Nature and frequency of chromosomal abnormalities in pregnancies with abnormal ultrasound findings: An analysis of 117 cases with review of the literature

1992 ◽  
Vol 12 (1) ◽  
pp. 9-18 ◽  
Author(s):  
Sylvie Gagnon ◽  
William Fraser ◽  
Bertrand Fouquette ◽  
Adrien Bastide ◽  
Marc Bureau ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Review Of The Literature ◽  
Ultrasound Findings

scholarly journals Implementation of High Resolution Whole Genome Array CGH in the Prenatal Clinical Setting: Advantages, Challenges, and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-14 ◽  
Author(s):  
Paola Evangelidou ◽  
Angelos Alexandrou ◽  
Maria Moutafi ◽  
Marios Ioannides ◽  
Pavlos Antoniou ◽  
...  
Keyword(s):  
Detection Rate ◽  
Array Cgh ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Comparative Genomic ◽  
Whole Genome ◽  
Review Of The Literature ◽  
Oligonucleotide Arrays ◽  
Ultrasound Findings ◽  
Diagnostic Capacity

Array Comparative Genomic Hybridization analysis is replacing postnatal chromosomal analysis in cases of intellectual disabilities, and it has been postulated that it might also become the first-tier test in prenatal diagnosis. In this study, array CGH was applied in 64 prenatal samples with whole genome oligonucleotide arrays (BlueGnome, Ltd.) on DNA extracted from chorionic villi, amniotic fluid, foetal blood, and skin samples. Results were confirmed with Fluorescence In Situ Hybridization or Real-Time PCR. Fifty-three cases had normal karyotype and abnormal ultrasound findings, and seven samples had balanced rearrangements, five of which also had ultrasound findings. The value of array CGH in the characterization of previously known aberrations in five samples is also presented. Seventeen out of 64 samples carried copy number alterations giving a detection rate of 26.5%. Ten of these represent benign or variables of unknown significance, giving a diagnostic capacity of the method to be 10.9%. If karyotype is performed the additional diagnostic capacity of the method is 5.1% (3/59). This study indicates the ability of array CGH to identify chromosomal abnormalities which cannot be detected during routine prenatal cytogenetic analysis, therefore increasing the overall detection rate. In addition a thorough review of the literature is presented.

scholarly journals Predictive value of aberrant right subclavian artery for fetal chromosome aneuploidy in women of advanced maternal age

2021 ◽  
Vol 21 (1) ◽  
Author(s):  
Li-Ping Chen ◽  
Yong-Feng Lai ◽  
Xiao-Hong Zhong ◽  
Jian-Hong You ◽  
Jiang-Hua Chen ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Age Groups ◽  
Advanced Maternal Age ◽  
Aberrant Right Subclavian Artery ◽  
High Prevalence ◽  
Ultrasound Findings ◽  
Increase Risk ◽  
Singleton Pregnancies

Abstract Background In the entire population, an aberrant right subclavian artery (ARSA) is closely associated with chromosomal abnormalities. ARSA with additional ultrasonic findings would increase risk of chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased exponentially with the maternal age. These risks in the advanced maternal age (AMA) group are uncertain. This study aimed to determine the incidence of ARSA in Chinese AMA and non-AMA women and the frequency of aneuploidy among AMA and non-AMA women with ARSA. Methods This retrospective study included 13,690 singleton pregnancies, were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening, and fetal karyotype analysis were analyzed. Results The overall incidence of ARSA was 0.69%, with no difference between age groups. The incidence of chromosomal abnormalities in the AMA group (37 / 2860) was much higher than that of the non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. With combined ARSA and AMA, the likelihood of the incidence of chromosomal abnormalities increased. Chimerism (45X / 46XX) was found with isolated ARSA in AMA pregnancies. Conclusion There is a high prevalence of chromosomal abnormalities in fetuses of AMA women. ARSA increases the risk of chromosomal abnormalities in both age groups, especially combined with ARSA. When ARSA occurs in AMA women, it confers a high likelihood of chromosomal abnormalities.

scholarly journals Hemophagocytic Lymphohistiocytosis Complicating Erythroleukemia in a Child with Monosomy 7: A Case Report and Review of the Literature

2013 ◽  
Vol 2013 ◽  
pp. 1-3
Author(s):  
Samin Alavi ◽  
Maryam Ebadi ◽  
Alireza Jenabzadeh ◽  
M. T. Arzanian ◽  
Sh. Shamsian
Keyword(s):  
Bone Marrow ◽  
Case Report ◽  
Hemophagocytic Lymphohistiocytosis ◽  
Chromosomal Abnormalities ◽  
Bone Marrow Aspiration ◽  
Review Of The Literature ◽  
Monosomy 7 ◽  
Persistent Fever ◽  
First Case ◽  
Erythroid Precursors

Herein, the first case of childhood erythrophagocytosis following chemotherapy for erythroleukemia in a child with monosomy 7 is reported. A 5-year-old boy presented with anemia, thrombocytopenia, and hepatosplenomegaly in whom erythroleukemia was diagnosed. Prolonged pancytopenia accompanied by persistent fever and huge splenomegaly and hepatomegaly became evident after 2 courses of chemotherapy. On bone marrow aspiration, macrophages phagocytosing erythroid precursors were observed and the diagnosis of HLH was established; additionally, monosomy 7 was detected on bone marrow cytogenetic examination. In conclusion, monosomy 7 can lead to erythrophagocytosis associated with erythroid leukemia and should be considered among the chromosomal abnormalities contributing to the association.

scholarly journals CGH and direct diagnosis of mosaic structural chromosomal abnormalities: description of a mosaic ring chromosome 17 and review of the literature

