scholarly journals Confined placental mosaicism in short term culture

Genetika ◽  
2016 ◽  
Vol 48 (3) ◽  
pp. 955-961
Author(s):  
Bojana Petrovic ◽  
Jelena Dukanac-Stamenkovic

Finding of fetal chromosomal mosaicism complicates genetic counseling, as well as pregnancy management. The aim of this study was to determine the risk of confined placental mosaicism in short term culture of chorionic villous samples. We conducted a retrospective review of karyotype analysis results obtained after chorionic villous sampling (CVS) in two years period. A 420 samples of chorionic villi were taken transabdominally and obtained by a semidirect method (overnight incubating culture). All fetuses with CVS mosaicism were under the intensive perinatal care. In all cases of chromosome mosaicism the additional karyotyping was performed from fetal blood samples after 22nd gestational week in order to exclude true fetal mosaicism. After delivery newborns were examined by experienced pediatrician. From 420 analyzed samples in 11 (2,6%) cases we found placental mosaicism. No anomalies were seen in genetic sonogram of this fetuses and mosaicism was confirmed only in one case. Confined placental mosaicism (CPM) was found in 2,1% (9/420) of all analyzed cases, and it made 90% of all placental mosaicism. In 60% (6/10) of placental mosaicism cases we found mosaicism with single aberrant cell. Trisomy 21 mosaicism was the most frequent aberration found in 30% of cases. Finding of mosaicism in chorionic villi sample is at special importance for genetic counseling, because every case has to be reveled individually regarding the type and level of mosaicism. Anyway, in every case of placental mosaicism intensive antenatal monitoring is necessary, with additional chromosome analysis from different tissue in consideration of previous findings.


2017 ◽  
Vol 152 (2) ◽  
pp. 81-89 ◽  
Author(s):  
Anna Soler ◽  
Carme Morales ◽  
Irene Mademont-Soler ◽  
Ester Margarit ◽  
Antoni Borrell ◽  
...  

In order to contribute to the knowledge of type and frequency of chromosome abnormalities in early pregnancy losses, we analyzed the cytogenetic results from a large series of first trimester miscarriages, using a diagnostic approach with a high success rate and no maternal contamination. A total of 1,119 consecutive chorionic villi samples were obtained before evacuation, and karyotypes were prepared after short-term culture (STC). In 603 samples, a long-term culture (LTC) was also performed. The overall and individual frequencies of the different types of chromosome abnormalities were established, including placental mosaicisms, and their relationship with maternal age and gestational weeks was assessed. An abnormal karyotype was detected in 70.3% of the samples. Single autosomal trisomy was the most frequent abnormality (64.6% of the abnormal cases), followed by triploidy (13.1%) and monosomy X (10.4%). Chromosome rearrangements were found in 5.2%, combined abnormalities in 8.9%, and placental mosaicism in 3.5% of the cases with STC and LTC performed. Individual trisomies behaved differently with respect to maternal age and intrauterine survival. Due to the combination of STC and LTC, our study offers reliable information on the incidence and type of chromosome abnormalities and placental mosaicism in miscarriages and contributes to define the cytogenetic implication in their etiology.



2003 ◽  
Vol 22 (S1) ◽  
pp. 135-135
Author(s):  
M. Entezami ◽  
S. Yildirim ◽  
S. Hese ◽  
M. Stumm ◽  
R. D. Wegner


1988 ◽  
Vol 8 (7) ◽  
pp. 501-509 ◽  
Author(s):  
D. S. Holmes ◽  
A. M. Fifer ◽  
W. E. Mackenzie ◽  
M. J. Griffiths ◽  
J. R. Newton




Head & Neck ◽  
2015 ◽  
Vol 38 (S1) ◽  
pp. E911-E915 ◽  
Author(s):  
Marine Peria ◽  
Jérôme Donnadieu ◽  
Caroline Racz ◽  
Jean-Fortuné Ikoli ◽  
Antoine Galmiche ◽  
...  


1994 ◽  
Vol 5 (3) ◽  
pp. 265-268 ◽  
Author(s):  
A. Younes ◽  
J. Drach ◽  
R. Katz ◽  
D. Jendiroba ◽  
M.H. Sabourian ◽  
...  


