Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

Fassihi, Hiva; Eady, R.A.J.; Mellerio, Jemima E.; Ashton, G H S; Dopping-Hepenstal, P J C; Denyer, Jacqueline; Nicolaides, Kypros H.; Rodeck, Charles H.; McGrath, John A.

doi:10.1111/j.1365-2133.2005.07012.x

Cited by 91 publications

(49 citation statements)

References 60 publications

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“…In the near future, it is hoped that much earlier prenatal diagnosis by completely noninvasive analysis of DNA from fetal cells in maternal circulation [Uitto et al, 2003] and preimplantation genetic diagnosis [Fassihi et al, 2006;Wells and Delhantry, 2001] will be available for HI.…”

Section: Prenatal Diagnosis Of Harlequin Ichthyosismentioning

confidence: 99%

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

2010

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Mutations in ABCA12 have been described in autosomal recessive congenital ichthyoses (ARCI) including harlequin ichthyosis (HI), congenital ichthyosiform erythroderma (CIE), and lamellar ichthyosis (LI). HI shows the most severe phenotype. CIE and LI are clinically characterized by fine, whitish scales on a background of erythematous skin, and large, thick, dark scales over the entire body without serious background erythroderma, respectively. To date, a total of 56 ABCA12 mutations have been reported in 66 ARCI families including 48 HI, 10 LI, and 8 CIE families of African, European, Pakistani/Indian, and Japanese origin (online database: http://www.derm-hokudai.jp/ABCA12/). A total of 62.5% of reported ABCA12 mutations are expected to lead to truncated proteins. Most mutations in HI are truncation mutations and homozygous or compound heterozygous truncation mutations always results in HI phenotype. In CIE families, at least one mutation on each allele is typically a missense mutation. Combinations of missense mutations in the first ATPbinding cassette of ABCA12 underlie the LI phenotype. ABCA12 is a keratinocyte lipid transporter associated with lipid transport in lamellar granules, and loss of ABCA12 function leads to a defective lipid barrier in the stratum corneum, resulting in an ichthyotic phenotype. Recent work using mouse models confirmed ABCA12 roles in skin barrier formation.

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Section: Prenatal Diagnosis Of Harlequin Ichthyosismentioning

confidence: 99%

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

2010

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“…Nessa doença, além do estudo ultraestrutural, é usado também método imuno-histoquímico para análise da atividade da tirosinase. 1 A biópsia de pele fetal pode ser realizada a partir da 15 a semana de gestação, embora, no caso das ictioses, seja preferível realizá-la a partir da 19 a semana, uma vez que as anormalidades ultra-estruturais estão frequënte-mente ausentes antes dessa idade gestacional. 5 O risco de perda fetal, na maior série relatada na literatura (n = 191), foi de 1,05%, e, em cerca de 3% dos casos, houve queixa de perda de líquido amniótico, que, à exceção de um caso, cessou espontaneamente.…”

Section: Biópsia De Pele Fetalunclassified

Diagnóstico pré-natal das genodermatoses

Sampaio

Oliveira

Miguelez

2007

An. Bras. Dermatol.

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Reumo: O diagnóstico pré-natal está indicado para algumas genodermatoses graves, como a epidermó-lise bolhosa distrófica recessiva e a epidermólise bolhosa juncional. A biópsia de pele fetal foi introduzida em 1980, mas não pode ser realizada antes da 15 a semana de gestação. A análise do DNA fetal é método preciso e pode ser realizado mais precocemente na gestação. No entanto, deve-se conhecer a base molecular da genodermatose, e é essencial determinar a mutação e/ou marcadores informativos nas famílias com criança previamente afetada. O DNA fetal pode ser obtido pela biópsia da vilosidade coriônica ou amniocentese. O diagnóstico genético pré-implantação tem surgido como alternativa que dispensa a interrupção da gestação. Essa técnica, que envolve fertilização in vitro e teste genético do embrião. vem sendo realizada para genodermatoses em poucos centros de referência. A ultra-sonografia é exame não invasivo, mas tem uso limitado no diagnóstico pré-natal de genodermatoses. A ultrasonografia tridimensional geralmente estabelece o diagnóstico tardiamente na gestação, e há apenas relatos anedóticos de diagnóstico pré-natal de genodermatoses usando esse método. Palavras-chave: Amniocentese; Amostra da vilosidade coriônica; Diagnóstico pré-implantação; Diagnóstico pré-natal; Doenças genéticas inatas; Ultra-som

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“…Although the question what should be considered a severe phenotype for which prenatal diagnosis should be performed is universal and true to all genetic diseases, it seems to be more problematic when relating to skin diseases [72]. Although some genodermatoses are incompatible with life and lead to significant morbidity, such as Harlequin ichthyosis and some forms of epidermolysis bullosa, many other genodermatoses can result in cosmetic problems, with no effect on life expectancy.…”

Section: Ethical Considerationsmentioning

confidence: 99%

“…The development of PGD further complicates the ethical intricacy [73,74]. It is believed that since there are no clear guidelines, each case should be carefully considered individually [72].…”

Section: Ethical Considerationsmentioning

confidence: 99%

Intrauterine Diagnosis of Genodermatoses

Ramot

2013

Curr Derm Rep

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The progress of molecular genetics led to a revolution in prenatal diagnosis of inherited diseases, which also had affected the dermatology field profoundly. New molecular techniques have replaced fetal skin biopsies, which were previously used. Nowadays, we are standing on the brink of great changes, with the advent of noninvasive assays based on fetal cells and fetal DNA residing in the maternal blood. This review is aimed to give the dermatologist a current overview of the available methods for prenatal diagnosis, with an emphasis on genodermatoses.

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Prenatal diagnosis for severe inherited skin disorders: 25 years' experience

Cited by 91 publications

References 60 publications

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

ABCA12 mutations and autosomal recessive congenital ichthyosis: A review of genotype/phenotype correlations and of pathogenetic conceptsa

Diagnóstico pré-natal das genodermatoses

Intrauterine Diagnosis of Genodermatoses

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