What is NIPT Test:
Non-invasive Prenatal Testing (NIPT) is a type of blood screening done on expecting mothers to identify and check for genetic disorders and birth defects.
The test can be done as early as 10 weeks of pregnancy. However, to detect microdeletion/ microduplication which spans a smaller fragment of the DNA, it is recommended to test after 13 weeks of pregnancy to achieve the higher fetal fraction (%) required for better accuracy.
NIPT (Non-Invasive Prenatal Testing) and NICC (Non-Invasive Chromosome Check) are both non-invasive prenatal screening tests used to detect chromosomal abnormalities in fetuses.
This is a non-invasive test method where only blood sample is required, unlike the invasive procedures such as amniocentesis or chorionic villus sampling. Blood sample (10mL) is collected into a specially designed cfDNA blood collection tube which contains stabilizing solution to maintain the integrity of cfDNA.
NIPT test is a relatively expensive test but is an extremely great precaution to ensure preparedness for potential issues. Genetic abnormalities like chromosomal trisomy are extremely serious and cause many issues for the baby’s physical, mental and social well-being. For example, Down syndrome (Trisomy 21) causes reduced mental capacity and visible deformations, and Patau’s syndrome (Trisomy 13) has extremely high death rates, with more than 9 out of 10 children with Patau’s syndrome dying during the first year.
For the well-being of the family and the baby, being aware of potential dangers and consequences are necessary. So conducting preventive healthcare like detailed scans and NIPT gives time for families to prepare for the baby and possible conditions it may have, including learning about it, treatment or therapy plans, or researching about assistive technologies available to improve day-to-day life.
A mother’s blood contains traces of their baby’s DNA in it. So, the medical professional will extract blood from your arm with a needle and syringe and put it into a specific tube (cell-free DNA blood collection tube/BCT) to be sent off. The extraction process is just the typical blood withdrawal so you shouldn’t be worried.
The mother’s plasma contains the cell-free DNA (cfDNA) of the fetus, which is then sequenced to examine genetic information. In simpler terms, the DNA of the baby is then screened and analyzed from the mother’s blood sample.
Common diseases | Sensitivity | Specificity | PPV |
Down Syndrome Trisomy 21 | 98.70-99.99% | 99.988% | 96.56% |
T18 | 95.75-99.99% | 99.987% | 88.54% |
T13 | 79.41-99.99% | 99.977% | 50.00% |
47,XXX | 87.66-99.99% | 99.986% | 70.00% |
47,XXY | 94.79-99.99% | 99.981% | 81.18% |
47,XYY | 92.60-99.99% | 99.986% | 80.00% |
45,X | 87.22-99.99% | 99.908% | 25.96% |
Validated with clinical experience from > 140,000 pregnancies
Sensitivity: The ability of a test to correctly identify patients with a disease.
Positive predictive value (PPV): The probability that they have the disease given a positive test result.
Report / Result : 7 days
For singleton pregnancy, we are able to screen for 22 types of fetal chromosomal aneuploidy, sex chromosome aneuploidies and up to 20 microdeletion/microduplication syndromes. For twin pregnancy, only 22 types of fetal chromosomal aneuploidy and sex chromosome aneuploidies are screened.
Babies with trisomy 18 have three copies of chromosome 18 and have severe intellectual disabilities and birth defects typically involving the heart, brain, and kidneys. Babies with trisomy 18 can also have visible birth defects such as an opening in the lip (cleft lip) with or without an opening in the roof of the mouth (cleft palate), a small head, clubbed feet, underdeveloped fingers, and toes, and a small jaw. Unfortunately, most pregnancies with trisomy 18 will miscarry. If born alive, most affected babies with trisomy 18 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 18 occurs in approximately 1 in 3,000 live births.
Babies with Down syndrome have three copies of chromosome 21 and have intellectual disabilities that range from mild to severe. Children with Down syndrome will need extra medical care depending on the child’s specific health problems. Early intervention has allowed many individuals with Down syndrome to lead healthy and productive lives. The presence of medical conditions, like heart defects, can affect the lifespan in these children and adults; however, most individuals with Down syndrome will live into their 60s. Miscarriage occurs in about 30% of pregnancies with Down syndrome while overall about 1 in 700 babies are born with Down syndrome.
