Transformasi Diagnosis Prenatal: Karyotype, Microarray, dan Next Generation Sequencing (NGS) – Video Alomedika

Oleh :

dr.DR. Wiku Andonotopo, Sp.OG, Subsps K-Fetomaternal

Diagnosis prenatal terus berkembang dengan semakin banyaknya tes spesifik yang tersedia. Tes ini bukan revolusi, melainkan suatu evolusi hingga hadir pemeriksaan karyotype, microarray, next generation sequencing (NGS), dan non-invasive prenatal testing (NIPT).

Skrining dan pemeriksaan diagnostik genetik prenatal memiliki peran penting dalam deteksi dini kelainan kromosom, genetik, dan struktural janin, sehingga memungkinkan perencanaan kehamilan dan pengambilan keputusan klinis yang lebih tepat. Dengan informasi genetik yang akurat, dokter dan orang tua dapat mempersiapkan intervensi medis, strategi persalinan, serta konseling yang sesuai dengan kondisi janin, misalnya kasus talasemia, sindrom Down,dan defisiensi G6PD.

Seiring perkembangan teknologi, pemeriksaan genetik prenatal dengan next generation sequencing (NGS) telah mampu mendeteksi kelainan submikroskopik. NGS sebagai pendekatan diagnostik paling komprehensif untuk mendeteksi penyakit monogenik melalui analisis panel gen, baik exome sequencing maupun whole-genome sequencing.

(Konten ini khusus untuk dokter. Registrasi untuk baca selengkapnya)

Referensi

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