A SIMPLE SCREENING

BabySafe
Non-Invasive Prenatal Testing

BabySafe NIPT is a prenatal test to screen for 23 fetal chromosomal abnormalities and up to 60 microdeletions/microduplications by sequencing the maternal plasma cell-free fetal DNA (cfDNA) derived during the pregnancy using Next Generation Sequencing Technology.

UNDERSTANDING NIPT

What is Non-Invasive Prenatal Testing (NIPT)?

BabySafe NIPT is a prenatal screening test during pregnancy to identify the risk of the baby for having certain birth defects or genetic conditions.

During pregnancy, DNA is released from the placental cells of the fetus and being circulated freely in the mother’s bloodstream along with the maternal cell-free DNA (cfDNA).

This test method examines the cfDNA isolated from the maternal blood sample and identify the DNA fragments that are derived from the fetus. The percentage of fetal cfDNA in the maternal blood, which is known as the fetal fraction, is generally at the range of 3-30%, depending on the gestational age, maternal weight, and mother’s health conditions. By determining the genetic sequence of the fetal cfDNA, the test is able to identify any missing or extra genetic materials that may lead to certain birth defects or genetic conditions.

When should mothers be tested?

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.

How is Babysafe’s NIPT done?

Collect 10mL of blood sample into the provided Streck’s cfDNA blood collection tube which contains stabilizing solution to maintain the integrity of cfDNA. After collection, store tube at room temperature (6 – 30 °C) and contact your sales representative and ship within 2 days after collection.

When are the results ready?

The results are ready within 5-7 working days after the laboratory receives the blood sample.

SERVICES

Which screening tests are offered?

For singleton pregnancy, we are able to screen for 22 types of fetal chromosomal aneuploidy, sex chromosome aneuploidies and up to 60 microdeletion/microduplication syndromes. For twin pregnancy, only 22 types of fetal chromosomal aneuploidy and sex chromosome aneuploidies are screened. 

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 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 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 monosomy X are biological females who have one X chromosome instead of two. Unfortunately, a high proportion of pregnancies with monosomy X will result in a miscarriage in the first or second trimester of pregnancy. Babies with monosomy X that make it to term may have heart defects, learning difficulties, and infertility. In most cases, babies with monosomy X will need extra medical care including hormone therapy at various stages of life.

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.

Babies with XYY syndrome have one X chromosome and two Y chromosomes (XYY). Most babies with XYY syndrome do not have any birth defects. Children with XYY could be taller than average and have an increased chance for learning, speech, and behavioral problems. Approximately 1 in 1,000 biological males will be born with one X chromosome and two Y 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.

BabySafe NIPT has high sensitivity and proven positive predictive value (PPV)

GOLD STANDARD

Our
Technology

Our BabySafe NIPT utilizes Next Generation Sequencing (NGS), which is a massively parallel sequencing technology that determine the genetic sequence of the whole genome with high accuracy at 2.5 million mappable sequenced read per sample. By sequencing the whole genome and evaluating all chromosomes, our NIPT is able to identify fetal chromosomal aneuploidies including sex chromosomal aneuploidy, as well as up to 60 microdeletions/ microduplications of >5Mb.

Our method allows precise molecular counting, which directly reflects the quantitative differences in the number of chromosomes to identify missing or extra materials. The difference is statically calculated as many deviations from the normal number of chromosomes. Our analysis pipeline consists of an automatic analysis combined with expert strict review process using a GC-correlation methodology with comprehensive statistical model, making it as a well-adapted reporting score for accurate judgement of the NIPT result.

UNDERSTANDING THE RESULTS

What does the
result mean?

If the test result is low risk, the fetus has a low risk of developing the target disease of this screening. However, the possibility of other abnormalities cannot be excluded, and systematic ultrasound examinations and other prenatal examinations should be conducted.

As a non-invasive method, NIPT acts as a screening test and an invasive confirmatory test is required if there is any high-risk result.

  • If the test result is high risk, genetic counselling and invasive prenatal diagnosis are needed.
  • 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.

QUALITY YOU CAN TRUST

Our
Laboratory

Established since 2007, Synapse Laboratory has been providing medical testing services including genetic testing for fetus and newborns.

Our laboratory for prenatal testing was established using specialized laboratory instruments for the applications of Next Generation Sequencing. Blood sample is collected using Streck’s cell-free DNA blood collection tube which consists of patented portfolio of stabilization solutions to maintain sample integrity.

Our team of highly experienced experts in prenatal screening comprises of scientists, pathologists, clinicians and genetic counsellors. With quality results and interpretation, we provide holistic support to physicians and parents for follow up actions.

Synapse Laboratory participates in the College of American Pathologists (CAP) non-invasive prenatal testing (NIPT) proficiency testing program, a quality control program used by medical laboratories across the world to assure the accuracy of prenatal test results.

Synapse Laboratory is MS ISO 15189 and CAP accredited.

Technology Partners

Synapse Laboratory partners with market-leaders in newborn screening and facilitate innovative new technologies to offer unique screening and diagnostic solutions.

INDUSTRY EXPERTS

Consultant and Scientific
Advisory Panel

Synapse Laboratory has a panel of pathologists and consultants who are highly experienced in the specific field to supervise the operation of each department. (link to consultant page)

For NIPT, the molecular genetics department is supervised by Dr Sasi Devi Saminathan, who is a Consultant Clinical Molecular Geneticist, PhD (Post Genomic Biosciences). She has 13 years of experience in laboratory medical genetics practice and is trained with sound knowledge in molecular cytogenetics. She will review the results and provide recommendation and comment for the NIPT reports, especially for high-Risk results. The entire laboratory workflow is supervised by our Lab Manager, Dr. Jeanie Soe to ensure high quality results are delivered for our clients.

Support for laboratory
test result

Despite the use of the best technology available, NIPT results may have variable interpretation occasionally. This is due to the physiological differences between pregnant women, which are not limited to:

  1. Low gestational age
  2. Maternal Obesity and high BMI
  3. In vitro fertilization (IVF) fetuses
  4. Placental dysfunction and hypertensive disease in pregnancy
  5. Specimen-related issues leading to degradation of DNA and data fluctuation
  6. Early loss of a twin
  7. Maternal diseases or severe immune maternal disorders

Interpretation of Failed or No call result

The laboratory shall assist clinician to provide a conclusive result for their patients if the following are possible:

  1. Three main syndromes will be reported as per routine laboratory turnaround time.
  2. Microdeletion/microduplication shall be re-analysed. In this case, the results for microdeletion may be delayed.
  3. Based on outcome of the result, especially due to low fetal fraction, the laboratory will recommend a redraw of blood.
  4. In the very rare event of failed result due to immunologic or metabolic factors, the clinician should consider alternate screening, such as First Trimester Screening (FTS), Second Trimester Screening (STS), amniocentesis or ultrasound as clinically advised.

NIPT is more accurate than traditional first trimester screening tests for chromosome conditions such as ultrasound or blood tests for biomarkers. However, the results are for reference only, not for the final diagnosis.

This method is not suitable for testing especially in the situation where one partner has a definite chromosomal abnormality, individuals that received allogeneic blood transfusion, transplantation and allogeneic cell therapy within 1 year, individuals with fetal ultrasound result suggested that there were structural abnormalities and prenatal diagnosis was needed, a family history of genetic

REACH OUT TO US

Offer Babysafe Services to your patients

As part of our commitment to help healthcare professionals further understand the diseases, we provide consultation on our services by experienced professionals. Doctors and medical professionals seeking to understand more about our Non-Invasive Prenatal Test (NIPT) and the services offered by Babysafe please reach out to us to find out more

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