i-screen

(Newborn Genome Screening)

The faster you know,

The more accurate you know.

“Is it all you see in your baby?“
i-screen empowers parents with valuable insights into their babies’ genetic health and intervention for potentially inherited conditions.

Easy Collection

0.5ml is needed

FREE for Parents

If baby has
a positive result

Genomic Disorder

Checked by NGS

What is i-screen ?

Newborn Genome Screening is a comprehensive genetic test performed shortly after birth to evaluate a baby’s DNA for potential genetic disorders. It involves analyzing the entire genome and providing valuable information about your baby’s risk for various inherited conditions.
i-screen can help identify conditions that may not be apparent at birth, allowing for early intervention and personalized medical management. By detecting genetic disorders early, parents can make informed decisions about their child’s healthcare and potentially improve long-term outcomes.

What does i-screen for?

check for chromosomal Numerical & abnormalities in newborns

Why do Genomic Disorders Occur ?

Turner Syndrome

DiGeorge Syndrome

Cri Du Chat Syndrome

Genomic disorders can occur to anyone during the fertilization and cell division processes of the pregnancy. In most cases, genomic disorders do not have a hereditary nature. The risk of occurrence is the same in every pregnancy regardless of family history. Few diseases occur naturally with older maternal age.

How does i-screen work?

After consulting with your doctor about necessity of genetic test, little amount of blood will be drawn.

Your blood sample will go through NGS and get an interpretation from specialized medical doctors at GC Genome Laboratory.

Your results are sent to your healthcare provider in 5 days.

How is it different from CMA* test?

Category i-screen Chromosomal Micriarray(CMA)
Purpose Chromosome disease screening Chromosomal disease diagnosis
Method Targeted DNA CNV(NGS) Chip-based array CNV
TAT 6days 10days
Detection rate 10~15% 15~20%
Markers CNV
SNP		 Not applicable
Not applicable		 550,000
220,436
Types of
chromosomal
abnormalities		 Deletion >400kb >400kb
Gain >400kb >400kb
UPD – O
Monosomy/
Trisomy		 O O
Trisomy O O
Unbalanced translocation X O
Balanced translocation – –
mosaicism – △

(According to the number of cells)
homozygosity – O
inversion – –
Loss Of Heterozygosity
(LOH)		 – >5Mb

i-screen can show a [97.83%] match rate compared to the confirmation test.

Who should consider having i-screen?

Genomic disorders can occur to anyone during the fertilization and cell division processes of the pregnancy.
In most cases, genomic disorders do not have a hereditary nature. The risk of occurrence is the same in each pregnancy regardless of family history. Few diseases occur naturally with older maternal age.

If certain regions of the chromosomes are duplicated or deleted, there may be signs of mental retardation.
Developmental delay, autism, and other distinctive symptoms.

In some cases, the symptoms may stay imperceptible at the newborn stage but manifest gradually as the child grows.
Most cases of genomic disorders cannot be cured completely.

The faster we find out, and the more accurate we know, we can apply the appropriate treatment for the child early to ease the symptoms effectively.

  • It is necessary to determine whether the chromosomal abnormality found in the child is a natural genetic diversity derived from the parents or not. Based on this, genetic counseling is carried out. If a positive result is reported to a child under 6 months of age, parental testing can be performed at no additional cost.

  • A child’s variant is most likely a variant inherited from the parents. You can infer the symptoms your child will develop as they grow by referring to the clinical symptoms that parents appear. Also, the presence or absence of symptoms may vary depending on the location and size of the variant found in the child.

How does it works?

Clear answers in just three simple steps.

After consulting with your doctor about necessity of genetic test, little amount of blood will be drawn.

Your blood sample will go through NGS and get an interpretation from specialized medical doctors at GC Genome Laboratory.

Your results are sent to your healthcare provider in 5 days.

Disease

It caused by the absence or partial absence of one of the X chromosomes, resulting in a karyotype of 45, X0 instead of the usual 46, XX. It leads to various physical characteristics like short stature, webbed neck, and low-set ears, as well as reproductive and hormonal abnormalities, such as ovarian dysfunction and infertility. Treatment may involve hormone therapy and addressing specific health concerns associated with the condition.
Symptoms : Sex chromosome anomaly – short stature, “stalls” of sexual development during puberty

a genetic condition that occurs in males when they have an extra X chromosome, resulting in a chromosomal pattern of XXY. It typically leads to physical and developmental differences, such as tall stature, reduced fertility, and increased risk of certain health issues. Hormonal therapies and supportive interventions can help manage the symptoms and improve the quality of life for individuals with Klinefelter’s Syndrome.
Symptoms : The most common sex chromosome anomaly in men, Hypogonadism, Infertility etc.

Known as 22q11.2 deletion syndrome, is a genetic disorder caused by a small piece of chromosome 22 being missing. It leads to a wide range of symptoms, including heart defects, immune system deficiencies, cleft palate, developmental delays, and characteristic facial features. The condition varies in severity and requires a multidisciplinary approach for management, including medical interventions, therapy, and support services tailored to each individual’s needs.
Symptoms : Heart defects, Unusual facial features, Cleft palate, Hypocalcemia etc.

