Nucleic acid‐based non‐invasive prenatal diagnosis of genetic skin diseases: are we ready?

Ma, Yonghui; Gong, He; Wen, Yaran

doi:10.1111/exd.12156

Cited by 7 publications

(4 citation statements)

References 66 publications

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“…We can see that most of them were published in 2021 (13 out of 51 studies), likely due to the relatively young age of the investigation technique. Regarding the reviewed studies, 13 are described in the first section concerning the role of cffDNA in the non-invasive prenatal diagnosis of aneuploidies [ 4 , 5 , 6 , 7 , 8 , 9 , 10 , 11 , 12 , 13 , 14 , 15 , 16 ], 7 are described in the second section (CNV diseases) and the remaining 31 are in the third section concerning diseases with monogenic transmission [ 2 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 46 ].…”

Section: Resultsmentioning

confidence: 99%

“…Many of them tend to be chronic and have no definitive cure, significantly impacting the lives of patients. In the study by Ma et al published in 2013 [ 45 ], the authors discussed some ethical issues in NIPD for genetic skin diseases of various severities and in particular for the three diseases: Marie Unna hereditary hypotrichosis (MUHH), familial hidradenitis suppurativa (HS) and harlequin ichthyosis (HI). MUHH is an autosomal dominant form of genetic hair loss in which the patients are born with sparse or absent hair; after entering puberty, their hair will lose progressively.…”

Section: Resultsmentioning

confidence: 99%

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Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks

Gullo

Scaglione

Buzzaccarini

et al. 2022

JPM

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Cell-free fetal DNA (cffDNA) analysis is a non-invasive prenatal diagnostic test with a fundamental role for the screening of chromosomic or monogenic pathologies of the fetus. Its administration is performed by fetal DNA detection in the mother’s blood from the fourth week of gestation. Given the great interest regarding its validation as a diagnostic tool, the authors have set out to undertake a critical appraisal based on a wide-ranging narrative review of 45 total studies centered around such techniques. Both chromosomopathies and monogenic diseases were taken into account and systematically discussed and elucidated. Not surprisingly, cell-free fetal DNA analysis for screening purposes is already rather well-established. At the same time, considerable interest in its diagnostic value has emerged from this literature review, which recommends the elaboration of appropriate validation studies, as well as a broad discourse, involving all stakeholders, to address the legal and ethical complexities that such techniques entail.

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Section: Resultsmentioning

confidence: 99%

Section: Resultsmentioning

confidence: 99%

Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks

Gullo

Scaglione

Buzzaccarini

et al. 2022

JPM

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“…Fetoskop veya ultrasonografi eşliğinde yapılan fetal deri biyopsisinin ışık veya elektron mikroskobu ile değerlendirilmesi diğer bir invaziv prenatal tanı yöntemidir (6) . Yakın gelecekte, maternal sirkülasyonda bulunan serbest fetal DNA izolasyonu ile prenatal noninvazif HI tanısı 10. gebelik haftasından itibaren konulabilecektir (7) . nun femur uzunluğuna göre kısa kalması tespit edilebilir ilk sonografik bulgu olarak öne sürülmüştür (8) .…”

Section: Discussionunclassified

A Rare Case of Harlequin Ichthyosis with Isolated Oligohydramnios and Elevated Serum AFP Level

Uğurel¹,

Turhan²,

Aslan³

2016

IKSST

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Harlequin iktiyozis, konjenital iktiyozisin en ağır formu olup, doğumda 1: 300,000 sıklıkta görülen genetik geçişli nadir bir hastalıktır. Yenidoğan yoğun bakım koşullarında ve hastalığın tedavisinde ilerlemelere rağmen, çoğu olgu erken neonatal dönemde kaybedilir. Prenatal dönemde tanı konulamayan izole oligohidramnios ve maternal serum AFP düzeyi yüksekliği dışında bulgusu olmayan 22 yaşında sağlıklı çocuğu olan bir hastanın 36 hafta 5 günlük gebeliği akut fetal geç deselerasyonlar nedeniyle sezaryen ile doğurtularak yenidoğanda HI saptanmıştır.

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“…Concerns are therefore expressed about NIPT paving the road to a "quest for a perfect baby", progressively creating new forms of eugenics in society [68,69]. Empirical studies show that people are concerned about eugenic behaviours resulting from increased stigmatization and discrimination against disabled people following the large-scale implementation of NIPT [70].…”

Section: Discrimination Stigmatization and Eugenic Attitudesmentioning

confidence: 99%

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

Haidar

Dupras

Ravitsky

2018

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Droits d'auteur © H Haidar, C Dupras et V Ravitsky, 2016Ce document est protégé par la loi sur le droit d'auteur. L'utilisation des services d'Érudit (y compris la reproduction) est assujettie à sa politique d'utilisation que vous pouvez consulter en ligne.https://apropos.erudit.org/fr/usagers/politique-dutilisation/ Cet article est diffusé et préservé par Érudit.Érudit est un consortium interuniversitaire sans but lucratif composé de l'Université de Montréal, l'Université Laval et l'Université du Québec à Montréal. Il a pour mission la promotion et la valorisation de la recherche. Non-invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) from maternal blood has recently entered clinical practice in many countries, including Canada. This test can be performed early during pregnancy to detect Down syndrome and other conditions. While NIPT promises numerous benefits, it also has challenging ethical, legal and social implications (ELSI). This paper reviews concerns currently found in the literature on the ELSI of NIPT. We make four observations. First, NIPT seems to exacerbate some of the already existing concerns raised by other prenatal tests (amniocentesis and maternal serum screening) such as threats to women's reproductive autonomy and the potential for discrimination and stigmatization of disabled individuals and their families. This may be due to the likely upcoming large scale implementation and routinization of NIPT. Second, the distinction between NIPT as a screening test (as it is currently recommended) and as a diagnostic test (potentially in the future), has certain implications for the ELSI discussion. Third, we observed a progressive shift in the literature from initially including mostly conceptual analysis to an increasing number of empirical studies. This demonstrates the contribution of empirical bioethics approaches as the technology is being implemented into clinical use. Finally, we noted an increasing interest in equity and justice concerns regarding access to NIPT as it becomes more widely implemented. Mots clés Keywords Exonération DisclaimerLes évaluations des examinateurs externes sont prises en considération de façon sérieuse par les éditeurs et les auteurs dans la préparation des manuscrits pour publication. Toutefois, être nommé comme examinateur n'indique pas nécessairement l'approbation du manuscrit par cet examinateur. Les éditeurs de BioéthiqueOnline assument la responsabilité entière pour l'acceptation finale et la publication d'un article.Reviewer evaluations are given serious consideration by the editors and authors in the preparation of manuscripts for publication. Nonetheless, being named as a reviewer does not necessarily denote approval of a manuscript by the reviewer; the editors of BioéthiqueOnline take full responsibility for final acceptance and publication of an article.

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Nucleic acid‐based non‐invasive prenatal diagnosis of genetic skin diseases: are we ready?

Cited by 7 publications

References 66 publications

Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks

Cell-Free Fetal DNA and Non-Invasive Prenatal Diagnosis of Chromosomopathies and Pediatric Monogenic Diseases: A Critical Appraisal and Medicolegal Remarks

A Rare Case of Harlequin Ichthyosis with Isolated Oligohydramnios and Elevated Serum AFP Level

Non-Invasive Prenatal Testing: Review of Ethical, Legal and Social Implications

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