DOWN SENDROMUNUN TESPİTİNDE İNVAZİV OLMAYAN PRENATAL TEST (NIPT) UYGULAMASININ ETİK VE HUKUKİ YÖNÜ
Abstract
Doğum öncesi genetik tarama ve tanı testi uygulamaları, doğmamış bir çocuktaki genetik bozuklukları tespit etmek için kullanılan işlemler olup, bu işlemle genetik bozukluğu olan bir çocuğa sahip olma riski araştırılarak elde edilen sonuçlar, ebeveynlerle prenatal dönemde paylaşılmaktadır. Günümüzde biyoteknolojik gelişmelerin hızı ile, girişimsel olmayan yeni bir prenatal tarama testi olarak NIPT, farklı genetik durumlara göre gebelere, engelli bir bebeğe sahip olunup olunamayacağına dair olasılığın sunulduğu bir test uygulaması olarak karşımıza çıkmaktadır. Henüz tanı testi olmayıp, ileri bir tarama testi olarak rutin tarama testleri arasında da sayılmayan bu uygulamanın endikasyonları ve kullanım yaygınlığı, Down sendromunun tespitinde başvurulmasının avantajları, zarar vermekten kaçınma, seçim, özerklik ve rıza, eşitlik, adalet ve kapsayıcılık etik ilkeleri bakımından NIPT uygulamasının değerlendirilmesi, girişimsel olmayan bir prenatal test olarak ilgili uygulamanın hukuki niteliğinin ortaya konulması, NIPT uygulamasını öneren hekimin hastasını aydınlatmasının önemi ve hukuki sorumluluğu, Genetik Hastalıklar Değerlendirme Merkezlerinde yapılması gereken aydınlatmanın içeriği ve özellikleri bu çalışma kapsamında ele alınmaya çalışılmıştır.
Keywords
The Ethical and Legal Aspects of Non-Invasive Prenatal Testing (NIPT) in the Detection of Down Syndrome
Abstract
The Committee of Ministers of the Council of Europe defines prenatal genetic screening as a test conducted on healthy individuals to determine whether there is a risk of passing a genetic disorder to their offspring, while prenatal diagnosis is defined as the detection of whether an embryo or fetus has a specific disease. These non-invasive tests, known as double, triple, and quadruple tests, are performed at different stages of pregnancy to provide insights into whether the fetus has chromosomal anomalies. These tests are not diagnostic but rather screening tests, relying on statistical foundations. Additionally, a new screening test has been introduced over the past decade. Non-Invasive Prenatal Testing (NIPT) is a test that presents various genetic conditions and the probability that the pregnant woman may have a child with a disability. Down syndrome is considered the most prominent condition associated with neurodevelopmental abnormalities, affecting short-term memory, learning difficulties, delays in motor skills, speech, and reading, or overall intellectual failure.
Compared to invasive prenatal tests, NIPT can be conducted very early, specifically after the fetus is 10 weeks old, and it determines whether the fetus has Down syndrome or another chromosomal disorder. To perform the test, a blood sample is taken from the mother. NIPT is noted for not causing miscarriages or posing a risk to the fetus, and it is recognized for its high sensitivity and specificity. The definitive diagnosis of chromosomal anomalies such as Down syndrome is currently made through genetic examination of fetal or placental tissue obtained via invasive procedures. Due to the risks associated with invasive procedures, NIPT is used to identify fetuses at high risk for chromosomal anomalies like Down syndrome, trisomy 13, and trisomy 18. However, NIPT is not a routine screening test due to its high cost, the requirement for advanced laboratory infrastructure, and the lack of necessary equipment in all institutions. Thus, it is recommended for use in cases with a high risk of chromosomal anomalies, such as advanced maternal age or a significant family history, to reduce the need for invasive procedures.
A study investigating current NIPT usage in Europe, Australia, and the United States found that the highest usage, over 75%, was in Belgium, while in the United States, despite the absence of a national consensus policy on NIPT usage, it is widely used. In most European countries offering NIPT to pregnant women, the usage rate is below 25%, while in the Netherlands, Austria, Italy, Spain, and most states in Australia and the United States, NIPT is used by 25-50% of women as a non-invasive prenatal screening test.
This study aims to highlight the indications and prevalence of NIPT applications, as described above, to determine whether these indications are clearly defined in guidelines to inform the recommending physician, and to identify the ethical issues of the application based on ethical principles of non-maleficence, autonomy, consent, equality, justice, and inclusivity. The legal nature of the relevant prenatal test application has also been evaluated in terms of the legal conditions of medical intervention. Given the increasing number of malpractice lawsuits filed by parents of children with Down syndrome against the attending physician, the importance of recommending such applications and appropriately informing patients about the differences between screening and diagnostic tests is evident.
Therefore, the study emphasizes the importance of the content of information provided about NIPT, the legal liability of the physician, and the significance of information and genetic counseling provided at Genetic Disorders Evaluation Centers. The study also addresses concerns and criticisms regarding the increase in voluntary abortions due to the widespread use of NIPT within the framework of maternal autonomy, potential eugenics related to Down syndrome, the importance of considering fetal benefits in addition to maternal benefits in NIPT counseling, social injustice in access due to the lack of state-funded financing for the application, the need to balance the rights of the fetus concerning human dignity with the pregnant woman's autonomy and right to decide about her future, and the necessity of improving the social and legal status of individuals with disabilities in society.
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