Fetal Origin of Placental Hepatic Nodule

2021 ◽  
pp. 106689692110145
Author(s):  
Fang Bu ◽  
Ruthann Pfau ◽  
Carol Deeg ◽  
Jeff Wobser ◽  
Selene C. Koo
Keyword(s):  
Sex Chromosome ◽  
Chromosome Complement ◽  
Male Infant ◽  
Large Mass ◽  
Chromosomal Microarray ◽  
Fetal Origin ◽  
Term Delivery ◽  
Hepatic Nodule ◽  
Near Term

Intraplacental hepatic nodules are extremely rare and range from incidentally identified microscopic nodules to large mass-forming lesions. We describe the case of an incidentally identified intraparenchymal hepatic nodule in the placenta from a near-term delivery of a male infant at 36 weeks gestation. Lesional cells were positive for HepPar1, focally positive for glypican3, and negative for calretinin and alpha-fetoprotein, supportive of hepatocellular origin. Fluorescence in-situ hybridization and chromosomal microarray both showed a male sex chromosome complement (XY) within the nodule, confirming the fetal origin of this nodule. We provide the first report of the confirmed fetal origin of these rare lesions, lending support to the hypothesis that placental hepatic nodules may represent an embryonal rest or residua of abnormal cell migration.

Prenatal Diagnosis of BACs-on-Beads Assay in 3647 Cases of Amniotic Fluid Cells

2018 ◽  
Vol 26 (7) ◽  
pp. 1005-1012 ◽  
Author(s):  
Chunyan Li ◽  
Biliang Chen ◽  
Jiao Zheng ◽  
Lu Cheng ◽  
Tingting Song ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Amniotic Fluid ◽  
Sex Chromosome ◽  
Trisomy 13 ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Microdeletion Syndromes ◽  
Structural Abnormalities ◽  
Chromosomal Aneuploidies

Objective: To evaluate the diagnostic accuracy of the BACs-on-Beads (BoBs) assay for the rapid diagnosis of common aneuploidies and microdeletion syndromes. Methods: BACs-on-Beads and chromosomal karyotyping were used for detecting 3647 cases of amniotic fluid samples with indications for prenatal diagnosis, which were collected from January 2015 to June 2017 in Xijing Hospital. Fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) provided further validation. Results: The overall abnormality detection rate (BoBs combined with karyotyping) was 7.73% (282/3647). A total of 209 chromosomal aneuploidies, 10 mosaic cases, 11 microdeletion/microduplication syndromes, and 52 structural abnormalities were observed. Both assays were concordant for trisomy 21 (4.22%, 154/3647), trisomy 18 (0.69%, 25/3647), trisomy 13 (0.05%, 2/3647), and sex chromosome aneuploidies (0.77%, 28/3647). Meanwhile, DiGeorge syndrome (0.05%, 2/3647), 22q11.2 microduplication (0.08%, 3/3647), Smith-Magenis syndrome (0.03%, 1/3647), 17p11.2 microduplication (0.03%, 1/3647), Wolf-Hirschhorn syndrome (0.03%, 1/3647), Williams-Beuren syndrome (0.03%, 1/3647), Cri du Chat syndrome (0.03%, 1/3647), and Miller-Dieker syndrome (0.03%, 1/3647) were identified by BoBs assay, thus giving the incidence of the detection of these syndromes of 0.30% (11/3647). Conclusion: BACs-on-Beads assay is a reliable test for rapid detection of common aneuploidies and microdeletion syndromes, combining with karyotyping, FISH, and CMA, to improve the efficiency and accuracy of prenatal diagnosis to alleviate maternal emotional anxiety.

scholarly journals Integrated CNV-seq, karyotyping and SNP-array analyses for effective prenatal diagnosis of chromosomal mosaicism

2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Na Ma ◽  
Hui Xi ◽  
Jing Chen ◽  
Ying Peng ◽  
Zhengjun Jia ◽  
...  
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Snp Array ◽  
Genomic Rearrangements ◽  
Chromosomal Mosaicism ◽  
Chromosomal Microarray ◽  
Chromosomal Microarray Analysis ◽  
Low Level ◽  
Autosomal Aneuploidy ◽  
Number Variation

