Prenatal Diagnosis of Neurofibromatosis Type 1: No Specific Prenatal Features Observed in Sporadic Fetal Presentations
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The authors aimed to evaluate the indications for prenatal diagnosis (PND) of neurofibromatosis type 1 (NF1) in a Chinese referral medical center over a seven-year period. They found that NF1 does not present specific prenatal features, as most sporadic cases were diagnosed incidentally through advanced genetic testing rather than through parental carrier status. The study identified a variety of NF1 variants, highlighting the complexity of prenatal diagnosis in these cases.
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