Patterns of Placental Injury in Congenital Anomalies in Second Half of Pregnancy

2019 ◽  
Vol 22 (6) ◽  
pp. 513-522 ◽  
Author(s):  
Jerzy Stanek
Keyword(s):  
Congenital Anomalies ◽  
Degrees Of Freedom ◽  
Chromosomal Abnormalities ◽  
Chromosomal Anomalies ◽  
Bonferroni Correction ◽  
Fetal Anomalies ◽  
Vascular Abnormalities ◽  
Group 2 ◽  
Fetal Heart Failure ◽  
Heart Malformations

Background Placental pathology in fetal congenital anomalies in second half of pregnancy is largely unknown. Methods Twenty-six clinical and 45 independent placental phenotypes from pregnancies ≥20 weeks of gestation with congenital anomalies divided into 4 groups were retrospectively compared with analysis of variance or χ 2 with 3 degrees of freedom and with Bonferroni correction for multiple comparisons: group 1 : 112 cases with heart malformations (with or without chromosomal anomalies), group 2 : 41 cases with abnormal karyotypes and anomalies other than heart malformations, group 3 : 87 cases with intrathoracic or intraabdominal mass-forming anomalies (mostly congenital diaphragmatic hernias and adenomatoid airway malformation), and group 4 : 291 miscellaneous cases with mostly skeletal, renal, and central nervous system anomalies not fulfilling the criteria of inclusion into groups 1 to 3. Results Eight of 26 clinical (30.8%) and 16 of 45 (35.5%) placental phenotypes varied statistically significantly among the 4 groups ( P <  .05), of those, 7 (26.9%) and 4 (8.9%), respectively, remained statistically significant after Bonferroni correction ( P Bonferroni ≤  .002). Those placental phenotypes were placental weight, chorionic disc chorionic microcysts, fetal vascular ectasia, and luminal vascular abnormalities of chorionic villi. Conclusions Fetal anomalies in second half of pregnancy feature abnormal clinical phenotypes much more frequently than abnormal placental phenotypes. Chromosomal abnormalities with or without heart malformations tend to feature villous edema, and erythroblastosis of fetal blood, likely due to fetal heart failure. Mass-forming fetal anomalies feature placental histological lesions of shallow placental implantation, diffuse chronic hypoxic patterns of placental injury, and lesions of fetal vascular malperfusion, likely stasis-induced.

scholarly journals Prevalence, Pattern and Outcome of Congenital Malformations among Neonates Seen at a Tertiary Health Institution in Yenagoa

2021 ◽  
pp. 1-10
Author(s):  
I. I. Tunde-Oremodu ◽  
O. A. Okosun ◽  
U. Idholo ◽  
A. S. Ujuanbi ◽  
K. K. Odinaka ◽  
...  
Keyword(s):  
Cardiovascular System ◽  
Congenital Anomalies ◽  
Congenital Malformations ◽  
Chromosomal Abnormalities ◽  
Data Entry ◽  
Interval Data ◽  
Favourable Outcome ◽  
Neonatal Unit ◽  
Chromosomal Anomalies ◽  
Surgical Interventions

Background: Congenital malformations (CM) are significant causes of childhood morbidity and mortality impacting negatively on the affected family’s emotional and financial life. It also results in an enormous burden on a nation’s health and socio-economic systems. However, few studies on CM have emanated from developing countries including Nigeria and specifically from Yenagoa, Bayelsa State which is located in the oil rich Niger Delta region. We therefore analyzed the prevalence, pattern and outcome of management of babies with CM seen at the Neonatal unit (SCBU) of the Federal Medical Centre, Yenagoa. This could be used as evidence for policy makers to develop and implement CM surveillance, prevention and supportive programs. Methods: This was a descriptive observational study of all neonates with CM admitted into the Special Care Baby Unit (SCBU) over a one year period from 1st February 2017 to 31st January 2018. Identification and confirmation of congenital anomalies was done by physical examination, diagnostic investigations and surgical interventions. The conditions were classified organ and system-wise except for the chromosomal abnormalities. The prevalence and pattern of defects were determined, while factors related to the outcome of the anomalies were calculated with odds ratio and 95% confidence interval. Data entry and analysis were performed using excel and SPSS version 22. Results: Among the 502 newborn admissions during the study period, congenital anomalies were found in 61 newborns, giving a prevalence rate of 12.2% with a female preponderance of 55.7%. The commonest CM were those related to the cardiovascular system (47.5%) followed by the digestive system (32.8%) then musculoskeletal system (19.7%). The mean duration of care was 9.7± 9.0 days with mortality of 30.5% recorded at that period. Babies with CM affecting the cardiovascular system and chromosomal anomalies were less likely to survive although these relationships were not statistically significant (p > 0.05). However, duration of care showed a statistically significant relationship with outcome as babies who spent one day and less in the neonatal unit  had  reduced odds of a favourable outcome (OR – 0.07). An increased odd of survival (OR – 2.09) was seen in babies with only one congenital birth defect. Conclusion: A high prevalence of Congenital malformations in newborns was demonstrated in this study. This has highlighted the need for a well-designed surveillance, prevention and supportive hospital, State and National programme for affected babies and their families.

