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Peer-reviewedCC BY-NC 4.0Molecular Diagnosis & Therapy

Non-Invasive Prenatal Testing in Donor-Oocyte Pregnancies: Biological Determinants, Algorithmic Limitations and Clinical Implications

  • Michele Miscia1
  • Irene Pesaresi1
  • Benedetta Dini1
  • Danila Morano2
  • Paolo Ivo Cavoretto3
  • Antonio Farina4,5
5 affiliations
  1. 1Department of Medical and Surgical Sciences (DIMEC), University of Bologna, 40126 Bologna, Italy
  2. 2Department of Obstetrics and Gynecology, Sant’Anna University Hospital, Ferrara, Italy
  3. 3Obstetrics and Gynaecology Department, IRCCS San Raffaele Scientific Institute, Milan, Italy
  4. 4Unit of Obstetrics and Gynecology, San Salvatore Hospital, L’Aquila, Italy
  5. 5Department of Life, Health and Environmental Sciences, University of L’Aquila, L’Aquila, Italy
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Abstract

Non-invasive prenatal testing (NIPT) based on circulating cell-free DNA (cfDNA) has transformed prenatal screening for common aneuploidies, but its interpretation is less straightforward in pregnancies conceived with donor oocytes. In this setting, fetal chromosomal risk is largely donor-driven, whereas cfDNA interpretability is shaped mainly by the recipient and the placenta. Donor-oocyte pregnancies are enriched for advanced maternal age, obesity, hypertensive and immunologic complications, low-molecular-weight heparin exposure, multiple gestation, vanishing twin, and placental dysfunction – all factors that can destabilize the cfDNA signal. Fetal fraction should therefore be read not only as a technical quality metric but also as a biological marker of placental performance. Analytical platform behavior also matters; counting-based and single-nucleotide polymorphism-based approaches may behave differently in biologically complex samples, particularly for sex chromosome findings and in the setting of maternal confounding. In donor-oocyte pregnancies, a no-call result may be clinically informative rather than neutral. Pre-test counseling, explicit communication with the laboratory, availability of fetal-fraction reporting, and integration with first-trimester ultrasound are essential. Donor-oocyte pregnancy should be regarded as a biologically distinct model for cfDNA screening, one that exposes the limits of generic NIPT algorithms and argues for more tailored interpretation.

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Cite

BibTeXRIS
BibTeX
@article{miscia2026noninvasive,
  title = {{Non-Invasive Prenatal Testing in Donor-Oocyte Pregnancies: Biological Determinants, Algorithmic Limitations and Clinical Implications}},
  author = {Michele Miscia and Irene Pesaresi and Benedetta Dini and Danila Morano and Paolo Ivo Cavoretto and Antonio Farina},
  journal = {Molecular Diagnosis \& Therapy},
  year = {2026},
  month = aug,
  doi = {10.1007/s40291-026-00866-1},
  url = {https://doi.org/10.1007/s40291-026-00866-1},
  note = {CC BY-NC 4.0},
}
RIS
TY  - JOUR
TI  - Non-Invasive Prenatal Testing in Donor-Oocyte Pregnancies: Biological Determinants, Algorithmic Limitations and Clinical Implications
AU  - Michele Miscia
AU  - Irene Pesaresi
AU  - Benedetta Dini
AU  - Danila Morano
AU  - Paolo Ivo Cavoretto
AU  - Antonio Farina
PY  - 2026
DA  - 2026/08/08
JO  - Molecular Diagnosis & Therapy
DO  - 10.1007/s40291-026-00866-1
UR  - https://doi.org/10.1007/s40291-026-00866-1
AB  - Non-invasive prenatal testing (NIPT) based on circulating cell-free DNA (cfDNA) has transformed prenatal screening for common aneuploidies, but its interpretation is less straightforward in pregnancies conceived with donor oocytes. In this setting, fetal chromosomal risk is largely donor-driven, whereas cfDNA interpretability is shaped mainly by the recipient and the placenta. Donor-oocyte pregnancies are enriched for advanced maternal age, obesity, hypertensive and immunologic complications, low-molecular-weight heparin exposure, multiple gestation, vanishing twin, and placental dysfunction – all factors that can destabilize the cfDNA signal. Fetal fraction should therefore be read not only as a technical quality metric but also as a biological marker of placental performance. Analytical platform behavior also matters; counting-based and single-nucleotide polymorphism-based approaches may behave differently in biologically complex samples, particularly for sex chromosome findings and in the setting of maternal confounding. In donor-oocyte pregnancies, a no-call result may be clinically informative rather than neutral. Pre-test counseling, explicit communication with the laboratory, availability of fetal-fraction reporting, and integration with first-trimester ultrasound are essential. Donor-oocyte pregnancy should be regarded as a biologically distinct model for cfDNA screening, one that exposes the limits of generic NIPT algorithms and argues for more tailored interpretation.
SN  - 1177-1062
SN  - 1179-2000
ER  -