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Non-invasive prenatal testing

What is NIPT?

Non-invasive prenatal testing Non-invasive prenatal testing (“NIPT”) is a relatively new type of screening test that analyses fetal DNA in mother’s blood to screen for fetal chromosomal abnormalities.

In 1997, scientists first reported the presence of small amounts of cell-free fetal DNA among the circulating cell-free DNA in the mother’s blood as early as four gestational weeks1. The rapid development of next generation sequencing technology makes it possible to detect fetal aneuploidies non-invasively and with high accuracy by analysing the cell-free DNA in the mother’s blood.

About iGene

Cordlife has partnered with iGene Diagnostics, a Singapore-based molecular diagnostics company, to offer iGene™ in Philippines. Compared with other NIPTs, iGene™ has superior clinical performance and is able to screen with very high accuracy for the presence of common chromosomal abnormalities, including Down Syndrome, Edwards Syndrome and Patau Syndrome.

Why get tested?

Although the chance of having a baby with Down syndrome (or any chromosomal abnormality) increases with age, having a fetus affected by a chromosomal abnormality may also happen to mothers of any age. The incidence of chromosomal abnormalities, excluding sex chromosomal aneuploidies, can be as high as one in 160 live births1.

This simple blood test means less anxiety for an expectant mother, father and the whole family. To date, the availability of the test has significantly reduced the number of invasive diagnostic tests, such as Amniocentesis and Chorionic Villus Sampling, which carry a risk of miscarriage of about 1 in 100.

Before you go through with a NIPT such as iGene, check with your obstetrician on your eligibility for the test. Early screening and detection of potential conditions enables you to make an informed choice and address your baby’s health needs upon birth.

What does iGene screen for?

Trisomy Aneuploidies
T21
(Down Syndrome)
Affects one in 800 newborns

Individuals with Down Syndrome (Trisomy 21) are characterised by typical facial features such as an oval-shaped face and eyes that slant upwards. Most individual diagnose with Down syndrome will have some degree of learning difficulty, delayed speech development and a delay in motor development.

Approximately 50% of babies with Down syndrome are born with a heart defect and are also at risk of developing other medical conditions.

Although women of any age can have a child with Down syndrome, the chance of having a child with this condition increases with maternal age.

T18
(Edwards Syndrome)
Affects one in 5,000 newborns

Edwards Syndrome (Trisomy 18) is due to an extra copy of chromosome 18, which is associated with a high rate of miscarriages. Many individuals with trisomy 18 die before birth or within their first month. Only 5-10% of affected children live past their first year, and often have severe intellectual disability or congenital heart defects.

T13
(Patau Syndrome)
Affects one in 16,000 newborns

Patau Syndrome (Trisomy 13) is due to an extra copy of chromosome 13, which is associated with a high rate of miscarriages. Many foetuses don’t survive until full-term and are stillborn or spontaneously abort. Infants born with Trisomy 13 usually have severe congenital heart defects and other medical conditions, and survival beyond the first year is rare. Features include slow growth before birth, low birth weight, heart defects, organ malformation, brain and central nervous system abnormalities and craniofacial abnormalities.

 
 
Sex Chromosome Aneuploidies
Trisomy X
(Triple X Syndrome)
Affects one in 1,000 females

Triple X syndrome results from an extra copy of the X chromosome in each of a female's cells.

Females with this condition may be taller than average, but it typically causes no unusual physical features. Most females have normal sexual development and are able to conceive children. There is an associated risk of learning disabilities and delayed development of speech, language and motor skills. Seizures or kidney abnormalities occur in about 10% of affected females.

Monosomy X
(Turner Syndrome)
Affects one in 2,500 females

Most often, Turner syndrome results when one X chromosome is normal and the other X chromosome is missing or altered.

The most common feature of Turner syndrome is short stature, which becomes evident by about age 5. An early loss of ovarian function is also very common. Up to half of affected females are born with a heart defect, complications of which can be life threatening. However, most girls and women with the condition have normal intelligence.

XXY
(Klinefelter Syndrome)
Affects one in 500 to 1,000 males

Most often, Klinefelter syndrome is the result of at least one extra copy of the X chromosome in each cell. The condition interferes with sexual development, such as reduced levels of testosterone, which can lead to delayed, or incomplete puberty, breast enlargement, reduced facial and body hair, and infertility. It also causes abnormal functioning of the testes.

XYY
(Jacobs Syndrome)
Affects one in 1,000 males

Jacob’s syndrome is the result of one extra copy of the Y chromosome in each cell. Although males with this condition may be taller than average, this chromosomal change typically causes no unusual physical features. Most have normal sexual development and are able to father children.

There is an increased risk of learning disabilities and delayed development of speech, language and motor skills. A small percentage of males are diagnosed with autistic spectrum disorders, which are developmental conditions that affect communication and social interaction.

 
Deletion Syndromes
5p deletion syndrome
(Cri du Chat Syndrome)
Affects one in 20,000 to 50,000 newborns

This condition results when a piece of chromosome 5 is missing. Affected infants have a high-pitched cry that sounds like a cat, hence the name Cri-du-chat (cat's cry).