Babies with trisomy 13 have three copies of chromosome 13 and have severe intellectual disabilities. They often have birth defects involving the heart, brain, and kidneys. Visible abnormalities include extra fingers and/or toes or an opening in the lip, with or without an opening in the palate. Given the severe disabilities, most pregnancies affected by trisomy 13 will miscarry. If born alive, most affected babies with trisomy 13 will pass away within the first few weeks of life. About 10 percent survive to their first birthday. Trisomy 13 occurs in approximately 1 in 5,000 live births.
Babies with XXY syndrome have two X chromosomes and one Y chromosome (XXY). This condition can be associated with learning difficulties and behavioral problems. People with Klinefelter syndrome might be infertile. About 1 in 500 biological males will be born with Klinefelter syndrome.
Babies with Triple X syndrome have three X chromosomes (XXX). Children with this condition could be taller than average and might experience learning difficulties or behavioral problems. Approximately 1 in 800 biological females will be born with three X chromosomes.
A missing piece of chromosome 5 causes Cri-du-chat syndrome, also called 5p- (5p minus) syndrome. The name “Cri-du-chat” was given to this syndrome due to the high-pitched, cat-like cry that babies with this syndrome often make. Babies with Cri-du-chat syndrome typically have low birth weight, a small head size, and weak muscle tone. Feeding and breathing problems are common in infancy. Children with this disorder have moderate-to-severe intellectual disability, including speech and language delays. They may also have growth delays, behavior problems, and some have curvature of the spine (scoliosis). About one in every 20,000 babies is born with Cri-du-chat syndrome. They may also have heart defects, growth delay, behavior problems and some have curvature of the spine.
22q11.2 deletion syndrome, also called DiGeorge syndrome or Velo-Cardio-Facial syndrome (VCFS), is caused by a missing piece of chromosome number 22. About one in every 2,000 babies is born with 22q11.2 deletion syndrome. The majority of children with this disorder have heart defects, immune system problems, and specific facial features. Most children with 22q.11.2 deletion syndrome have mild-to-moderate intellectual disability and speech delays; some will also have low calcium levels, kidney problems, feeding problems, and/or seizures. About one in five children with 22q11.2 deletion syndrome have autism spectrum disorder; 1 in 4 adults with 22q11.2 deletion syndrome have a psychiatric illness, like schizophrenia.
Prader-Willi syndrome occurs when either a small piece of chromosome 15 is missing or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). Babies with Prader-Willi syndrome have low muscle tone and problems with growth and feeding. Children with Prader-Willi syndrome have delayed milestones, short stature, rapid weight gain leading to obesity, and intellectual disability. About 1 in 10,000 babies are born with Prader-Willi syndrome.
Angelman syndrome happens when either a small piece of chromosome 15 is missing, or when both copies of chromosome 15 come from the same parent (called uniparental disomy, or UPD). About 1 in 12,000 babies are born with Angelman syndrome. Babies and children with Angelman syndrome have severe intellectual disability, delayed milestones, seizures, and problems with balance and walking.
1p36 deletion syndrome, also referred to as Monosomy 1p36 syndrome is caused by a missing piece of chromosome 1. Children with 1p36 deletion syndrome have intellectual disabilities. Most have heart defects and weak muscle tone. About half of affected individuals have seizures (epilepsy), behavioral problems, and hearing loss. Some children with 1p36 deletion syndrome also have vision problems or additional birth defects of other organs. About 1 in 5,000 newborn babies has 1p36 deletion syndrome.
A low-risk test result indicates that the fetus has a low risk of developing the target disease of this screening.
A high-risk test result indicates that the fetus has a high risk of developing the target disease of this screening. However, as a screening test, genetic counselling and invasive prenatal diagnosis are needed after an initial high-risk result.
If a high risk of microdeletion/microduplication syndrome is detected, prenatal diagnosis is recommended to be combined with maternal chromosome analysis to exclude maternal influence.
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