Antenatal diagnosis of genodermatoses

Esterly, Nancy B.; Elias, Sherman

doi:10.1016/s0190-9622(83)70075-7

Cited by 14 publications

(3 citation statements)

References 24 publications

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“…Antenatal diagnosis can be performed by either amniocentesis between the 16th and 18th weeks of pregnancy [20] or trophoblast needle biopsy between the 6th and 8th weeks of pregnancy [21].…”

Section: Discussionmentioning

confidence: 99%

Fabry’s Disease: Heterozygous Form of Different Expression in Two Monozygous Twin Sisters

Marguery¹,

Giordano²,

Parant³

et al. 1993

Dermatology

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A 26-year-old woman presented widespread angiokeratomas predominantly in a swimsuit distribution pattern associated with acroparesthesia in all four limbs. The tentative diagnosis of Fabry’s disease (FD) was confirmed by optical and electron-microscopic findings and by appropriate biochemical testing. The work-up showed ocular and renal manifestations of the disease. The monozygous twin sister of the patient was asymptomatic although she was shown to be heterozygous for the enzymatic defect. These 2 cases illustrate the concept of extreme lyonization which can explain observed phenotypic differences in heterozygous females with X-linked hereditary diseases. The father and mother of the patient were shown to be noncarriers of the trait, suggesting de novo mutation in the twin pregnancy. However, biochemical testing for the detection of FD heterozygous females cannot rule out the possibility of the mother being heterozygous with normal enzyme activity.

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Section: Discussionmentioning

confidence: 99%

Fabry’s Disease: Heterozygous Form of Different Expression in Two Monozygous Twin Sisters

Marguery¹,

Giordano²,

Parant³

et al. 1993

Dermatology

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“…In the beginning, a "blind" method was used to obtain fetal skin, with a very low efficiency and high rates of maternal and fetal injuries or infection [4]. Later, new techniques were developed, and FSB was performed with the aid of fetoscopy or ultrasonography [5].…”

Section: Fetal Skin Biopsymentioning

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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“…Also, many genetic disorders, among them a number of serious hereditary skin diseases, are not amenable to diagnosis by these methods. Several of these genodermatoses (in particular epidermolyses and keratinization disorders) can be identified only by ultrastructural diagnostic criteria, and second trimester fetoscopy combined with fetal skin sampling is successfully utilized for their prenatal diagnosis (Anton-Lamprecht, 1978;Elias et al, 1980;Golbus et al, 1980;Rodeck et al, 1980;Anton-Lamprecht, 1981, 1988Esterly and Elias, 1983;Anton-Lamprecht and Arnold, 1987a, b;Arnold and Anton-Lamprecht, 1987). Skin and chorionic villi share, at least during the first trimester, a number of attributes.…”

Section: Introductionmentioning

confidence: 99%

Ultrastructure of first trimester chorionic villi with regard to the prenatal diagnosis of genodermatoses

Haußer

Anton‐Lamprecht

1988

Prenatal Diagnosis

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Hopes are held out for chorion villus sampling, a technique which is gaining more and more importance for the first trimester prenatal diagnosis of chromosomal aberrations and metabolic abnormalities. A variety of inherited skin diseases can be diagnosed postnatally and prenatally (in the second trimester) by ultrastructural diagnostic markers. For evaluation of prenatal diagnosis in the first trimester, we investigated chorionic villi derived from the trophoblast layer of the early pregnancy by light microscopy and conventional electron microscopy. The ultrastructure of the cellular layers covering the villi, i.e., the inner cytotrophoblast and the outer syncytiotrophoblast, as well as that of the connective tissue of the inner extraembryonic mesoderm, are thoroughly described in relation to the ultrastructural changes in certain genodermatoses including epidermolyses and keratinization disorders. We found that chorionic villi have only a few of the characteristics differentiated in skin, and none of the structures which are relevant to the diagnosis of genodermatoses. In our view, the ultrastructural approach is not suitable for first trimester prenatal diagnosis of genodermatoses in chorionic villi.

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Antenatal diagnosis of genodermatoses

Cited by 14 publications

References 24 publications

Fabry’s Disease: Heterozygous Form of Different Expression in Two Monozygous Twin Sisters

Fabry’s Disease: Heterozygous Form of Different Expression in Two Monozygous Twin Sisters

Intrauterine Diagnosis of Genodermatoses

Ultrastructure of first trimester chorionic villi with regard to the prenatal diagnosis of genodermatoses

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