scholarly journals Analysis of the clinical features of pericentric inversion of chromosome 9

2020 ◽  
Vol 48 (9) ◽  
pp. 030006052095782
Author(s):  
Xiaolei Xie ◽  
Fuguang Li ◽  
Weihe Tan ◽  
Jiang Tang

Objective The pericentric inversion of chromosome 9 (inv9) is one of the most common structural balanced chromosomal variations, and it is considered to be a normal population variant. The aim of this study was to re-evaluate the clinical impact of patients with inv9. Methods We studied the karyotypes from 4853 patients at a single center and retrospectively reviewed their clinical data. Results There were 67 inv9 patients among 2988 adults, and 62 of them showed different clinical features, including male and female infertility, oligoasthenozoospermia, and azoospermia. Thirty-one cases of inv9 were found in 1865 fetuses, including two cases in chorionic villus (6.90%) and 29 in amniotic fluid (1.67%), but there were no cases in umbilical cord blood. The rates of fetal phenotype abnormal and adverse pregnancy outcome with inv9 in the chorionic villus were 100.00% (2/2), while only 17.24% (5/29) in the amniotic fluid showed abnormalities, among which 60.00% (3/5) had adverse pregnancy outcomes. Conclusions Although there is no clear evidence that inv9 is pathogenic, the genetic counseling on inv9 in early pregnancy and adults needs to be given more attention.

2019 ◽  
Vol 1 (7) ◽  
pp. 5-8
Author(s):  
L. S. Kruglova ◽  
A. A. Osina ◽  
A. A. Khotko

Among patients with psoriasis, approximately 50% are women and almost 75 % of them are under the age of 40 years. Thus, most women with psoriasis have childbearing potential. When pregnancy occurs in 22 % of patients, the activity of psoriasis persists, characteristic of the course before pregnancy, in 23 % of women, the course of the disease worsens. The article provides up-to-date data on the management of pregnant patients with psoriasis. To improve pregnancy outcomes in patients with psoriasis, it is important to prevent exacerbation of the disease. The choice of drug therapy in this case is based on an assessment of the ratio of the risk of undesirable effects of the drugs on the developing fetus and the risk of the development of exacerbation of psoriasis, which can cause an adverse pregnancy outcome. Despite the fact that the available clinical experience of using genetically engineered drugs is still limited, with a certain degree of confidence we can say that there is no increase in the risk of adverse pregnancy outcomes associated with therapy with certolizumab pegol.


2015 ◽  
Vol 43 (6) ◽  
Author(s):  
Katarina Jeremic ◽  
Aleksandar Stefanovic ◽  
Jelena Dotlic ◽  
Jelena Stojnic ◽  
Sasa Kadija ◽  
...  

AbstractThe study aim was to evaluate pregnancy outcomes in patients with antiphospholipid syndrome (APS) and to determine which clinical parameters present risk factors for adverse pregnancy outcomes in these patients.The study included 55 patients with APS treated at the Clinic for Ob/Gyn, Clinical Center of Serbia, from 2006 to 2012. The control group consisted of 55 healthy pregnant women. Data regarding previous pregnancies and conception method were registered. Immunological and laboratory tests were performed. Pregnancy outcomes, including miscarriage, intrauterine fetal death, hypertensive disorders, diabetes mellitus, phlebothrombosis, fetal growth restriction, premature delivery, delivery method, perinatal asphyxia, respiratory distress syndrome, intraventricular hemorrhage, and necrotizing enterocolitis were followed.The premature delivery rate in APS patients was 31.8%, and pregnancy loss was 18.2%. Significantly more patients with APS had thrombocytopenia, pregnancy losses, intrauterine growth restriction, and perinatal asphyxia compared with the control group. More miscarriages, preterm delivery, lower birth weight, preeclampsia, and IgM anticardiolipin antibody levels significantly correlated with adverse pregnancy outcomes. Although rare, respiratory distress syndrome can also worsen neonatal health status. According to ROC analysis, previous miscarriages correctly explained 66.3% of adverse pregnancy outcome cases. We generated four equations of adverse pregnancy outcome risk factors.The most important prognostic factor for pregnancy outcome in APS patients is the number of previous miscarriages. Using appropriate current therapeutic protocol can enable live birth of a healthy newborn in most cases.


2022 ◽  
Vol 226 (1) ◽  
pp. S314-S315
Author(s):  
Alexandria Kraus ◽  
Lauren Kucirka ◽  
Hina Shah ◽  
Juan Prieto ◽  
Nancy Chescheir ◽  
...  

Circulation ◽  
2020 ◽  
Vol 141 (Suppl_1) ◽  
Author(s):  
Amanda M Perak ◽  
Alan Kuang ◽  
Nicola Lancki ◽  
Darwin R Labarthe ◽  
Svati H Shah ◽  
...  

