scholarly journals Chromosomal anomalies in early spontaneous abortions: interphase FISH analysis on 855 FFPE first trimester abortions

2016 ◽  
Vol 36 (2) ◽  
pp. 186-191 ◽  
Author(s):  
Rosa Russo ◽  
Anna Maria Sessa ◽  
Rosalba Fumo ◽  
Sara Gaeta
Keyword(s):  
First Trimester ◽  
Chromosomal Anomalies ◽  
Fish Analysis ◽  
Spontaneous Abortions ◽  
Interphase Fish

scholarly journals Chromosomal abnormalities in recurrent spontaneous abortions: A retrospective study

2020 ◽  
Author(s):  
Inusha Panigrahi ◽  
Mohd. Shariq ◽  
Ravi Thakur ◽  
Subhas Saha ◽  
Gurjit Kaur
Keyword(s):  
Chromosomal Rearrangement ◽  
Chromosomal Abnormalities ◽  
Chromosomal Rearrangements ◽  
First Trimester ◽  
Median Number ◽  
Chromosomal Anomalies ◽  
Spontaneous Abortions ◽  
Reciprocal Translocations ◽  
Recurrent Spontaneous Abortions ◽  
Complex Chromosomal Rearrangement

Purpose: Evaluation of recurrent spontaneous abortions (RSA) can be challenging for a Obstetrician. In case of early first trimester abortions, chromosomal abnormalities can be identified as an important cause. We analysed the RSA cases followed up and diagnosed in the Genetic Clinic or Genetic Lab of 2 hospitals in the region. Methods: Those couples with 3 or more spontaneous abortions were included in the analysis. Karyotyping was one using standard protocol with G-banding and reporting as per ISCN guidelines. Results: Of 97 RSA couples, 20 showed chromosomal abnormalities, and 15 of these had balanced chromosomal rearrangements. The age ranged from 22 years to 37 years, and the median number of abortions was 4. Complex chromosomal rearrangement was seen in 2 couples, in one partner. The spectrum of chromosomal anomalies in couples with RSA is discussed here. Conclusions: Frequency of chromosomal abnormalities in RSA was higher in present study compared to previous studies. Reciprocal translocations were commonest abnormality.

scholarly journals Cytogenetic Study of Spontaneous Abortions in the Western part of Romania

2019 ◽  
Vol 70 (3) ◽  
pp. 1000-1004
Author(s):  
Simona Farcas ◽  
Nicoleta Andreescu ◽  
Daniela Amzar ◽  
Lavinia Stelea ◽  
Alexandra Mihailescu ◽  
...  
Keyword(s):  
Gestational Age ◽  
Cytogenetic Analysis ◽  
Chromosomal Abnormalities ◽  
Psychiatric Symptoms ◽  
Cytogenetic Study ◽  
Age Distribution ◽  
First Trimester ◽  
Chromosomal Anomalies ◽  
Spontaneous Abortions ◽  
Tissue Samples

Regarding the rate of chromosomal abnormalities in spontaneous abortions, the data varies between 50 and 80% for first trimester miscarriages but there are several factors that may influence the rate of chromosomal aberrations as the selection bias of the cases for which cytogenetic analysis is done, the gestational age distribution, the maternal age distribution, the tissue samples analyzed, the expertise in cytogenetic methods. The aim of the research is to establish the incidence of chromosomal aberration in our study lot for the patients from the Western part of Romania, as there are no studies available for this specific population. In the present study, patients were included with pregnancy loss between 4 to 14 weeks of gestation for whom cytogenetic evaluation of the fetus was done in the University of Medicine and Pharmacy Timisoara. Of all results, 48.57% (34 out of 70) aborted fetuses had an abnormal karyotype. The gestational age of the aborted fetuses varied between 5 and 14 weeks of gestation, with a mean of 8.95 weeks of gestation. A higher incidence of chromosomal anomalies was observed in the group including patients � 35 years as compared with the group patients aged under 35 years old (55.5% vs 45.5%). The results of cytogenetic analysis of first trimester miscarriage is an important tool that can enhance diagnostic evaluation, and represent a critical information for counselling infertile couples. Post-miscarriage genetic and psychological counselling and appropriate treatment are crucial for the prevention of high psychological distress, psychiatric symptoms and psychopathology in these patients.

scholarly journals Features of chromosomal abnormalities in spontaneous abortion cell culture failures detected by interphase FISH analysis

2004 ◽  
Vol 12 (7) ◽  
pp. 513-520 ◽  
Author(s):  
Igor N Lebedev ◽  
Nadezhda V Ostroverkhova ◽  
Tatyana V Nikitina ◽  
Natalia N Sukhanova ◽  
Sergey A Nazarenko
Keyword(s):  
Cell Culture ◽  
Spontaneous Abortion ◽  
Chromosomal Abnormalities ◽  
Fish Analysis ◽  
Interphase Fish

Sequential Interphase FISH Analysis of m-BCR/ABL Chimeric Gene-Positive Cells in Ph-Positive Acute Myeloid Leukemia

