NIPT ,,hjkhkjhklhdashfs New Horizons in fetal medicine

Dr. Sharda Jain Dr. Jyoti Agarwal Dr. Jyoti Bhaskar

OUR TEAM

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AGE &MISCARRIAGE RATE

Age 30: 7-15%

Age 31-34: 17-21%

Age 35-39: 17-28%

Age 40: 40-52%

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10% of eggs are aneuploidic in young women

30% at the age of 40

50 % at the age of 43

Nearly all the eggs are aneuploidic at the age of 45

ANEUPLOIDY

Aneuploidies are a major cause of perinatal mortaility and

morbidity. The most common

Aneuploidies are the Trisomies.

Hard Facts

Hard Facts • The detection chromosomal

abnormalities is a common indication for invasive prenatal testing;

• Amniocenesis • Chorian villous sampling are associated with an increased risk of

miscarriage.

FIGO GUIDELINES 2015• During the past twenty years, non-

invasive screening tests have proved of increased utility in prenatal diagnosis.

• FIGO GUIDELINES 2015 HAS SUGGESTED TO USE MORE AND MORE NON – INVASIVE SCREENING TESTS IN OUR DAY TO DAY PRACTICE

History In the 1970s, the main method of

screening for aneuploidies was a maternal age of over thirty five years.

Materanal serum AFP screening was then widely adopted and had the potential to increase the detaction rate.

History In the late 1980s – biochemical markers –

human chorionic gonadothropin hCG, unconjugated estriol (uE3) and later inhibin A were discovered.

Late 1990s and early 2000s, saw the introduction of ‘First trimester screening’.

Combined test(NT Scan + Dual Test)

Combined test performed between 11 and 13 +6 weeks of gestation.

A blood sample is obtained and an ultrasound examination is carried out.

A combination of maternal age, fetal nuchal translucency (NT) and two pregnancy hormones PAPP- A and free beta HCG are measured.

Triple Test is on its way out

Quadruple Test Quadruple Test : can be performed between 14+2

and 22+6 weeks of gestation.

The concentration of four markers are measured in the mother’s blood;

AFP, hCG, uE3 and inhibin-A. It has detection rate of 80% and a false positive rate

of 3 %

NIPT (NON – INVASIVE PRENATAL TESTING )

NIPT is a new “ blood test for Down’s syndrome and other common aneuploidies” and has better results.

99.9 % ACCURANCY

NIPTThe presence of fetal cells in maternal

blood was initially reported in 1969 , and this test is able to detect small fragments DNA from the baby, in mother’s blood.

This is called cell – free fetal DNA (cffDNA).

Indications for NIPT - Increased risk from prior screening- Advanced maternal age ( 35 yrs & plus)

- Maternal anxiety as in IVF pregnancy - Previous affected pregnancy

All factors requiring need for further reassurance and

information prior to making decisions around invasive

testing

Counseling is the key

Procedure - Consultation & Counseling of the patient - Scanned and dated by ultrasound including

fetal number and chorionicity - 10 or 20 ml Maternal venous blood in Streck

tube, as indicated - Consent / Order form completed - Dispatch to be received in the lab within 72-

96 hours

- Results back within 5 – 12 working days (depending on the lab)

- Results relayed to patient and posted (phone and post)

- High risk screen results are reported to the Healthcare Professionals and a follow up is arranged.

- Counseling and discussion regarding an regarding an invasive procedure to confirm the high risk NIPT result.

Procedure

Conclusions Pregnant women should be given

information on the screening process prior to prenatal screening.

Screening tests should be offered to all pregnant women.

They should be provided with an opportunity to discuss with the health professional before making a decision to accept/decline screening.

Screening tests do not give a definitive prenatal diagnosis, but do provide a risk/probability of a problem.

Following the screening test, results must be explained to the patient.

However further tests are rardy required to confirm/diagnose a foetal abnormality .

One must respect the decision of every pregnant woman.

Conclusions

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