October - Down syndrome Awareness Month
Down syndrome
is a genetic disorder that causes mental retardation and abnormal physical
growth. Down syndrome occurs when an individual has a full or partial extra
copy of chromosome 21 (trisomy 21).
Down
syndrome increases risk for certain medical conditions such as congenital heart
defects, respiratory, hearing problems, childhood leukemia, and thyroid conditions.
It affects about 1 in 800 babies worldwide and in India every year more than
23,000 babies are born with Down syndrome.
October is observed as Down syndrome Awareness Month
globally. In order to understand the
intensity of the chromosomal disorder in India, Metropolis Healthcare Ltd, the Pathology Specialist, conducted a
comprehensive study on 38,081 prenatal screening samples processed in 2014.
Prenatal screening is necessary to reveal disorder or
conditions that affect the fetus and help improve outcome of pregnancy.
There
are two types of prenatal screening that are available; Noninvasive Methods
like Ultrasonography and Biochemical test like Dual marker test in the first
trimester (8 to 13.6 weeks gestation age), Triple marker test in the second
trimester (14 to 22.6 weeks),and Quadruple marker test in the third trimester (14
to 22.6 weeks gestation age). The other type of screening is Invasive
procedures like Amniocentesis and Chorionic villous sampling.
In prenatal Biochemical markers screening of over 38,081
samples, 6.13% of the total samples were at the risk of Down syndrome. That is
over 2334 samples were found positive for Downs Syndrome Risk.
The increasing
trend of late marriages and delayed first pregnancy that usually occurs between
the age group of 31-35 years increases the risk of having a baby born with the
syndrome.
Trisomy 21 Screening by Biochemical markers Test ( 1 year data)
Age group
(years)
|
||||||||
Test
Type
|
Biochemical
trisomy
21
statistical
risk
|
20
|
21-25
|
26-30
|
31-35
|
35-40
|
40
|
Total
pregnant
Women
|
Dual
Marker
|
Screen
NEGATIVE
(low
risk)
|
378
|
2917
|
5726
|
3310
|
791
|
43
|
13165
|
|
Screen
POSITIVE
(High risk)
|
12
|
132
|
312
|
397
|
263
|
52
|
1168
|
DM
Result
|
|
390
|
3049
|
6038
|
3707
|
1054
|
95
|
14333
|
Triple
Marker
|
Screen
NEGATIVE
(low risk)
|
518
|
3708
|
6645
|
4078
|
1026
|
36
|
16011
|
|
Screen
POSITIVE
(High risk)
|
4
|
42
|
159
|
252
|
298
|
83
|
838
|
TM
Result
|
|
522
|
3750
|
6804
|
4330
|
1324
|
119
|
16849
|
Quadruple marker
|
Screen
NEGATIVE
(low risk)
|
129
|
1248
|
2825
|
1821
|
523
|
25
|
6571
|
|
Screen
POSITIVE (High risk)
|
3
|
26
|
77
|
107
|
95
|
20
|
328
|
QM
Result
|
|
132
|
1274
|
2902
|
1928
|
618
|
45
|
6899
|
Total
Result
|
|
1044
|
8073
|
15744
|
9965
|
2996
|
259
|
38081
|
The study reveals a worrying trend in the age group of 31-35
years. Out of 9965 samples studied, 7.78% denotes the risk of Down’s syndrome
pregnancies. Highest number of Screened positive cases for Down's syndrome was
found in the age group of 35-40 years; out of 2996 samples studied, 21.89%
of the results were screened positive.
The ACOG (American College of
Obstetrician and Gynecologist) guideline 2007 recommends that every woman
regardless of Age needs to be screened for Downs Syndrome.
All the screened positive (High risk) cases by the
statistical calculation needs to be confirmed by Invasive procedures like
Amniocentesis in Second trimester and Chorionic Villous sampling in first
trimester.
Adding on the study Dr.
Deepak Sanghavi, HOD Clinical Chemistry and Accession, Metropolis Healthcare
Ltd, Mumbai said, “Down’s syndrome is a genetic condition where the child
has an extra copy of the 21st chromosome.
With the increase in the maternal
age, the likelihood of having a child affected with Down’s syndrome increases
considerably. A woman who is 40 years old at the time of conceiving a child is
at a 16 times greater risk of giving birth to a baby affected with Down’s
syndrome, as compared to a woman who conceives at the age of 25.”
ABOUT METROPOLIS
HEALTHCARE LTD.
At Metropolis, what we
believe is what we say and what we say is what we do. Being empathetic to our
customers and being committed to their needs is in our DNA. Metropolis has
grown to harness a culture that is open, synergistic, progressive and
scientific in nature.
We are the Pathology
Specialists delivering over 15 million tests a year, catering to more than 10,000
Laboratories, Hospitals, Nursing homes and 2,00,000 Consultants. With 33 years
of experience in delivering accurate reports, Metropolis has earned the
reputation of being India's most respected and only multinational chain of
diagnostic centres with presence in UAE, Sri Lanka, South Africa, Kenya,
Mauritius and Ghana.
Driven to make a difference, our wide network includes 125
state-of-art Laboratories across India with over 750 collection centres,
processing over 4500 varieties of tests and supported by an efficient team of
more than 3000 people. Equipped with cutting edge technology, innovative work
equipment, expansive logistics network and rigorous processes, Metropolis
ensures and delivers precision and accuracy in every single test; each time, every
time.
In the last 10 years, Metropolis has expanded into new
service lines like Clinical Trials, Hospital Lab Management, Home Health
Services, Preventive Health Check-ups and Corporate & Wellness Solutions.
Metropolis is at the forefront in adopting cutting edge technologies and
services that contribute new revenue streams and has positioned the company on
the pedestal it is today.
Today, we are one of
the few laboratories that has received the CAP (College of American
Pathologists), accreditation, the global gold standard in Laboratory
Accreditation. 12 of our laboratories in India has received the NABL
Accreditation (National Accreditation Board for testing and Calibration
Laboratories). In addition, the central laboratory in Mumbai also adheres to CLIA
(Clinical Laboratory Improvement Amendments) program and also follows the
guidelines laid by GCP and GLP. Our unit in South Africa is accredited by SANAS
(South African National Accreditation System is the only accreditation body
approved by South African Government).
Metropolis has been awarded numerous accolades like the ‘Best
Diagnostic Company of the year’ by Modern Medicare in 2006 and ‘Best Diagnostic
Company of the Year’ in 2010 by Frost & Sullivan. Metropolis was also
bestowed with ‘Best IT Integration in Customer Service Management’ at the
e-Health World Expo 2011. Metropolis was also honoured with the ‘Quality Brand
Award’ by NEHRDO in 2012. Metropolis won the ‘CMO Asia Award’ for Best IT
practices in Healthcare in 2012.
Metropolis Healthcare is
led by Ameera Shah, Managing Director & CEO. An International &
National Award winners, she was conferred with ‘The Young entrepreneur of the
Year Award’ by GE in 2006 and ‘The Young Achiever of the Year Award’ at the CMO
Asia Awards in 2011.
She was also the recipient of the prestigious ‘Young
Entrepreneur of the Year Award’ in 2011 organised by Entrepreneur India and
Bloomberg. She has been honoured with ‘Women Leadership award’ at the World
Women Leadership and Congress awards 2014.
Recently she has been chosen as one of the most respected leaders under
40 years by Economic Times & Spencer Stuart (2014).
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