Genetic counseling and prenatal diagnosis in India — experience at Sir Ganga Ram Hospital

The fact that techniques of prenatal diagnosis are used in India and China to selectively eliminate females is widely known. It has been extensively reported in the international media and in scientific publications since the 1990s. The publication of the Census of India 2011 shows that the ratio of girls to boys below the age of 6 years continues to decline at an alarming rate. Following that publication, this topic has again received international attention. The aim of this article is to better inform the human genetics community of the magnitude of this practice and its consequences in India.In this overview, we examine the impact of prenatal technology on the sex ratio in India. We present facts and figures from the Census of India and other publications that show that the practice is wide spread throughout India, in urban and rural areas, among the rich and the poor, and among the educated and the illiterate. We also briefly discuss the possible causes, consequences, and solutions.Genet Med 16 6, 425–432.

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“…1 However, in this article, we shall concentrate on the misuse of prenatal technology, which has contributed to the skewed sex ratio in India.…”

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confidence: 99%

Impact of prenatal technologies on the sex ratio in India: an overview

Madan

Breuning

2014

Genetics in Medicine

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“…Despite some differences, similar findings have been reported in previous studies [5–7] indicating that the activities by the Ministry of Health and private sectors for the prevention of genetic disorders are well understood/accepted in the country. Research reports from the nine European countries, Georgia, Venezuela, and India showed that primary prevention measures have been implemented in these regions too [8–11]. However, the structure of the preventive strategies may vary by the region based on the population demands and financial sources.…”

Section: Discussionmentioning

confidence: 99%

Community Genetic Services in Iran

Barzanjeh

Behshid

Hosseini

et al. 2012

Genetics Research International

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The aim of the study was to report a description of the primary, secondary, and tertiary level services available for genetic disorders in Iran. For the purpose of this study, essential data were collected from every facility providing community genetic services in Tabriz city of Iran using a prestructured checklist. Technical information was filled in the predesigned forms using diagnostic records of each client/patient. Information was also gathered from community genetic services clients through a face-to-face interview at these facilities to assess the quality of services provided. Primary prevention measures were available in 80 percent of centres in the study population. Diagnostic techniques were fully available in the study area both in public and private sectors. Screening of congenital hypothyroidism and thalassemia has been successfully performed across the country by the Ministry of Health. Other screening programs have also been initiated by the country health authorities for neural tube defects, Down syndrome, and phenylketonuria. The high cost of genetic services at secondary and tertiary levels does not allow many people to get access to these services despite their needs. Governments will therefore need to allocate necessary resources to make the essential genetic services available for everyone needing these in the community.

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“…[1119202122] There have been few studies on the applications of molecular cytogenetics for prenatal diagnostics in India. [1223] Moreover, there have been no publications in this area following the printing of the aforementioned articles, as per the MEDLINE search till December, 2010. The aim of the present study was to evaluate the accuracy of the rapid FISH technique for the early detection of numerical aberrations of chromosomes 13, 21, 18, X, and Y in interphase nuclei of uncultured amniocytes/cytotrophoblast cells in 163 high-risk pregnancies in comparison with conventional cytogenetics.…”

Section: Introductionmentioning

confidence: 99%

Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects

Fauzdar¹,

Chowdhry²,

Makroo³

et al. 2013

Indian J Hum Genet

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BACKGROUND AND OBJECTIVE:Women with high-risk pregnancies are offered prenatal diagnosis through amniocentesis for cytogenetic analysis of fetal cells. The aim of this study was to evaluate the effectiveness of the rapid fluorescence in situ hybridization (FISH) technique for detecting numerical aberrations of chromosomes 13, 21, 18, X and Y in high-risk pregnancies in an Indian scenario.MATERIALS AND METHODS:A total of 163 samples were received for a FISH and/or a full karyotype for prenatal diagnosis from high-risk pregnancies. In 116 samples both conventional culture techniques for getting karyotype through G-banding techniques were applied in conjunction to FISH test using the AneuVysion kit (Abbott Molecular, Inc.), following standard recommended protocol to compare the both the techniques in our setup.RESULTS:Out of 116 patients, we got 96 normal for the five major chromosome abnormality and seven patients were found to be abnormal (04 trisomy 21, 02 monosomy X, and 01 trisomy 13) and all the FISH results correlated with conventional cytogenetics. To summarize the results of total 163 patients for the major chromosomal abnormalities analyzed by both/or cytogenetics and FISH there were 140 (86%) normal, 9 (6%) cases were abnormal and another 4 (2.5%) cases were suspicious mosaic and 10 (6%) cases of culture failure. The diagnostic detection rate with FISH in 116 patients was 97.5%. There were no false-positive and false-negative autosomal or sex chromosomal results, within our established criteria for reporting FISH signals.CONCLUSION:Rapid FISH is a reliable and prompt method for detecting numerical chromosomal aberrations and has now been implemented as a routine diagnostic procedure for detection of fetal aneuploidy in India.

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Genetic counseling and prenatal diagnosis in India — experience at Sir Ganga Ram Hospital

Abstract: Advanced molecular, cytogenetic and biochemical techniques have been a useful addition for genetic counseling and prenatal diagnosis in India.

Cited by 30 publications

References 24 publications

Impact of prenatal technologies on the sex ratio in India: an overview

Impact of prenatal technologies on the sex ratio in India: an overview

Community Genetic Services in Iran

Rapid-prenatal diagnosis through fluorescence in situ hybridization for preventing aneuploidy related birth defects

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