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Peer-reviewedCC BYF&S reports

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

  • Jennifer Law1
  • Kyra Ramsey1
  • Nicole Sprawka1
  • Joana Perdigao1
  1. 1Department of Obstetrics and Gynecology, Loyola University Medical Center, Maywood, IL.
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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.

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Cite

BibTeXRIS
BibTeX
@article{law2026limits,
  title = {{The limits of genetic screening: trisomy 21 after euploid preimplantation genetic testing for aneuploidy and negative noninvasive prenatal testing.}},
  author = {Jennifer Law and Kyra Ramsey and Nicole Sprawka and Joana Perdigao},
  journal = {F\&S reports},
  year = {2026},
  month = jul,
  doi = {10.1016/j.xfre.2026.06.010},
  url = {https://europepmc.org/article/MED/42903648},
  note = {CC BY},
}
RIS
TY  - JOUR
TI  - The limits of genetic screening: trisomy 21 after euploid preimplantation genetic testing for aneuploidy and negative noninvasive prenatal testing.
AU  - Jennifer Law
AU  - Kyra Ramsey
AU  - Nicole Sprawka
AU  - Joana Perdigao
PY  - 2026
DA  - 2026/07/06
JO  - F&S reports
DO  - 10.1016/j.xfre.2026.06.010
UR  - https://europepmc.org/article/MED/42903648
AB  - 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.
SN  - 2666-3341
ER  -