Characteristics of blood flow in the ductus venosus of fetus with congenital development anomalies diagnosed during the first trimester

2018 ◽  
Author(s):  
O.L. Galkina
Keyword(s):  
Blood Flow ◽  
Congenital Anomalies ◽  
Chromosomal Abnormalities ◽  
First Trimester ◽  
Nuchal Translucency ◽  
Ductus Venosus ◽  
Multiple Congenital Anomalies ◽  
Fetal Anomalies ◽  
Ultrasound Monitoring ◽  
Edwards Syndrome

Objectives: to analyze the characteristics of blood flow in the ductus venosus of fetus with congenital anomalies diagnosed during the first trimester. Materials: 20 821 first trimester pregnant women have been examined during the last 3 years. 82 fetuses have been diagnosed with congenital anomalies. In 74 out of 82 cases assessment of blood flow took place. A comparative analysis of the following parameters has been carried out: characteristics of blood flow in the ductus venosus of fetus with multiple and isolated congenital anomalies, normal nuchal translucency and expanded nuchal translucency, isolated and concomitant development anomalies of the heart and major vessels, normal and anomalous karyotype. Results: anomalous blood flow in the ductus venosus was recorded in 40 % of the fetuses with congenital anomalies – the highest in the group of fetus with multiple congenital anomalies in combination with the expanded nuchal translucency and chromosomal abnormalities – 60 %, in the group of fetus with Edwards syndrome – 90 %. Conclusion: the recording of abnormal blood flow in the ductus venosus of a fetus should be an indication for an expanded anatomical assessment of the fetus and ultrasound monitoring, as sensitive markers of fetal anomalies and chromosomal abnormalities.

scholarly journals Prevalence of Chromosomal Abnormalities in Infertile Couples in Romania

2015 ◽  
Vol 18 (1) ◽  
pp. 23-30 ◽  
Author(s):  
Dana Mierla ◽  
M. Malageanu ◽  
R. Tulin ◽  
D. Albu
Keyword(s):  
Retrospective Study ◽  
Chromosomal Abnormalities ◽  
Normal Karyotype ◽  
Control Group ◽  
Chromosomal Anomalies ◽  
Exact Test ◽  
Infertile Women ◽  
Infertile Men ◽  
Significant Statistical Association

AbstractThe purpose of this study was to establish a correlation between the presence of chromosomal abnormalities in one of the partners and infertility. This retrospective study was performed at the Department of Reproductive Medicine, Life Memorial Hospital, Bucharest, Romania, between August 2007 to December 2011. Two thousand, one hundred and ninety-five patients with reproductive problems were investigated, and the frequency of chromosomal abnormalities was calculated. The control group consisting of 87 fertile persons who had two or more children, was investigated in this retrospective study. All the patients of this study were investigated by cytogenetic techniques and the results of the two groups were compared by a two-tailed Fisher’s exact test. In this study, 94.99% patients had a normal karyotype and 5.01% had chromosomal abnormalities (numerical and structural chromosomal abnormalities). In the study group, numerical chromosomal abnormalities were detected in 1.14% of infertile men and 0.62% of infertile women, and structural chromosomal abnormalities were detected in 1.38% of infertile men and 1.87% of infertile women, respectively. The correlation between the incidence of chromosomal anomalies in the two sexes in couple with reproductive problems was not statistically significant. Recently, a possible association between infertility and chromosomal abnormalities with a significant statistical association has been reported. Our study shows that there is no association between chromosomal abnormalities and infertility, but this study needs to be confirmed with further investigations and a larger control group to establish the role of chromosomal abnormalities in the etiology of infertility.

