Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases

Dugan, R. B.; Pletneva, Maria; Salari, Kataneh; Berman, Deborah R.; Treadwell, M. C.

doi:10.1002/pd.4274

Cited by 5 publications

(4 citation statements)

References 10 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Dugan et al have reported a lower proportion of VLs in early pregnancy . Interestingly, in our cohort, the proportion of VLs was not correlated with gestational age.…”

Section: Discussioncontrasting

confidence: 72%

“…Their morphological features may vary greatly, especially with regard to vacuole size and number, and the presence of granules of different colors . The presence of VLs in fetal ascites of fetuses with LSD may constitute an indication for LSD testing . We sought to describe the cytological features of VLs in fetal effusions and to determine the utility of VLs for the prenatal diagnosis of LSDs in the setting of fetal effusions.…”

Section: Introductionmentioning

confidence: 99%

See 1 more Smart Citation

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases

Taconet¹,

Dreux

Guimiot

et al. 2020

Prenatal Diagnosis

View full text Add to dashboard Cite

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.

show abstract

“…Dugan et al have reported a lower proportion of VLs in early pregnancy . Interestingly, in our cohort, the proportion of VLs was not correlated with gestational age.…”

Section: Discussioncontrasting

confidence: 72%

Section: Introductionmentioning

confidence: 99%

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases

Taconet¹,

Dreux

Guimiot

et al. 2020

Prenatal Diagnosis

View full text Add to dashboard Cite

show abstract

“…in a large series of cases of nonimmune hydrops fetalis . In addition, the presence of vacuolated cells suggests a metabolic storage disease . We observed this in ten cases of our cases, for which five different metabolic storage diseases were observed.…”

Section: Discussionsupporting

confidence: 71%

Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of 100 cases of nonimmune fetal ascites

Dreux¹,

Salomon²,

Rosenblatt

et al. 2014

Prenatal Diagnosis

View full text Add to dashboard Cite

Sampling of fetal ascites fluid for biochemical and cytological examination provides important additional information. We propose a two-step management: (1) detailed ultrasound scan examination, maternal blood analysis, and fetal karyotyping and (2) biochemical and cytological analyses. On the basis of such an approach, 63% and 96% of etiologies would have been identified in our series after the first and second steps, respectively. © 2014 John Wiley & Sons, Ltd.

show abstract

“…The presence of such cells in peripheral blood smears has been described after birth in several LSDs, such as GM1 gangliosidosis, ISSD, sialidosis, mucolipidosis type II, MPS VII, and Wolman disease (Anderson et al 2005). Recently, the presence of vacuolated cells in fetal ascites fluid has been observed in fetuses affected by various LSDs (Dugan et al 2014;Dreuxetal.2015). Two classes of plasmatic biomarkers, oxysterols [cholestane-3β, 5α,6 β-triol, and 7-ketocholesterol (Jiang et al 2011;Pagan et al 2015)] and lysosphingolipids [lysophingomyelin and isoform 509 (Chuang et al 2014;Giese et al 2015;Pettazzoni et al 2015a)], have recently emerged for diagnosing Niemann-Pick disease types C and A/B (sphingomyelinase deficiency).…”

Section: Lysosomal Storage Disorders (Lsds)mentioning

confidence: 98%

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

Vianey‐Saban

Acquaviva

Cheillan

et al. 2016

J of Inher Metab Disea

View full text Add to dashboard Cite

Inborn errors of metabolism (IEMs) that present with abnormal imaging findings in the second half of pregnancy are mainly lysosomal storage disorders (LSDs), cholesterol synthesis disorders (CSDs), glycogen storage disorder type IV (GSD IV), peroxisomal disorders, mitochondrial fatty acid oxidation defects (FAODs), organic acidurias, aminoacidopathies, congenital disorders of glycosylation (CDGs), and transaldolase deficiency. Their biological investigation requires fetal material. The supernatant of amniotic fluid (AF) is useful for the analysis of mucopolysaccharides, oligosaccharides, sialic acid, lysosphingolipids and some enzyme activities for LSDs, 7- and 8-dehydrocholesterol, desmosterol and lathosterol for CSDs, acylcarnitines for FAODs, organic acids for organic acidurias, and polyols for transaldolase deficiency. Cultured AF or fetal cells allow the measurement of enzyme activities for most IEMs, whole-cell assays, or metabolite measurements. The cultured cells or tissue samples taken after fetal death can be used for metabolic profiling, enzyme activities, and DNA extraction. Fetal blood can also be helpful. The identification of vacuolated cells orients toward an LSD, and plasma is useful for diagnosing peroxisomal disorders, FAODs, CSDs, some LSDs, and possibly CDGs and aminoacidopathies. We investigated AF of 1700 pregnancies after exclusion of frequent etiologies of nonimmune hydrops fetalis and identified 108 fetuses affected with LSDs (6.3 %), 29 of them with mucopolysaccharidosis type VII (MPS VII), and six with GSD IV (0.3 %). In the AF of 873 pregnancies, investigated because of intrauterine growth restriction and/or abnormal genitalia, we diagnosed 32 fetuses affected with Smith-Lemli-Opitz syndrome (3.7 %).

show abstract

Nonimmune fetal hydrops and lysosomal storage disease: the finding of vacuolated lymphocytes in ascitic fluid in two cases

Cited by 5 publications

References 10 publications

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases

Finding vacuolated lymphocytes in fetal effusions improves the prenatal diagnosis of lysosomal storage diseases

Biochemical analysis of ascites fluid as an aid to etiological diagnosis: a series of 100 cases of nonimmune fetal ascites

Antenatal manifestations of inborn errors of metabolism: biological diagnosis

Contact Info

Product

Resources

About