iGene® at a Glance

Safe and non-invasive - Requires only 10ml of mother's blood to screen for chromosomal abnormalities without harming the baby
Aman dan non-invasif - Hanya membutuhkan 10 ml darah ibu untuk mendeteksi kelainan kromosom tanpa memberikan efek samping bagi janin.
Early screening - Can be performed as early as 10 weeks of pregnancy.
Deteksi Dini - Dapat dilakukan pada awal 10 minggu kehamilan.
Highly accurate - With a positive predictive value of 95.1% and a negative predictive value of >99.9%, iGene® has higher reliability and detection rates as compared to than most NIPT screening tests available5-7.
Sangat akurat -Dengan nilai prediksi positif 95.1%, iGene TM memiliki tingkat akurasi dan deteksi tertinggi, dibandingkan dengan tes skrining NIPT lainnya 5-7.
Most comprehensive - Uses Whole Genome Sequencing approach that reads millions of gene sequences across all chromosomes to ensure comprehensive coverage.
Paling lengkap - – Menggunakan metode Whole Genome Sequencing yang dapat membaca jutaan urutan gen untuk memastikan cakupan yang lengkap.
Clear and simple report - Delivers critical information as definitive results that don’t rely on ambiguous numerical risk scores.
Laporan yang jelas dan sederhana - Memberikan informasi penting sebagai hasil yang pasti yang tidak bergantung kepada skor resiko numerik yang tidak pasti.

What does iGene® screen for?

Trisomy Aneuploidies

These conditions occur when there is an abnormal number of chromosomes, in this instance, the conditions detected below, are due to three copies of the particular chromosome instead of the usual two copies.

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

People typically have two sex chromosomes in each cell: females have two X chromosomes, and males have one X and one Y chromosome. These types of aneuploidies occur when there is a change in the normal number of sex chromosomes.

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

Microdeletions are chromosomal abnormalities caused by small missing pieces in the chromosomes and can occur on any of the 23 pairs of chromosomes. The deletion usually occurs due to chance and are rarely inherited from a parent or link to any risk factor such as maternal age. The health problems associated with the various microdeletion syndromes are connected to which chromosome affected, the size and position of the deletion. The lists of 9 microdeletion syndromes detectable by iGene™ provide parents-to be valuable information in preparing for newborn care. It should be noted that not all the symptoms listed below for the microdeletion syndromes will be present as it is subjected to the size of the microdeletion as well as the number of critical genes which are missing due to the deletion.

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 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. other organs.

22q 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.

 
7q deletion syndrome
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)
Affects estimated one in 10,000 to 30,000 newborns
Most mothers carrying babies with a 15q11.2 microdeletion syndrome 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.
  • People who have this microdeletion can have either Prader-Willi syndrome or Angelman syndrome.
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 - 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.

Resources - For more information on the list of chromosomal abnormalities listed above, do visit:
  1. Genetic Home Reference: http://ghr.nlm.nih.gov/
  2. National Organization of rare disorders (NORD): https://rarediseases.org/
  3. National Centre of Biotechnology Information. National institute of Health: http://www.ncbi.nlm.nih.gov/
  4. Online Mendelian Inheritance in Man: http://www.omim.org/
  5. Zhang H, et al. 2015. Ultrasound Obstet. & Gynecol. 10.1002/uog.14792.


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