Molecular and fetal tissue biopsy capabilities are needed to maximize prenatal diagnosis of junctional epidermolysis bullosa: fetal skin biopsy using a 1-mm microendoscope.
OBJECTIVE
To describe a minimally invasive micro-endoscopic technique for fetal skin biopsy and direct examination for a lethal skin condition.


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).


CONCLUSIONS
Minimally invasive examination with the 1 mm endoscope allows direct fetal phenotypic evaluation, full thickness skin biopsies, with risks similar to amniocentesis.
Seubert
D E
DE
Center for Fetal Diagnosis, Department of Obstetrics and Gynecology, Wayne State University/Hutzel Hospital, Detroit, Mich., USA. dseubert@med.wayne.edu
Feldman
B
B
Krivchenia
E L
EL
Evans
M I
MI
Barki
G
G
Leach
R
R
Johnson
M P
MP
D000328:Adult; D001706:Biopsy; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis*; D005260:Female; D020669:Fetoscopes; D005332:Fetoscopy; D006801:Humans; D008854:Microscopy, Electron; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods*; D012867:Skin / Q000196:embryology* / Q000473:pathology*