What is NIPT Test?
Non-invasive Prenatal Testing (NIPT) is a blood screening procedure performed on pregnant women to detect genetic disorders and abnormalities in the fetus. Although the test can be carried out as early as 10 weeks into pregnancy, it is recommended to be done from 12 weeks onwards.
Why Should You Consider the NIPT Test?
While NIPT is a relatively expensive test, it is an excellent precautionary measure to identify potential health issues in the baby before birth. Genetic abnormalities like chromosomal trisomy, if left undetected, can cause serious physical, mental, and social challenges for the baby. For instance, Down syndrome (Trisomy 21) can lead to reduced mental capacity and visible deformations, while Patau’s syndrome (Trisomy 13) has extremely high death rates, with over 9 out of 10 children dying in their first year of life.
Being aware of potential dangers and consequences through preventive healthcare measures like detailed scans and NIPT gives families the time to prepare for the baby and possible conditions it may have. This preparation can include learning about the condition, developing treatment or therapy plans, and researching assistive technologies that can improve the baby’s day-to-day life.
How Does NIPT Work?
A mother’s blood contains traces of the baby’s DNA, which can be used to sequence and analyze the genetic information of the fetus. The medical professional performing the test will extract blood from the mother’s arm using a needle and syringe and place it in a specific tube (cell-free DNA blood collection tube/BCT) to be sent off for analysis. The extraction process is similar to that of a typical blood withdrawal and is generally not painful.
The mother’s plasma contains the cell-free DNA (cfDNA) of the fetus, which is then sequenced to examine genetic information. The DNA of the baby is screened and analyzed from the mother’s blood sample.
What Can NIPT Test for?
NIPT can be used to test for the following:
- Gender determination
- Chromosomal trisomy (three chromosomes rather than the normal pair of chromosomes)
- Down syndrome (Trisomy 21)
- Edwards syndrome (Trisomy 18)
- Patau’s syndrome (Trisomy 13)
- Sex chromosome trisomies (XXX, XXY, XYY)
- 22 types of fetal chromosomal aneuploidy (abnormal number of chromosomes)
- 20 types of microdeletion/microduplication syndromes (parts of the gene are duplicated or deleted)
Why Choose SONOBEE ULTRASOUND’s NIPT?
At SONOBEE ULTRASOUND, we use a modern and sensitive sequencing technique to screen for fetal aneuploidy that is highly specific and reflects the situation of abnormal chromosomes directly. The sequencing data is analyzed using an established bioinformatic pipeline with comprehensive databases, which ensures the use of reliable and detailed information sources. The results are calculated as a Z-score, which represents the quantitative variations of the chromosome of interest. This score is helpful for accurate judgment of NIPT results as it is significantly associated with true-positive results and has an excellent clinical association.
Our NIPT has been validated with clinical experience from over 140,000 pregnancies, which assures our clients of accurate results.
Sensitivity and Positive Predictive Value:
NIPT has a high sensitivity, which means that it can correctly identify patients with a disease. Additionally, the positive predictive value (PPV) measures the probability that they have the disease given a positive test result.
Get Your NIPT Testing Today!
Frequently Ask Questions about Non-Invasive Prenatal Testing ( NIPT Test )
Non-invasive Prenatal Testing (NIPT) is a blood screening procedure performed on pregnant women to detect genetic disorders and abnormalities in the fetus.
The test is offered starting at RM 1280 with results in only 7-14 working days from receipt of samples. It is available at All SONOBEE ULTRASOUND Centers in Malaysia.
As a general rule, we recommend that a woman have an ultrasound before the blood sample for NIPT is collected. The ultrasound will: confirm the stage and viability of the pregnancy; NIPT has not been validated for use before 10 weeks’ gestation.
NIPT will give results about all 3 conditions. You cannot choose to be screened for Down’s syndrome only, or Edwards’ syndrome and Patau’s syndrome only, like in earlier screening.
It can take up to 2 weeks to get the result of your NIPT. If your NIPT result shows that your baby is likely to have a chromosomal difference, a diagnostic test such as: CVS or amniocentesis can confirm the result.
Is it necessary to get the NIPT test during pregnancy? No, it’s not necessary. It’s a personal choice, and it’s normal to have questions. Your healthcare provider will discuss all your prenatal screening options, including NIPT.
NIPT can be performed anytime from 10 weeks gestation but we recommend waiting to make a decision about NIPT until after your First Trimester Screening results. First Trimester Screening uses ultrasound and a different blood test to screen for Down syndrome and other conditions.
While sensitivity before week 7 is 74.5%, it is 94.8% in the gestational weeks 7-12 and 99.0% after week 20. Diagnostic accuracy using plasma and serum are equally high. The sensitivity of NIPT is 95.6% using plasma and 96.6% using serum, and the specificity 98.8% using plasma and 98.2% using serum.
This is the combined test (ultrasound scan and serum) has a considered predictive value of about 92%. In contrast, the NIPT has >99.9% accuracy in checking for the three commonest chromosome disorders and as well can check for sex chromosome disorders and so the sex of your baby.
For example, if your appointment is at 10:00 am, start drinking at 9:00 am Otherwise, no special preparation is required; you may eat and drink normally prior to the test.
Simple: Requires only mother’s blood for testing
Safe: Non–invasive, and therefore no risk to the baby
Accurate: It detects more than 99% of Down Syndrome, Edward Syndrome, and Patau Syndrome
Ujian NIPT adalah untuk semua wanita hamil, TERUTAMAnya wanita dengan:
- Umur ibu lanjut usia (≥ 35 tahun)
- Sejarah cacat lahir bagi anak sebelum ya
- Individu dengan sejarah kecacatan kelahiran peribadi atau keluarga
- Penemuan ultrasound yang tidak normal
Boleh dilakukan seawal 10 minggu kandungan ke – 24 minggu. Terdapat risiko tertentu pada akhir kehamilan (> 24 minggu) kerana ketidakmampuan menjalani ujian diagnostik klinikal untuk mengesahkan hasilnya kerana masa yang tepat untuk diagnosis pranatal telah berlalu.
Report akan dihantar dalam masa 1 minggu melalui email
Tidak perlu berpuasa sebelum darah diambil untuk ujian NICC test ini.
Ketepatan ujian >99.9% bagi trisomi 21, 18, 13
Harga untuk pakej NIPT test + NT scan during 11-13w6d adalah sebanyak RM1360 (weekday) , dan RM1380 (weekend)
- Down Syndrome (T21)
- Edward Syndrome (T18)
- Patau Syndrome (T13)
- Trisomy 9, 16, 22
- Sex Chromosome
- Gender identification