Down syndrome prelecture universitas indonesia

Prelecture down syndrome

1. PRELECTURE K9
Tresna Winesa Eriska-2306227766

2. Dr and Mrs Sunarto are from Jakarta. Dr.
Sunarto age 40 is a surgeon and Mrs. Sunarto
age 38 is a corporate lawyer. They just have
their first child and diagnosed as Down
syndrome.
KASUS

3. APA ITU DOWN
SYNDROME?
Down Syndrome merupakan kelainan genetik yang
menyebabkan penderitanya mempunyai kecerdasan
yang rendah serta kelainan fisik yang khas.
Down syndrome,,,apa itu??[Internet]. Bandung: Diskes Kabupaten Bandung. 2023 Mar 14 [cited 2024 Feb 8].
Available from: https://diskes.badungkab.go.id/artikel/48692-down-syndrom-apa-itu-

4. FAKTOR PENYEBAB
Gagal berpisah pada kromosom 21 ketika
gametogenesis
Robertsonian translocation: keseluruhan kromosom
bertempelan ke kromosom lain pada sentromer
Isochromosome: kondisi ketika 2 lengan panjang
kromosom memisah bersama (seharusnya pada kondisi
normal, lengan panjang kromosom berpisah dengan
lengan pendek)
Akhtar F, Bokhari SRA. Down syndrome. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL):
StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK526016/

5. FAKTOR PENYEBAB
Akhtar F, Bokhari SRA. Down syndrome. [Updated 2023 Aug 8]. In: StatPearls [Internet]. Treasure Island (FL):
StatPearls Publishing; 2024 Jan-. Available from: https://www.ncbi.nlm.nih.gov/books/NBK526016/

6. DEFINITIVE DIAGNOSIS
Ada 2 jenis tes yang dapat digunakan untuk mendiagnosis
Down Syndrome, yaitu prenatal screening test dan
prenatal diagnostic test.
Down syndrome tests [Internet]. Bethesda: MedlinePlus; [updated 2021 Jun 24; cited 2024 Feb 8]. Available
from: https://medlineplus.gov/lab-tests/down-syndrome-tests/

7. DEFINITIVE DIAGNOSIS
Prenatal screening test:
First trimester screening 1.
Second trimester screening2.
Combined testing3.
Cell-free fetal DNA4.
Down syndrome tests [Internet]. Bethesda: MedlinePlus; [updated 2021 Jun 24; cited 2024 Feb 8]. Available
from: https://medlineplus.gov/lab-tests/down-syndrome-tests/

8. DEFINITIVE DIAGNOSIS
Prenatal diagnostic test:
Amniocentesis 1.
Chorionic villus sampling2.
Percutaneous umbilical blood sampling3.
Down syndrome tests [Internet]. Bethesda: MedlinePlus; [updated 2021 Jun 24; cited 2024 Feb 8]. Available
from: https://medlineplus.gov/lab-tests/down-syndrome-tests/

9. PENGOBATAN
Down syndrome tidak dapat disembuhkan dan hanya
dapat dilakukan secara simptomatik (terapi yang
meredakan gejala tanpa mengatasi penyebab dasar
penyakit)
Down syndrome tests [Internet]. Bethesda: MedlinePlus; [updated 2021 Jun 24; cited 2024 Feb 8]. Available
from: https://medlineplus.gov/lab-tests/down-syndrome-tests/

10. RISIKO TERJADI DOWN
SYNDROME KEMBALI
Trisomi 21: 1%
Translokasi: 2-3%
15-30% wanita dengan trisomi 21 fertil dan memiliki
kemungkinan hingga 50% dalam memiliki keturunan
dengan trisomi 21
Down syndrome tests [Internet]. Bethesda: MedlinePlus; [updated 2021 Jun 24; cited 2024 Feb 8]. Available
from: https://medlineplus.gov/lab-tests/down-syndrome-tests/

11. PENCEGAHAN TERJADI DOWN
SYNDROME KEMBALI
Konsumsi 400 mcg asam folat tiap hari
Periksakan diri ke dokter secara teratur
Hindari zat yang berbahaya, seperti narkotika, rokok,
alkohol
Pola hidup sehat (menjaga berat badan)
Down syndrome tests [Internet]. Bethesda: MedlinePlus; [updated 2021 Jun 24; cited 2024 Feb 8]. Available
from: https://medlineplus.gov/lab-tests/down-syndrome-tests/

12. Please make your family pedigree at least 3
generation and looking for the possibility of
genetic diseases in the family.
KASUS

13. PEDIGREE CHART

14. THANK YOU