Abstract Background Emerging studies suggest that low‐coverage massively parallel copy number variation sequencing (CNV-seq) more sensitive than chromosomal microarray analysis (CMA) for detecting low-level mosaicism. However, a retrospective back-to-back comparison evaluating accuracy, efficacy, and incremental yield of CNV-seq compared with CMA is warranted. Methods A total of 72 mosaicism cases identified by karyotyping or CMA were recruited to the study. There were 67 mosaic samples co-analysed by CMA and CNV-seq, comprising 40 with sex chromosome aneuploidy, 22 with autosomal aneuploidy and 5 with large cryptic genomic rearrangements. Results Of the 67 positive mosaic cases, the levels of mosaicism defined by CNV-seq ranged from 6 to 92% compared to the ratio from 3 to 90% by karyotyping and 20% to 72% by CMA. CNV-seq not only identified all 43 chromosomal aneuploidies or large cryptic genomic rearrangements detected by CMA, but also provided a 34.88% (15/43) increased yield compared with CMA. The improved yield of mosaicism detection by CNV-seq was largely due to the ability to detect low level mosaicism below 20%. Conclusion In the context of prenatal diagnosis, CNV-seq identified additional and clinically significant mosaicism with enhanced resolution and increased sensitivity. This study provides strong evidence for applying CNV-seq as an alternative to CMA for detection of aneuploidy and mosaic variants.

Fluorescence In Situ Hybridization Analysis of Sex-Chromosome Mosaicism in Azoospermic Men

2001 ◽  
Vol 22 (6) ◽  
pp. 970-972 ◽  
Author(s):  
HIROSHI OKADA ◽  
MASAKI DOBASHI ◽  
TAKAFUMI YAMAZAKI ◽  
MASATO FUJISAWA ◽  
SOICHI ARAKAWA ◽  
...  
Keyword(s):  
In Situ Hybridization ◽  
Fluorescence In Situ Hybridization ◽  
Sex Chromosome ◽  
Hybridization Analysis ◽  
Chromosome Mosaicism

scholarly journals Rapid and simple prenatal diagnosis of common chromosome disorders: advantages and disadvantages of the molecular methods FISH and QF-PCR

Reproduction ◽  
2003 ◽  
pp. 279-297 ◽  
Author(s):  
MA Hulten ◽  
S Dhanjal ◽  
B Pertl
Keyword(s):  
Prenatal Diagnosis ◽  
Sex Chromosome ◽  
Chromosome Analysis ◽  
Maternal Serum ◽  
Molecular Techniques ◽  
Maternal Serum Screening ◽  
Advantages And Disadvantages ◽  
Microscopy Analysis ◽  
Chromosome Disorder

Molecular techniques have been developed for prenatal diagnosis of the most common chromosome disorders (trisomies 21, 13, 18 and sex chromosome aneuploidies) where results are available within a day or two. This involves fluorescence in situ hybridization (FISH) and microscopy analysis of fetal cells or quantitative fluorescence polymerase chain reaction (QF-PCR) on fetal DNA. Guidance is provided on the technological pitfalls in setting up and running these methods. Both methods are reliable, and the risk for misdiagnosis is low, although slightly higher for FISH. FISH is also more labour intensive than QF-PCR, the latter lending itself more easily to automation. These tests have been used as a preamble to full chromosome analysis by microscopy. However, there is a trend to apply the tests as 'stand-alone' tests for women who are at relatively low risk of having a baby with a chromosome disorder, in particular that associated with advanced age or results of maternal serum screening programmes. These women comprise the majority of those currently offered prenatal diagnosis with respect to fetal chromosome disorders and if introduced on a larger scale, the use of FISH and QF-PCR would lead to substantial economical savings. The implication, on the other hand, is that around one in 500 to one in 1000 cases with a mentally and/or physically disabling chromosome disorder would remain undiagnosed.

scholarly journals X and Y Chromosome Complement Influence Adiposity and Metabolism in Mice

Endocrinology ◽  
2013 ◽  
Vol 154 (3) ◽  
pp. 1092-1104 ◽  
Author(s):  
Xuqi Chen ◽  
Rebecca McClusky ◽  
Yuichiro Itoh ◽  
Karen Reue ◽  
Arthur P. Arnold
Keyword(s):  
Body Weight ◽  
Y Chromosome ◽  
Sex Chromosomes ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Gonadal Hormones ◽  
Xy Model ◽  
Second Sex ◽  
Metabolic Variables ◽  
Novel Model

Abstract Three different models of MF1 strain mice were studied to measure the effects of gonadal secretions and sex chromosome type and number on body weight and composition, and on related metabolic variables such as glucose homeostasis, feeding, and activity. The 3 genetic models varied sex chromosome complement in different ways, as follows: 1) “four core genotypes” mice, comprising XX and XY gonadal males, and XX and XY gonadal females; 2) the XY* model comprising groups similar to XO, XX, XY, and XXY; and 3) a novel model comprising 6 groups having XO, XX, and XY chromosomes with either testes or ovaries. In gonadally intact mice, gonadal males were heavier than gonadal females, but sex chromosome complement also influenced weight. The male/female difference was abolished by adult gonadectomy, after which mice with 2 sex chromosomes (XX or XY) had greater body weight and percentage of body fat than mice with 1 X chromosome. A second sex chromosome of either type, X or Y, had similar effects, indicating that the 2 sex chromosomes each possess factors that influence body weight and composition in the MF1 genetic background. Sex chromosome complement also influenced metabolic variables such as food intake and glucose tolerance. The results reveal a role for the Y chromosome in metabolism independent of testes and gonadal hormones and point to a small number of X–Y gene pairs with similar coding sequences as candidates for causing these effects.

