Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment

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Non-invasive prenatal diagnosis for aneuploidy: toward an integral ethical assessment.

The great promise of the pending introduction of non-invasive prenatal diagnosis (NIPD) for trisomy 21 (18 and 13) is that it enables one-step, early and safe testing for these abnormalities. The ethical debate so far has been limited to possible drawbacks of routine access to this type of testing: normalization of testing and abortion and adverse effects on autonomous decision-making. We addre...

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Evaluation of non-invasive prenatal testing (NIPT) for aneuploidy in an NHS setting: a reliable accurate prenatal non-invasive diagnosis (RAPID) protocol

BACKGROUND Non-invasive prenatal testing (NIPT) for aneuploidies is now available through commercial companies in many countries, including through private practice in the United Kingdom (UK). Thorough evaluation of service delivery requirements are needed to facilitate NIPT being offered more widely within state funded healthcare systems such as the UK's National Health Service (NHS). Successf...

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Invasive or non-invasive prenatal genetic diagnosis?

About 40 years ago, invasive prenatal diagnosis techniques were introduced in obstetrics. Initially, amniocentesis was performed followed by placentacentesis, fetoscopy, fetal blood sampling (FBS), and chorionic villus sampling (CVS). These procedures, while invading the uterine environment, have made it possible to proceed with the retrieval of biological tissue of fetal origin for analysis an...

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An Interesting Prenatal Diagnosis: Double Aneuploidy

Double aneuploidy, the existence of two chromosomal abnormalities in the same individual, is a rare condition. Early diagnosis of this condition is important to offer termination of pregnancy in genetic counselling. Cytogenetic analysis with amniocentesis and ultrasound examination is valuable for diagnosis of double aneuploidy. In this report we present a case with the karyotype of 48XXY+21 di...

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Aneuploidy screening by non‐invasive prenatal testing in twin pregnancy

OBJECTIVES To describe our experience with non-invasive prenatal testing (NIPT) in twin pregnancy. METHODS Two sets of maternal blood samples from twin pregnancies were analyzed at our laboratory using NIPT: 115 stored samples from pregnancies with known outcome (Clinical Study A) and 487 prospectively collected samples for which outcomes were requested from providers (Clinical Study B). NIPT...

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ژورنال

عنوان ژورنال: Human Reproduction

سال: 2011

ISSN: 0268-1161,1460-2350

DOI: 10.1093/humrep/der268