ABSTRACT
The purpose of this study was to assess the additional contribution of karyotyping compared with genome-wide non-invasive prenatal testing (NIPT) for pregnancies at intermediate risk for trisomy 21 (T21), calculated using the maternal serum screening without major structural anomalies detected through sonography. Karyotype results of all pregnancies undergoing invasive prenatal diagnostic testing between January 2013 and March 2022 were obtained from a large hospital-based laboratory. Pregnancies with no major structural anomalies on ultrasound (including soft markers) and an intermediate risk for T21 on maternal serum screening were included in this study. The additional contribution of karyotyping for abnormal karyotype results was calculated after excluding results that could theoretically be identified with genome-wide NIPT. Among the 511 pregnancies analyzed, 13 (2.54%) were found to have abnormal karyotype results, 9 (1.76%) of which could theoretically have been detected with genome-wide NIPT. Within the cohort, 6/263 (2.28%) of women aged 35 years and older, and 3/248 (1.20%) of women younger than 35 years had results that could have been detected with genome-wide NIPT. After excluding results detectable using genome-wide NIPT, the additional contribution of karyotyping was found as 4/502 (0.79%) for the entire cohort, 2/257 (0.77%) for women aged 35 years and older, 2/245 (0.81%) for women younger than 35 years. Of the 511 examined pregnancies at intermediate risk for T21 by maternal serum screening, genome-wide NIPT would have failed to detect 4 of 13 abnormal karyotype results. The findings hold importance in guiding couples' informed decision-making processes regarding their choice of genetic screening and diagnostic testing in case of intermediate risk for T21.
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PURPOSE: To study retinal and choroidal microcirculation by optical coherence tomography angiography (OCTA) in pregnant women with unexplained recurrent spontaneous abortion (RSA) and to compare them with healthy pregnant and nonpregnant subjects. METHODS: Pregnant women with an unexplained history of RSA (group 1), healthy pregnant (group 2), and healthy non-pregnant women (group 3) were included in the study. After a thorough ophthalmologic examination:best-corrected visual acuity, intraocular pressure,slit-lamp biomicroscopy, fundus examination,autorefractometer, biometry, and axial length measurement; OCT and OCTA measurements were performed with Swept Source OCT-Angiography (Topcon Co, Japan). RESULTS: The nonpregnant group had higher values for central foveal superficial capillary plexus (SCP) and deep capillary plexus (DCP) vessel density (VD) and lower values for superior, inferior, and mean VD compared with pregnant groups (p < 0.001). Choriocapillaris values (CC) VD were higher in groups 1 and 2 than in group 3 (p < 0.001). The group with unexplained RSA had a relatively smaller FAZ (foveal avascular zone) area than the group of healthy pregnant women (p:0.047). There were no statistically significant differences between groups in the retina, retinal nerve fiber layer, ganglion cell layer, and choroidal thickness (p > 0.05). CONCLUSION: Although our study did not identify any etiology in pregnant women with RSA, we observed detectable differences in FAZ area and vessel density values using OCTA, when comparing them with healthy pregnant women and healthy nonpregnant controls. We believe that OCTA, as used in many pathologies such as diabetic and hypertensive retinopathy and retinal vascular occlusion, can also be extended to unexplained RSA both to detect etiology and to monitor treatment in studies with a larger number of patients.
Subject(s)
Abortion, Habitual , Choroid , Retinal Vessels , Tomography, Optical Coherence , Humans , Female , Pregnancy , Tomography, Optical Coherence/methods , Adult , Choroid/blood supply , Choroid/diagnostic imaging , Retinal Vessels/diagnostic imaging , Abortion, Habitual/diagnostic imaging , Fluorescein Angiography/methods , Case-Control Studies , Microvessels/diagnostic imaging , Microcirculation , Young AdultABSTRACT
Hereditary Hemorrhagic Telangiectasia (HHT), commonly known as Osler-Weber-Rendu disease, is an autosomal dominant multisystemic vascular disease associated with approximately 70% of cases of pulmonary arteriovenous malformations (PAVMs). Prenatal cases of PAVMs typically present with pulmonary vein dilatation on ultrasonography. This study presents a prenatal diagnosis of PAVMs with enlarged right pulmonary vein, cardiomegaly, cystic-appearing areas in the right lung and subsequent confirmation of Osler-Weber-Rendu syndrome using autopsy and whole exom sequencing.
