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Empowering

Assured Decisions

Next Big Leap In Prenatal Screening

For reliable, personalized and accurate genetic screening

What is Non Invasive

Prenatal Screening Test

(NIPT) ?

What conditions are

screened in NextGen NIPT

& NextGen NIPT Advanced?

What is the right time to

opt for NIPT?

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PPV and NPV for the conditions

screened by NextGen NIPT?

Indications for NIPT?

Any time after 10 weeks’ gestational age, NIPT can

be offered to the patient for singleton pregnancy

and twin pregnancy. In case of vanishing twin

pregnancies, there should be 8 weeks gap

between vanishing event and sample collection.

NextGen NIPT

screens for the

following conditions:

NextGen NIPT

Advanced screens for:

3 Common Aneuploidies:

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5 Sex Chromosome Aneuploidies:

Trisomy 21 (Down Syndrome)

Trisomy 18 (Edwards’ Syndrome)

Trisomy 13 (Patau Syndrome)

Note: Sex chromosome abnormalities are not reported

in Twin Pregnancies and Vanishing Twin Pregnancies.

Note : Aneuploidies including monosomy and

trisomy of chromosomes other than Trisomy 13, 18, 21

are called Rare Autosomal Aneuploidies (RAA).

Accuracy for RAA is lower than common

trisomies.

Advanced

Maternal

Age1,2,3

Abnormal

USG or presence

of soft markers

on USG

suggestive of

common

aneuploidies

Recurrent

Pregnancy

Loss

affected

pregnancy1

High risk /

intermediate

risk on maternal

screening test

PPV

>99.99%

94.44%

95.83%

97.78%

99.98%

>99.99%

99.98%

98.73%

(93.15%-99.97%)

>99.99%

(89.72%-100%)

>99.99%

(85.18%-100%)

97.78%

(88.23%-99.94%)

>99.99%

(93.15%-100%)

99.97%

(99.88%-100%)

99.98%

(99.91%-100%)

99.98%

(99.9%-100%)

NPV

SENSITIVITY

(95% CI)

SPECIFICITY

(95% CI)

T21

T18

T13

SCAs

CONDITIONS

PPV - Positive Predictive Value NPV - Negative Predictive Value

SCAs - Sex Chromosomal Aneuploidies

NIPT is a non-invasive and accurate

chromosomal aneuploidy screening test

which is available as early as 10 weeks of

pregnancy.

It is a safe and simple blood test with highest

detection rate (amongst screening tests)

wherein the cell free fetal DNA, circulating in

maternal plasma is tested for common

chromosomal aneuploidies.

This test decreases the chances of procedure

related risk of abortion in expectant mothers.

What is fetal fraction cut-off

for NextGen NIPT?

What are the limitations

for NIPT?

There is a minor possibility for false positive

or false negative results. This may be

caused by technical and/or biological

limitations, including but not limited to:

Contraindications for NIPT?

Fetal fraction is the amount of fetal cell

free DNA obtained from the maternal

blood. The fetal fraction cut off for

NextGen NIPT is 3.5 %

Fetal fraction less than 3.5 % leads to

inconclusive reports, in such cases

repeat sample testing should be

considered.

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other types of Placental Mosaicism

Maternal constitutional or somatic

chromosomal abnormalities

Residual cf-DNA from a vanished twin or

other rare molecular events 4

Cancer

Chromosomal

abnormality

Organ transplant,

stem cell therapy/

immunotherapy

Multiple pregnancy

greater than twins

If parents have a

known family history of

single gene disorders2

Patients on

Anticoagulants and

Cytotoxic drugs

What should be done after

getting a high risk/ low risk

report on maternal screening?

The patient should

be given an option

for undergoing

��NIPT (which is

more sensitive

than maternal

screening but, a

screening test)

��Diagnostic tests

like Karyotyping,

FISH or Microarray

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samples.

NIPT can be

prescribed in

cases of:

1. Increased

maternal age.

2. Previous history

of child with

chromosomal

abnormalities.

3. USG

abnormalities.

High risk in

maternal

screening

report

Low risk in

maternal

screening

report

Intermediate

risk* in 1T

maternal

screening report

(1:251-1:1000)

*For Trisomy 21 only

METROPOLIS ASSURANCE

doing NextGen NIPT from

Metropolis?