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.

High Anti-Müllerian Hormone Level is Associated with A Lower Chromosomal Aberration Rate in Miscarried Conceptus From Women with Early Spontaneous Abortion

2020 ◽  
Author(s):  
Mingkun Mu ◽  
Simin Sun ◽  
Wei Zheng ◽  
Chen Yang ◽  
Shuheng Yang ◽  
...  
Keyword(s):  
Spontaneous Abortion ◽  
Chromosomal Aberration ◽  
Chromosomal Abnormalities ◽  
Clinical History ◽  
Advanced Age ◽  
Gene Testing ◽  
Significant Difference ◽  
Number Variation ◽  
Group 3 ◽  
Group 2

Abstract Background: Approximately 10-15% of clinically recognized pregnancies end in abortion. Most miscarriages occur as early spontaneous abortions. There are many factors leading to early spontaneous abortion, and 50–60% of such cases are associated with chromosomal abnormalities. The reason for this occurrence is not clear, but advanced age is a risk factor for chromosomal aberration in miscarried conceptus from women with early spontaneous abortion. As a marker of ovarian reserve, anti-Müllerian hormone (AMH) is negatively correlated with age. As women become older, AMH levels decrease. The objective of this study was to investigate whether different anti-Müllerian hormone (AMH) levels are associated with chromosomal aberration rate in miscarried conceptus from women who experience early spontaneous abortion.Methods: We collected the clinical history and miscarried conceptus of 434 women with early spontaneous abortion from January 2016 to June 2019. The women were divided into three groups according to AMH level (Group 1: low AMH <1.1 ng/ml [N =13], Group 2: normal AMH 1.1–4.5 ng/ml [N = 138], and Group 3: high AMH≥4.5 ng/ml [N =283]). Clinical history included age, anti-Müllerian hormone (AMH) level, number of previous abortions, estradiol (E2) level, luteinizing hormone (LH) level, follicle-stimulating hormone (FSH) level, infertile years, body mass index (BMI) and infertility factors. The miscarried conceptus was submitted for chromosomal copy number variation (CNV) analysis in the gene testing laboratory of the Third Affiliated Hospital of Zhengzhou University. Results: There were significant differences in age (39.5±4.3 vs. 33.0±5.3v s. 29.7±3.9, P＜0.001), E2 (187.9±513.4 vs. 92.9±160.6 vs. 66.5±139.3, P=0.019), LH (5.1±3.9 vs. 4.5±2.5 vs. 5.4±3.5, P=0.039), and FSH (10.7±5.6 vs. 7.3±2.6 vs. 6.4±2.1, P＜0.001) in different AMH groups. There were no significant differences in infertility years, BMI and infertility factors among the three groups.There was a significant difference in chromosomal aberration rate between different AMH groups (76.9% vs. 67.4% vs. 53.7%, Groups 2 vs. 3, respectively, P=0.008, OR 0.797, 95% CI 0.680-0.934). With the increase in AMH level, the chromosomal aberration rate in miscarried conceptus decreased gradually. After age stratification, the chromosomal aberration rate in miscarried conceptus was still significantly different among AMH groups, with a similar trend in women ≥35 years old (88.9% versus 76.0% versus 51.5%, P2 vs. 3 = 0.021, OR 0.678, 95% CI 0.470-0.977). There was the same trend in the younger group (＜35 years), but there was no significant difference (88.9% vs. 76.0% vs. 51.5).Conclusions: These findings indicate that high AMH level was associated with reduced risk of chromosomal aberration rate, especially in women of advanced age (≥35 years).

scholarly journals Congenital anomalies and associated risk factors in a Saudi population: a cohort study from pregnancy to age 2 years

BMJ Open ◽  
2019 ◽  
Vol 9 (9) ◽  
pp. e026351 ◽  
Author(s):  
Ahmed M Kurdi ◽  
Muhammad Ali Majeed-Saidan ◽  
Maha S Al Rakaf ◽  
Amal M AlHashem ◽  
Lorenzo D Botto ◽  
...  
Keyword(s):  
Risk Factors ◽  
Saudi Arabia ◽  
Risk Factor ◽  
Neural Tube ◽  
Congenital Anomalies ◽  
Tertiary Care ◽  
Chromosomal Anomalies ◽  
Saudi Population ◽  
Tertiary Care Centre ◽  
Renal Malformations

