.010

Authors: Jennifer Law, Kyra Ramsey, Nicole Sprawka, Joana Perdigao

Institutions: Loyola University Medical Center, Loyola Medicine

Language: English

Topic: Prenatal Screening and Diagnostics

Subfield: Pediatrics, Perinatology and Child Health

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $2,000