Many major structural fetal anomalies can be diagnosed by first trimester fetal anomaly scan. NIPT can accurately detect aneuploidies and large chromosomal aberrations in cfDNA in maternal blood plasma. This study shows how a patient-friendly first trimester screening for both chromosomal and structural fetal anomalies in only two outpatient visits can be provided. Genotype-first approach assures not only the earliest diagnosis of trisomy 21 (the most prevalent chromosome aberration), but also completion of the screening at 12–14 weeks. To ensure proper management and avoid unnecessary anxiety abnormal NIPT different from trisomy 21, 18 and 13 should be referred for genetic counseling.

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Molecular Cytogenetics
Erasmus MC: University Medical Center Rotterdam

Srebniak, M., Knapen, M., Joosten, M., Diderich, K., Galjaard, S., & Van Opstal, D. (2021). Patient-friendly integrated first trimester screening by NIPT and fetal anomaly scan. Molecular Cytogenetics, 14(1). doi:10.1186/s13039-020-00525-y