Memahami Gene Recessive Disease: Skrining pada Janin dan Bayi – Video Alomedika

Oleh :

dr. ALOMEDIKA

Skrining pada janin dan bayi dengan melakukan non-invasive prenatal testing (NIPT) penting untuk memahami risiko gene recessive disease. Penyakit genetik adalah kondisi abnormal yang terjadi akibat mutasi genom, di mana kondisi ini bersifat keturunan.

Penyakit single gene defect sangat banyak, di mana pola pewarisan dapat dominan atau resesif. Beberapa gene recessive diseases adalah talasemia, defisiensi G6PD, fenilketonuria, penyakit Wilson, defisiensi citrin, defisiensi 5-alpha reduktase, dan penyakit Pompe.

NIPT dapat mengetahui lebih dari satu gen pembawa penyakit resesif, sehingga sangat menguntungkan. Dengan deteksi dini penyakit resesif ini, dokter spesialis anak dapat meningkatkan kesadaran dan persiapan dalam perawatan anak, sehingga, komplikasi berat dapat dicegah, serta pertumbuhan dan perkembangan anak dapat ditingkatkan.

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

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