It causes intellectual disability and delayed development, small head size, low birth weight, and weak muscle tone in infancy. Affected individuals also have distinctive facial features, including widely set eyes, low-set ears, a small jaw and a rounded face. Some infants with Cri-du-chat syndrome are born with a heart defect. As they grow, people with cri-du-chat usually have difficulty walking and talking. They may have behavioural problems and severe intellectual disability.

1p36 deletion syndrome
Affects one in 5,000 to 10,000 newborns

This condition results when a piece of chromosome 1 is missing, and typically causes severe intellectual disability. Most affected individuals have limited or no speech, as well as behaviour problems. Most have structural abnormalities of the brain resulting in seizures. There may also be weak muscle tone and swallowing difficulties.

Physical characteristics include a small head that is also unusually short and wide in proportion to its size. There might also be vision or hearing problems, and abnormalities of the skeleton, heart, gastrointestinal system and other organs.

22q11.2 deletion syndrome
(DiGeorge Syndrome)
Affects estimated one in 1,000 newborns

22q11.2 deletion syndrome (DiGeorge Syndrome) is caused by a missing section of chromosome 22. This deletion has the potential to affect most of the system in the body and may cause a wide range of health problems like heart defects, palate differences, immune system problems, growth delay, kidney problems, hearing loss or others health problems.

 
7q11.23 Williams Syndrome
Affects estimated one in 7,500 – 10,000 newborns

7q Williams syndrome is caused by a deleted region from chromosome 7q Williams syndrome is a developmental disorders that affects many parts of the body. The syndrome is characterized by mild to moderate intellectual disability or learning problems and heart and blood vessel (cardiovascular) problems.
The affected individuals are most likely to have distinctive features including a broad forehead, a short nose with a broad tip, full cheeks and a wide mouth with full lips. This disorder also tends to affect their dental health such as smaller teeth, widely spaced, crooked or missing.

17q21.31 microdeletion syndrome
(Koolen De Vries Syndrome)
Affects estimated one in 16,000 newborns

17q microdeletion syndrome (Koolen De Vries Syndrome) is a disorder that is caused by a small missing genetic material from chromosome 17. The affected individuals are usually characterized by high and broad forehead, droopy eyelids, round nose and prominent ears. This disorder may causes hearing or other cardiac abnormalities, kidney problems and skeletal anomalies such as foot deformities.

17p11.2 deletion syndrome
(Smith-Magenis syndrome)
Affects estimated one in 25,000 newborns

17p- Smith-Magenis syndrome is a disorder that caused by a deletion from a region of chromosome 17. This disorder usually affects many parts of the body including mild to moderate intellectual disability, delayed speech and language skills, sleep disturbances and behavioral problems. Most of the affected individuals have a broad, square-shaped face with deep-set eyes, full cheeks and a prominent lower jaw.

 
15q11.2 microdeletion syndrome
(Prader Willi / Angelman Syndrome)
Angelman syndrome affects one in 12,000 newborns whereas Prader Willi syndrome affects one in 20,000 to 50,000 newborns
Most mothers carrying babies with a 15q11.2 microdeletion experienced no pregnancy problems, had a normal delivery and only discovered their baby was affected after the birth. There are two main types of syndrome associated with this microdeletion.
  • Angelman syndrome results from a loss of gene activity (expression). Main characteristics of Angelman syndrome includes severe mental retardation, lack of speech, excessive happy demeanour.
  • Prader Willi syndrome is caused by a loss of active genes in a region of chromosome 15. People can have either Prader-Willi syndrome or Angelman syndrome. Characteristics of Prader-Willi syndrome includes mild to moderate development delay, delayed to no puberty.
18q deletion syndrome
Affects estimated one in 40,000 newborns

18 Deletion syndrome is chromosomal disorder that caused by a missing piece of chromosome 18.

The affected individuals with 18q Deletion syndrome usually have intellectual disability and delayed development, however some affected individuals have normal intelligence and development.

4p- syndrome
(Wolf-Hirschhorn Syndrome)
Affects estimated one in 50,000 newborns

4p-Wolf-Hirschhorn syndrome is a chromosomal condition that caused by a missing section of chromosome 4. This chromosomal disorder causes delayed growth and development, intellectual disability and seizures. The affected individuals have distinctive facial features, including a broad, flat nasal bridge and a high forehead.

 
Fetal Sex

The above conditions indicated are found in the full panel of iGene test (iGene Plus) only.For more information or advice, please speak with your obstetrician or click here to enquire.

Legend:
Aneuploidy: a condition in which a person has one or a few chromosomes above or below the normal chromosome number (46). It originates during meiosis (a cell division process that gives rise to the sperm and egg) when the chromosomes do not separate properly between the two cells. For example, a common form of aneuploidy is when an individual have 3 copies of chromosome 21, which is more commonly known as Down syndrome.


