Down Syndrome in India—Diagnosis, Screening, and Prenatal Diagnosis

Verma, Ishwar C.; Lall, Meena; Puri, Ratna Dua

doi:10.1016/j.cll.2012.04.010

Cited by 15 publications

(15 citation statements)

References 61 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…For example, in India only one in every 1,150 live births is born with Down syndrome, as opposed to the one in 732 in the US. 123 This is partially due to the tendency of women in LMICs to have children younger in life. In India, the percentage of mothers who are greater than 35 years old at the time of delivery is only 2%–5%, 123 in contrast to 8.3% (as of 2006) in the US.…”

Section: Implementation In Lmicsmentioning

confidence: 99%

Non-invasive prenatal testing: a review of international implementation and challenges

Allyse

Minear

Berson

et al. 2015

IJWH

297

271

View full text Add to dashboard Cite

Noninvasive prenatal genetic testing (NIPT) is an advance in the detection of fetal chromosomal aneuploidies that analyzes cell-free fetal DNA in the blood of a pregnant woman. Since its introduction to clinical practice in Hong Kong in 2011, NIPT has quickly spread across the globe. While many professional societies currently recommend that NIPT be used as a screening method, not a diagnostic test, its high sensitivity (true positive rate) and specificity (true negative rate) make it an attractive alternative to the serum screens and invasive tests currently in use. Professional societies also recommend that NIPT be accompanied by genetic counseling so that families can make informed reproductive choices. If NIPT becomes more widely adopted, States will have to implement regulation and oversight to ensure it fits into existing legal frameworks, with particular attention to returning fetal sex information in areas where sex-based abortions are prevalent. Although there are additional challenges for NIPT uptake in the developing world, including the lack of health care professionals and infrastructure, the use of NIPT in low-resource settings could potentially reduce the need for skilled clinicians who perform invasive testing. Future advances in NIPT technology promise to expand the range of conditions that can be detected, including single gene disorders. With these advances come questions of how to handle incidental findings and variants of unknown significance. Moving forward, it is essential that all stakeholders have a voice in crafting policies to ensure the ethical and equitable use of NIPT across the world.

show abstract

Section: Implementation In Lmicsmentioning

confidence: 99%

Non-invasive prenatal testing: a review of international implementation and challenges

Allyse

Minear

Berson

et al. 2015

IJWH

297

271

View full text Add to dashboard Cite

show abstract

“…A large number of markers are tested in the blood, while the commonest are the combined first trimester test involving estimation of pregnancy-associated plasma protein A (PAPP-A), free b-human chorionic gonadotrophin (b-hCG), and nuchal translucency (obtained by ultrasound studies). During the second trimester there is the triple test [free b-hCG, a-fetoprotein (AFP), unconjugated estriol], which becomes the quadruple test by adding an assay of dimeric inhibin [32,33,34]. Newer markers are being researched and described to improve the performance of the screening tests.…”

Section: Screening For Chromosomal Diseasementioning

confidence: 99%

“…CVS and amniocentesis are invasive and expensive, but are highly accurate with high detection rate and low false-positive rate. The detection rate for Down syndrome using various screening strategies is set out in Table 6 [32]. Though first trimester screening is the preferred option, second trimester screening is of paramount importance in developing countries, as women book late in gestation for obstetrical care.…”

Section: Screening For Chromosomal Diseasementioning

confidence: 99%

Global burden of genetic disease and the role of genetic screening

Verma

Puri

2015

Seminars in Fetal and Neonatal Medicine

View full text Add to dashboard Cite

“…However, the rate of mortality due to birth defects has remained the same. It has been estimated that almost half a million infants were born with malformations, with more than 20,000 reported cases of Down syndrome [24,25]. The most common malformations reported in several multi-centric studies were musculoskeletal disorders as well as neurological and neural tube defects [26,27,28,29].…”

Section: Genetic Disease Burden In the Indian Populationmentioning

confidence: 99%

Perspectives on Translational Genomics and Public Health in India

Chakrabarty

Kabekkodu

Brand

et al. 2015

Public Health Genomics

View full text Add to dashboard Cite

It is now recognized worldwide that anticipation and prevention of diseases have significant advantages for the health and healthy ageing of the population. Early recognition of the disease in a vulnerable population such as in children aged <5 years and adults aged >60 years enhances our preparedness for any eventualities and future burden of the diseases to society. It is also recognized that current public health practices alone cannot bring about the desired outcome. When tackling public health-related issues, such problems must be recognized and state-of-the-art principles and innovations from genomic sciences, information technologies, and medical specialties must be encompassed and embraced. These will enhance strategies for preparedness and provide us with a better understanding of how to identify, manage, and control disease burdens. The ever expanding landscape of genomics research also includes experimental and computational approaches for effectively utilizing DNA sequence information. From these perspectives, the intricacies of Mendelian single gene disorders are the least challenging compared to intricacies of multi-dimensional host factors for infectious diseases or complex disorders such as cancer. The concepts of public health in India are on firm footing; however, integration of contemporary advances to implement public health principles into practice has neither been attempted nor impacted on disease burden or our preparedness to prevent eventualities. At the same time, translational genomics is gradually paving the way for personalized medicine. Principles of personalized medicine remain to be fully understood and practiced despite the pharmacogenomics-based future of drug development, and treatment has not been as exciting as the advances in genomics we are witnessing today. The relevance, importance, and translational impediments of these advances will be discussed.

show abstract

Down Syndrome in India—Diagnosis, Screening, and Prenatal Diagnosis

Cited by 15 publications

References 61 publications

Non-invasive prenatal testing: a review of international implementation and challenges

Non-invasive prenatal testing: a review of international implementation and challenges

Global burden of genetic disease and the role of genetic screening

Perspectives on Translational Genomics and Public Health in India

Contact Info

Product

Resources

About