Prenatal diagnosis of mucolipidosis type II on first‐trimester amniotic fluid

Livia Poenaru; Christine Mezard; Said Akli; Jean‐François ‐F Oury; Yves Dumez; Joëlle Boue

doi:10.1002/pd.1970100404

Prenatal diagnosis of mucolipidosis type II on first‐trimester amniotic fluid

Livia Poenaru, Christine Mezard, Said Akli, Jean‐François ‐F Oury, Yves Dumez, Joëlle Boue

Experimental Radiation Oncology

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

10 Scopus citations

Abstract

We investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk. Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17–week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy.

Original language	English (US)
Pages (from-to)	231-235
Number of pages	5
Journal	Prenatal diagnosis
Volume	10
Issue number	4
DOIs	https://doi.org/10.1002/pd.1970100404
State	Published - Apr 1990

Keywords

Amniotic fluid lysosomal enzymes
I‐cell disease
Mucolipidosis II

ASJC Scopus subject areas

Obstetrics and Gynecology
Genetics(clinical)

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title = "Prenatal diagnosis of mucolipidosis type II on first‐trimester amniotic fluid",

abstract = "We investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk. Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17–week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy.",

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AU - Poenaru, Livia

AU - Mezard, Christine

AU - Akli, Said

AU - Oury, Jean‐François ‐F

AU - Dumez, Yves

AU - Boue, Joëlle

PY - 1990/4

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AB - We investigated the possibility of prenatal diagnosis of mucolipidosis type II (ML II) by lysosomal enzyme determination on amniotic fluid obtained at 11 weeks of gestation in three pregnancies at risk. Diagnosis of ML II was made in one case on the basis of increased levels of five lysosomal enzymes tested. The diagnosis was confirmed on cultured chorionic cells, their cultured medium, 17–week amniotic fluid, and fetal plasma obtained for confirmation prior to the termination of pregnancy.

KW - Amniotic fluid lysosomal enzymes

KW - I‐cell disease

KW - Mucolipidosis II

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Prenatal diagnosis of mucolipidosis type II on first‐trimester amniotic fluid

Abstract

Keywords

ASJC Scopus subject areas

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