Non invasive prenatal test

婦健 Femina Healthcare 4D Ultrasound, Prenatal Diagnosis & Treatment Centre 8 704-707 ( A2 ) Suite 704-707, Grand Centre, 8, Humphrey Avenue, Tsim Sha Tsui (TST MTR A2 Exit) 23682333

Non-invasive Prenatal Screening or Testing (NIPS or NIPT)

We care, we provide various range of accurate NIPT to suit your need.

Like cars, telephone, flowers and cakes; everyone may need different type of NIPT.

Booking telephone: 23682333

Brand NEW: NIPT for 46 chromosomes & 30-44 gene mutations.

Most complete and comprehensive NIPT ($14,000-25,000).

Now NIFTY only offers NIFTY PRO, new price $4400/4900

NEW:  VISTARA can screen for new gene mutation (1 in every 600 babies has it).

VISTARA is the only NIPT in the market that can screen for gene mutation.

2019 Clinic Price (original price):

safeT21 from $4900 ($6000); NIFTY PRO $4400/4900 ($6500)

Harmony $3500/4000 (performed in USA price $5500)

Panorama from $4000/4500; Extended $5500 (price $6000/$8000)

Faest $3000/3500 (Korean largest Bio-Technology company $5000)

NEW: Vistara 30 single gene mutations $14,000 (price $20,000)

(affecting cardiac, skeletal and neurology)

Do I need NIPT? If you afford it or high risk of chromosome abnormality.

How to choose the best NIPT for me?

1. If you want most comprehensive

safeT21 Advance ($6500). Screened 23 pairs of chromosomes.

T21 has >99% in detecting Trisomy 13, 18 & 21.

More false positive and amniocentesis for tests that are not validated.

Problem maybe at placenta, called confined placenta mosaicism (5-10/1000).

Detection of this may increase your chance of amniocentesis.

Advance panel safeT21 may detect extra 1/1000 abnormal chromosome.

The test can double your risk of amniocentesis due to uncommon trisomies.

2. If you have high risk Down syndrome.

Choose Harmony, Faest or Panorama Basic (from $3000).

Detection rate for Down Syndrome is >99% (same as NIFTY & T21).

Panorama has the highest detection rate compared among all NIPTs.

Accurate, more specific, better pricing.

Panorama is being offered at Hong Kong University private clinic.

3. If you concerned about microdeletion and DiGeorge syndrome (22q11)

Panorama ($4500/$5500), detect more than 90% microdeletions.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825123/

ALL other panels (T21, NIFTY, Harmony) only can detect 60-80% of microdeletions.

https://www.karger.com/Article/Pdf/484317

4. If you have nuchal translucency > 3.5mm or structural anomalies

It is advisable to have invasive procedure (amniocentesis) for microarray (a-CGH).

If you refuse, can choose safeT21 Advanced panel, but may miss many conditions.

PACKAGE:

Those with safeT21 Advanced done at our clinic $500 rebate for the Anomaly Scan (package)

Fetuses with fetal anomalies & thick nuchal translucency (>3.5mm), should considered amniocentesis/CVS (not NIPT).

NIPT is originally developed for the screening of Down syndrome.

1. Test performs at or after 9-10 weeks pregnant.

2. Most common trisomies (13, 18 & 21) can be screened

Down Syndrome, Edward & Patau syndromes (1-2 babies per 1000)

HARMONY has largest published data support.

3. Most sex chromosome abnormalities (1-2 babies per 1000)

Turner syndrome, Jacob, Klinefelter syndromes.

4. Molar pregnancy or Triploidy (1 in 1000)

ONLY be detected by Panorama test.

5. Microdeletion chromosomal abnormalities (defect < 5Mb)

PANORAMA is most accurate in detecting >90% microdeletions.

https://onlinelibrary.wiley.com/doi/full/10.1111/cge.13098

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5825123/

All other brands (NIFTY and safeT21 only detect 60-80%).

Because they only detect defect > 3Mb), Panorama can detect defect < 3Mb.

DiGeorge syndrome (22q11.2, prevalence 1 in 1000-2000);

1p36 deletion (Prevalence 1 in 5000);

Cri-du-chat syndrome (Prevalence 1 in 20000);

Angelman syndrome (Prevalence 1 in 12000)

Prader Willi syndrome (Prevalence 1 in 10000).