2003 ◽  
Vol 11 (6) ◽  
pp. 452-456 ◽  
Author(s):  
Céline Dupont ◽  
Eva Pipiras ◽  
Sandra Chantot-Bastaraud ◽  
Alain Verloes ◽  
Clarisse Baumann ◽  
...  
Keyword(s):  
Chromosomal Abnormalities ◽  
Ring Chromosome ◽  
Chromosome 17 ◽  
Review Of The Literature

scholarly journals Gastric Calcifying Fibrous Tumour

2006 ◽  
Vol 20 (7) ◽  
pp. 487-489 ◽  
Author(s):  
Tan Attila ◽  
Dean Chen ◽  
Geoffrey W Gardiner ◽  
Theadore W Ptak ◽  
Norman E Marcon
Keyword(s):  
Smooth Muscle ◽  
Stomach Wall ◽  
Review Of The Literature ◽  
Gastrointestinal Stromal Tumours ◽  
Endoscopic Appearance ◽  
Ultrasound Findings ◽  
Mesenchymal Tumours

Intramucosal gastric tumours are most commonly found to be gastrointestinal stromal tumours or leiomyomas (smooth muscle tumours); however, a variety of other uncommon mesenchymal tumours can occur in the stomach wall. A rare benign calcifying fibrous tumour is reported and the endoscopic appearance, ultrasound findings and morphology are documented. A review of the literature found only two similar cases.

scholarly journals Predictive value of aberrant right subclavian artery for fetal chromosomal in women of advanced maternal age

2019 ◽  
Author(s):  
Jian-Hong You ◽  
Li-Ping Chen ◽  
Xiao-Hong Zhong ◽  
Jiang-Hua Chen ◽  
Jing-Xian Xie ◽  
...  
Keyword(s):  
Subclavian Artery ◽  
Maternal Age ◽  
Prenatal Screening ◽  
Chromosomal Abnormalities ◽  
Advanced Maternal Age ◽  
Aberrant Right Subclavian Artery ◽  
High Prevalence ◽  
Ultrasound Findings ◽  
Singleton Pregnancies ◽  
Fetal Karyotype

Abstract Background: In entire population, aberrant right subclavian artery ( ARSA ) was in closely association with chromosomal abnormalities. The risk of fetal chromosomal abnormalities increased with the maternal age exponentially. While, the situation in advanced maternal age ( AMA ) group is uncertain. This study aimed to establish the incidence of ARSA in Chinese AMA and non-AMA women and to determine the frequency of aneuploidy among AMA and non-AMA women with ARSA. Methods: The retrospective study included 13,690 singleton pregnancies which were divided into AMA and non-AMA groups. Integrated obstetric ultrasonic screening, biochemical screening, noninvasive prenatal screening and fetal karyotype analysis were analyzed. Results: 1. The overall incidence of ARSA was 0.69 % with no difference in both groups. 2. The prevalence rate of chromosomal abnormalities in AMA group ( 37 / 2,860 ) was much higher than that in non-AMA group. The risk of chromosomal abnormalities significantly increased with both ARSA detected and additional ultrasound findings. 3. With ARSA detected, the incidence increased to 20.00 % and 10.00 % in AMA and non-AMA cases, respectively. 4. Additionally, a case with chimeric Turner syndrome ( 45X / 46XX ) was found with isolated ARSA in AMA pregnancy. Conclusion: There is a high prevalence of chromosomal abnormalities in AMA fetuses. Both isolated and nonisolated ARSA would increase the risk of chromosomal abnormalities. Moreover, when ARSA is found in AMA ones, it confers a sharp increase in the incidence of chromosomal abnormalities.

Silicone Breast Implants and Cancer

1993 ◽  
Vol 10 (2) ◽  
pp. 97-106 ◽  
Author(s):  
Melvin A. Shiffman
Keyword(s):  
Solid State ◽  
Prospective Studies ◽  
Chromosomal Abnormalities ◽  
Breast Implants ◽  
Review Of The Literature ◽  
Genetic Changes ◽  
Genetic Aberrations ◽  
Silicone Breast Implants ◽  
Clinical Cases

Cancer is a result of genetic changes precipitated by heredity, viruses, industrial agents, drugs, radiation, diet, and many other unknown agencies. At least 2 and perhaps as many as 10 or more chromosomal abnormalities are necessary. Certain genetic aberrations cause the malignancy to become more aggressive and metastasize. At this time, there is little evidence that silicone can cause cancer in the human except, perhaps, under the theory of solid-state carcinogenesis. Information on all types of cancers in patients with silicone breast implants has to be gathered. Prospective studies must be started and retrospective analyses and clinical cases should be reported. This article adds six new cases to the record and offers a review of the literature.

scholarly journals P03.32: Prenatal ultrasound findings in trisomy 22: five case reports and a review of the literature

2005 ◽  
Vol 26 (4) ◽  
pp. 395-395
Author(s):  
R. Stressig ◽  
S. Körtge-Jung ◽  
G. Hickmann ◽  
P. Kozlowski
Keyword(s):  
Case Reports ◽  
Prenatal Ultrasound ◽  
Review Of The Literature ◽  
Ultrasound Findings

Spindle Cell Sarcoma of the Kidney with Ganglionic Elements (Malignant Ectomesenchymoma) Associated with Chromosomal Abnormalities and a Review of the Literature

1998 ◽  
Vol 20 (2) ◽  
pp. 160-164 ◽  
Author(s):  
Robert E. Goldsby ◽  
Carol S. Bruggers ◽  
Arthur R. Brothman ◽  
Poul H. B. Sorensen ◽  
J. Bruce Beckwith ◽  
...  
Keyword(s):  
Spindle Cell ◽  
Chromosomal Abnormalities ◽  
Spindle Cell Sarcoma ◽  
Review Of The Literature ◽  
Cell Sarcoma
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