BENEFITS

SAFE

Non Invasive with no risks of miscarriage

ACCURATE

99 % Detection Rate for Trisomy 21

FPR: <1 % Redraw rate: <1%

SAMPLE

Only uses 10 ml maternal blood

IN-DEPTH

Reports risks of aneuploidies in all autosomes

(chromosome 1-22) and sex chromosomes

PRE & POST TEST GENETIC COUNSELING

(upon request)

TECHNOLOGY

NextGen NIPT utilizes NGS based technology -

Whole – Genome Sequencing and Ion GeneStudio

S5 Plus

PERSONALIZED

to interpret and summarize every patient’s test reports

References:

1. American College of Obstetricians and Gynecologists. Committee Opinion No. 545: Noninvasive prenatal testing for fetal aneuploidy. Obstet Gynecol.2012;120(6):1532-4. 2. Devers PL, Cronister A, Ormond KE, Facio F,

Brasington CK, Flodman P. Noninvasive prenatal testing/noninvasive prenatal diagnosis: the position of the National Society of Genetic Counselors. Journal of genetic counseling. 2013 Jun;22(3):291-5. 3. Society for

Maternal-Fetal Medicine (SMFM. SMFM Consult Series# 36: Prenatal aneuploidy screening using cell free DNA. American Journal of Obstetrics and Gynecology. 2015 Mar 23. 4. Mao, Jun & Wang, Ting & Wang, Ben-Jing & Liu,

chimica acta; international journal of clinical chemistry. 433. 10.1016/j.cca.2014.03.01

What needs to be done after

getting High risk / Low risk

NIPT report?

Unlikely that the

pregnancy is affected

with chromosomal

aneuploidies covered

by this test.

Should undergo

genetic counseling

and diagnostic testing

like Karyotyping /

FISH by

Amniocentesis/CVS.

Patients with

“high risk” NIPT result

Patients with

“low risk” NIPT result

10 ml of

maternal whole

blood in streck tube

10 ml of

maternal whole

blood in streck tube

8 Days

Daily:

9:00am

Daily:

9:00am

Next Generation

Sequencing

Next Generation

Sequencing

18500

NextGen

NIPT

Advanced

N5543

16000

NextGen

NIPT

N0023_NIPS

Recommended at gestational

age :10 weeks onwards

Recommended at gestational

age :10 weeks onwards

Trisomy risk assessment for all

the autosomes (chromosome 1-22)

and sex chromosomes

Trisomy 21, 13, 18 and sex

chromosomes screening

For more details visit us at www.metropolisindia.com Join us on MetropolisLab and MetropolisLab

For queries please write to us at b2bsupport.int@metropolisindia.com

NextGen

NIPT

Advanced

N5543

NextGen

NIPT

N0023_NIPS

10 ml of

maternal whole

blood in streck tube

10 ml of

maternal whole

blood in streck tube

8 Days

Daily:

9:00am

Daily:

9:00am

Next Generation

Sequencing

Next Generation

Sequencing

Recommended at gestational

age :10 weeks onwards

Recommended at gestational

age :10 weeks onwards

Trisomy risk assessment for all

the autosomes (chromosome 1-22)

and sex chromosomes

Trisomy 21, 13, 18 and sex

chromosomes screening

THINK GENETICS.

THINK METROPOLIS

Genetic testing partner for pregnancy journey

Prenatal Genetic Testing Solutions

Empowering assured decisions

Next Big Leap In Prenatal Screening

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Where Affordability meets Assurance

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Chromosomal Microarray Analysis and Genetic Counseling

ESHRE guidelines on CMA suggests

Microarray Analysis on POC samples

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Chromosomal Microarray Solutions

Find the root cause of RPL

Developmental disabilities

Multiple congenital anomalies

Autism Spectrum Disorders

Mental retardation

Abnormal or unexplained

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Family history of a known or

suspected chromosomal

abnormality

Patients undergoing invasive

prenatal testing

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Our Experts

Genetic Counseling

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Premarital Genetic

Counseling

Pre conceptional

Genetic Counseling

Postnatal Genetic

Counseling

Prenatal Genetic

Counseling

Family history of a suspected

genetic disorder

Consanguineous Marriage

Late onset genetic disorders

Child born with suspected

metabolic disorder/chromosomal

abnormality/development delay/

dysmorphism/neurological/

neuromuscular conditions, failure

to thrive

Family history of a suspected

genetic disorder

Bad obstetric history/Recurrent

Pregnancy Loss Neonatal or

infant or fetal deaths/previous

children with metabolic disorder,

neurological issues, growth and

development abnormalities,

cardiac anomalies etc

Infertility

Screen positive for

thalassaemia/other

haemoglobinopathies

Chromosomal rearrangements

in blood karyotyping report

To book a genetic counselling session call us on : 8291858585

Positive biochemical screening

report

Soft-markers/anomalies on USG

Plan prenatal diagnosis of genetic

conditions diagnosed/yet

undiagnosed in family

Autism Spectrum Disorders

Comprehensive

Genetic Solutions from Metropolis

For queries please write to us at b2bsupport.int@metropolisindia.com

Test Code

Test Name

Description

N0023_NIPS

NextGen NIPT

Trisomy 21,13,18 and sex chromosomes

aneuploidy screening. (10 weeks onwards)