Subject(s)
Arteriovenous Malformations , Pulmonary Artery , Pulmonary Veins , Telangiectasia, Hereditary Hemorrhagic , Ultrasonography, Prenatal , Humans , Telangiectasia, Hereditary Hemorrhagic/diagnostic imaging , Telangiectasia, Hereditary Hemorrhagic/complications , Female , Ultrasonography, Prenatal/methods , Pulmonary Veins/abnormalities , Pulmonary Veins/diagnostic imaging , Pregnancy , Adult , Pulmonary Artery/diagnostic imaging , Pulmonary Artery/abnormalities , Arteriovenous Malformations/diagnostic imaging , Infant, Newborn , Arteriovenous FistulaABSTRACT
Background: We compared Pfannenstiel and midline skin incisions for cesarean hysterectomy in women with confirmed Placenta Accreta Spectrum Disorders. Aims: A retrospective cohort study was conducted to evaluate the outcomes of Pfannenstiel and midline skin incisions in women undergoing cesarean section hysterectomy for suspected placenta accreta at Akdeniz University Hospital between January 2010 and February 2022. Histopathological confirmation was obtained for all cases. Demographic, perioperative, and postoperative data, along with neonatal outcomes, were extracted from the hospital's electronic database. Possible complaints related to the incision site or other issues (e.g., vaginal dryness or sexual life) were identified through telephone interviews. Subjects were stratified into Pfannenstiel and midline incision cohorts, with subsequent data comparison. Results: Data from 67 women with a histopathologically confirmed PAS diagnosis were analyzed. Of these, 49 (73.1%) underwent Pfannenstiel incision, and 18 (26.9%) had a midline skin incision. Incisions were based on the surgeon's experience. Pfannenstiel incision was more common in antepartum hemorrhage, preoperative hemorrhage, and emergency surgery (p = 0.02, p = 0.014, p = 0.002, respectively). Hypogastric artery ligation occurred in 30 cases (61.2%) in the Pfannenstiel group but none in the midline group. Cosmetic dissatisfaction and sexual problems were more prevalent in the midline group (p < 0.05, all). Preoperative and postoperative blood parameters, transfused blood products, and neonatal outcomes were similar between the two groups. Conclusions: Relaparotomy, bladder injury, blood loss, and need for blood transfusion were more prevalent in the Pfannenstiel group, while greater dissatisfaction with the incision was observed in the midline incision group. Midline incision seems to be more favorable in patients with Placenta Accreta Spectrum (PAS). Patients may be informed regarding the worse cosmetic outcomes and possible sexual problems related to vaginal dryness when midline laparotomy is planned. But before opting for a Pfannenstiel incision, patients should receive comprehensive information regarding the potential risks of relaparotomy and bladder injury.
Subject(s)
Cesarean Section , Placenta Accreta , Humans , Female , Placenta Accreta/surgery , Retrospective Studies , Pregnancy , Adult , Cesarean Section/adverse effects , Cesarean Section/methods , Hysterectomy/methods , Hysterectomy/adverse effects , Hysterectomy/statistics & numerical data , Treatment Outcome , Cohort Studies , Postoperative Complications/etiologyABSTRACT
Objective: Placental abruption (PA) is an obstetric emergency. This study investigated the use of platelet indices in PA in its early stages to determine if it could aid in diagnosis. Materials and Methods: Sixty-two pregnant women with PA and 130 pregnant women who delivered due to idiopathic preterm delivery were included in this case-control study. Blood samples including platelet indices, biochemical, and coagulation parameters were obtained before cesarean section. Maternal and neonatal outcomes were recorded. Results: There was no significant difference between the groups as to hemoglobin, hematocrit, and white blood count. Platelet, mean platelet volume (MPV), and platelet to lymphocyte ratio (PLR) were significantly lower, platelet distribution width (PDW) was significantly higher in the PA patients. Conclusion: In the current study, MPV and PLR were lower and PDW was higher in PA patients. These parameters may be useful in assessment of PA.
Subject(s)
Abruptio Placentae , Infant, Newborn , Humans , Female , Pregnancy , Abruptio Placentae/diagnosis , Case-Control Studies , Cesarean Section , Placenta , Mean Platelet VolumeABSTRACT
INTRODUCTION: We investigated the effect of epilepsy on cord blood oxidative stress status. MATERIAL AND METHODS: Thirty (n = 30) pregnant women with epilepsy and thirty (n = 30) healthy controls enrolled in this case control study. Albumin and IMA values and dynamic thiol/disulfide parameters were measured. RESULTS: Decreased native thiol and total thiol levels were found in the epilepsy group when compared to the control group (p: 0.001, p: 0.002). Higher IMA (p: 0.036) and lower albumin cord levels (P < 0.001) were measured in the epilepsy group with respect to the control group. Apgar scores at 1 and 5 miutes were lower in the epilepsy group (respectively; p = 0.012, p = 0.010). A negative correlation was found between IMA and cord pH value (r = 0.288 p = 0.034). CONCLUSION: This study showed that epilepsy may alter thiol disulfide homeostasis and IMA levels.
