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Papers

SCREENING EXTENDED FAMILIES FOR GENETIC HEMOGLOBIN DISORDERS IN PAKISTAN

Authors: SUHAIB AHMED, MOHAMMED SALEEM, BERNADETTE MODELL AND MARY PETROU [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/Extended-NEJM2002.pdf”] ABSTRACT Background We have investigated a strategy for identifying and counseling carriers of recessively inherited disorders in developing countries where consanguineous marriage is common. In such communities, gene variants are trapped within extended families, so that an affected

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XmnI Gg-Polymorphism in Six Unrelated Pakistani Families With Inv/Del Gg(Agdb) db-Thalassemia

Authors: Suhaib Ahmed1* and Masood Anwar2 1 Department of Pathology, PNS Shifa, Karachi, Pakistan 2 Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, Pakistan [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/Delta-Beta-AJH2005.pdf”] The XmnI Gg-polymorphism (C–T polymorphism at position -158 to the Gg-globin gene) was studied in 13 individuals from six unrelated Pakistani families with

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TRANSABDOMINAL CHORIONIC VILLUS SAMPLING (CVS) FOR PRENATAL DIAGNOSIS OF GENETIC DISORDERS

Author: Suhaib Ahmed [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/CVS-JCPSP2006.pdf”] ABSTRACT Objective: To determine the safety and outcome of transabdominal Chorionic Villus Sampling (CVS) for prenatal diagnosis of genetic disorders. Design: Descriptive study. Place and Duration of Study: Department of Pathology, PNS Shifa, Karachi, from January 2003 to December 2004. Patients and Methods: A total

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Informed choice in genetic screening for thalassaemia during pregnancy: audit from a national confidential inquiry

Authors: Darlison, Mary Petrou, John Old, Mark Layton and Lysandros Varnavides Bernadette Modell, Rodney Harris, Beverley Lane, Maren Khan, Matthew [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/modell2000.pdf”] Abstract Objective National audit of informed choice in antenatal screening for thalassaemia. Design Audit from the UK Confidential Enquiry into Counselling for Genetic Disorders. Setting Thalassaemia module of

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Improved survival of thalassaemia major in the UK and relation to T2* cardiovascular magnetic resonance

Authors: Bernadette Modell*1, Maren Khan1, Matthew Darlison1, Mark A Westwood2,David Ingram1 and Dudley J Pennell2 [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/modell-2008.pdf”] Abstract Background: The UK Thalassaemia Register records births, deaths and selected clinical data of patients with thalassaemia who are resident in the UK. A study of survival and causes of death was undertaken

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Midwives’ perceptions of their role as facilitators of informed choice in antenatal screening

Authors: Shenaz Ahmed,BSc(Hons),PhD(Lecturer)a,n, LouiseD.Bryant,BSc(Hons),PhD(Lecturer)a, Phyllis Cole,RN,RM,DPSM(PublicHealthLeadforMaternity) [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/14-MICE-study-2012-Midwifery.pdf”] A b s t r a c t Objective: to explore midwives’perceptions oft heir role as facilitators of informed choice in antenatal screening. Design: qualitative. Setting: community midwives,Yorkshire and Humberregion,UK. Participants: community midwives offering antenatals creening(n¼15). Method: semi-structured interviews analysed using Thematic

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Attitudes towards prenatal testing and termination of pregnancy in British Pakistani parents and relatives of children with recessive conditions in the UK

Authors: S. Ahmed1*, M. Ahmed2, S. M. Sharif2, E. Sheridan2 and G. R. Taylor3 [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/13-NEAT-study-2012-Prenatal-diagnosis.pdf”] ABSTRACT Objective To compare British Pakistani parents’ and their relatives’ attitudes to prenatal testing (PND) and termination of pregnancy (TOP) for a range of conditions. Method A total of 222 British Pakistani participants: 117

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Is advice incompatible with autonomous informed choice? Womens perceptions of advice in the context of antenatal screening: a qualitative study

Authors: Shenaz Ahmed PhD,* Louise D. Bryant PhD,* Zahra Tizro PhD and Darren Shickle MD* [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/12-ESRC-Advice-paper-March-2012.pdf”] Abstract Background Patient autonomy in antenatal screening is a high priority for policy developers in many countries. Objective This paper presents womens understandings of how health professionals should facilitate informed screening choices with

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Decisions About Testing and Termination of Pregnancy for Different Fetal Conditions: A Qualitative Study of European White and Pakistani Mothers of Affected Children

Authors: Shenaz Ahmed & Jenny Hewison & Josephine M. Green & Howard S. Cuckle & Janet Hirst & Jim G. Thornton [gview file=”http://tfp.org.pk/wp-content/uploads/2016/07/09-SA-paper-in-J-of-Genetic-Counseling-2008.pdf”] Abstract The aim of this study is to explore reasons for and against prenatal testing and termination for a range of conditions in women from two different

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