Pro-NBS

Prodia Newborn Screening

(Newborn Screening)
Deteksi Kelainan Pada Neonatus
Deteksi Kelainan
Pada
Elva Bayi
Aprilia Baru Lahir
Nasution
Malang, 16 Agustus 2020
Bena Zaira
Laboratorium Klinik Prodia

Prodia.co.id
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Tujuan 3:
Menggalakkan hidup sehat dan mendukung kesejahteraan untuk
semua usia

Berusaha untuk memastikan kesehatan dan kesejahteraan untuk semua

orang, di setiap tahap kehidupan. Sasarannya adalah kesehatan utama,
termasuk kesehatan reproduksi, ibu dan anak; penyakit menular, tidak
menular dan lingkungan; cakupan kesehatan universal; dan akses untuk
semua obat dan vaksin yang aman, efektif, berkualitas dan terjangkau. Ini
juga membutuhkan lebih banyak penelitian dan pengembangan,
peningkatan pembiayaan kesehatan, dan memperkuat kapasitas semua
negara dalam pengurangan dan manajemen risiko kesehatan.

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 Newborn Screening - Indonesia
Jumlah kelahiran bayi Asia Pasific ±68,5 juta (dunia ±136,7 juta), 85% lahir di
China, India, Indonesia, Bangladesh, Pakistan, yang tidak melakukan
skrining neonatus nasional

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 Permenkes No.25 Tahun 2014
Pelayanan Kesehatan Bayi Baru Lahir
a. Pelayanan kesehatan neonatal esensial
b. Skrining bayi baru lahir dan
c. Pemberian komunikasi, informasi, edukasi kepada ibu dan keluarganya

Permenkes No.78 Tahun 2014

Skrining Hipotiroid Kongenital
Setiap bayi baru lahir usia 48-72 jam dilakukan skrining neonatus min skrining hipotiroid kongenital

 IKATAN DOKTER ANAK INDONESIA

REKOMENDASI : No.: 09/Rek/PP IDAI/07/2014
 Melakukan skrining hipotiroid kongenital pada semua bayi baru lahir.
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Newborn Screening in Pandemic Era

https://services.aap.org/en/pages/2019-novel-coronavirus-covid-19-infections/clinical-guidance/guidance-on-newborn-screening-during-covid-19/
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 Uji Saring Neonatus
Pemeriksaan yang dilakukan pada bayi baru lahir untuk deteksi awal dalam membedakan bayi
yang mungkin memiliki kelainan dari bayi yang tidak memiliki kelainan, sehingga dapat
dilakukan intervensi terapetik untuk mendapatkan tumbuh kembang anak yang optimal

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 Prodia Newborn Screening
A. Pro NBS
1. TSH Neonatus - Hipotiroid Kongenital
2. G6PD Neonatus - Defisiensi G6PD
3. 17-OH Progesteron Neonatus - Congenital Adrenal Hyperplasia
NBS - Amino Acid & Acylcarnitine (LC-MS/MS)
4. NBS - Amino Acid - Inborn Error of Amino Acid Metabolism
5. NBS - Amino Acid & Acylcarnitine- Inborn Error of Amino Acid
Metabolism & Fatty Acid Oxidation
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üCAH : Sekelompok gangguan yang berasal dari
kerusakan spesifik enzim korteks adrenal yang
dibutuhkan untuk biosintesis kortikosteroid adrenal
yang dapat menyebabkan adrenal crisis dan ambigu
genitalia

üGolden period newborn screening CAH : 7-14 hari

üPengobatan CAH seumur hidup dan kepatuhan

pengobatan dan pemantauan sangat penting untuk Skirining  17-OH
kesehatan, pertumbuhan dan perkembangan anak ->
(Hiperandrogen & TART’s) Progesteron Neonatus
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The reserved.
duplicated or transmitted in any form without the written consent from Prodia. All rights Leo Fung Center for CAH and Disorders of Sex Development
 When
• Saat skrining Neonatus (pada bayi baru lahir) untuk mengetahui resiko CAH

