Literature DB >> 18439108

Carrier screening for beta-thalassemia during pregnancy in India: a 7-year evaluation.

Roshan Colah1, Reema Surve, Marukh Wadia, Prakash Solanki, Pramod Mayekar, Mariamma Thomas, Ajit Gorakshakar, Adi Dastur, Dipika Mohanty.   

Abstract

AIM: Premarital screening for beta-thalassemia is not widely acceptable in India; hence, we evaluated the effectiveness of antenatal screening and counseling over 7 years.
METHODS: 61,935 pregnant women were screened using the single-tube osmotic fragility test during their first antenatal visit. Individuals who were positive were investigated further for diagnosis of beta-thalassemia and other abnormal hemoglobins. Spouses of carrier women were tested whenever available. Couples at risk were given the option of prenatal diagnosis.
RESULTS: Only 19% of the women registered at the antenatal clinic in the first trimester of pregnancy, and 14% of the women were positive per the osmotic fragility test; 1020 beta-thalassemia heterozygotes and 213 women with other hemoglobinopathies were identified, majority being in the second and third trimesters. Seven hundred and thirteen (69%) of their husbands could be tested, and 37 couples at risk were identified. Only 15 couples had a prenatal diagnosis done. Four couples with affected fetuses opted for termination of pregnancy. The remaining couples either did not respond after counseling or the pregnancies were advanced for prenatal intervention.
CONCLUSION: This first large study shows that antenatal screening is acceptable in India; however, awareness generation is still a primary requisite to make women register early at antenatal clinics and bring their spouses for screening when required.

Entities:  

Mesh:

Year:  2008        PMID: 18439108     DOI: 10.1089/gte.2007.0066

Source DB:  PubMed          Journal:  Genet Test        ISSN: 1090-6576


  11 in total

1.  Prenatal diagnosis of LAD-I on cord blood by flowcytometry.

Authors:  Manisha Rajan Madkaikar; Maya Gupta; Meghana Rao; Kanjaksha Ghosh
Journal:  Indian J Pediatr       Date:  2012-04-04       Impact factor: 1.967

Review 2.  Carrier screening for beta-thalassaemia: a review of international practice.

Authors:  Nicole E Cousens; Clara L Gaff; Sylvia A Metcalfe; Martin B Delatycki
Journal:  Eur J Hum Genet       Date:  2010-06-23       Impact factor: 4.246

3.  Prenatal Diagnosis of HbE-β-Thalassemia: Experience of a Center in Western India.

Authors:  Roshan Colah; Anita Nadkarni; Ajit Gorakshakar; Pratibha Sawant; Khushnooma Italia; Dipti Upadhye; Harshali Gaikwad; Kanjaksha Ghosh
Journal:  Indian J Hematol Blood Transfus       Date:  2017-09-04       Impact factor: 0.900

4.  Antenatal screening for identification of couples for prenatal diagnosis of severe hemoglobinopathies in surat, South gujarat.

Authors:  Dipal S Bhukhanvala; Smita M Sorathiya; Pratibha Sawant; Roshan Colah; Kanjaksha Ghosh; Snehalata C Gupte
Journal:  J Obstet Gynaecol India       Date:  2012-11-02

5.  Frequency of β-thalassemia trait and other hemoglobinopathies in northern and western India.

Authors:  Nishi Madan; Satendra Sharma; S K Sood; Roshan Colah; Late H M Bhatia
Journal:  Indian J Hum Genet       Date:  2010-01

6.  Carrier Screening for β Thalassemia in Pregnant Indian Women: Experience at a Single Center in Madhya Pradesh.

Authors:  Asha Baxi; Kaushal Manila; Pooja Kadhi; Baxi Heena
Journal:  Indian J Hematol Blood Transfus       Date:  2012-06-22       Impact factor: 0.900

7.  Haemoglobinopathies in eastern Indian states: a demographic evaluation.

Authors:  Rachana Nagar; Sujata Sinha; Rajiva Raman
Journal:  J Community Genet       Date:  2014-07-25

Review 8.  Invasive & non-invasive approaches for prenatal diagnosis of haemoglobinopathies: experiences from India.

Authors:  R B Colah; A C Gorakshakar; A H Nadkarni
Journal:  Indian J Med Res       Date:  2011-10       Impact factor: 2.375

Review 9.  Past, present & future scenario of thalassaemic care & control in India.

Authors:  Ishwar C Verma; Renu Saxena; Sudha Kohli
Journal:  Indian J Med Res       Date:  2011-10       Impact factor: 2.375

10.  Medical genetics and genomic medicine in India: current status and opportunities ahead.

Authors:  Shagun Aggarwal; Shubha R Phadke
Journal:  Mol Genet Genomic Med       Date:  2015-05       Impact factor: 2.183

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