Mission Down’s Syndrome we are running Mission Down Syndrome and congenital heart defetcts detecion Program in pregnant mothers in antenatal period. Now we wish more Gynaecologists to join hands and extend this noble facility to larger section of INDIAN society .

1. Mission Down’s Syndrome
…Caring hearts, healing hands
What Pregnant
women should
know?
Dr. Sharda Jain
Dr Jyoti Agarwal

2. Over 400 ppts are available on
slideshare.net ***for use of public/Doctors
www.slideshare.net / Lifecarecentre

3. Mission
we are running
Mission Down Syndrome and
congenital heart defetcts detecion Program
in pregnant mothers in antenatal period.
Now we wish more Gynaecologists to join
hands and extend this noble facility to larger
section of INDIAN society .

4. OUR GOALS ARE

5. 1.Awareness among lady doctors , Gynaecologists , nurses and
other health care workers particularly Grassroot workers
2.Public awareness about Down Syndrome
3.Identification of high risk group if any and their pre natal
testing
4. Rehabilitation of Down Syndrome babies
5.Arranging surgeries for treatable congenital heart defects

6. They look cute when they smile
HIDDEN Misery of 3 generation

7. 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
Normal Female Chromosomes

8. Down Syndrome
Karyotype

9. What is Down’s Syndrome?
• The most common chromosomal
abnormality in new-borns and is the
commonest cause of severe learning
disabilities is children.
• Also called Trisomy 21.

10. An affected child will have
moderate to severe learning
disabilities,
low IQ +
Physical characteristics
Down’s Syndrome
…Caring hearts, healing hands

11. Down’s Syndrome
Appearance
flat face, slanting
eyes
and can have heart
defects as well as
gastrointestinal
problems.
…Caring hearts, healing hands

12. 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 timely surgery
LOW IQ cannot treated.

13. How serious is the mental
handicap/learning deficits in
Down’s syndrome?
…Caring hearts, healing hands

14. Mild to moderate with IQ of 45-48.
Children with Down’s syndrome learn to sit, walk,
play, trained in toilet and other activities but
somewow lag their peers without Down’s
Mental Retardation +
…Caring hearts, healing hands

15. Down’s Syndrome,s
Adulthood
After getting into adulthood they can
do the routine household work but
require care and attention from
elder members and caretakers
lifelong as they lack the required
skill for independent living.
…Caring hearts, healing hands

16. What is the usual incidence of
Down’s syndrome?
• Around 1 in every 660 births.
• A random event
• Extra copy of chromosome 21 increases
dramatically as women ages,
by the age of 35 years the risk of having a
Down’s syndrome increases to 1 in 356.
• At 40 -1in 105 , 46-1 in 20
1 in
Paediatr Perniat Epidemiol. 2003 Jan; 17(1):33-9.

17. Can 1 have Down’s syndrome
baby?
Yes
*it may affect any pregnancy.
• The incidence of Down’s syndrome rises with
increasing maternal age
• about 75% of the babies with Down’s syndrome
are born to younger women.
Caring hearts, healing hands

18. Can 1 have Down’s baby even if 1
don’t have any family history of
Down’s syndrome?
Yes
…Caring hearts, healing hands

19. Is it possible to test for Down’s
syndrome prenatally?
Yes
…Caring hearts, healing hands

20. PRENATAL SCREENING HISTORY

21. Screening tests are available both
in first and Second trimester.
…Caring hearts, healing hands

22. First Trimester Screening GOALS
ANEUPLOIDIES
VIABILITY
STRUCTURAL
DEFECTS

23. First Trimester marker for
Aneuploidy ( Blood + Scan)
Anatomy Review (Early Anomaly Scan)
Uterine Artery (Preeclampsia Screening)

24. What is screening test?
DUAL TESTS + with NT – NB ultrasound
scan of the foetus
is most commonly used test
to estimate the risk of
Down’s syndrome.

25. It is done between
11-13.6 weeks of gestation
Ultrasound (NT / NB) : - CRL 45-84 mm
Serum levels of b-hCG and PAPP-A
Screen positive rate -3 to 5%
85% detection rate(sensitivity)
Dual Test
(first trimester)

26. NT Scan
You Can not afford to be casual

27. What do you mean by NT Scan
11 – 13+6 weeks
(45-84 mm)

28. What is Nuchal Translucency ?
• Cardiac Dysfunction
• Extracellular Matrix
• Lymphatic
• Venous Congestion
• +/- Fetal Infection

29. What is the Ideal “ High Risk” Cut off?
1:150
1:250
1:300
lets leave it for the experts !

30. Other Markers and Screening ?
• Nasal Bone ??
• Fetal Cell in Maternal CirculationNIPT
• Integrated Screening

31. What is the Sensitivity / Accuracy of the
Various Screening Pregnancies available
TEST DR at FPR 3% OAPR 1:n
PAPPA + FREEβ hCG 68%
PAPPA + FREEβ hCG + NT 80% 29
PAPPA + FREEβ hCG + NT + NB 91% 26
Quadruple Test ( 2nd Trimester ) 64% 36
PAPPA + FREEβ hCG + NT +
Quadruple Test (Integrated)
91% 26
NIPT 99.9%

32. NT
Alone
NT +
NB
NT +
Bloods?
NT+NB+
DV+TR+
Bloods?

33. When you book too late
This is a biochemical test is done between
14 weeks 2 days and 20 weeks.
It has screen positive rate of 4-5%.
Detection rate 80% only(sensitivity).
***In Second trimester
Quadruple test
…Caring hearts, healing hands

34. Is given up by gynaecologists
as its accuracy is only 60%
***Triple test
…Caring hearts, healing hands

35. NIPT or NIFTY
is the best
Accuracy 99.9%
But Expensive – 25K158k
Fast replacing the need of
Amniocentesis & chorion villusBiopsy
If +  Amniocentesis
…Caring hearts, healing hands

36. What needs to be done
next?
Confirmatory tests :
Chorionic Villus Sampling (CVS)
in first trimester and
Amniocentesis in the
second trimester.
…Caring hearts, healing hands

37. Chorionic Villus Sampling
…Caring hearts, healing hands

38. Amniocentesis

39. Are these procedures risky?
No
miscarriage rate 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.

40. Does negative
‘DUAL/Quadruple test’
means that my baby doesn’t have Down’s
syndrome?
No
Screen Negative…means LOW RISK
However
Lowrisk doesnot mean NO risk

41. Should I get screening done for
detecting MENTAL RETARDATION ?
This information is provided to you helps
Pregnant patients to take an informed choice
to rule out MENTAL RETARDATION
whether to get or Not.
Remember NIFTY, ‘Dual or Quadruple test’ are
only screening test .
CVS / Amniocentesis are confirmatory test

42. OUR USP
*Star Training Centre of D.G.F. for Gynaecologist
*Home for all Advanced SURGERIES / All Office Procedures
*IVF

43. ADDRESS
11 Gagan Vihar, Near Karkari
Morh Flyover, Delhi - 51
CONTACT US
9650588339
011-22414049
WEBSITE :
www.drshardajain.com
www.lifecarecentre.in
www.lifecareivf.in
www.lifecareabs.in
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…..Caring hearts, healing hands
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Web.www.lifecareivf.in
Helpline : 9810081484
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