15Aug 2023
Prenatal diagnosis of microcephaly with simplified gyral pattern: series of 8 cases

Prenatal diagnosis of microcephaly with simplified gyral pattern: series of 8 cases

The study presents the first prenatal series of Microcephaly with a simplified gyral pattern (MSG), providing insights into its diagnostic criteria and aiding fetal microcephaly counseling. The research involved eight fetuses identified through various scans, genetic analysis, and postnatal data. Key findings include microcephaly with absent gyration and Sylvian fissure operculum, normal cortical thickness, and typical white matter intensity. Genetic analysis revealed gene variants like RTTN and ASPM. Some pregnancies were terminated, but living children showed mild/moderate intellectual issues, delayed speech, and no seizures. Prenatal cerebral MR is crucial for diagnosing MSG, and genetic data significantly influences counseling due to varied prognoses.

  • #gynaecology - ivf

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