Combined first-trimester screening and invasive diagnostics for atypical chromosomal aberrations: Danish nationwide study of prenatal profiles and detection compared with NIPT.
Gadsbøll K, Vogel I, Kristensen SE, Pedersen LH, Hyett J, Petersen OB; Danish Cytogenetic Central Register study group.
Comprehensive chromosomal abnormality detection: integrating CNV-Seq with traditional karyotyping in prenatal diagnostics.
Huang Y, Fu S, Shao D, Yao Y, Wu F, Yao M.
BMC Med Genomics. 2025 Apr 29;18(1):81. doi: 10.1186/s12920-025-02139-y.
PMID:40301840
Recurrent pregnancy loss evaluation combined with 24-chromosome microarray of miscarriage tissue provides a probable or definite cause of pregnancy loss in over 90% of patients.