- Pendahuluan
- Patofisiologi
- Etiologi
- Epidemiologi
- Diagnosis
- Penatalaksanaan
- Prognosis
- Edukasi dan Promosi Kesehatan
Diagnosis Down Syndrome
Diagnosis Down syndrome dapat dilakukan ketika prenatal, saat lahir, atau selama kehidupan. Skrining prenatal Down syndrome melibatkan faktor usia ibu yang sudah lanjut, non invasive prenatal testing (NIPT), dan pemeriksaan chorionic villus sampling (CVS) atau amniosentesis. Pasien Down syndrome dapat menunjukkan bentuk wajah mongoloid, perawakan pendek, hipotonia otot, ketidakstabilan atlantoaksial, gangguan intelektual, dan hampir separuh pasien mengalami penyakit jantung bawaan.[2,5,6]
Anamnesis
Anamnesis yang ditanyakan pada orang tua/keluarga untuk mengetahui faktor risiko meliputi:
Referensi
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35. Shafi BBB. Prenatal Imaging Findings in Down syndrome . Medscape. 2019. https://emedicine.medscape.com/article/402863-overview#a3
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46. and its correlation with prenatal indications. BMC pregnancy and childbirth, 2021. 21(1), 585. https://doi.org/10.1186/s12884-021-04044-5
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