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SOCIAL IMPLICATIONS OF GENETIC PRENATAL SCREENING IN PREGNANCY.

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Presentation on theme: "SOCIAL IMPLICATIONS OF GENETIC PRENATAL SCREENING IN PREGNANCY."— Presentation transcript:

1 SOCIAL IMPLICATIONS OF GENETIC PRENATAL SCREENING IN PREGNANCY

2 Innovative Health Technologies Programme Projects funded in the area of genetics Pregnancy & Childbirth ä Definitions of Genetic Knowledge and Pre- Implantation Genetic Diagnosis ä Social & Ethnic Differences in attitudes & consent to prenatal testing ä The Technological Management of Childbirth - risk, empowerment & professional accountability ä Social Implications of One Stop First Trimester Prenatal Screening

3 Innovative Health Technologies Programme Projects funded in the area of genetics Other types of genetic screening ä The construction of risk estimates in a cancer genetics clinic ä Genetic screening for Susceptibility to Disease: The Case of Haemochromatosis

4 Projects On The Social Implications Of Genetics

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7 SETTINGSClinicsHospitalsHomes

8 ISSUES COMMON TO MOST OF THE PROJECTS IN GENETICS ä The management and meaning of risk ä The impact of technologies in the workplace ä The impact of technologies on women, patients and their families ä The process of explanation and decision making

9 Researching Innovative Technologies is involving ä Development of innovative social science methods ä Crossing disciplinary and professional domains ä Dialogue on the social negotiation of genetic information and choice

10 Social Implications of One Stop First Trimester Prenatal Screening ä Professor GA Lewando- Hundt ä Professor Jane Sandall ä Professor Bob Heyman ä Dr Kevin Spencer ä Dr Clare Williams ä Rachel Grellier ä Warwick University ä King’s College, London ä City University, London ä Barking, Havering & Redbridge NHS Trust ä King’s College, London ä Warwick University

11 Prenatal Screening for Trisomy 21 Conventional Second Trimester (15-18 weeks) Approach ä Maternal blood test to measure a combination of 2 to 4 biochemical markers in a batched process in a centralised lab. ä Patient specific risk reported to ANC 2 to 4 days later. 5-6% of women identified “At Risk” ä “At Risk” women brought back for counselling re. Invasive Diagnostic Test

12 Prenatal Screening for Trisomy 21 Conventional Second Trimester (15-18 weeks) Approach ä Amniocentesis performed - fluid sent away to Regional Reference Lab. ä 2 to 3 weeks later diagnosis reported to ANC ä Patient returns for further counselling. ä TOP if considered appropriate around 21 weeks -some 32 days after initial screen. ä DR 70% FPR 5% No of invasive procedures per case detected is 55

13 OSCAR - A One Stop Clinic for Assessment of Risk for fetal anomalies. Kevin Spencer Endocrine Unit,Clinical Biochemistry Dept., Harold Wood Hospital, Romford, U.K.

14 Developments & Innovations Leading to OSCAR ä Ultrasound markers of chromosomal anomalies - fetal nuchal translucency thickness at weeks.

15 Increased fetal nuchal translucency thickness in a case of T21 Head Upper limbs Lower limbs NT

16 Developments & Innovations Leading to OSCAR ä Ultrasound markers of chromosomal anomalies - fetal nuchal translucency thickness at weeks.  Biochemical markers of chromosomal anomalies - free  hCG & PAPP-A at weeks.

17 Developments & Innovations Leading to OSCAR ä Ultrasound markers of chromosomal anomalies - fetal nuchal translucency thickness at weeks.  Biochemical markers of chromosomal anomalies - free  hCG & PAPP-A at weeks. ä Development of new rapid assay technology for biochemical marker measurement.

18 Kryptor Analyser Nobel Prize winning chemistry ä Small bench top analyser - clinic based ä Rapid assay times (19 mins) ä Kinetic reading - leading to automatic rediluting of high samples within 4 minutes ä Precise - cv less than 3% between day ä Continuous sample access - stat capability ä Small sample (<50ul) and reagent (<150ul) volumes. ä User friendly

19 Developments & Innovations Leading to OSCAR ä Ultrasound markers of chromosomal anomalies - fetal nuchal translucency thickness at weeks.  Biochemical markers of chromosomal anomalies - free  hCG & PAPP-A at weeks. ä Development of new rapid assay technology for biochemical marker measurement. ä Predicted DR 90% for 5% FPR. No of invasive procedures per case detected is 30

20 OSCAR clinic flow Patient booked for a 13:00 appointment (15 minute intervals)

21 Professional Interactions OSCAR Midwives Support Workers Obstetricians Technologists Ultrasonographers

22 Prospective First Trimester Screening June ‘98 - May ‘99 ä Total births4397 ä Women offered screening4190 (95.3%) ä Women accepting4088 (97.6%) ä 88% of T21 cases detected & 95% of all Chromosomal anomalies over past 2 years Spencer et al (2000) BJO&G 107;1271

23 Screening options - time scales ä 2nd trimester biochemistry - results usually within 3 days, amniocentesis within 3 days, diagnostic test results 3- 4 weeks after screening. ä 1st trimester NT&Biochem - results within 1 hour, CVS within 2 days, diagnostic test results 7-10 days after screening.

24 Aim of study ä To explore and compare the risks and benefits of innovative and established models of genetic prenatal screening as defined, perceived and communicated by health professionals and pregnant women.

25 Research questions ä Do innovative prenatal screening methods for foetal anomalies impact differently on the social management of screening and testing ? ä What are the experiences of women of innovative and established genetic prenatal screening systems ? ä Do inter-professional roles, and relationships between professionals and clients, change ?

26 Research questions ä How do innovative and established prenatal screening systems affect women’s conceptions of self, and of the foetus ? ä How do they impact on the management of reproductive risk in the clinic and the home ?

27 Theoretical background ä Social context of reproduction and reproductive technologies ä Contrasting understandings of risk ä Sociology of the professional and expert groups

28 Methods ä Research will take place at two sites: one offering the innovative one stop approach, the other offers conventional second trimester prenatal screening. ä Multi-method approach ä Perspectives on clinic consultations at critical screening junctures with a sub-sample from health professionals and women.

29 Methods ä Focus groups with health professionals ä Survey of representative sample of women examining expectations about, and reflections on different screening processes.

30 Contribution to the IHT programme The study will offer insights into:- ä Participants’ broader response to the new emerging technology of prenatal screening; their views about its routinisation and notions of genetic responsibility. ä The impact of new screening technologies on, and the social management of pregnancy and interprofessional relationships, between obstetrics, midwifery and biomedicine.

31 Contribution to the IHT programme The study will offer insights into:- ä The social context of pregnancy, and perspectives on identity and the body. ä Understanding of complex probabilistic information and of risk.


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