down’s syndrome/ nipt or niftyis the bes/t sharda jain/amniocentesis

Down’s Syndrome

Dr. Sharda JainDr. Jyoti Agarwal

Dr. Indu Tyagi Dr. Rashmi Jain …Caring hearts, healing

hands

What Pregnant women should

know?

LIFE CARE CENTRE HAS LOADED OVER TWO HUNDRED PPT RELATED TO GYNAE & PREGNANCY CARE

Slideshare.net/lifecarecentre/Dr. Sharda Jani

Chromosomes are made up of thousands of genes and are

located inside all of the cells in the body.

Normally, each person has 46 chromosomes.

…Caring hearts, healing hands

Down Syndrome Karyotype

What is Down’s Syndrome?Down’s syndrome is the most

common chromosomal abnormality in new-borns and is the commonest cause of severe learning disabilities is children. Down’s syndrome is also called

Trisomy 21.

An affected child will have moderate to severe learning

disabilities, low IQ, characteristic physical

Down’s Syndrome


Down’s Syndrome

Appearance (flat face, slanting eyes)

and can have heart defects as well as gastrointestinal

problems.


Is treatment available for Down’s syndrome?

No, there is no way to prevent Down’s syndrome or to treat it.

Cardiac and gastrointestinal defects can be taken care of by in-times surgery, but learning deficits

and low IQ cannot treated.

How serious is the mental handicap/learning deficits in

Down’s syndrome?


Majority of children with Down’s syndrome has mental retardation; usually it is mild to

moderate with IQ of 45-48. Children with Down’s syndrome learn to sit, walk, play, train toilet and do other activities but somewhat later than their peers without

Down’s

Down’s Syndrome


Down’s SyndromeSyndrome. After getting into

adulthood they can do the routine household work but require care ad

attention from members and caretakers lifelong as they lack the

required for independent living.


What is the usual incidence of Down’s syndrome?

The incidence of Down’s syndrome is around 1 in every 660 births. Most of the times, the

occurrence of Down’s syndrome is due to a random event occurring during the formation of the

reproductive contain an extra copy of chromosome 21 increases dramatically as women ages, so as so

that by the age of 35 years the risk of having a Down’s syndrome increases to 1 in 356.

Paediatr Perniat Epidemiol. 2003 Jan; 17(1):33-9.

Can 1 have Down’s syndrome baby?

Yes , it may affect any pregnancy. The incidence of Down’s syndrome

rises with increasing maternal age, but about 75% of the babies with Down’s

syndrome are born to younger women.

Caring hearts, healing hands

Can 1 have Down’s baby even if 1 don’t have any family history of Down’s

syndrome?

Yes, even if you don’t have a family history of Down’s

syndrome you can have Down’s syndrome baby.


Is it possible to test for Down’s syndrome prenatally?

Yes, there are screening tests available to screen for Down’s syndrome.


What is screening test?These are the blood tests done on the mother’s blood to measure the levels of hormones normally present during the pregnancy. These tests combine the results of the ultrasound scan of

the foetus, to estimate the risk of Down’s syndrome.

When can it be done?Screening test can be done both in first and

Second trimester.


It is done between 11-13 weeks of gestation and is known as ‘dual test’. Down’s syndrome risk

estimation is done by combining two independent (serum and ultrasound)markers.

Serum levels of b-hCG and PAPP-A are measured and combined with ultrasound markers such as

nuchal translucency, nasal bone and with maternal age.

Screen positive rate -3 to 5%85% detection rate(sensitivity)

In first trimester

Those who book too late for a combined test, or those in whom it is not possible to measure the

nuchal translucency, should be offered the quadruple test.

This is a biochemical test is formed between 14 weeks 2 days and 20 weeks.

It has screen positive rate of 4-5%.Detection rate 80% only(sensitivity).

***In Second trimesterQuadruple test


It is not popular and given up by gynaecologists

as its accuracy is only 60%

In second trimester***Triple test


NIPT or NIFTYis the best

Accuracy 99.9% But Expensive – 25KFast replacing the need of Amniocentesis & chorion villusBiopsy


What does a positive test mean? Does it mean the foetus has

Down’s syndrome?No, positive test means an ‘increased

risk’, that is the risk of Down’s syndrome has reached or exceeded

the recommended cut-of level (usually 1 in 150).


What needs to be done next?

A positive needs a diagnostic or confirmatory test to be done which is

an invasive test, it can be Chorionic Villus Sampling (CVS) in first trimester

and Amniocentesis in the second trimester.


Chorionic Villus SamplingIt is the method to examine the baby’s

chromosomes during the first trimester of pregnancy. Under ultrasound guidance, a needs is inserted through the abdomen to remove a small from the placenta and the

cells are examined for chromosomal abnormalities.


Amniocentesis

It is a procedure to extract amniotic fluid for chromosomal

analysis to diagnose Down’s syndrome during the second trimester is Amniocenteses.

Down’s Syndrome


Down’s SyndromeA thin needle is introduced into the

abdomen to extract a small amount of amniotic fluid from the

uterus while the procedure is monitored with ultrasound.


What is invasive test?As the name suggests it is an invasive procedure to extract

either a chorionic villi or amniotic fluid to study the foetal

chromosomes.


Are these procedures risky?No, these procedures are easy, takes only 5-10

minutes to perform and are done under ultrasound guidance, Normally, there is no risk to the mother or to the foetus but both CVS and Amniocentesis being invasive procedures, have a small risk of miscarriage

(1:150 and 1:300 respectively.)

Remember: Accuracy is 100% with culture & 98% DNA probe test

Obstet Gynecol. 2007 Sep;110(3):687-94.Obstet Gynecol. 2008 Mar;111(3):589-95.

Does negative ‘DUAL/Quadruple test’

means that my baby doesn’t have Down’s syndrome?

No, ‘DUAL/QUADUPLE test’ are only screening test and screening tests do not diagnose Down’s syndrome; rather, they

identify women who have an elevated risk of having a child with Down’s syndrome.

Screen Negative…means LOW RISKHowever, low risk does not mean NO risk

Should I get screening done for detecting MENTAL RETARDATION ?

This information is provided to you helps to take an informed choice to

rule out MENTAL RETARDATION whether to get NIFTY, ‘Dual or Quadruple test’ done or not.

Amniocentesis is confirmatory test

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down’s syndrome/ nipt or niftyis the bes/t sharda jain/amniocentesis

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