scholarly journals Estudo da Prevalência de Anomalias Cromossómicas em Abortamentos Espontâneos ou Mortes Fetais

2014 ◽  
Vol 27 (1) ◽  
pp. 42 ◽  
Author(s):  
Raquel Bastos ◽  
Carla Ramalho ◽  
Sofia Dória
Keyword(s):  
Gestational Age ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Cytogenetic Study ◽  
Accurate Determination ◽  
Normal Karyotype ◽  
First Trimester ◽  
Conventional Technique ◽  
Molecular Cytogenetic Techniques

<strong>Introduction:</strong> Spontaneous abortion is one of the most frequent problems of pregnancy, estimated to affect, at least, one in every four women who tries to conceive. The main purpose of this work was to study the prevalence of chromosomal abnormalities in gestational losses, evaluating their relation with maternal age, gestational age and previous abortion history.<br /><strong>Material and Methods:</strong> Retrospective study of 401 pregnancy loss cases that have gone through cytogenetic and anatomopathologic analysis between January 2008 and June 2012, in Centro Hospitalar de S. João, Oporto.<br /><strong>Results:</strong> Of the 401 cases sent to cytogenetic study, it was possible to obtain information about the chromosomal complement in 333 cases, of which 72.7% showed normal karyotype, and 27.3% abnormal karyotype. Aneuploidies represented 92.3% of the identified chromosomopathies, with trisomies being the most frequent, related with an advanced maternal age and an early gestational age. There was no agreement between the results of the cytogenetic and the anatomopathologic analysis.<br /><strong>Discussion/Conclusion: </strong>The prevalence of chromosomal abnormalities, during the first trimester, is similar between sporadic and recurrent miscarriages. With increased maternal age, trisomies, the most frequent type of aneuploidy, are more likely to occur, with a mean increment in probability of 7.4% per year. A significant karyotype-pathological correlation was not established. Maternal contamination is the main obstacle to the accurate determination of the prevalence of chromosomal abnormalities. The molecular cytogenetic techniques already available can overcome the limitations of the conventional technique.

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 A Cytogenetic Study of Chromosomal Abnormalities in first trimester abortions in different maternal age groups

2017 ◽  
Vol 06 (03) ◽  
pp. 179-183
Author(s):  
Shahin Kazi ◽  
Harsha A. Keche ◽  
Keyword(s):  
Cytogenetic Analysis ◽  
Maternal Age ◽  
Chromosomal Abnormalities ◽  
Cytogenetic Study ◽  
Age Groups ◽  
First Trimester ◽  
Standard Protocol ◽  
Spontaneous Abortions ◽  
Chromosomal Disorders ◽  
First Trimester Of Pregnancy

Abstract Background : Approximately 15% of all clinically recognized pregnancies end in spontaneous abortions. Chromosomal disorders are responsible for 50% of the spontaneous abortions. Most commonly it occurs in the first trimester of pregnancy. Aim : To study the cytogenetic analysis of chorion villous tissue in 50 cases of abortion in age groups of 19-40 years. Material and Methods : Cytogenetic analysis was performed by implementing standard protocol of planting, harvesting, banding and screening. The karyotypes were prepared and observed under microscope. Statistical analysis was done by calculating the percentage of abnormal abortions in relation to maternal age. Results : It was observed that maximum abortion took place between 25-34 years of maternal age. The rate of abortion with trisomy was maximum followed by polyploidy and monosomy. It was seen that rate of abortion with monosomy decreases with increase in maternal age. Contrary to this trisomy increased with increase in maternal age. Conclusion : Cytogenetic study revealed that the rate of trisomie abortions increased with the increase in maternal age.

scholarly journals Frequency of subclinical hypothyroidism and mean serum TSH level in first trimester of pregnancy.

2021 ◽  
Vol 28 (12) ◽  
pp. 1763-1767
Author(s):  
Fouzia Perveen ◽  
Lubna Ali ◽  
Afshan Hasan
Keyword(s):  
Pregnant Women ◽  
Gestational Age ◽  
Subclinical Hypothyroidism ◽  
Maternal Age ◽  
Age Groups ◽  
First Trimester ◽  
Level Data ◽  
First Trimester Of Pregnancy ◽  
The Mean ◽  
Serum Tsh