• Individu dengan tanda-tanda insufisiensi adrenal (hipotensi, muntah, demam, hipoglikemia dan
hiperkalemia) atau ambiguous genitalia

• Diagnosis congenital adrenal hyperplasia pada pasien simptomatik dan untuk monitor efektivitas
terapi replacement kortisol pada pasien

• Evaluasi keadaan hirsutism, infertilitas dan/atau hermaproditisme pada pasien wanita dengan
kemungkinan defisiensi 21-hydroxylase

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 2. Hipotiroid Kongenital

ü Definisi : Menurun atau tidak berfungsinya kelenjar tiroid yang

didapat sejak lahir, disebabkan kelainan anatomi atau gangguan
metabolisme pembentukan hormon tiroid atau defisiensi iodium
yang menyebabkan gangguan tumbuh kembang bahkan retardasi
mental

ü Golden period CH : 28 hari

ü Kerusakan otak minimal : gangguan psikomotor ringan

- 82% terdiagnosis secara klinis : IQ ± 77
- 47% terdiagnosis melalui skrining neonatus : IQ ± 110

ü Terdiagnosis secara klinis pada usia 2-60 bulan : gangguan belajar,

perilaku, motorik halus terganggu, retardasi mental
Skirining  TSH Neonatus
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 3. DEFISIENSI G6PD
ü Defisiensi G6PD merupakan kondisi genetik yang
diturunkan X-linked recessive, sehingga pria lebih
cenderung terkena kelainan ini daripada wanita,
menyebabkan hiperbilirubinemia berat, yang dapat
menyebabkan kernikterus

ü Golden period defisiensi G6PD : Sebelum terekspos agen

spesifik

ü Kelainan defisiensi G6PD tidak dapat disembuhkan. Tata

laksana utama kelainan enzim G6PD berupa upaya
pencegahan (Fototerapi bayi, transfusi, suplemen asam
folat)

ü Menghindari obat-obatan dan makanan yang dapat

memicu timbulnya gejala. Skirining  G6PD Neonatus
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 4. Inborn Error Metabolism (IEM)
q Inborn error metabolism adalah kelainan genetik
yang termasuk rare disease disebabkan mutasi
pada gen yang mengkode enzim, sehingga terjadi
perubahan sintesis maupun aktivitas enzim yang
terlibat dalam metabolisme menyebabkan
retardasi mental, gangguan jantung, gangguan
perdarahan, dll

Skirining 
NBS Amino Acid
NBS Amino Acid & Acylcarnitine
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2019 NBS Amino Acid Pemeriksaan NBS - Amino Acid adalah kumpulan pemeriksaan untuk mengukur
konsentrasi dan rasio 10 asam amino untuk deteksi mendeteksi 9 jenis kelainan
metabolisme bawaan pada bayi baru lahir, antara lain Fenilketonuria, Maple Syrup
Urinary Disease, Homocystinuria, Hypermethioninemia, Citrullinemia Type 1,
Argininosuccinic aciduria, Tyrosinemia type 1, Argininemia, Non-ketotic
Hyperglycinemia. menggunakan sampel dried blood spot (DBS) untuk mendeteksi
kemungkinan keadaan IEM pada bayi baru lahir dengan metode Liquid
Chromatography - Mass Spectrometry (LC-MS/MS). Panel NBS - Amino Acid (LC-
MS/MS) sesuai dengan Newborn Screening Quality Assurance Program (NSQAP)
Centers for Disease Control and Prevention (CDC).

