Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: Fetal skin biopsy using a 1-mm microendoscope

David E. Seubert; Baruch Feldman; Eric L. Krivchenia; Mark I. Evans; Gerard Barki; Richard Leach; Mark P. Johnson

doi:10.1159/000020982

Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: Fetal skin biopsy using a 1-mm microendoscope

David E. Seubert, Baruch Feldman, Eric L. Krivchenia, Mark I. Evans, Gerard Barki, Richard Leach, Mark P. Johnson

Research output: Contribution to journal › Article › peer-review

1 Scopus citations

Abstract

Objective: To describe a minimally invasive micro-endoscopic technique for fetal skin biopsy and direct examination for a lethal skin condition. Materials and Methods: Direct fetoscopic examination of a fetus was undertaken along with full thickness skin biopsies at 19 weeks' gestation. Results: No phenotypic expressions of the lethal condition were visualized and six full thickness skin biopsies were collected. Pathological examination revealed normal skin structures not consistent with junctional epidermolysis bullosa (JEB). Conclusion: Minimally invasive examination with the 1 mm endoscope allows direct fetal phenotypic evaluation, full thickness skin biopsies, with risks similar to amniocentesis. Copyright (C) 2000 S. Karger AG, Basel.

Original language	English
Pages (from-to)	89-92
Number of pages	4
Journal	Fetal Diagnosis and Therapy
Volume	15
Issue number	2
DOIs	https://doi.org/10.1159/000020982
State	Published - 2000
Externally published	Yes

Keywords

Fetoscopy
In-utero biopsy

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10.1159/000020982

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title = "Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: Fetal skin biopsy using a 1-mm microendoscope",

abstract = "Objective: To describe a minimally invasive micro-endoscopic technique for fetal skin biopsy and direct examination for a lethal skin condition. Materials and Methods: Direct fetoscopic examination of a fetus was undertaken along with full thickness skin biopsies at 19 weeks' gestation. Results: No phenotypic expressions of the lethal condition were visualized and six full thickness skin biopsies were collected. Pathological examination revealed normal skin structures not consistent with junctional epidermolysis bullosa (JEB). Conclusion: Minimally invasive examination with the 1 mm endoscope allows direct fetal phenotypic evaluation, full thickness skin biopsies, with risks similar to amniocentesis. Copyright (C) 2000 S. Karger AG, Basel.",

keywords = "Fetoscopy, In-utero biopsy",

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year = "2000",

doi = "10.1159/000020982",

language = "English",

volume = "15",

pages = "89--92",

journal = "Fetal Diagnosis and Therapy",

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publisher = "S. Karger AG",

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}

Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: Fetal skin biopsy using a 1-mm microendoscope. / Seubert, David E.; Feldman, Baruch; Krivchenia, Eric L. et al.
In: Fetal Diagnosis and Therapy, Vol. 15, No. 2, 2000, p. 89-92.

Research output: Contribution to journal › Article › peer-review

TY - JOUR

T1 - Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa

T2 - Fetal skin biopsy using a 1-mm microendoscope

AU - Seubert, David E.

AU - Feldman, Baruch

AU - Krivchenia, Eric L.

AU - Evans, Mark I.

AU - Barki, Gerard

AU - Leach, Richard

AU - Johnson, Mark P.

PY - 2000

Y1 - 2000

N2 - Objective: To describe a minimally invasive micro-endoscopic technique for fetal skin biopsy and direct examination for a lethal skin condition. Materials and Methods: Direct fetoscopic examination of a fetus was undertaken along with full thickness skin biopsies at 19 weeks' gestation. Results: No phenotypic expressions of the lethal condition were visualized and six full thickness skin biopsies were collected. Pathological examination revealed normal skin structures not consistent with junctional epidermolysis bullosa (JEB). Conclusion: Minimally invasive examination with the 1 mm endoscope allows direct fetal phenotypic evaluation, full thickness skin biopsies, with risks similar to amniocentesis. Copyright (C) 2000 S. Karger AG, Basel.

AB - Objective: To describe a minimally invasive micro-endoscopic technique for fetal skin biopsy and direct examination for a lethal skin condition. Materials and Methods: Direct fetoscopic examination of a fetus was undertaken along with full thickness skin biopsies at 19 weeks' gestation. Results: No phenotypic expressions of the lethal condition were visualized and six full thickness skin biopsies were collected. Pathological examination revealed normal skin structures not consistent with junctional epidermolysis bullosa (JEB). Conclusion: Minimally invasive examination with the 1 mm endoscope allows direct fetal phenotypic evaluation, full thickness skin biopsies, with risks similar to amniocentesis. Copyright (C) 2000 S. Karger AG, Basel.

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KW - In-utero biopsy

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Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: Fetal skin biopsy using a 1-mm microendoscope

Abstract

Keywords

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