Objective: To find out the frequency of subclinical hypothyroidism (SCH) in our pregnant population during 1st Trimester and the mean TSH level in first trimester of pregnancy. Study Design: Cross Sectional Descriptive study. Setting: Dow University Hospital and Dr Ruth KM Pfau CHK. Period: June 2015 to May 2016. Material & Methods: All Pregnant women with <14 weeks gestation were screened for Serum TSH level. Data were recorded after informed consent and institutional ethical approval. Variables recorded were age, parity, gestational age and serum TSH level. Data were analyzed on SPSS version 16. Mean and SD were calculated for quantitative variables ie. Age, parity, gestational age, serum TSH level and serum free T4 level. Mean TSH level according to age group, parity and gestational age groups were determined by applying ANOVA test. Correlation of Serum TSH level with the maternal age, parity and gestational age groups were also assessed by Pearson Correlation test. Significant P-value was taken as <0.05. Results: The frequency of SCH found was 19.35% by taking cut off limit of <2.5 IU/L and 3.55% by taking cut off limit of <4.5 IU/L among total of 310 pregnant women. Mean TSH level was 1.84±1.36 IU/L. The mean maternal age was 27.22 ± 4.43 yrs. while median parity was 1. Mean gestational age of these patients were 9.41 ± 2.748 weeks and out of these 160 (51.61%) were between 4-9 weeks and 150(48.38%) between 10-14 weeks. Majority (74%) of these women belonged to lower middle socioeconomic class. Mean TSH level coorelation between different age groups, parity groups and gestational age groups were found to be insignificant. Conclusion: The prevalence of SCH is not so high and mean TSH level in our population was 1.84 IU/L. But to establish reference range for Pakistani population, further studies in population of different backgrounds and geographical distribution needs to be evaluated.

scholarly journals Ductus Venosus Agenesis and Fetal Malformations: Report of Four Cases

2018 ◽  
Vol 1 (1) ◽  
Author(s):  
Alexandra Matias ◽  
Diana Pacheco ◽  
Otilia Brandão ◽  
Nuno Montenegro
Keyword(s):  
Gestational Age ◽  
Umbilical Vein ◽  
Pregnancy Termination ◽  
Rare Condition ◽  
Normal Karyotype ◽  
First Trimester ◽  
The Other ◽  
Careful Examination ◽  
Ductus Venosus ◽  
Imaging Findings

Background: The agenesis of the ductus venosus (DVA) is a rare condition with a variable prognosis that relies partly on the presence of associated conditions. Therefore, the prenatal evaluation should include a careful examination of fetal circulation, particularly the umbilical and portal venous malformations.Methods In this study, we describe four cases of DVA diagnosed at our institution. For each case, we access the patient’s files in order to extract the following information: gestational age, umbilical vein connection, pre-natal imaging findings, gestational age at delivery or at pregnancy termination, fetal outcomes, post-natal imaging findings, post-mortem findings and karyotype.Results From the four cases included, two were diagnosed in the first trimester and the other two cases in the second trimester of gestation. Prenatal ultrasound studies revealed an intrahepatic shunt in one case and an extrahepatic shunt in three cases. In one case, the karyotype was not performed, whereas the other three had a normal karyotype. Cardiac anomalies were found in three of the four fetuses. All but one case presented with extracardiac abnormalities. None of the cases developed hydrops. Two cases are currently alive and well, one termination of pregnancy occurred at 25 weeks of gestation and one case died at 14 days during surgical correction of a complex cardiac malformation.Conclusions Clinicians should be aware of different and important findings during the fetal examination, which can be indicative of a DVA, and, when suspected, serial revaluations should be scheduled in order to identify any malformation.

scholarly journals Application of Veterinary Cytogenetics in Domestic Animals: A Review

2019 ◽  
pp. 1-16
Author(s):  
Muhammad Sanusi Yahaya ◽  
Mohd Shahrom Salisi ◽  
Nur Mahiza Md. Isa ◽  
Abd Wahid Haron ◽  
Innocent Damudu Peter
Keyword(s):  
Chromosomal Abnormalities ◽  
Hybrid Sterility ◽  
Molecular Cytogenetics ◽  
Basic Research ◽  
Animal Production ◽  
Somatic Development ◽  
Molecular Cytogenetic ◽  
Molecular Cytogenetic Techniques

