Developing Genomic-based Assays with Genetic Assessment

Genomic-based services provide accurate diagnoses, breakthroughs in the early detection of high-risk pregnancies, reduce the risks and complications of invasive prenatal tests, and offer parents preparation and peace of mind while helping to prepare them for their baby's arrival.

Fetal aneuploidies are among the most common causes of miscarriages, perinatal mortality and birth defects. During the last 70 years, many efforts have been made in order to improve prenatal diagnosis and prenatal screening of these conditions. In recent years, the utilization of cell-free fetal DNA (cff-DNA) testing has increased significantly, representing an opportunity for non-invasive prenatal screening of pregnant women.

Non-Invasive Prenatal Testing (NIPT) is a screening test offered during pregnancy to see if the fetus is at risk for having a fetal aneuploidy. This test utilizes the presence of cff-DNA in the maternal circulation to predict the fetal karyotype using whole-genome next-generation sequencing (NGS) technolog. NIPT provides accurate information about the likelihood for the most common chromosomal conditions, such as Down syndrome (trisomy 21), trisomy 13, trisomy 18, and sex chromosomal aneuploidies as early as 10 weeks.

In addition to providing the breakthrough genomic-based maternal, reproductive and neonatal services, RSAB Harapan Kita also goes into a center for research for maternal and children. Through the biobank facility in our hospital, RSAB Harapan Kita wants to provide and facilitate advanced research in these areas.

Vision

• We aim to lower the number of preventable birth defects through genomic assessment in maternal and fetal health since antenatal, neonatal and childhood
• Provide educational and research sources to develop a comprehensive treatment which is integrated to the promotion, prevention, and management of fetal abnormalities

Disease Target

High Risk Pregnancy and Fetal Abnormalities

Outcome

• Genomic services in maternal, reproductive and neonatal focus on fetal abnormalities can be accessed from pre-conception, and conception to the neonatal and pediatric years.
• NIPT as an alternative modality as the first tier for fetal genomic approach as universal screening for pregnant women.