Chromosomal Array CGH, Karyotyping G-Banding and FISH of

Amniotic Fluid plus Genetic Counseling

Chromosomal Array CGH of POC plus Genetic Counseling

Amniotic Fluid

Trisomy risk assessment for all the autosomes (chromosome 1-22)

and sex chromosomes

Amniochrome

Arrayfeto

Chromosomal Array CGH

NextGen NIPT Advanced

N5543

A0658

A0657

Chromosomal Array CGH of Blood plus Genetic Counseling

Genetic Counseling and Consultation

Arraychrome

A0659

FISH for Chromosome 13,18, 21, X and Y

Karyotyping G Banding

and

FISH - Amniotic Fluid

K0026

FISH for Chromosome 13,18, 21, X and Y is

carried out for failed karyotyping culture

Karyotyping by G-Banding

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Amniotic Fluid sample

FISH for Chromosome 13,18, 21, X and Y is

carried out for failed karyotyping culture

Karyotyping by G-Banding

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CVS sample

K0006

FISH for Aneuploidy in POC - Chromosomes 13,18,21, X,Y

FISH for Aneuploidy in

POC -

Chromosomes - 13, 18, 21,

X and Y

K0010

FISH for Chr 13,18, 21,22,16, X and Y is done

FISH for Aneuploidy in

POC -

Chromosomes - 13,16,18,

21, 22, X and Y

K0005

For numeric and structural anomalies

Karyotyping by

G-Banding -

Blood

K0012

Either NIPS or Karyotyping- FISH is given at no additional cost for

screen positive and intermediate risk (For T21) cases in 1st

Trimester

Pregascreen Dual

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Either NIPS or Karyotyping- FISH is processed for screen

positives of quadruple marker test (14 to 22.6 weeks)

Pregascreen Quadruple

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Genetic counselling

G0078

C0340

K0007

For Further Inquiry Contact +919212124080 / For Technical Related Query +919096194612

(Chromosomal Array CGH and Genetic Counseling)

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RECOMMENDS

ACOG

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RECOMMENDED

Notes: For test code A0657:

* 1) History of previous abortion/s and details of USG scan if done is required 2)Never add formalin or freeze

** 1) Upto 12 weeks of gestation: 50-100mg placental villi (fetal side) in 20ml normal saline with 2-3 drops of gentamycin in a sterile container.

2) In 12-18 weeks of gestation: a) 50-100mg placental villi (fetal side) in 20ml normal saline with 2-3 drops of gentamycin in a sterile container. b) and or fetal Muscle tissue preferably

medial aspect of thigh muscle or a fetal toe in sterile container.

3) IUFD >20 weeks of gestation: fetal Muscle tissue preferably medial aspect of thigh muscle or a fetal toe in sterile container. if possible in 20ml normal saline with 2-3 drops of gentamycin.

3ml Mothers Blood in EDTA vacutainer mandatory for A0657.

Test Code

Test name

Details

Method

Sample

Test Schedule

Reported On

A0657

ARRAYFETO

Chromosomal Array CGH, Genetic counselling Consultation

Array CGH

For sample details, please

refer note below(**)

Daily: 9am

15th day

please refer note below(*)

K0010

FISH for Aneuploidy in

POC - Chromosomes

13,18,21, X,Y

“In case of expected delay, store at 4 degree. Provide clinical

details. Never add formalin or freeze

FISH

POC in sterile container

with normal saline with

few drops of antibiotic

Daily: 9am

6th day

K0005

FISH for Aneuploidy in

POC - Chromosomes

- 13,16,18, 21, 22, X

and Y

FISH

POC in sterile container

with normal saline with

few drops of antibiotic

Daily: 9am

6th day

In case of expected delay store at 4 degrees. Provide clincial

details. Never add formalin or freeze

POC GENETIC TESTS OFFERED BY METROPOLIS

For more details visit us at www.metropolisafrica.com | Join us on MetropolisLab and MetropolisLab

For queries please write to us at b2bsupport.int@metropolisindia.com

For more details visit us at www.metropolisindia.com | Join us on MetropolisLab and MetropolisLab

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