ObjectiveTo assess the three key issues for congenital anomalies (CAs) prevention and care, namely, CA prevalence, risk factor prevalence and survival, in a longitudinal cohort in Riyadh, Saudi Arabia.SettingTertiary care centre, Riyadh, Saudi Arabia.ParticipantsSaudi women enrolled during pregnancy over 3 years and their 28 646 eligible pregnancy outcomes (births, stillbirths and elective terminations of pregnancy for foetal anomalies). The nested case-control study evaluated the CA risk factor profile of the underlying cohort. All CA cases (1179) and unaffected controls (1262) were followed through age 2 years. Referred mothers because of foetal anomaly and mothers who delivered outside the study centre and their pregnancy outcome were excluded.Primary outcome measuresPrevalence and pattern of major CAs, frequency of CA-related risk factors and survival through age 2 years.ResultsThe birth prevalence of CAs was 412/10 000 births (95% CI 388.6 to 434.9), driven mainly by congenital heart disease (148 per 10 000) (95% CI 134 to 162), renal malformations (113, 95% CI 110 to 125), neural tube defects (19, 95% CI 25.3 to 38.3) and chromosomal anomalies (27, 95% CI 21 to 33). In this study, the burden of potentially modifiable risk factors included high rates of diabetes (7.3%, OR 1.98, 95% CI 1.04 to 2.12), maternal age >40 years (7.0%, OR 2.1, 95% CI 1.35 to 3.3), consanguinity (54.5%, OR 1.5, 95% CI 1.28 to 1.81). The mortality for live births with CAs at 2 years of age was 15.8%.ConclusionsThis study documented specific opportunities to improve primary prevention and care. Specifically, folic acid fortification (the neural tube defect prevalence was >3 times that theoretically achievable by optimal fortification), preconception diabetes screening and consanguinity-related counselling could have significant and broad health benefits in this cohort and arguably in the larger Saudi population.

scholarly journals Chromosomal abnormalities after ICSI in relation to semen parameters: results in 1114 fetuses and 1391 neonates from a single center

2020 ◽  
Vol 35 (9) ◽  
pp. 2149-2162
Author(s):  
F Belva ◽  
M Bonduelle ◽  
A Buysse ◽  
A Van den Bogaert ◽  
F Hes ◽  
...  
Keyword(s):  
Logistic Regression ◽  
Maternal Age ◽  
De Novo ◽  
Chromosomal Abnormalities ◽  
Semen Quality ◽  
Sperm Concentration ◽  
Prenatal Testing ◽  
Semen Parameters ◽  
Chromosomal Anomalies ◽  
Single Center

