Persistent Uninterpretable or Failed Prenatal Cell-Free DNA Screening Indicates a High-Risk Pregnancy and is Associated With Biological Factors Interfering With cfDNA-Analysis: A Prospective Cohort Study.
L Lannoo, K Van Den Bogaert, A Belmans, N Brison, L Dehaspe, E De Langhe, L Vancoillie, I Parijs, J R Vermeesch, K Devriendt, K Van Calsteren
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Abstract
Objective: To investigate maternal characteristics, underlying factors and perinatal outcome in pregnancies with persistent uninterpretable prenatal cfDNA screening in a general obstetric population (GOP).
Methods: This study included pregnant individuals with persistent uninterpretable prenatal cfDNA screening results from December 2020 to December 2022. Prenatal cfDNA screening results were classified as uninterpretable due to low quality score (LQS) or low fetal fraction (LFF). Maternal autoimmune screening and a third prenatal cfDNA screening were performed later in pregnancy. Data on maternal characteristics and perinatal outcome were analyzed.
Results: Among 123 pregnant individuals with failed prenatal cfDNA screening, 68% were due to LFF and 32% to LQS. Obesity and autoimmune diseases were significantly overrepresented. A third prenatal cfDNA screening at 24 weeks was informative in 77.1% cases, with a higher success-rate in the LFF group (87.8%). Maternal autoimmune screening revealed unknown triple positivity for antiphospholipid antibodies in 2.4%. Abnormal perinatal outcome was registered in 69.9% of patients, with higher rates of adverse perinatal outcome in the LFF group.
Conclusion: Persistent uninterpretable prenatal cfDNA screening indicates a higher risk for adverse perinatal outcomes, especially in cases with LFF. Maternal autoimmune screening should be considered to identify high-risk pregnancies. A third prenatal cfDNA screening later in pregnancy can help stratify truly high-risk pregnancies and allows patients with initially uninterpretable results to make an informed decision about diagnostic testing.
期刊介绍：
Prenatal Diagnosis welcomes submissions in all aspects of prenatal diagnosis with a particular focus on areas in which molecular biology and genetics interface with prenatal care and therapy, encompassing: all aspects of fetal imaging, including sonography and magnetic resonance imaging; prenatal cytogenetics, including molecular studies and array CGH; prenatal screening studies; fetal cells and cell-free nucleic acids in maternal blood and other fluids; preimplantation genetic diagnosis (PGD); prenatal diagnosis of single gene disorders, including metabolic disorders; fetal therapy; fetal and placental development and pathology; development and evaluation of laboratory services for prenatal diagnosis; psychosocial, legal, ethical and economic aspects of prenatal diagnosis; prenatal genetic counseling
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