Subject(s)
Epilepsy , Fetal Blood , Biomarkers , Case-Control Studies , Disulfides , Female , Fetal Blood/metabolism , Humans , Oxidative Stress , Pregnancy , Serum Albumin, Human/metabolism , Sulfhydryl CompoundsABSTRACT
AIM: In this study, we aimed to investigate the soluble endoglin (sEng) levels in pregnant women with fetal growth restriction (FGR) and to examine the possible relation of the sEng levels with the time remaining to delivery and maternal and fetal complications. METHODS: A total of 42 pregnant women diagnosed with FGR were retrospectively reviewed. Using the maternal blood samples it is at the collected 24-37 gestational weeks, the sEng levels were measured. Fetal biometry measurements, umbilical artery, uterine artery, middle cerebral artery Doppler indices were documented. RESULTS: Of all patients, 17 (40%) were diagnosed with early-onset FGR, while 25 (60%) were diagnosed with late-onset FGR. Abnormal Doppler findings were present in 25 (60%) patients. Of 42 newborns, 18 (42%) were hospitalised in the neonatal unit. The mean sEng level calculated by taking the average of the first and second blood samples was 63.24 ± 49.83 ng/mL. There was no statistically significant difference in the mean sEng levels between those who gave birth within four, three, and two weeks after the diagnosis of FGR and those who did not. There was a positive significant correlation between the mean sEng levels and systolic blood pressure (r = 0.319, P = .04). CONCLUSIONS: We did not find a statistically significant relationship between the sEng level and the time remaining to the time of delivery in pregnant women with FGR. We found no statistically significant difference in sEng level between the groups in pregnant women with fetuses with FGR with or without maternal and fetal complications.
Subject(s)
Fetal Growth Retardation , Umbilical Arteries , Endoglin , Female , Fetal Growth Retardation/diagnosis , Humans , Infant, Newborn , Pregnancy , Retrospective Studies , Risk AssessmentABSTRACT
OBJECTIVE: Post-traumatic stress disorder, the tip form of stress disorder, is considered as delayed onset if the symptoms occur at least 6 months after the main effect. The aim of our study was to evaluate the severity of anxiety and depression in pregnant women during the coronavirus disease (COVID-19) pandemic, in addition to investigating the demographic and economic aspects affecting maternal anxiety and depression scores, 6 months after the onset of the COVID-19 pandemic. METHODS: Our study was a cross-sectional descriptive study. Pregnant women who had presented to the Akdeniz University, Gynecology and Obstetrics Department, Pregnancy Outpatient Clinic, and Kepez State Hospital, Pregnancy Outpatient Clinic between September 2020 and October 2020 were included in the study. The Spielberger State-Trait Anxiety Inventory (STAI) was used to evaluate the state of anxiety, and the Beck Depression Inventory-II (BDI-II) was used to assess the state of depression. Patients who had encountered any obstetric and/or fetal abnormality that could cause anxiety and depression during pregnancy follow-up and pregnant women previously diagnosed with a psychiatric disease were not included in the study. RESULTS: A total of 322 pregnant women who agreed to participate in the study and fulfilled the study criteria within the afore-mentioned timeframe were included in the study and the relevant forms were filled out. The mean age of the pregnant women was found to be 29 ± 5.64 years, the mean number of gravida was 1.84 ± 0.86, and the mean gestational age was 29.06 ± 9.80 weeks. The mean score of the state anxiety scale was 41.7 ± 5.56 and the mean trait anxiety score was 47.68 ± 5.85. The mean state-trait anxiety score was determined as 42.5 in primigravid women and as 41.1 in multigravid women. The State-trait anxiety score was statistically significantly higher in primigravid women compared to multigravid women (p = 0.027). The mean state-trait anxiety score did not demonstrate a significant difference according to the occupational status, having a chronic disease, educational level, and the income level. The mean trait anxiety score did not differ statistically and significantly according to the occupational status, having a chronic disease, being primigravid, educational status, and the income level. According to BDI-II, 69.3% of pregnant women were evaluated to have minimal depression, 12.4% as mild depression, 12.4% as moderate depression, and 5.9% as severe depression. CONCLUSION: Although more than 6 months have passed since the onset of the COVID-19 pandemic, pregnant women still have increased anxiety and depression scores. In addition, it should be kept in mind that pregnant women are at risk in terms of post-traumatic stress disorder during the antenatal and the postnatal periods, and it should be considered that psychological and social support should be provided.
