'Normal' nuchal translucency: a justification to refrain from detailed scan? Analysis of 6858 cases with special reference to ethical aspects.

OBJECTIVE: To assess the prevalence and detection rate of major anomalies (MAs) by applying first trimester anomaly scan (FTAS) including first trimester fetal echocardiography (FTFE) to all fetuses and discuss ethical implications. METHODS: The study group included 6879 consecutive fetuses with known outcome of pregnancy (follow-up: 98%), 6565 with 'normal' nuchal translucency (NT) (≤ P95), 314 with 'increased' NT (> P95). All fetuses received FTAS/FTFE. As MAs with the potential of being detected at FTAS/FTFE, we defined anomalies present at conception or developed during first trimester. RESULTS: Prevalence of MAs in fetuses with 'normal' NT reached 1.7%. Although 29.8% of chromosomal abnormalities were found in the group of 'normal' NT, 77% of MAs accompanied by a normal karyotype were found in this group. In fetuses with 'normal' NT and MA, diagnosis was made prenatally in 87.4% (FTAS/FTFE: 58.6%). CONCLUSION: A relevant number of MA is present in fetuses with 'normal' NT. More than half will be detected by FTAS/FTFE. As consequence, one should discuss a concept in which also in fetuses with 'normal' NT, FTAS/FTFE should be offered. This concept can also be justified from an ethical point of view, which focuses on the principles of nonmaleficence, justice and respect for autonomy of the pregnant woman.

Is the non-respect of ethical principles by health professionals during first-trimester sonographic Down syndrome screening damaging to patient autonomy?

OBJECTIVES: To evaluate the understanding of health professionals involved in first-trimester ultrasound screening of the ethical stakes involved by addressing three questions regarding: how much these professionals know about Down syndrome screening by nuchal translucency thickness measurement; their personal opinion with respect to this screening test; and their attitude with respect to their patients, in order to answer the question: 'Are ethical principles respected when women are proposed ultrasound screening during the first trimester of pregnancy?' METHODS: We studied the medical population in the east part of France by sending a questionnaire to each of 460 medical correspondents. This questionnaire attempted to evaluate the respondent's level of medical knowledge, their personal opinion with respect to first-trimester screening and their attitude towards their patients. We adapted the three-dimensional diagram designed by Marteau et al. to develop a measure of informed choice regarding screening. Only health professionals who were relatively well informed and adopted an autonomy-oriented approach were considered to be in a position to obtain true consent from their patients, respecting ethical principles in terms of competence and the autonomy of patients. RESULTS: We received 276 (60%) responses to the questionnaire. Only 31.9% of health professionals had an approach that facilitated obtaining true consent from their patients and respected the ethical principles of competence and patient autonomy; 46% were in favor of the screening test and adopted an autonomy-oriented approach but were poorly informed; and 15.4% had a directive-authoritarian approach combined with poor knowledge. Regression analysis showed that two independent factors (speciality (P = 0.031) and location of practice (P = 0.034)) affected the level of medical knowledge, and two independent factors (location of practice (P = 0.034) and the type of medical practice i.e. public or private (P < 0.05)) affected the opinion of health professionals about the screening test. Two independent factors (speciality (P < 0.001) and the age of the health professional (P = 0.02)) affected the attitudes of health professionals towards their patients. CONCLUSION: The answer to the question 'Are ethical principles respected when women are proposed ultrasound screening during the first trimester of pregnancy?' is clearly 'No'. Major effort is required to ensure that the decisions made by patients are based on a possibility of true choice.

Consideraciones éticas del uso de la ultrasonografía 11-14 semanas como tamizaje de aneuploidías en la población Chilena / Nuchal translucency thickness screening for aneuploidies in the Chilean population: ethical considerations

El examen ultrasonográfico entre las 11-14 semanas de gestación para pesquisa de aneuploidías en el feto se está realizando sistemáticamente en muchos centros asistenciales de nuestro país. Si bien la utilidad diagnóstica de este examen está ampliamente validada, surgen dudas sobre sus reales beneficios y los potenciales riesgos de este método, utilizado como tamizaje, en nuestra población. Esta presentación tiene como objetivo hacer una reflexión sobre esos riesgos y beneficios. Se discuten la utilización de este procedimiento sin un adecuado consentimiento informado, y las implicancias que tiene la instauración rutinaria de este método en el control obstétrico de nuestra población, especialmente al considerar las condiciones en las que en muchos centros se realiza este examen.

The ultrasound screening for aneuploidies between the 11 and 14 weeks of gestation is systematically performed in many centers of our country. Although the usefulness of this diagnostic test is well known, concern has been raised regarding its potential risks, when used as a screening method. The aim of this article is to analyze the risk and benefits of this practice in our population, considering the frequent lack of an informed consent and how is this procedure performed in several medical centers in our country.

Ethics is an essential dimension of first-trimester risk assessment for trisomy 21.

We identify the clinical implications of the ethics of informed consent for risk assessment for trisomy 21. Based on the ethics of informed consent, we argue that routinely offering first-trimester risk assessment in centers qualified to provide it is ethically obligatory. We describe how pregnant women can be expected to respond to this offer. We then argue that routinely withholding the results of first-trimester risk assessment is ethically unjustified. The ethics of informed consent is an essential dimension of first-trimester risk assessment for trisomy 21.

Clinical implications of the ethics of informed consent for first-trimester risk assessment for trisomy 21.

OBJECTIVE: We identify the clinical implications of the ethics of informed consent for risk assessment for trisomy 21. FINDING: Based on the ethics of informed consent, we find that routinely offering first-trimester risk assessment in centers qualified to provide it is ethically obligatory, and routinely withholding the results of first-trimester risk assessment is ethically unjustified. CONCLUSION: The ethics of informed consent is an essential dimension of first-trimester risk assessment for trisomy 21.

Midwives' attitudes to and knowledge about a newly introduced foetal screening method.

A number of screening procedures are offered by midwives during pregnancy and the number is increasing rapidly. The measurement of nuchal translucency is a fairly new ultrasound method for antenatal screening, primarily for Down syndrome. The results give a better risk calculation than maternal age alone and can mean a decrease in the number of invasive procedures needed to identify this syndrome prenatally. The aim of this study was to gain insight into the midwives' point of view concerning the introduction of the method in two different hospitals. In one hospital it had been introduced as part of a research project while in the other it had been integrated as an offer in the antenatal care programme. A questionnaire was sent to the 80 midwives working in the antenatal clinics serving these two hospitals. A total of 79% of the questionnaires were answered. The results indicate that in both districts, the similarities are greater than the differences with regard to the midwives' education, knowledge and their own opinions of their ability to inform pregnant women about the method. Although most of the respondents were positive to it, a number of midwives felt that, in general, information about foetal diagnosis was a difficult part of their work, mentioning both ethical and practical aspects. This highlights the need for continuing education, standardized policy and an ongoing ethical debate.