Cytogenetics is the study of chromosomes; their structure and properties, chromosome behavior during cell division, their influence on traits and factors which cause changes in chromosomes.  Veterinary cytogenetics is the application of cytogenetics to clinical problems that occur in animal production. It has been applied to understand problems such as infertility and its types, embryonic and fetal death, abnormality in sexual and somatic development and hybrid sterility and also prenatal sex determination and other forms of chromosomal abnormalities. These are achieved through conventional and banded karyotyping techniques and molecular cytogenetic techniques. Although conventional techniques are still useful and very widely applied, the nature of cytogenetics has gradually changed as a result of advances achieved in the molecular cytogenetic techniques for example fluorescent in situ hybridization and array-based techniques. These changes are evident in both molecular diagnostics and basic research. The combination of conventional and molecular cytogenetics has given rise to high resolution techniques which have enabled the study of fundamental questions regarding biological processes. It enables the study of inherited syndromes, the mechanisms of tumorigenesis at molecular level, genome organization and the determination of chromosome homologies between species. It allows the ease with which animals are selected in breeding programs and other important aspects of animal production. In this paper we discussed a number of techniques employed in cytogenetics and their methodologies, and recommend where future focus should be for the benefits of animal production.

Prenatal Tobacco and Marijuana Use Among Adolescents: Effects on Offspring Gestational Age, Growth, and Morphology

PEDIATRICS ◽  
1995 ◽  
Vol 95 (5) ◽  
pp. 738-743
Author(s):  
Marie D. Cornelius ◽  
Paul M. Taylor ◽  
Diklah Geva ◽  
Nancy L. Day
Keyword(s):  
Longitudinal Study ◽  
Birth Weight ◽  
Adolescent Mothers ◽  
Gestational Age ◽  
Maternal Age ◽  
Marijuana Use ◽  
First Trimester ◽  
Negative Effects ◽  
Growth Outcomes ◽  
Minor Physical Anomalies

Objective. This longitudinal study examined the effects of tobacco and marijuana use during pregnancy on the gestational age, growth, and morphology of 310 offspring of adolescents. Data were collected during 1990 through 1993. Methodology. The adolescents were drawn from a prenatal clinic in Pittsburgh, PA. They were interviewed at mid-pregnancy and at delivery to obtain information on tobacco, marijuana, and other substance use before and during pregnancy. Infants were examined 24 to 36 hours after birth. Results. The average maternal age was 16.1 (range 12 to 18 years); 70% were African-American. Prenatal tobacco use was associated with reduced birth weight, length, head and chest circumferences, and ponderal index, but not gestational age or the number of morphological abnormalities. Prenatal marijuana exposure was associated with reduced gestational age. Among whites, first trimester marijuana exposure was associated with an increased rate of minor physical anomalies. Prenatal marijuana exposure was not associated with any growth outcomes. Conclusions. These effects of prenatal tobacco and marijuana use were prominent despite lower levels of prenatal exposure in the offspring of adolescent mothers as compared with the offspring of adult mothers from the same clinic. Young maternal age may increase the offspring's risk of negative effects from prenatal tobacco and marijuana exposure.

The role of hormonal and vascular dysregulation in the genesis of early reproductive losses

2014 ◽  
Vol 63 (4) ◽  
pp. 22-33 ◽  
Author(s):  
Irina Aleksandrovna Gaziyeva ◽  
Guzel Nukhovna Chistyakova ◽  
Irina Ivanovna Remizova
Keyword(s):  
Growth Factor ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Hormonal Control ◽  
Soluble Adhesion Molecules ◽  
Vascular Dysregulation ◽  
Fetoplacental Complex ◽  
Reproductive Losses

The Purpose. To study the role of hormonal and vascular dysregulation for the genesis of early reproductive losses without fetus chromosomal abnormalities. Materials and methods. The study involved 150 pregnant women: 38 women with early reproductive losses in this pregnancy (main group) and 112 women with delivery of live full-term infant (comparison group). Determination of factors characterizing the function of fetoplacental complex, indicators of the endothelial function and regulators of angiogenesis was performed in the first trimester of progressive pregnancy. Results. It is established that the mechanisms of abortion in the first trimester is associated with reduced production of hormones and proteins, which are indicators of the formation and function of fetoplacental complex and mediating immunomodulatory, tolerogens and angiogenic effects: β-HCG, PAPP-A and trophoblastic β-1-glycoprotein. Impair of hormonal control of gestational remodeling of the maternal body is associated with endothelial dysfunction and dysregulation of angiogenesis. Markers of endotheliopathy are: increased levels of endothelin-1, propeptide big-endothelin and homocysteine, decreased production of total and endogenous nitrite, and the changing of release of soluble adhesion molecules. Disbalans of stimulators and inhibitors of angiogenesis is characterized by the increased level of proangiogenic vascular endothelial growth factor (VEGF) and platelet-derived growth factor (PDGF) as well as by the reduction of level of antiangiogenic soluble receptor of VEGF (sVEGF-R1), protein 1, binding insulin-like growth factor (IGF-BP1), and placental growth factor (PlGF). Conclusion. The determination of factors of hormonal and vascular dysregulation in the early pregnancy contributes to the timely identification of women with risk of miscarriage.