Introduction: Gestational hyperlipidemia has traditionally been considered physiologic and benign, but the significance of inter-individual variation in lipid levels for maternal-fetal health are poorly understood. We examined associations of gestational lipids and apolipoproteins with adverse obstetric and neonatal outcomes. Methods: Data from the Hyperglycemia and Adverse Pregnancy Outcome Study were analyzed, including 1,813 mother-child dyads from 9 field centers in 6 countries: US (25%), Barbados (24%), UK (20%), China (16%), Thailand (8%), and Canada (7%). Fasting lipids and apolipoproteins were directly measured at a mean of 28 (range 23-34) weeks’ gestation. Cord blood was collected at delivery, neonatal anthropometrics were measured within 72 hours, and medical records were abstracted for obstetric outcomes. Logistic regression was utilized to test associations of lipids and apolipoproteins (per +1 SD; log-transformed if skewed) with pregnancy outcomes, adjusted for center, demographics, and maternal covariates such as BMI, blood pressure, and glycemia. Results: See Table for lipid and apolipoprotein levels in pregnant mothers. In fully adjusted models ( Table ), 1 SD higher log-triglycerides (i.e., ~2.7-fold higher triglyceride level) in late pregnancy was significantly associated with higher odds for preeclampsia (OR 1.53 [95% CI, 1.15-2.05]), large for gestational age infant (1.42 [1.21-1.67]), and infant insulin sensitivity <10 th percentile (1.25 [1.03-1.50]), but not with unplanned primary cesarean section or infant sum of skinfolds >90 th percentile. There were no significant associations of maternal HDL-C, LDL-C, or log-ApoB/A1 ratio with any outcome. Conclusion: Triglyceride levels in the latter half of pregnancy were uniquely associated with both maternal risks (preeclampsia) and neonatal risks (large for gestational age and insulin resistance), even after adjustment for maternal BMI, blood pressure, and glycemia.


2020 ◽  
Vol 9 (11) ◽  
pp. 3441
Author(s):  
Ramy Abou Ghayda ◽  
Han Li ◽  
Keum Hwa Lee ◽  
Hee Won Lee ◽  
Sung Hwi Hong ◽  
...  

(1) Background: Until now, several reports about pregnant women with confirmed coronavirus disease 2019 (COVID-19) have been published. However, there are no comprehensive systematic reviews collecting all case series studies on data regarding adverse pregnancy outcomes, especially association with treatment modalities. (2) Objective: We aimed to synthesize the most up-to-date and relevant available evidence on the outcomes of pregnant women with laboratory-confirmed infection with COVID-19. (3) Methods: PubMed, Scopus, MEDLINE, Google scholar, and Embase were explored for studies and papers regarding pregnant women with COVID-19, including obstetrical, perinatal, and neonatal outcomes and complications published from 1 January 2020 to 4 May 2020. Systematic review and search of the published literature was done using the Preferred Reporting Items for Systematic Review and Meta-Analyses (PRISMA). (4) Results: In total, 11 case series studies comprising 104 pregnant women with COVID-19 were included in our review. Fever (58.6%) and cough (30.7%) were the most common symptoms. Other symptoms included dyspnea (14.4%), chest discomfort (3.9%), sputum production (1.0%), sore throat (2.9%), and nasal obstruction (1.0%). Fifty-two patients (50.0%) eventually demonstrated abnormal chest CT, and of those with ground glass opacity (GGO), 23 (22.1%) were bilateral and 10 (9.6%) were unilateral. The most common treatment for COVID-19 was administration of antibiotics (25.9%) followed by antivirals (17.3%). Cesarean section was the mode of delivery for half of the women (50.0%), although no information was available for 28.8% of the cases. Regarding obstetrical and neonatal outcomes, fetal distress (13.5%), pre-labor rupture of membranes (9.6%), prematurity (8.7%), fetal death (4.8%), and abortion (2.9%) were reported. There are no positive results of neonatal infection by RT-PCR. (5) Conclusions: Although we have found that pregnancy with COVID-19 has significantly higher maternal mortality ratio compared to that of pregnancy without the disease, the evidence is too weak to state that COVID-19 results in poorer maternal outcome due to multiple factors. The number of COVID-19 pregnancy outcomes was not large enough to draw a conclusion and long-term outcomes are yet to be determined as the pandemic is still unfolding. Active and intensive follow-up is needed in order to provide robust data for future studies.


2018 ◽  
Vol 189 ◽  
pp. 10014 ◽  
Author(s):  
Yu Mu ◽  
Kai Feng ◽  
Ying Yang ◽  
Jingyuan Wang

Adverse pregnancy outcomes can bring enormous losses to both families and the society. Thus, pregnancy outcome prediction stays a crucial research topic as it may help reducing birth defect and improving the quality of population. However, recent advances in adverse pregnancy outcome detection are driven by data collected after mothers having been pregnant. In this situation, if a bad pregnancy outcome is diagnosed, the parents will suffer both physically and emotionally. In this paper, we develop a deep learning algorithm which is able to detect and classify adverse pregnancy outcomes before parents getting pregnant. We train a multi-layer neural network by using a dataset of 75542 couples’ multidimension pre-pregnancy health data. Our model outperforms some of algorithms in accuracy, recall and F1 score.


Diabetes Care ◽  
2012 ◽  
Vol 35 (3) ◽  
pp. 574-580 ◽  
Author(s):  
L. P. Lowe ◽  
B. E. Metzger ◽  
A. R. Dyer ◽  
J. Lowe ◽  
D. R. McCance ◽  
...  

Diabetes Care ◽  
2012 ◽  
Vol 35 (4) ◽  
pp. 780-786 ◽  
Author(s):  
P. M. Catalano ◽  
H. D. McIntyre ◽  
J. K. Cruickshank ◽  
D. R. McCance ◽  
A. R. Dyer ◽  
...  

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