2021 NBS Amino Acid Pemeriksaan NBS - Amino Acid & Acylcarnitine (LC-MS/MS) adalah kumpulan
pemeriksaan untuk mengukur konsentrasi dan rasio 10 asam amino dengan tambahan
& Acylcarnitine 8 jenis Acylcarnitine yaitu C0-Carnitine, C2-Acetylcarnitine, C3-Propionylcarnitine, C4-
Butyrylcarnitine, C5-Isovalerycarnitine, C8-Octanoylcarnitine, C14-Myristoylcarnitine,
Jenis Acylcarnitine dan C16-Palmitoylcarnitine untuk deteksi Carnitine Uptake Defect (CUD), CPT1
yang diukur : Deficiency (dengan penurunan C16-Palmitoylcarnitine), Propionic Acidemia,
C0-Carnitine, Methylmalonic Acidemia, SCAD Deficiency, Isovaleric Acidemia, MCAD Deficiency,
C2-Acetylcarnitine, VLCAD Deficiency, dan CPTII Deficiency menggunakan sampel dried blood spot (DBS)
C3-Propionylcarnitine, untuk mendeteksi kemungkinan keadaan IEM pada bayi baru lahir dengan metode
C4-Butyrylcarnitine, Liquid Chromatography - Mass Spectrometry (LC-MS/MS). Panel NBS - Amino Acid (LC-
C5-Isovalerylcarnitine, MS/MS) sesuai dengan Newborn Screening Quality Assurance Program (NSQAP)
C8-Octanoylcarnitine, Centers for Disease Control and Prevention (CDC).
C14-Myristoylcarnitine,
C16-Palmitoylcarnitine
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FAKTOR RISIKO IEM
• Bayi yang lahir dari salah satu atau kedua orangtua membawa sifat, dimana umumnya
mereka tidak mempunyai gejala sehingga orangtua tidak menyadari jika mereka
membawa sifat IEM yang dapat diturunkan kepada anaknya. Oleh sebab itu sebaiknya
dilakukan uji saring IEM pada SEMUA bayi baru lahir.

• Bayi dengan gejala lemah, jaundice, tidak mau menyusu, muntah, berat badan
berkurang, hepatosplenomegali, katarak, dll.

• Riwayat dalam keluarga :

- Kematian bayi baru lahir yang tidak jelas etiologinya
- Riwayat anak dengan masalah neurologik
- Riwayat keguguran berulang
- Riwayat saudara kandung IEM
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 Rule of Newborn Screening - Integrated

• Skrining : Tes skrining untuk membedakan bayi yang

mungkin memiliki gangguan dari bayi yang TIDAK memiliki
kelainan, sehingga tertangani lebih dini dan memiliki
prognosis baik

• Follow Up : Recall jika didapatkan hasil "POSITIF" dan harus

ditindaklanjuti dengan tes diagnostik definitif!

• Evaluasi : Terdapat sistem atau protokol yang jelas

terhadap diagnostik, konseling, terapi dan follow-up pasien
yang berhasil diidentifikasi dalam skrining neonatus

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 1. Pro NBS
Method : Enzymatic (direct fluorescence )
TSH Neonatus, G6PD Neonatus, 17 - OHP Neonatus

Sample :Whole blood (dry blood Daily working

spot) (heel prick) frequency

Advantage for PRO NBS :

ü Multi-teknologi dengan metode DELFIA memberikan sensitivitas dan
spesifisitas tinggi dan pengukuran fluoresensi cepat
ü FDA Approved - Newborns screening
ü Kualitas dan keakuratan sudah sesuai dengan Newborn Screening Quality
Assurance Program CDC
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SERTIFIKASI GSP

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2. NBS - AMINO ACID (LC-MS/MS)

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 Waktu Pengambilan Spesimen

Mengacu PerMenKes No. 78 Tahun 2014 tentang Upaya Kesehatan Anak - Skrining Hipotiroid
Kongenital Darah diambil pada bayi usia 48-72 jam

Normal / Healthy

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 Normal / Healthy ≤ 24 jam
Pemeriksaan Hasil Keterangan
Secara fisiologis,
False kadar TSH setelah
TSH Neonatus
Positive lahir akan
meningkat
Bayi yang sakit
17-OHP False
dan stress setelah
Neonatus positive
dilahirkan
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 TSH Neonatus

