Noninvasive prenatal diagnosis of monogenic disorders

Alba, Marta Rodríguez de; Bustamante-Aragonés, Ana; Perlado, Sara; Trujillo-Tiebas, María José; Díaz-Recasens, J.; Plaza-Arranz, Javier; Ramos, Carmen

doi:10.1517/14712598.2012.674509

Cited by 11 publications

(10 citation statements)

References 67 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Health professionals may adopt different attitudes if they lack the skills to handle the emotional responses of patients who have received bad news. On the one hand, some carers believe that their responsibility is limited to addressing physical problems; in consequence, they will emphasise the development of skills related to the use of instruments developed in biomedicine, in order to provide a faster and more accurate diagnosis [1]. In monitoring the progress of a pregnancy control, such a carer's entire attention could be focused on confirming or ruling out the presence of biological problems in the foetus.…”

Section: Subcategory: Influence Of Technology Verbatimmentioning

confidence: 99%

“…Biotechnology offers novel, highly reliable instruments and techniques for identifying maternal risk factors, enabling the early detection of congenital malformations or defects of diverse types related to foetal formation and development [1]. However, despite this considerable progress, there is often a profound lack of interest in interpersonal communication.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Breaking bad news to antenatal patients with strategies to lessen the pain: a qualitative study

et al. 2018

View full text Add to dashboard Cite

Background: To consider the thoughts and actions of healthcare personnel in situations when an adverse prenatal diagnosis must be communicated, including appropriate strategies and skills to respond to information needs and to manage the emotional responses of patients. Methods: Descriptive qualitative study using non-participant observation and semi-structured interviews to analyse the discourses of physicians, midwives, nurses and nursing assistants who provide healthcare to obstetric patients. Results: There may be barriers to effective communication between healthcare personnel and patients, depending on the characteristics of the persons involved, the organisation of healthcare, biotechnological progress and cultural factors. Conclusions: The human quality of healthcare has deteriorated due to excessive workloads and to the growing role played by technology. In order to improve communication, more attention should be paid to human and spiritual dimensions, prioritising empathy, authenticity and non-judgmental listening. An appropriate model of clinical relationship should be based on shared decision making, clarifying the functions of the multidisciplinary team to alleviate a mother's suffering when a pregnancy is interrupted. To do so, protocols should be implemented to ensure the provision of comprehensive care, not only addressing biological issues but also providing psychosocial attention. Finally, training should be provided to healthcare staff to enhance their social skills and cultural competence. This study identifies potential improvements in the interventions made by healthcare personnel and in the organisation of the institution, concerning the attention provided to pregnant women when an adverse prenatal diagnosis must be communicated.

show abstract

Section: Subcategory: Influence Of Technology Verbatimmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Breaking bad news to antenatal patients with strategies to lessen the pain: a qualitative study

et al. 2018

View full text Add to dashboard Cite

show abstract

“…For disorders that are autosomal dominant with a known paternal mutation, NIPT is based on the detection or exclusion of the paternal mutation in the cf-DNA. This approach has been used in the diagnosis of Huntington’s disease [ 10 , 11 ]; myotonic dystrophy [ 12 ] and early onset primary dystonia I [ 13 ]. Two of these disorders are associated with trinucleotide repeat expansions that could be difficult to detect when parents share similar allele sizes or where the paternal allele is very large.…”

Section: Monogenic Disordersmentioning

confidence: 99%

“…Additional diagnostic testing can then be limited to only those at-risk cases. This practical approach has been used for a broad range of X-linked disorders such as hemophilia and Duchene muscular dystrophy [ 11 ]. A serious concern with NIPT applied to sex assessment is its use for non-medical purposes.…”

Section: Monogenic Disordersmentioning

confidence: 99%

Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects

Benn

2014

JCM

107

View full text Add to dashboard Cite

Recent advances in molecular genetic technologies have facilitated non-invasive prenatal testing (NIPT) through the analysis of cell-free fetal DNA in maternal plasma. NIPT can be used to identify monogenic disorders including the identification of autosomal recessive disorders where the maternally inherited mutation needs to be identified in the presence of an excess of maternal DNA that contains the same mutation. In the future, simultaneous screening for multiple monogenic disorders is anticipated. Several NIPT methods have been developed to screen for trisomy. These have been shown to be effective for fetal trisomy 21, 18 and 13. Although the testing has been extended to sex chromosome aneuploidy, robust estimates of the efficacy are not yet available and maternal mosaicism for gain or loss of an X-chromosome needs to be considered. Using methods based on the analysis of single nucleotide polymorphisms, diandric triploidy can be identified. NIPT is being developed to identify a number of microdeletion syndromes including α-globin gene deletion. NIPT is a profoundly important development in prenatal care that is substantially advancing the individual patient and public health benefits achieved through conventional prenatal screening and diagnosis.