Subject(s)
COVID-19 , Pandemics , Adult , Anxiety/diagnosis , Anxiety/epidemiology , Cross-Sectional Studies , Depression/diagnosis , Depression/epidemiology , Female , Humans , Infant , Pregnancy , Pregnant Women , SARS-CoV-2 , Stress, Psychological , Young AdultABSTRACT
BACKGROUND: Preeclampsia (PE) may represent an inflammatory process. Endocan (ESM-1) is a marker of endothelial inflammation. We compared plasma endocan levels between PE and control groups and between early and late-onset PE. Study design: Maternal plasma endocan levels were measured in 41 preeclampsia (PE) pregnancies - 25 early-onset (<34 weeks); 16 late-onset (≥34 weeks), and 37 non-complicated pregnancies (22 matched with early-onset PE, 15 with late onset). Results: There was no significant differences between plasma endocan levels of patients with PE and control group (468.8(IQR: 169.7)ng/L vs 462.4(IQR: 321.1)ng/L, p > 0.05), between early and late-onset PE (458.8(221.8)ng/L vs 469.8(122.6)ng/L, p > 0.05), between early-onset PE and corresponding control group (458.8(221.8)ng/L vs 506.2(1481.9)ng/L, p > 0.05), or late-onset PE and corresponding control group (469.8(122.6)ng/L vs 451.0(85.1)ng/L, p > 0.05). Conclusion: There was no significant difference between endocan levels of early or late-onset PE compared with their corresponding control groups, nor between early and late-onset preeclampsia groups.
Subject(s)
Pre-Eclampsia , Biomarkers , Case-Control Studies , Female , Humans , Pregnancy , Severity of Illness IndexABSTRACT
AIM: Intrahepatic cholestasis of pregnancy (ICP) is a unique hepatic disorder of pregnancy and is related to adverse maternal and perinatal outcomes. The pathogenesis of the disease is not clear and appears to be multifactorial. There is increasing evidence that vitamin D (Vit D) plays a role in hepatobiliary homeostasis and in various liver diseases. We aimed to investigate the association between serum Vit D level and ICP. METHODS: A total of 40 pregnant women with ICP and 40 healthy pregnant women were included in this controlled cross-sectional study. Their demographic characteristics, including age, body mass index (BMI), gestational week, gravidity and parity, and laboratory parameters, including 25(OH) Vit D3 levels, liver function tests, fasting and postprandial bile acid concentrations, were recorded. Gestational age at delivery, birth weight (BW), neonatal intensive care unit (NICU) admission, meconium staining of amniotic fluid and appearance pulse grimace activity respiration (APGAR) score at 5 min were obtained from medical records for assessment of perinatal outcomes. RESULTS: There was no significant difference between groups in terms of demographic characteristics. The mean serum 25(OH) Vit D3 level was significantly lower in pregnant women with ICP compared to control pregnant women (8.6 ± 4.9, 11.3 ± 6.1; P =0.033), and it was significantly lower in severe disease than mild disease (6.9 ± 2.1, 10.3 ± 6.2, respectively; P =0.029). We also found that lower serum 25(OH) Vit D3 levels were significantly and inversely correlated with fasting and postprandial bile acid levels. However, in subgroup analyses in ICP pregnant women, there was no difference in mean 25(OH) Vit D3 levels for women with or without perinatal complications. CONCLUSION: Our study suggests that low levels of 25(OH) Vit D3 were associated with ICP disease and its severity. However, further larger studies are needed to evaluate the effect of Vit D in the pathogenesis and outcome of the disease.