Abstract STUDY QUESTION Is there a relationship between karyotype abnormalities in fetuses and children conceived by ICSI and their father’s semen parameters? SUMMARY ANSWER The de novo chromosomal abnormality rate in pre- and postnatal karyotypes of ICSI offspring was higher than in the general population and related to fathers’ sperm parameters. WHAT IS KNOWN ALREADY Several studies have reported a higher rate of de novo chromosomal anomalies in ICSI fetuses but recent data from large cohorts are limited. Overall, reported prevalences of non-inherited karyotype aberrations are increased in fetuses conceived after ICSI and vary between 1.6% and 4.2%. Only a few studies focus on the relation between karyotype anomalies in ICSI offspring and semen parameters of their fathers. Furthermore, an increased incidence of abnormal karyotypes in ICSI neonates has been described, but the rates vary widely across studies. STUDY DESIGN, SIZE, DURATION We report on karyotype results from prenatal testing by means of chorionic villus sampling and amniocentesis and results from postnatal blood sampling in offspring conceived by ICSI in a single center. Ongoing pregnancies resulting from an oocyte retrieval between January 2004 and December 2012 and after transfer of fresh ICSI embryos obtained using ejaculated or non-ejaculated sperm (fresh or frozen-thawed) were considered. Pregnancies following frozen embryo transfer, oocyte or sperm donation, IVF, preimplantation genetic testing and IVM were excluded. All abnormal prenatal results after sampling are reported irrespective of the outcome of the pregnancy. PARTICIPANTS/MATERIALS, SETTING, METHODS From the 4816 ongoing ICSI pregnancies, information on pregnancy outcome was available for 4267 pregnancies. Prenatal testing was performed in 22.3% of the pregnancies, resulting in a diagnosis in 1114 fetuses. A postnatal karyotype was obtained in 29.4% of the pregnancies in which no invasive prenatal diagnosis was performed, resulting in a total of 1391 neonates sampled. The prevalence of chromosomal anomalies according to maternal age and semen quality was analyzed with logistic regression. For definitions of normal semen quality, the World Health Organization reference values for human semen characteristics were adopted. MAIN RESULTS AND THE ROLE OF CHANCE An abnormal fetal karyotype was found in 29 singletons and 12 multiples (41/1114; 3.7%; 95% CI 2.7–4.9%): 36 anomalies were de novo (3.2%; 95% CI 2.3–4.4), either numerical (n = 25), sex (n = 6) or structural (n = 5), and five were inherited. Logistic regression analysis did not show a significant association between maternal age and a de novo chromosomal fetal abnormality (odds ratio (OR) 1.05; 95% CI 0.96–1.15; P = 0.24). In all but one case, fetuses with an abnormal karyotype were conceived by ICSI using ejaculated sperm. Abnormal karyotypes were found in 14 (1.0%; 95% CI 0.6–1.7) out of 1391 postnatal samples of children born after ICSI who were not tested prenatally: 12 were de novo anomalies and two were inherited balanced karyotypes. The 14 abnormal karyotypes were all found in children born after ICSI using ejaculated sperm. The odds of a de novo karyotype aberration increased with maternal age when combining pre- and postnatal data (OR 1.11; 95% CI 1.04–1.19). A higher rate of de novo chromosomal abnormalities was found in fetuses and children of couples with men having a sperm concentration &lt;15 million/ml (adjusted OR (AOR) 2.10; 95% CI 1.14–3.78), sperm concentration &lt;5 million/ml (AOR 1.9; 95% CI 1.05–3.45) and total sperm count &lt;10 million (AOR 1.97; 95% CI 1.04–3.74). LIMITATIONS, REASONS FOR CAUTION We cannot exclude that the observation of a higher prevalence of karyotype anomalies in ICSI offspring compared to literature data in the general population is due to enhanced surveillance after ART given the lack of a control group. Although we did not find more chromosomal anomalies after ICSI with non-ejaculated sperm, the small numbers do not allow firm conclusions. WIDER IMPLICATIONS OF THE FINDINGS The observed increased risk of a de novo karyotype anomaly after ICSI conception in couples with poor sperm warrants continued counseling toward prenatal testing. The current and widespread use of innovative non-invasive prenatal testing will result in larger datasets, adding to a balanced estimation of the prevalence of karyotype anomalies in ICSI offspring. STUDY FUNDING/COMPETING INTEREST(S) This study was supported by the Methusalem grants issued by the Vrije Universiteit Brussel. All authors declared no conflict of interest related to this study. TRIAL REGISTRATION NUMBER N/A

Carbapenem-Resistant Klebsiella pneumoniae Outbreak in a Neonatal Intensive Care Unit: Risk Factors for Mortality

2020 ◽  
Author(s):  
Meltem Bor ◽  
Ozkan Ilhan
Keyword(s):  
Risk Factors ◽  
Intensive Care Unit ◽  
Intensive Care ◽  
Klebsiella Pneumoniae ◽  
Congenital Anomalies ◽  
Neonatal Intensive Care ◽  
Carbapenem Resistant ◽  
Group 2 ◽  
Antifungal Use ◽  
Group 1

Abstract Aim The aim of our study was to determine the factors associated with mortality in neonates with carbapenem-resistant Klebsiella pneumoniae (CRKP). Material and methods This retrospective, single-center study was conducted in the Neonatal Intensive Care Unit of Harran University Faculty of Medicine between January 2017 and July 2018 who had CRKP growth in their blood, urine or cerebrospinal fluid cultures. The discharged group was designated as the control group (Group 1), whereas the group that faced mortality was classified as the case group (Group 2). The demographic data, clinical findings and laboratory and microbiological results of the two groups were compared to identify risk factors. Results A total of 58 patients (36 in Group 1 and 22 in Group 2) exhibited CRKP growth during the study period. Low birth weight (p = 0.039), previous antifungal (p = 0.002) or amikacin use (p = 0.040), congenital anomalies (p = 0.002), total parenteral nutrition (TPN) administration (p = 0.002), surgery (p = 0.035), thrombocytopenia (p = 0.007), low platelet mass index (p = 0.011), elevated C-reactive protein (p = 0.004), high carbapenem minimum inhibitory concentration (MIC) (p = 0.029) and high amikacin MIC (p = 0.019) were associated with mortality. In a multivariate regression analysis, previous antifungal use (p = 0.028), congenital anomalies (p = 0.032) and TPN use (p = 0.013) were independent factors in predicting mortality. Conclusion Previous antifungal use, congenital anomalies and TPN use were found to be independent risk factors for mortality in neonates with CRKP infection.

