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Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases
Author(s) -
Taconet Sarah,
Dreux Sophie,
Guimiot Fabien,
Pettazzoni Magali,
Allaf Bichr,
Spaggiari Emmanuel,
Rosenblatt Jonathan,
KhungSavatovsky Suonavy
Publication year - 2020
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.5657
Subject(s) - amniotic fluid , fetus , prenatal diagnosis , medicine , pleural effusion , pathology , vacuole , obstetrics , andrology , pregnancy , biology , biochemistry , genetics , cytoplasm
Objectives There are many causes of fetal effusions, including the rare lysosomal storage diseases (LSDs). Vacuolated lymphocytes (VLs) are found in the blood of infants with LSDs, and their presence in fetal effusion could increase the risk of underlying LSD. Methods Between 2006 and 2018, all fetal effusions samples from 43 fetal multidisciplinary centers were referred to a single laboratory. Cells were counted, and, if observed, VLs were categorized and counted. Screening for LSDs was performed by metabolite analyses on amniotic fluid supernatant. The diagnosis of an LSD was confirmed by measuring the activity of the corresponding enzyme and/or mutation analysis. Results Our laboratory received 614 ascitic fluids and 280 pleural fluids sampled between 22 and 33 weeks of gestation. The final diagnosis was LSD in 16 cases (1.8%). VLs were reported in all these 16 cases, in a mix of lymphocytes with and without vacuoles. Vacuoles in VLs varied in size and number. In most cases, VLs were easy to recognize, with numerous, large, round, well‐defined vacuoles, but in three cases of LSDs, VLs were atypical. Conclusion The finding of VLs in fetal effusions is an inexpensive first‐line test that may help to prioritize biochemical and genetic tests for LSDs.