Comparison of iGene with other prenatal screening tests

 
iGene™
1st Trimester Screening
Nuchal Translucency Screening
Triple Test
Detection Rate
>99%1
80-90%4
75-80%5
65-70%5
Testing Period
(Week of pregnancy)
As early as 10th week
11th- 14th weeks
11th- 14th weeks
15th- 20th weeks
 
iGene™
1st Trimester Screening
Nuchal Translucency Screening
Triple Test
How is it performed?
10ml of Maternal Blood
Maternal Blood & Ultrasound Test
Ultrasound Test
Maternal Blood
False Positive Rate for T21
0.03%1
Up to 5%4
Up to 5%5
Up to 5%5
 
iGene™
1st Trimester Screening
Nuchal Translucency Screening
Triple Test
Positive Predictive Value (PPV)
95.1%1 for T21
4.2% for T212
Not applicable
Not applicable
Find out if iGene is right for me
Legend:
  • OSCAR: One Stop Clinic for Assessment of Risk for Fetal Anomalies that includes ultrasound measurements of Nuchal Translucency (NT) and biochemical testing,
  • Nuchal Translucency Screening: An ultrasound scan that measures the thickness of the fetal nape (neck) to identify the risk of chromosomal abnormalities.
  • Triple Test: Measures the levels of a protein produced by the fetus as well as two pregnancy-produced hormones in the maternal blood.
  • False Positive Rate: The rate at which a positive result is incorrectly identified, when there is no chromosomal abnormality is present.
  • PPV: Positive predictive value is one of the most important measures of a screening test. It measures the probability that a positive result is truly positive, or the proportion of patients with positive test results who are correctly identified.



How do I enrol for iGene?

Enquire with your obstetrician about iGene™Enquire with your obstetrician about iGene™. You can take the test after your doctor assesses your suitability.
Upon or after enrolment, blood is drawn from mother’s arm.Upon or after enrolment, blood is drawn from mother’s arm. Cell-free DNA is found in the circulating in the mother’s bloodstream.
Blood sample is analysed by a Whole Genome Sequencing approach using Next Generation Sequencing Technology. Between 5 -10 million DNA fragments from the whole genome are read and sequenced to achieve the highest accuracy. Blood sample is analysed by a Whole Genome Sequencing approach using Next Generation Sequencing Technology.
Your doctor will receive your detailed report with a definitive result of “screen positive” or “screen negative” within 12 to 14 working days and advise you the next step. Your doctor will receive your detailed report with a definitive result of “screen positive” or “screen negative” within 12 to 14 working days and advise you the next step.

If the screening results come back negative, it suggests a low risk for the tested trisomies. Otherwise, women who screen positive for a particular chromosomal abnormality are advised to consult their obstetrician / doctor for further action, which may include a diagnostic confirmatory test, such as Amniocentesis or Chorionic Villus Sampling (CVS).

Does my doctor offer iGene?

Discount worth


Php 1,500.00

Frequently Asked Questions

Once pregnant, can I sign up for iGene?
You can only sign up for iGene™ as early as 10 weeks into your pregnancy. This test analyses the genetic material (DNA), which includes the DNA of your fetus, naturally circulating in your bloodstream. The amount of fetal DNA gradually peaks from 10th week onwards and clears off from your bloodstream within hours of giving birth.
Am I eligible for iGene?
iGene™ test can be done from the 10th week of pregnancy and onwards. It can also be ordered for IVF pregnancies, donor egg pregnancies and twin pregnancies. Talk to your obstetrician / doctor to find out if you are a suitable candidate for iGene™ test.
Besides iGene, what other screening tests are available to detect chromosomal abnormalities?
Before iGene™ (or NIPT) was available, first trimester screening (FTS), which is a combination of nuchal translucency (NT) and maternal serum screening via biochemical markers, was commonly used to provide a risk estimate of common fetal trisomies, such as Down Syndrome, Edwards Syndrome, and Patau Syndrome . Compared to iGene™, which has an accuracy of 99.96%, FTS is only 80-90% accurate.
How do I sign up for iGene?
Simply head to your doctor’s /obstetric clinic as all is required is a 10ml blood sample from you. Alternatively, you can contact our customer service at (63) 988486063 or 09988486064 or click here for more information.
Are iGene results conclusive for a chromosomal disorder?
Although iGene™ is a highly accurate screening test, if your screening result comes back positive, your doctor may still advise you to proceed with an invasive diagnostic test, such as Amniocentesis or CVS, to confirm the particular chromosomal abnormality by karyotyping.
References:
  1. Jiang F, et al. BMC Medical Genomics, 2012 Dec;5:57. doi:10.1186/1755-8794-5-57
  2. Bianchi et al. 2014. The New England Journal of Medicine, 2014 Feb, 370:799-808.
  3. Nicolaides, K. 2011. Prenatal Diagnosis, (31), 7-15.
  4. Dan et al., Prenatal Diagnosis 2012; 32; 1-8.
  5. Zhang H, et al. 2015. Ultrasound Obstet. & Gynecol. 10.1002/uog.14792.
iGene is a screening, not a diagnostic test. Patients should opt for it only as an informed choice after appropriate pre-test counselling. iGene is a trademark of iGene Diagnostics Pte Ltd, a leading women’s healthcare company based in Singapore.
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