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PAPERS: Jon Hyett, Marc Perdu, Gurleen Sharland, Rosalinde Snijders, and Kypros H Nicolaides Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study BMJ 1999; 318: 81-85 [Abstract] [Full text]

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Work load for Specialist fetal ehcocardiography

Jacob M Puliyel   (7 May 1999)

Informed consent for echocardiogram in young healthy adults

H Y Ong   (14 May 1999)

Work load for Specialist fetal ehcocardiography 7 May 1999
Jacob M Puliyel, Consultant Pediatrician St Stephen's Hospital Tis Hazari Delhi 110054 India Send response to journal: Re: Work load for Specialist fetal ehcocardiography	To The Editor British Medical Journal BMA House Tavistock Square London WC1H 9JR Dear Sir Jon Hyett et al (1) suggest using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation. If every pregnancy is tested for fetal nuchal translucency (an unspecified number had to have vaginal ultrasonography-a procedure not done in most centers - as visualization by transabdominal ultrasonography was poor), 40% of major cardiac defects would show up with a nuchal thickness above the 99th centile. 56% of major cardiac effects would be shown up if the cut off line for suspicion was the 95th centile. The authors suggest doing specialist fetal echocardiography for those with natal thickness above the 99th centile. It is their opinion that doing specialist fetal echocardiography in 1% (n = 315 of a total 31162 pregnancies in their study) of pregnant women would result in only a small increase in work load but that there may be insufficient facilities for doing this in 5% of the population of pregnant women ( who will have nuchal thickness above the 95th centile ).We feel that they have ignored another factor when making this calculation of workload. In their study they have excluded from analysis 1%(n=323) cases ,who on follow up after birth, had dysmorphic features suggestive of chromosomal anomalies. Ultrasonographers examining the fetus at 10-14 weeks would not have the benefit of such hindsight and would send a large number of these 323 for fetal echocardiography. Admittedly the yield of cardiac disease may be even higher in this population with chromosomal anomalies, but realistically we are looking to doing fetal echocadiography for 2% of all pregnant women. Ruchie Chowdhury MBBS Kishore Agrawal MBBS DCH Jacob M. Puliyel MD MRCP Department of Pediatrics St Stephen's Hospital Tis Hazari Delhi 110054 India Email : puliyel@vsnl.com Reference 1 Hyett JA, Perdu M, Sharland GK, Snijders RJM, Nicolaides KH. Using foetal nuchal translucency to screen for major congenital cardiac defect at 10 - 14 weeks of gestation : population based cohort study. BMJ 1999; 318: 81 - 85.
Informed consent for echocardiogram in young healthy adults 14 May 1999
H Y Ong Send response to journal: Re: Informed consent for echocardiogram in young healthy adults	We follow with interest the debate over the ethics of prenatal screening generated by the recent publication in the BMJ of prenatal diagnosis of congenital cardiac abnormalities(1). It is interesting to note that the use of control subjects in echocardiographic studies has not been subjected to the same debate, as these controls are often young asymptomatic adults working in the same department. Perusal of the available literature does not reveal the specific use of a separate consent for the controls. It is a general assumption that echocardiograms are unlikely to pick up any abnormalities in a young asymptomatic adult. However, this is not true. The prevalence of several common valvular and myocardial disorders are higher than one may imagine. 1 Mitral Valve Prolapse(2): 7 - 8% 2 Bicuspid aortic valve(3): 1% (post-mortem data) 3 Hypertrophic cardiomyopathy(4): 0.2% 4 Pulmonary stenosis(5): 0.17% The majority of these abnormalities are not life threatening, but a few may need medical intervention. In addition, there are other issues pertaining to confidentiality and potential difficulties concerning employment and medical insurance. We also have the perception that the risks of morbidity or mortality as being minimal in a young adult. There are ethical issues raised if the patient had not been fully consented as to the problems of taking part in a high yield diagnostic procedure, such as echocardiography. We propose that all healthy controls in clinical trials are asked to provide fully informed written consent and that the procedures for clinical follow-up are in place before the start of the study. Yours sincerely Dr H Y Ong Honorary Research SHO Dr C O'Dochartaigh Research Fellow Dr D P Nicholls Honorary Lecturer & Consultant Physician The Royal Group of Hospitals and Dental Hospital Health and Social Services Trust Northern Ireland BT12 6BA Reference List 1 Hyett J, Perdu M, Sharland G, Snijders R, Nicolaides KH. Using fetal nuchal translucency to screen for major congenital cardiac defects at 10-14 weeks of gestation: population based cohort study. BMJ 1999; 318(7176): 81-5. 2 Bryhn M, Persson S. The prevalence of mitral valve prolapse in healthy men and women in Sweden. An echocardiographic study. Acta Med Scan 1984; 215(2): 157-60. 3 Waller BF, Catellier MJ, Clark MA, Hawley DA, Pless JE. Cardiac pathology in 2007 consecutive forensic autopsies. Clin Cardiol 1992; 15(10): 760-5. 4 Maron BJ, Gardin JM, Flack JM, Gidding SS, Kurosaki TT, Bild DE. Prevalence of hypertrophic cardiomyopathy in a general population of young adults. Echocardiographic analysis of 4111 subjects in the CARDIA Study. Coronary Artery Risk Development in (Young) Adults. Circulation 1995; 92(4): 785-9. 5 Grech V. History, diagnosis, surgery and epidemiology of pulmonary stenosis in Malta. Cardiology in the Young. 1998; 8(3):337-43.