An XX sex chromosome complement in an infant having male-type external genitals, renal agenesis, and other anomalies

1966 ◽  
Vol 69 (5) ◽  
pp. 812-814 ◽  
Author(s):  
Robert J. Schlegel ◽  
Manuel J. Aspillaga ◽  
Richard L. Neu ◽  
José Carneiro-Leão ◽  
Lytt I. Gardner
Keyword(s):  
Renal Agenesis ◽  
Sex Chromosome ◽  
Chromosome Complement ◽  
Male Type

Endocrine and immunogenetic evaluation of an XX male infant with perineoscrotal hypospadias

1985 ◽  
Vol 108 (3) ◽  
pp. 421-427 ◽  
Author(s):  
S. Kofman-Alfaro ◽  
E. Valdés ◽  
J. Terá ◽  
S. S. Wachtel ◽  
B. Chávez ◽  
...  
Keyword(s):  
Specific Binding ◽  
Chromosome Complement ◽  
External Genitalia ◽  
Male Infant ◽  
Serum Testosterone ◽  
Normal Activity ◽  
Significant Rise ◽  
Cultured Fibroblasts ◽  
Genital Ambiguity ◽  
Xx Male

Abstract. To clarify the origin of the genital ambiguity occasionally associated with the XX male syndrome, a series of endocrinological studies were undertaken in an affected 6 months old infant with perineoscrotal hypospadias. The patient fulfilled all the diagnostic criteria of the syndrome: the testes were descended bilaterally, the Mullerian derivatives were absent, the 46,XX chromosome complement was ascertained in different cell lines, and male levels of H-Y antigen were detected in cultured skin fibroblasts. Circulating gonadotrophin levels and pituitary LRH responsiveness were within normal limits for the age group. Serum testosterone (T) levels were normal, and gonadal stimulation with hCG caused a significant rise on serum T. Incubations of [3H]T with fibroblasts from genital skin revealed normal activity of steroid 5α-reductase. Moreover, normal concentrations of thermostable cytosol androgen receptors were revealed in cultured fibroblasts. Altogether the results indicated that ambiguity of the external genitalia in this patient was the result of neither abnormal T biosynthesis, peripheral A-ring T reduction, nor androgen intracellular specific binding, and suggested that the nature of the imcomplete virilization could be a non-endocrine independent event associated to this disorder. The data are also consistent with the notion that testicular impairment observed in adult XX males develops later in life.

Comparative Karyotype Investigations in the European Crayfish Astacus astacus and A. leptodactylus (Decapoda, Astacidae)

Crustaceana ◽  
2011 ◽  
Vol 84 (12-13) ◽  
pp. 1497-1510 ◽  
Author(s):  
M. Pavlica ◽  
M. Mcžić ◽  
G. Klobučar ◽  
M. Šrut ◽  
I. Maguire ◽  
...  
Keyword(s):  
Chromosome Number ◽  
Chromosome Complement ◽  
Size Difference ◽  
45S Rdna ◽  
Astacus Astacus ◽  
Fluorochrome Staining ◽  
Rdna Sites ◽  
Freshwater Habitats ◽  
Acrocentric Chromosomes

AbstractThis study reports on the chromosome number and karyological characteristics of the endangered species of European crayfish, Astacus astacus and A. leptodactylus (Decapoda, Astacidae), both native to Croatian freshwater habitats. The karyotype of A. astacus and A. leptodactylus consists of 2n = 176 and 2n = 180 chromosomes, respectively. The haploid chromosome complement of A. astacus consists of 52 metacentric, 35 metacentric-submetacentric, and 1 acrocentric chromosomes. Fluorochrome staining with 4,6-diamino-2-phenylindole (DAPI) has revealed that the karyotypes of A. astacus and A. leptodactylus are characterized by large heterochromatic blocks located at centromeric and intercalary positions on the chromosomes. Interstitial heterochromatic blocks were more frequent in A. astacus than in A. leptodactylus. In both species pairing of chromosomes in meiosis was regular with the majority of bivalents in a ring- and a dumbbell-form. Fluorescence in situ hybridization (FISH) has revealed that two 45S rDNA loci were present in the investigated species. In A. astacus one of the two 45S rDNA-bearing chromosome pairs was highly heteromorphic, exhibiting a three-fold size difference between 45S rDNA sites on homologous chromosomes. Such a size difference was significantly less pronounced in A. leptodactylus. The karyotype differences between A. astacus and A. leptodactylus suggest changes in chromosome number as well as position of repetitive DNAs have played a role in the karyotype evolution of the species of Astacus.

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