Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies

María Gabriela Palacios-Verdú; Alberto Rodríguez-Melcón; Ignacio Rodríguez; Annalisa Racca; Bernat Serra; Gerard Albaiges; Mónica Parriego; Pilar Prats

doi:10.1016/j.rbmo.2023.103761

Prenatal screening after preimplantation genetic testing for aneuploidy: time to evaluate old strategies

Reprod Biomed Online. 2023 Dec 4;48(6):103761. doi: 10.1016/j.rbmo.2023.103761. Online ahead of print.

Authors

María Gabriela Palacios-Verdú¹, Alberto Rodríguez-Melcón², Ignacio Rodríguez³, Annalisa Racca⁴, Bernat Serra², Gerard Albaiges², Mónica Parriego⁴, Pilar Prats²

Affiliations

¹ Unit of Genomic Medicine, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain. Electronic address: gabpal@dexeus.com.
² Obstetrics Service, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain.
³ Epidemiological Unit, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain.
⁴ Reproductive Medicine Service, Department of Obstetrics, Gynaecology and Reproductive Medicine, Institut Universitari Quirón Dexeus, Barcelona, Spain.

PMID: 38603981
DOI: 10.1016/j.rbmo.2023.103761

Abstract

Research question: How does first-trimester aneuploidy screening perform in pregnancies achieved through IVF with preimplantation genetic testing for aneuploidy (PGT-A) in a medical setting?

Design: This retrospective cohort study was undertaken in a single tertiary care centre between January 2013 and June 2022. In total, 20,237 women had prenatal follow-up at the study centre and were included in the study. The women were divided into three groups: singleton pregnancies conceived through the transfer of a PGT-A-screened euploid embryo (n = 510); singleton pregnancies conceived through IVF without PGT-A (n = 3291); and singleton pregnancies conceived naturally (n = 16,436).

Results: The conventional combined screening test for pregnancies conceived through IVF with PGT-A had specificity of 91%; sensitivity could not be calculated as there were no cases of fetal aneuploidy in this group. In 89.1% of pregnancies conceived through IVF with PGT-A with high risk for trisomy 21, 18 or 13, the result was related to advanced maternal age (>35 years at time of screening).

Conclusions: The current screening strategy for trisomies 21, 18 and 13 can generate unnecessary tests in pregnancies achieved through IVF with PGT-A. A new protocol is needed for these patients, with greater weight given to ultrasound markers.

Keywords: Combined prenatal screening; Non-invasive prenatal testing; PGT-A; Prenatal diagnosis; Prenatal screening.