Known as 5p- Syndrome, is a rare genetic disorder caused by the deletion of a small piece of chromosome 5. It is characterized by a distinct high-pitched cry resembling a cat’s cry during infancy, along with intellectual disabilities, delayed development, and distinctive facial features. Early intervention, therapy, and support can help individuals with Cri Du Chat Syndrome reach their full potential and improve their quality of life.
Symptoms : High-pitched cat like cry, mental retardation, delayed development, microcephaly etc.

i-screen is a vital tool for you to identify potential genetic disorders and develop personalized treatment plans for newborns.

Easy Collection

0.5ml is needed

FREE for Parents

If baby has
a positive result

Genomic Disorder

Checked by NGS

What regions of the chromosome is covered?

To screen for 90+a Diseases, 170,000 different regions of chromosome are analyzed.

  • Diseases were selected based on the list of developmental disorders related to chromosomal abnormalities discovered until recently.
  • Selected mainly for diseases that have a high incidence and can lead to relieved symptoms through early detection and treatment.

LIMITATIONS

  • This test is a screening test for rare diseases associated with developmental disorder such as Down syndrome, Edwards syndrome,
    and Patau syndrome. If the result is positive, confirmatory tests such as karyotype analysis, FISH, microarray, etc., are needed for accurate diagnostics.
  • Genetic variants(balanced trans location, inversion, point mutation, low-level mosaicism, etc.)other than chromosomal deletion or duplication are not detected.
  • It is difficult to rule out the possibility that the disease was caused by chromosomal abnormalities that could not be detected.
  • Chromosomal deletion/duplication that has unclear clinical significance in medical level at the point of reporting is not reported.
  • This test is conducted with the consent of the patient and does not directly aim at the treatment of disease or injury.

Is the Targeted DNA CNV method1 accurate?

『

NGS technology(Targeted DNA CNV) provides test results that can replace
the conventional gold-standard Microarray(Chip-based CNV array) for chromosome analysis.

』

Why i-screen for your patients ?

Detect up to 400kb
Diseases that results from rearrangements of the human genome such as duplications and deletions.

Follow up test
i-screen family test and genetic counseling can be provided free of charge to the parents.

Easy collection
Blood paper is acceptable and
ONLY 0.5ml is needed
for i-screen.

Test Performance

i-screen VS CMA (confirmation test)

Disease

It caused by the absence or partial absence of one of the X chromosomes, resulting in a karyotype of 45, X0 instead of the usual 46, XX. It leads to various physical characteristics like short stature, webbed neck, and low-set ears, as well as reproductive and hormonal abnormalities, such as ovarian dysfunction and infertility. Treatment may involve hormone therapy and addressing specific health concerns associated with the condition.
Symptoms : Sex chromosome anomaly – short stature, “stalls” of sexual development during puberty

a genetic condition that occurs in males when they have an extra X chromosome, resulting in a chromosomal pattern of XXY. It typically leads to physical and developmental differences, such as tall stature, reduced fertility, and increased risk of certain health issues. Hormonal therapies and supportive interventions can help manage the symptoms and improve the quality of life for individuals with Klinefelter’s Syndrome.
Symptoms : The most common sex chromosome anomaly in men, Hypogonadism, Infertility etc.

Known as 22q11.2 deletion syndrome, is a genetic disorder caused by a small piece of chromosome 22 being missing. It leads to a wide range of symptoms, including heart defects, immune system deficiencies, cleft palate, developmental delays, and characteristic facial features. The condition varies in severity and requires a multidisciplinary approach for management, including medical interventions, therapy, and support services tailored to each individual’s needs.
Symptoms : Heart defects, Unusual facial features, Cleft palate, Hypocalcemia etc.

Known as 5p- Syndrome, is a rare genetic disorder caused by the deletion of a small piece of chromosome 5. It is characterized by a distinct high-pitched cry resembling a cat’s cry during infancy, along with intellectual disabilities, delayed development, and distinctive facial features. Early intervention, therapy, and support can help individuals with Cri Du Chat Syndrome reach their full potential and improve their quality of life.
Symptoms : High-pitched cat like cry, mental retardation, delayed development, microcephaly etc.

How does i-screen work?

Discuss testing and collect
your patient’s blood sample and
send it to GC Genome Laboratory.

Receive results within
10 days and discuss
with your patient.

If you need genetic counseling
based on the result,
please contact your account manager.

Samples should be at least 8.5 ml(WB) of maternal blood and are stable for 7 days when stored at room temperature.
After collecting it in a dedicated container, shake it slowly 8 to 10 times. In the case of storage, so please do not open the plastic packaging so that the contents in the tube(preservative) do not dry out.

It is recommended to test G-NIPT at 10 to 22 weeks of gestation.

Resampling is usually required when the fetal fraction in the maternal blood is low. Causes of low Fetal fraction include early gestational age, high maternal weight, abnormalities in the fetus itself, and unknown causes.

The neural tube defects cannot be observed in all NIPT test.

Yes, it is possible. However, in the case of twins the results including T21, T18, T13, total chromosomal aneuploidy, and deletion and duplication syndromes (7Mbp or more) are reported, except for the sex chromosome aneuploidies.

The NIPT test for multiple fetuses is not recommended according to the literatures because the verification is not sufficient yet.

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