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 Waktu Pengambilan Spesimen

Bayi Prematur/ BBLR/ sakit

- 1st specimen : 48-72 jam, sebelum transfusi, pemberian infus nutrisi dan antibiotik
- 2nd specimen : 2 minggu, saat terapi infus nutrisi, antibiotik dan transfusi
- 3rd specimen : 28 hari atau saat keluar dari RS

Kelahiran Bayi di luar RS

Pengambilan sampel harus diatur supaya dilakukan oleh dokter, petugas RS, petugas lab, atau orang
kesehatan lain yang ada

Transfer Inter-hospitals
Pengambilan sampel harus sudah dilakukan sebelum bayi tersebut dipindahkan atau diatur supaya
pengambilan dilakukan oleh RS yang menerima bayi tersebut
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Clinical
duplicated or transmitted in any form without the written consent from Prodia. All rights reserved. and Laboratory Standards Institute. Vol. 29
 Panel
Uji Saring Neonatus
Pengumpulan spesimen
Hal yang penting diperhatikan pada saat pengambilan spesimen :
 Waktu pengambilan (timing)
 Data / Identitas bayi
 Metode pengambilan
 Metode Pemeriksaan
 Perhatikan pengiriman / transportasi (
 Hindari kesalahan pada saat pegambilan sampel

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METODE UMUM PENGAMBILAN DARAH
üTusukan vena (venipuncture)
üTusukan arteri (arterial puncture)
üTusukan kulit (skin puncture)
- Tusukan di jari (fingertips)
* Dewasa (adults), anak kecil (small children)
- Tusukan di daun telinga (earlobes)
* Dewasa (adults), anak-anak (older pediatric)
- Tusukan tumit (heel surface)
* Bayi (infants)

Pagana
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may not used, TJ. Manual of Diagnostic and Laboratory Tests.
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 Lancet untuk Capillary Blood Sampling

Lancet steril dengan ukuran kedalamannya tidak lebih dari 2 mm

Guder WG, Narayanan S, Wisser H, Zawta B. Diagnostic Samples:From

thenotPatient
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Pilih lokasi sampling pada daerah tumit sbb:
Lokasi pengambilan bagian medial atau lateral tumit.
* Pada bagian lain tidak boleh karena
mengakibatkan kerusakan syaraf, tendon
dan tulang rawan
* Tidak boleh mengambil sampel kembali di
lokasi yang sama dengan bekas sebelumnya
* Tidak boleh mengambil spesimen pada area yang
mengalami pembengkakan

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Hasil Positif?  Tes Konfirmasi

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 Hasil Positif?  Tes Konfirmasi
NBS Amino Acid LC/MS-MS ----> Amino Profile
AMINO PROFILE 19
- Phenylalanine - Tyrosine
- Methionine - Leucine
- Isoleucine - Valine
- Lysine - Threonine
- Cysteine - Glutamate
- Aspartate - Glycine
- Alanine - Cytrulline
- Ornithine - Arginine
- Histidine - Serine
- Proline

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Why Newborn Screening ?

üPrevention

üPrevention

üPrevention

Goal : Deteksi awal sebelum munculnya gejala

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 ALUR RUJUKAN
PEMERIKSAAN NEWBORN SCREENING PRODIA

Need
Training??
Call Prodia

RS/Klinik/Lab. Klinik

Prodia
Cabang

PRODIA
PRN

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 Take Home Messages
• Pemeriksaan TSH Neonatus, G6PD Neonatus, 17-OHP Neonatus dan NBS
Amino Acid pada usia bayi 48-72 jam
• Skrining kelainan hipotiroid kongenital, defisiensi G6PD, Congenital
adrenal hyperplasia dan inborn error of metabolism pada bayi baru lahir
• Deteksi dini kelainan pada bayi baru lahir sebelum munculnya gejala
sehingga dapat diberikan terapi dan pengobatan yang tepat dan cepat
sehingga tubuh kembang anak optimal

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Thank You

1500-830 e-prodia @prodia_lab Laboratorium Klinik Prodia

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