F&S reports · 2026
The limits of genetic screening: trisomy 21 after euploid preimplantation genetic testing for aneuploidy and negative noninvasive prenatal testing.
Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Law Jennifer, Ramsey Kyra, Sprawka Nicole, Perdigao Joana
Аннотация
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.
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.