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

Area of Science:

• Reproductive Medicine
• Genetics
• Maternal-Fetal Medicine

Background:

• Non-invasive prenatal testing (NIPT) using cell-free DNA (cfDNA) is a standard screening tool for common aneuploidies.
• Interpretation of NIPT in donor-oocyte pregnancies presents unique challenges due to the interplay between donor genetics, recipient factors, and placental function.

Purpose of the Study:

• To highlight the complexities of cfDNA interpretation in donor-oocyte pregnancies.
• To emphasize the need for tailored NIPT algorithms and enhanced counseling in this specific obstetric population.

Main Methods:

• Review of existing literature and clinical considerations for NIPT in donor-oocyte pregnancies.
• Analysis of factors influencing cfDNA signal stability and interpretability.

Main Results:

• Donor-oocyte pregnancies have a higher incidence of conditions (e.g., advanced maternal age, obesity, placental dysfunction) that can affect cfDNA signal integrity.
• Different NIPT analytical platforms may yield varying results, especially for sex chromosome aneuploidies, in these complex cases.
• A 'no-call' result in donor-oocyte pregnancies can be clinically significant.

Conclusions:

• Donor-oocyte pregnancies represent a distinct biological model for cfDNA screening, challenging generic NIPT algorithms.
• Optimized NIPT interpretation requires considering donor-oocyte specific factors, robust fetal fraction reporting, and integrated clinical data.
• Enhanced pre-test counseling and laboratory communication are crucial for managing expectations and ensuring appropriate care.