Advanced Course in Genetic Prenatal Diagnosis 2025 [ENG]

Presentación

Course composed of 5 weekly streaming sessions, each consisting of 3 topics developed over 20 minutes of theory, followed by 20 minutes of clinical cases, and ending with 20 minutes of open discussion between the day’s instructors and participants. To conclude, there will be a 20-minute practical application workshop.

Prenatal screening for aneuploidy using cell-free fetal DNA in maternal circulation.
Chromosomal anomalies: clinical implications and diagnosis through cytogenetics or QF-PCR.
Microdeletion/microduplication syndromes and chromosomal microarray.
Exome sequencing in the prenatal diagnosis of monogenic diseases. Gene panels and clinical exome.
Carrier screening for recessive diseases and preimplantation testing.

Genetics in pregnancy loss.

Más información

In the past decade, there has been a true “revolution” in the field of prenatal genetic analysis techniques. For prenatal aneuploidy screening, cell-free fetal DNA in maternal circulation is emerging as the most effective screening method. As diagnostic techniques, chromosomal microarray has replaced conventional karyotyping, and gene panels along with clinical exome sequencing are becoming the preferred methods for diagnosing monogenic diseases in selected fetal anomalies. It is essential to understand their indications and how to interpret their results.

€285,00