1987 ◽  
Vol 93 (4) ◽  
pp. 791-800 ◽  
Author(s):  
A.M.J. Buchan ◽  
D.L. Barber ◽  
M. Gregor ◽  
A.H. Soll


1979 ◽  
Vol 161 (2) ◽  
pp. 153-157 ◽  
Author(s):  
F. Herz ◽  
A. Schermer ◽  
L. G. Koss


2019 ◽  
Vol 21 (2) ◽  
pp. 279-292 ◽  
Author(s):  
A. V. Shabaldin ◽  
S. A. Shmulevich ◽  
G. N. Chistyakova ◽  
I. I. Remizova ◽  
E. B. Lukoyanycheva ◽  
...  

We have studied HLA allogeneic interactions in short-term cultures of lymphocytes from the parents having children with congenital heart defects (CHD), or subject to early reproductive losses. Twentyone married couples (CHD as the main group) who had children with sporadic CHD (interventricular septal defect) without chromosomal diseases were observed. Fifty married couples (a comparison group) had two or more reproductive losses in early gestation (up to 9 weeks), denoted as PNPs (miscarriages, missed abortions, habitual miscarriages. Forty-one families with three or more healthy children represented a control group. Immune response in cell cultures was evaluated by increasing expression of HLA-DR in a mixed culture, as compared to spontaneous lymphocyte cultures. Initial labeling of female and male lymphocytes with monoclonal antibodies to CD45 conjugated to different fluorescent dyes (PC-5 and PC-7) allowed us to evaluate the immune response of female lymphocytes to males and vice versa. The suppressor effect of autologous female serum upon the mixed culture of the lymphocytes of the spouses was also evaluated. Results of the present study showed a difference in HLA allogeneic interactions in the short-term culture of lymphocytes registered for spouses with reproductive losses and children with congenital heart defects. Reproductive losses were associated with a low blocking effect of female auto-serum upon allogeneic HLA interactions in the short-term culture of the lymphocytes of the spouses. Congenital heart defects were associated with high activity of female B-lymphocytes (CD3-/HL-DR+) in short-term mixed culture of lymphocytes from the spouses.



Blood ◽  
1985 ◽  
Vol 65 (5) ◽  
pp. 1071-1078
Author(s):  
R Holmes ◽  
MJ Keating ◽  
A Cork ◽  
Y Broach ◽  
J Trujillo ◽  
...  

Twenty-six patients with inv(16)(p13q22) or del(16)(q22) in association with acute myelomonocytic leukemia (AMML-M4, FAB classification), and abnormal marrow eosinophils have been treated at this institute. Initial bone marrow eosinophilia (greater than or equal to 4%) was observed in 22 of 26 patients (85%), and abnormal eosinophil morphology, characterized by immature cells with some interspersed basophilic granules, was evident in 26 of 26 (100%). Giemsa-banded chromosome analysis performed in all patients revealed 16 cases with inv(16)(p13q22) alone, and ten cases with additional chromosome changes. Twenty-five patients received combination induction chemotherapy, and 23 (92%) achieved complete remission (CR). The median duration of remission was 18 months (range, six to 72 + months), and the median duration of survival was 34 months (range, 0.5 to 133 months). Nine patients (35%) relapsed in the CNS at a median time of 19 months (range, six to 133 months) from first marrow CR. All patients had leptomeningeal disease, and in addition, six of nine (66%) demonstrated two or more enhancing lesions on computed tomography brain scan, consistent with intracerebral myeloblastomas. Review of 384 Giemsa-banded patients with acute myeloid leukemia revealed no other morphologic or cytogenetic subgroup with either an equivalent incidence of CNS leukemia or documented intracerebral myeloblastomas. This series of inv(16)(p13q22)/del(16)(q22) AMML reports a favorable prognosis for such patients and associates a specific clonal cytogenetic subgroup of acute leukemia with a distinct propensity for CNS relapse, manifesting as leptomeningeal disease and intracerebral myeloblastomas.



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