Factors Associated with Placental Vascularization Measured by 3D Power Doppler Ultrasonographic Sphere Biopsy between 11 and 14 Weeks of Gestation

2018 ◽  
Vol 35 (10) ◽  
pp. 964-971 ◽  
Author(s):  
Amelie Boutin ◽  
Regina Dembickaja ◽  
Mercedes Campanero ◽  
Kypros Nicolaides ◽  
Suzanne Demers
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Gestational Age ◽  
Maternal Age ◽  
Power Doppler ◽  
First Trimester ◽  
Flow Index ◽  
Crown Rump Length ◽  
Nulliparous Women ◽  
3D Power Doppler

Objective Preeclampsia is associated with placental vascularization disorders. Ultrasonographic sphere biopsy (USSB) of the placenta can estimate the vascularization of the placenta and potentially the risk of preeclampsia. We aimed to explore the factors related to placental vascularization measured with USSB in the first trimester. Study Design A prospective cohort was conducted in women recruited at 11 to 14 weeks. Three-dimensional acquisition of the placenta with power Doppler was undertaken along with crown-rump length (CRL). Using USSB of the full placental thickness at its center, vascularization index, flow index, and vascular flow index were measured. Pearson's correlation coefficients and multivariate linear regression were used to correlate the vascularization indices with CRL and maternal characteristics. Results A total of 5,612 women were recruited at a mean gestational age of 12.8 ± 0.6 weeks. We observed that vascularization indices increase with CRL. After adjustment, we observed that maternal age, ethnicity other than Caucasian, and body mass index were associated with lower vascularization indices, while diabetes, smoking, and assisted reproduction technology were not. We observed that parous women without history of preeclampsia had greater vascularization indices compared with nulliparous women. Conclusion Placental vascularization indices assessed by USSB fluctuate with gestational age, ethnicity, maternal age, body mass index, and previous pregnancy history.

Predictors of Fetal Outcome in Pregnant Trauma Patients: A Five-Year Institutional Review

2007 ◽  
Vol 73 (8) ◽  
pp. 824-827 ◽  
Author(s):  
Sharline Z. Aboutanos ◽  
Michel B. Aboutanos ◽  
Douglas Dompkowski ◽  
Therese M. Duane ◽  
Ajai K. Malhotra ◽  
...  
Keyword(s):  
Emergency Department ◽  
Gestational Age ◽  
Maternal Age ◽  
Injury Severity ◽  
Trauma Surgery ◽  
Significant Risk ◽  
First Trimester ◽  
Fetal Outcome ◽  
Fetal Survival ◽  
Glascow Coma Scale

Injury Severity Score (ISS) and lactate are controversial in predicting fetal outcome. A retrospective review was conducted to determine whether ISS and lactate are valuable in predicting fetal survival in injured pregnant patients. Injured pregnant women were identified by ICD-9 codes from our Trauma Registry, Emergency Department Registry, and hospital medical records. Records were reviewed for demographic data, mechanism of injury, ISS, Glascow Coma Scale, lactate, vital signs, and maternal/fetal outcome. To determine statistical analysis, χ2 and t test analysis was performed. From 2001 to 2005, 294 women reported injuries. Most patients (51.7%) were discharged from the Emergency Department, yet 18 per cent were admitted to Trauma Surgery. The average maternal and gestational age was 23.4 years and 19.6 weeks, respectively. Seventy-two (33.3%) patients were in the first trimester. The majority of patients (88.1%) were involved in blunt trauma, and 10 (3.9%) had poor fetal outcome (nine fetal deaths and one hydrops fetalis). There were no maternal deaths. Maternal age, first trimester, elevated lactate, and high ISS were significant risk factors for poor fetal outcome (P = 0.044, P = 0.0173, P = 0.0001, and P = 0.0001, respectively). Specific parameters (ISS, lactate, maternal age, and gestational age) may be helpful in predicting poor fetal outcome and directing patient management.

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