1997 ◽  
Vol 26 (1-2) ◽  
pp. 185-191 ◽  
Author(s):  
Rie Onishp ◽  
Kimio Tanaka ◽  
Chihiro Shimazaki ◽  
Noboru Yamagata ◽  
Yoshiteru Konaka ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Myeloid Leukemia ◽  
Chimeric Gene ◽  
Fish Analysis ◽  
Interphase Fish ◽  
Acute Myeloid

A Familial Small Supernumerary Marker Chromosome 15 Associated with Cryptic Mosaicism with Two Different Additional Marker Chromosomes Derived de novo from Chromosome 9: Detailed Case Study and Implications for Recurrent Pregnancy Loss

2018 ◽  
Vol 156 (4) ◽  
pp. 179-184
Author(s):  
Vida Čulić ◽  
Ruzica Lasan-Trcić ◽  
Thomas Liehr ◽  
Igor N. Lebedev ◽  
Maja Pivić ◽  
...  
Keyword(s):  
Pregnancy Loss ◽  
De Novo ◽  
Marker Chromosome ◽  
Chromosome 9 ◽  
Chromosome 15 ◽  
Normal Female ◽  
Fish Analysis ◽  
Spontaneous Abortions ◽  
Small Supernumerary Marker Chromosome ◽  
Trisomy 9

We report a case of familial small supernumerary marker chromosome 15 in a phenotypically normal female with 4 recurrent spontaneous abortions and a healthy child. The initial karyotype showed a small, bisatellited, apparently metacentric marker chromosome, 47,XX,+idic(15)(q11.1), maternally inherited. The proband's mother was mosaic for the idic(15)(q11.1) without pregnancy loss. Reexamination of the proband's karyotype revealed cryptic mosaicism for 1 ring and 1 minute chromosome derived de novo from chromosome 9 in 2% of the metaphases. In FISH analysis, the patient's karyotype was mos 47,XX,+idic(15)(q11.1)mat[100]/49,XX,+idic(15)(q11.1)mat,+r(9;9;9;9),+der(9)dn[2]. The second spontaneous abortion had trisomy 9 (47,XX,+9); the third had mosaic trisomy 9 in 21% of the nuclei and isodicentric chromosome 15 in 36% of the nuclei (mos 48,XN,+9,+idic(15)(q11.1)/47,XN,+9/47,XN,+idic(15)(q11.1)/46,XN). The first and fourth abortions were not cytogenetically studied. The cause of the spontaneous abortions in this patient is likely the cryptic mosaicism for ring and minute chromosomes 9, and gonadal mosaicism is most probable, due to the 2 abortions.

scholarly journals Unusual umbilical cord finding in a neonate

2019 ◽  
Vol 6 (6) ◽  
pp. 2685
Author(s):  
Antonieo Jude Raja ◽  
Sriambika K.
Keyword(s):  
Umbilical Cord ◽  
Congenital Anomalies ◽  
Cystic Lesion ◽  
Surgical Intervention ◽  
First Trimester ◽  
Chromosomal Anomalies ◽  
Umbilical Cord Cyst

Umbilical cord cyst refers to any cystic lesion that are associated with the umbilical cord. They are classified as true cysts or pseudocysts. True cysts are small remnants of the allantois, whereas false cysts originate from liquefaction of Wharton Jelly. In present case, cyst was diagnosed at birth without any associated congenital anomalies and resolved spontaneously within a few days requiring nil surgical intervention. Umbilical cord cysts deserve special attention since 20% of them, regardless of type, are associated with structural or chromosomal anomalies. Because of this, fetal karyotyping and amniocentesis should be considered when cysts persist beyond the first trimester.

First Trimester Hemoglobin A1 and Risk for Major Malformation and Spontaneous Abortion

2021 ◽  
pp. 13-19
Author(s):  
Rachel Blake ◽  
Chloe Zera
Keyword(s):  
Spontaneous Abortion ◽  
Clinical Case ◽  
First Trimester ◽  
Spontaneous Abortions ◽  
Major Malformation ◽  
Fetal Malformations ◽  
Study Population ◽  
Hemoglobin A1 ◽  
Location Study

This chapter summarizes a landmark study on the association of first trimester hemoglobin A1 values with risk for spontaneous abortions and major fetal malformations during pregnancy in women with pregestational diabetes. Is there a correlation between glycemic control during the first trimester and risk for spontaneous abortion and major malformations? Starting with this question, it describes the basics of the study, including study location, study population, amount of patients, study design, follow-up, endpoints, results, and criticism and limitations. The chapter briefly reviews other relevant studies and information, discusses implications, and concludes with a relevant clinical case.

Relationship between first trimester nuchal septations and chromosomal anomalies

2020 ◽  
Vol 60 (1) ◽  
pp. 1-4
Author(s):  
Qing Wang ◽  
Xin Wang ◽  
Qingqing Wu
Keyword(s):  
First Trimester ◽  
Chromosomal Anomalies

scholarly journals Infectious processes: an infrequent cause of first trimester spontaneous abortions

1996 ◽  
Vol 11 (3) ◽  
pp. 668-672 ◽  
Author(s):  
J. L. Simpson ◽  
J. L. Mills ◽  
H. Kim ◽  
L. B. Holmes ◽  
J. Lee ◽  
...  
Keyword(s):  
First Trimester ◽  
Spontaneous Abortions
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