Amniotic fluid cell‐free DNA in preterm prelabor rupture of membranes

2018 ◽  
Vol 38 (13) ◽  
pp. 1086-1095 ◽  
Author(s):  
Marian Kacerovsky ◽  
Barbora Vlkova ◽  
Ivana Musilova ◽  
Ctirad Andrys ◽  
Lenka Pliskova ◽  
...  
Keyword(s):  
Amniotic Fluid ◽  
Amniotic Fluid Cell ◽  
Cell Free Dna ◽  
Free Dna ◽  
Prelabor Rupture Of Membranes ◽  
Fluid Cell

scholarly journals Cerebrospinal fluid liquid biopsy for detecting somatic mosaicism in brain

2021 ◽  
Vol 3 (1) ◽  
Author(s):  
Zimeng Ye ◽  
Zac Chatterton ◽  
Jahnvi Pflueger ◽  
John A Damiano ◽  
Lara McQuillan ◽  
...  
Keyword(s):  
Cerebrospinal Fluid ◽  
Liquid Biopsy ◽  
Somatic Mutations ◽  
Somatic Mosaicism ◽  
Autism Spectrum ◽  
Brain Diseases ◽  
Cell Free Dna ◽  
Free Dna ◽  
Subcortical Band Heterotopia ◽  
Fluid Cell

Abstract Brain somatic mutations are an increasingly recognized cause of epilepsy, brain malformations and autism spectrum disorders and may be a hidden cause of other neurodevelopmental and neurodegenerative disorders. At present, brain mosaicism can be detected only in the rare situations of autopsy or brain biopsy. Liquid biopsy using cell-free DNA derived from cerebrospinal fluid has detected somatic mutations in malignant brain tumours. Here, we asked if cerebrospinal fluid liquid biopsy can be used to detect somatic mosaicism in non-malignant brain diseases. First, we reliably quantified cerebrospinal fluid cell-free DNA in 28 patients with focal epilepsy and 28 controls using droplet digital PCR. Then, in three patients we identified somatic mutations in cerebrospinal fluid: in one patient with subcortical band heterotopia the LIS1 p. Lys64* variant at 9.4% frequency; in a second patient with focal cortical dysplasia the TSC1 p. Phe581His*6 variant at 7.8% frequency; and in a third patient with ganglioglioma the BRAF p. Val600Glu variant at 3.2% frequency. To determine if cerebrospinal fluid cell-free DNA was brain-derived, whole-genome bisulphite sequencing was performed and brain-specific DNA methylation patterns were found to be significantly enriched (P = 0.03). Our proof of principle study shows that cerebrospinal fluid liquid biopsy is valuable in investigating mosaic neurological disorders where brain tissue is unavailable.

Chromosomal mosaicism in amniotic fluid cell cultures

1977 ◽  
Vol 90 (3) ◽  
pp. 501-502 ◽  
Author(s):  
Nataline B. Kardon ◽  
Marian Krauss ◽  
Jessica G. Davis ◽  
Edmund C. Jenkins ◽  
Staten Island
Keyword(s):  
Amniotic Fluid ◽  
Cell Cultures ◽  
Chromosomal Mosaicism ◽  
Amniotic Fluid Cell ◽  
Fluid Cell

Enhancement of amniotic fluid cell growth in culture

1974 ◽  
Vol 22 (1) ◽  
pp. 81-84 ◽  
Author(s):  
H. W. R�diger ◽  
Renate Wolff ◽  
U. Wendel ◽  
E. Passarge
Keyword(s):  
Cell Growth ◽  
Amniotic Fluid ◽  
Amniotic Fluid Cell ◽  
Fluid Cell

Evaluation of amniotic fluid cell filtration: An experimental approach to early amniocentesis

1993 ◽  
Vol 13 (4) ◽  
pp. 247-255 ◽  
Author(s):  
Ingo Kennerknecht ◽  
Sabine Krämer ◽  
Dieter Grab ◽  
Rainer Terinde
Keyword(s):  
Amniotic Fluid ◽  
Experimental Approach ◽  
Amniotic Fluid Cell ◽  
Cell Filtration ◽  
Fluid Cell

Chromosome polymorphisms in karyotypes from amniotic fluid cell cultures

2008 ◽  
Vol 11 (3) ◽  
pp. 243-248 ◽  
Author(s):  
P. E. Barker ◽  
T. Mohandas ◽  
M. M. Kaback
Keyword(s):  
Amniotic Fluid ◽  
Cell Cultures ◽  
Amniotic Fluid Cell ◽  
Fluid Cell
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