scholarly journals Conditioned medium increases the polyploid cell composition of bovine somatic cell nuclear-transferred blastocysts

Reproduction ◽  
2004 ◽  
Vol 127 (2) ◽  
pp. 221-228 ◽  
Author(s):  
G-P Li ◽  
K L White ◽  
K I Aston ◽  
L N Meerdo ◽  
T D Bunch
Keyword(s):  
Conditioned Medium ◽  
Bovine Serum ◽  
Chromosomal Abnormalities ◽  
Cumulus Cell ◽  
Chromosome Complement ◽  
Cumulus Cells ◽  
Conditioned Media ◽  
Polyploid Cell ◽  
Chromosomal Anomalies ◽  
Blastocyst Development

The effects of bovine cumulus cell-conditioned medium on cloned bovine embryonic development and subsequent chromosome complement were examined using an air-dry procedure. Conditioned media were prepared using CR1aa supplemented with either fetal bovine serum (FBS) or bovine serum albumin (BSA). Nuclear-transferred embryos were reconstructed with nuclei from cumulus cells. Similar cleavage, morula, and blastocyst development was observed in conditioned media groups compared with the co-culture group. No differences (P > 0.05) were observed in the composition of blastocyst chromosomes after co-culture in different media, either with or without starvation of donor cells. The overall diploid blastocyst rate ranged from 75% to 84%. Chromosomal complement of blastocysts, however, was very different between conditioned medium and co-culture treatments. Overall incidence of chromosomal anomalies was 40% in conditioned medium, which was significantly higher (P < 0.001) than the co-culture group (20%). Moreover, a higher incidence (P < 0.05) of chromosomally abnormal blastocysts (41.5%) was observed after culture with FBS-containing conditioned medium than those cultured in BSA-containing conditioned medium (31.4%). No diploid improvement was observed after exchange of the culture system from conditioned medium to co-culture, or from co-culture to conditioned medium after the first 72 h of culture. The results of this study also indicated that the overall cell number was much lower (P < 0.01) in blastocysts with chromosomal abnormalities than those with a normal diploid state. We have concluded that medium conditioned with bovine cumulus cells increases the incidence of chromosomal anomalies in nuclear reconstructed embryos.

scholarly journals Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome

2014 ◽  
Vol 2014 ◽  
pp. 1-10 ◽  
Author(s):  
Daiane Corrêa de Souza ◽  
Cecília de Souza Fernandez ◽  
Adriana Camargo ◽  
Alexandre Gustavo Apa ◽  
Elaine Sobral da Costa ◽  
...  
Keyword(s):  
Clinical Decision Making ◽  
Chromosomal Abnormalities ◽  
Critical Role ◽  
Clinical Decision ◽  
High Association ◽  
Score System ◽  
Diagnosis And Prognosis ◽  
Group 2 ◽  
Group 1

We analyzed cytogenetically 105 patients with hypocellular primary MDS and their clinical implications. The main chromosomal abnormalities found were del(5q)/−5, del(6q)/+6, del(7q)/−7, del(11q), and del(17p). Pediatric patients had a higher frequency of abnormal karyotypes compared with adult patients (P< 0,05). From our patients, 18% showed evolution of the disease. The chromosomal abnormalities presented in the diagnosis of patients who evolved to AML included numerical (−7, +8) and structural del(6q), del(7q), i(7q), t(7;9), i(9q), and del(11q) abnormalities and complex karyotypes. Although the frequency of evolution from hypocellular MDS to AML is low, our results suggest that some chromosomal alterations may play a critical role during this process. We applied the IPSS in our patients because this score system has been proved to be useful for predicting evolution of disease. When we considered the patients according to group 1 (intermediate-1) and group 2 (intermediate-2 and high risk), we showed that group 2 had a high association with respect to the frequency of abnormal karyotypes (P< 0,0001), evolution of disease (P< 0,0001), and mortality (P< 0,001). In fact, the cytogenetic analysis for patients with hypocellular primary MDS is an important tool for diagnosis, prognosis, in clinical decision-making and in follow-up.

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