show abstract

“…Nevertheless, the new emerging technologies are also opening the scope to maternally inherited disorders. 13 Since 1997, many studies have examined the accuracy of prenatal fetal sex determination using cffDNA, particularly for pregnancies at risk of an X-linked condition. To evaluate the use of cffDNA for prenatal determination (diagnosis) of fetal sex overall mean sensitivity was 96.6% [95% confidence interval (CI) = 95.2-97.7] and mean specificity was 98.9% (95% CI = 98.1-99.4).…”

Section: Historical Notesmentioning

confidence: 99%

Prenatal Diagnosis, Where and How: No Way Out?

Borruto¹,

Treisser²,

Comparetto³

2014

Donald School Journal of Ultrasound in Obstetrics and Gynecology

View full text Add to dashboard Cite

Prenatal diagnosis is the branch of medicine and in particular of obstetrics, that studies and applies the techniques that reveal the normality or the presence of diseases of various kinds, in the fetus. All the techniques of prenatal diagnosis are performed during pregnancy and may be invasive or less. Among the best known, amniocentesis is the most exploited technique nowadays to highlight the possible presence of chromosomal disorders in the fetus, but also infections and genetic diseases such as thalassemia, cystic fibrosis, hemophilia, spina bifida, albinism. Amniocentesis consists of taking an amniotic fluid sample which is then analyzed. Fetal cells suspended in the withdrawn liquid allow us to reconstruct the chromosome map of the fetus and then to confirm or not its normality. Genetic testing, however, are not able to recognize the physical or mental characteristics of the unborn child which are the result of the interaction between multiple genes and the environment. Amniotic fluid makes possible to perform other types of analysis, more or less complex, and it is also possible to store the amniotic stem cells. Similar to amniocentesis as a principle but different as a technique, is chorionic villus sampling (CVS), in which the cells can be put in culture to show their normality, but they are cells taken outside from the gestational chamber (chorionic villi). These are invasive techniques (the fluid is taken by puncture in both cases), but there are also noninvasive techniques. The development of ultrasound, for example, has made it possible to develop some highly sensitive diagnostic techniques, such as the first trimester combined test [bitest and nuchal translucency (NT)], the 'quadruple' test, and lately the SCA test in the second trimester, all based on the ultrasound measurement of anatomical and functional parameters of the fetus and on the results of blood tests. These are all screening tests, then they do not give a definite answer but they have a statistical value (very accurate) that can direct toward diagnostic tests. Recently, an extremely sensitive test for the most common aneuploidies and in particular Down syndrome has been proposed to be performed on maternal blood. This test (called fetal DNA testing) is based on the count of fragments of specific chromosomes (21 in the case of Down syndrome) in maternal blood. Although not belonging to diagnostic tests but to probabilistic ones, this test is absolutely the most accurate so far available, with values around 99.99% sensitivity and 0.2% false positives. Also ultrasound in the second trimester of pregnancy (also called morphological ultrasound) that can detect any malformation or fetal abnormality and fetal echocardiography, which analyzes sonographically the fetal heart not only anatomically but also from the dynamic-functional point of view, may be considered methods of prenatal diagnosis. This technique cannot identify genetic diseases.

show abstract

Noninvasive prenatal diagnosis of monogenic disorders

Cited by 11 publications

References 67 publications

Breaking bad news to antenatal patients with strategies to lessen the pain: a qualitative study

Breaking bad news to antenatal patients with strategies to lessen the pain: a qualitative study

Non-Invasive Prenatal Testing Using Cell Free DNA in Maternal Plasma: Recent Developments and Future Prospects

Prenatal Diagnosis, Where and How: No Way Out?

Contact Info

Product

Resources

About