rsabhk.co.id, 14 September 2023, 12:05 WIB.
Current developments in genomic technology are providing progress for health services, especially in the field of screening, diagnosis, determining disease risk factors until treatment and therapy monitoring. Technological advances have enabled a more comprehensive integration of genomics into healthcare across all life stages, from pre-implantation, preconception, prenatal, neonatal, pediatric to adult.
RSAB Harapan Kita as the National Maternal and Child Health Center continues to develop services to provide comprehensive health care for the community. In the current Genomic Era, RSAB Harapan Kita also improves genomic-based molecular services, including:
1. NIPT (Non-invasive prenatal testing)
NIPT is a screening test that can provide information on the risk of genetic abnormalities in the fetus. This examination can be performed on pregnant women from 10 weeks of pregnancy.
What can be detected through NIPT?
Trisomy 13 (Patau Syndrome) Trisomy 18 (Edwards Syndrome) Trisomy 21 (Down Syndrome) Sex chromosome aneuploidy, for example 45, X (Turner Syndrome) Gender of the fetus (XX or XY).
Advantages of NIPT
• Safe and non-invasive
Sampling of the mother's blood to screen for fetal chromosomal abnormalities without harming the future baby.
• Early detection
This examination can be performed from 10 weeks of pregnancy.
• The most comprehensive genomic technology
Menggunakan teknologi whole genome sequencing to read the genomic composition of the fetus comprehensively so as to provide accurate and reliable results.
2. PGT (Pre-implantation genetic test)
PGT is a genomic examination used to identify chromosomes in embryos before they are transferred into the mother's womb. This examination is one of the options in the IVF program to select the best embryos so that it is expected to increase the success rate of pregnancy.
Types of PGT examinations
• PGT-Aneuploidi (PGT-A)
Aneuploidy means the addition or loss of chromosomes. Aneuploidy is one of the main reasons for miscarriage, implantation failure or birth defects. Therefore, only embryos with a normal number of chromosomes will be re-implanted into the uterus.
• PGT-Monogenic Disease (PGT-M)
PGT-M is performed to screen embryos for disease. monogenic, for example Thalassemia, Duschenne Muscular Dystrophy dan Cystic Fibrosis. Embryos that do not have this disease will be selected to be implanted into the mother's womb.
Benefits of PGT
• Reduces the risk of miscarriage.
• Increases the chances of successful pregnancy in shorter IVF cycles.
• Helps in cases of advanced maternal age to prevent the birth of children with certain genetic syndromes.
3. DNA Thalassemia
Thalassemia is a blood disorder condition caused by a defect in the globin gene, causing anemia. This condition is a hereditary blood disorder that is most often found in Indonesia. There are two types thalassemia yaitu thalassemia-α dan thalassemia-β.
DNA testing Thalassemia aims to identify mutations and deletions in genes that cause Thalassemia. In addition, this examination can also be carried out as a screening to determine the carrier status of the trait (carrier) Thalassemia.
The Importance of Thalassemia DNA Testing
• Establishing a diagnosis Thalassemia • Establishing a diagnosis
• Identify status carrier thalassemia somebody
• Provide recommendations for appropriate medical treatment based on the mutations and deletions found.
• Supporting management of prenatal diagnosis cases Thalassemia
• Support for advanced therapy management Thalassemia for example if you plan to undergo bone marrow transplantation
Genomic testing may be a necessary service to assist in the process. perencanaan kehamilan to achieve an accurate diagnosis. Genomic services integrated with genetic counseling available at RSAB Harapan Kita can provide comprehensive health services so that it becomes a comfortable and safe experience for patients and families.
Clinical Genetics Doctors Team
Dr. dr. Lydia Pratanu, MS
Dr. dr. Nurin Aisyiyah Listyasari, M.Si.Med
Practice Schedule Klinik Genetika
Senin – Jumat
Pukul 07.00 – 15.30 WIB
Make an appointment in advance before arrival via telephone number 021-5668284, ext.1215 atau Chat Whatsapp 0811-1112-5500 (Laboratorium)
This article is published by Marketing and Business Development Installation – PKRS RSAB Harapan Kita.
For further information, please contact 021-5668284 ext.3206.