The above are the most common microdeletion syndromes (1 in 1000)

6. Other extra chromosome analysis (less than 1 in 1000)

NIFTY-PRO test offers 85 microdeletion and duplication.

Advanced Panel: Checked all 3 billions base pairs, 23 pairs of chromosomes.

Disadvantage: Most conditions are not validated, thus may not be very accurate.

More amniocentesis because of wrong diagnosis, mostly confined placenta mosaicism.

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1050657/pdf/jmedgene00261-0001.pdf

False positive:2-3 abnormal results only detect 1 abnormal case.

7. Vistara NIPT Single Gene Mutation Screening (1-2 per 1000 babies)

https://www.feminahealthcentre.com/vistara-natera

De Novo gene mutations occur in 1 in every 600 babies.

During pregnancy, the unborn child releases DNA into mother's blood.

NIPT measures the amount of DNA from chromosomes 21, 18 and 13 in the blood.

An abnormally increased amount of chromosome 21 DNA is suggestive of Down syndrome.

Large-scale clinical studies have shown:

1. NIPT can detect >99% of Down syndrome fetuses.

The test has a false-positive rate of 0.1%.

2. NIPT can detect 95-99% of Trisomy 18 (Edward syndrome) fetuses.

3. NIPT can detect 90-95% of Trisomy 13 (Patau syndrome).

All abnormal result need invasive prenatal procedure to confirm (amniocentesis).

Other chromosome abnormality can be detected:

A. Sex chromosome aneuploidies)

B. Other syndromes (e.g. microdeletions related syndromes)

C. New mutations VISTARA (De Novo)

 

Advantages and disadvantage of each panel:

1. safeT21 Advanced Panel

Advantages:

a. Accurate in detecting Down Syndrome, Edward & Patau syndromes

b. Validated for Trisomy 13, 18, 21 and sex chromosomes.

c. Fastest (Turn around time, 3-7 days

d. Screen more chromosomes than other panels.

e. Fetal gender accuracy 99.6%

Disadvantages:

a. Less accurate than Panorama in detecting microdeletions (70% versus 90%).

b. Likely to have more false positive (more amniocentesis).

c. False reassuring (not suitable for those with structural anomalies or thick NT).

2. NIFTY PRO

Advantages:

a. Accurate in detecting Down Syndrome, Edward & Patau syndromes

b. Screen more chromosomes & microdeletions

Disadvantages:

a. Not validated for all tests covered, accuracy not known.

b. Less accurate than Panorama in detecting microdeletions (<70% versus 90%).

c. Least accurate in detecting fetal gender or sex (98%, other panels > 99%).

d. Likely to have more false positive (more amniocentesis)

e. False reassuring (not suitable for those with structural anomalies or thick NT).

3. PANORAMA

Advantages:

a. Validated for all chromosomes and microdeletions covered

b. Highest detection for microdeletions

c. Can differentiate fraternity twin, sex for each twins, DNA fraction for each twin.

d. Likely to be more accurate for twin.

e. Less likely to need amniocentesis after test (false positive)

f. Only test that can screen for triploidy.

g. Most accurate in fetal gender or sex determination (99.9-100%).

h. Screened after 9 weeks (other panel after 10 weeks).

Disadvantages:

a. Small trials included.

b. Panel only included 15 items

4. HARMONY

Advantages:

a. Validated for all chromosomes and microdeletion covered

b. Have the largest published data in the medical literature

c. Less likely to need amniocentesis after test (false positive)

f. Good value for money (pricing)

Disadvantages:

a. Panel only included 6 items

5. FAEST (Korean, biggest bio technology company, World no. 6)

Advantages:

a. Accurate in detecting Down Syndrome, Edward & Patau syndromes

b. Cheap but result not validated.

c. Accurate in detecting fetal sex (> 99.8%)

d. Fast, 5-7 days for result

Disadvantages:

a. Not validated in trial (only company data provided).

 

Company informations:

safeT21, Xcelom, Berry Genomics, China.

NIFTY PRO, BGI, China.

Harmony, Roche, United States of America.

Panorama, Natera, Carlifornia, United States of America.

Faest, Macrogen, South Korea (Korea largest Bio-Technology company, world number 6).