Subject(s)
Cholestasis, Intrahepatic/blood , Hydroxycholecalciferols/blood , Pregnancy Complications/blood , Adult , Cross-Sectional Studies , Female , Humans , Pregnancy , Young AdultABSTRACT
AIM: Fetal cardiac left ventricular function in pregnant women with pregestational or gestational diabetes mellitus was investigated by exploring fetal myocardial performance index (MPI) and E wave/A wave peak velocity (E/A) ratio. METHODS: Seventy pregnant women with either pregestational or gestational diabetes mellitus and with no other systemic or pregnancy related disorders were compared with 70 gestational age matched healthy controls by means of fetal left ventricular MPI and E/A ratio. Opening and closing clicks of the mitral and aortic valves were used to define the three time periods: ejection time (ET), isovolumetric contraction time (ICT) and isovolumetric relaxation time (IRT), which were employed in the calculation of MPI (MPI = [ICT + IRT]/ET). Statistical analyses were conducted using receiver operating characteristic analysis and independent two-sample t, Mann-Whitney U and chi-square tests. RESULTS: Fetal left ventricular MPI values were significantly higher in the diabetic group compared with controls (0.56 ± 0.09 vs 0.36 ± 0.04, P < 0.001), whereas E/A ratio was lower (0.66 ± 0.11 vs 0.69 ± 0.09, P = 0.049). The adverse perinatal outcome rate was also higher in the diabetic group. Receiver operating characteristic analysis revealed > 0.39 as the optimal cut-off level for MPI in perinatal adverse outcome prediction (sensitivity: 90.9%, specificity: 47.7%, area under the curve: 0.690, 95% confidence interval: 0.598-0.782, P < 0.001). CONCLUSIONS: We conclude that fetuses of diabetic mothers have significant left ventricular systolic and diastolic dysfunction. MPI may be used in the prediction of adverse perinatal outcome in diabetic pregnancies.
Subject(s)
Diabetes Complications/embryology , Diabetes, Gestational/physiopathology , Fetal Heart/physiopathology , Adult , Diabetes Complications/physiopathology , Echocardiography, Doppler , Female , Fetal Heart/diagnostic imaging , Gestational Age , Humans , Myocardial Contraction , Pregnancy , Ultrasonography, Prenatal , Ventricular Function, LeftABSTRACT
AIM: Behçet's disease (BD) is a rare and multisystemic vasculitis disease. In this study, we investigated whether BD had any effect on the biochemical components of first and second trimester aneuploidy screening tests. METHODS: A case-control retrospective study was conducted with 32 pregnant women with BD and 60 healthy pregnant women as controls. All pregnant womens' first trimester maternal serum pregnancy-associated plasma protein-A, free ß-human chorionic gonadotropin and second trimester serum alpha-fetoprotein, unconjugated estriol and total human chorionic gonadotropin levels were examined from medical records. First and second serum screening markers were compared between pregnancies with BD and without. RESULTS: There was no difference in age, body mass index and obstetric history between the groups. No significant difference was observed between the groups in terms of first and second trimester serum screening test results in the absence of aneuploidy or neural tube defect. Gestational age at birth, birth weight and neonatal intensive care admission rate were also similar between the groups. CONCLUSION: Both first and second serum screening tests for Down syndrome may be recommended to pregnant women with BD without the need to readjust these markers. Pregnancy with BD was not associated with adverse perinatal outcome with respect to gestational age at birth or birth weight.
Subject(s)
Behcet Syndrome/blood , Behcet Syndrome/complications , Prenatal Diagnosis , Adult , Aneuploidy , Biomarkers/blood , Female , Genetic Testing , Humans , Pregnancy , Pregnancy Trimester, First/blood , Pregnancy Trimester, Second/blood , Retrospective Studies , Young AdultABSTRACT
AIM: To evaluate the relationship between idiopathic recurrent pregnancy loss (RPL) and oxidative stress (OS) by means of thiol/disulfide homeostasis via a novel technique. METHODS: Thirty-nine pregnant women diagnosed with idiopathic RPL were compared with 50 healthy pregnant women without a history of abortion. Idiopathic RPL was defined as experiencing two or more consecutive miscarriages prior to 20 weeks of gestation with the presence of normal karyotypes of couple and/or abortus materials, negative maternal screening for anticardiolipin, anti ß 2 glycoprotein antibodies and lupus anticoagulant, normal thyroid stimulating hormone, prolactin and hemoglobin A1C levels and normal pelvic sonography and/or hysterosalpingography. A new and fully automated method was used to measure plasma native thiol, total thiol and disulfide levels, based on the reduction of dynamic disulfide bonds to functional thiol groups by sodium borohydrate. RESULTS: Women with idiopathic RPL had significantly lower plasma levels of native thiol (341.89 ± 50.0 µmol/L vs. 390.84 ± 38.5 µmol/L, P < 0.001) and total thiol (386.18 ± 51.7 µmol/L vs. 435.78 ± 42.3 µmol/L, P < 0.001). Disulfide/thiol and disulfide/total thiol ratios were significantly higher in the study group. The native thiol/total thiol ratio was significantly lower in patients with idiopathic RPL. No difference was measured in disulfide, albumin and total protein plasma levels. CONCLUSIONS: The main outcome of our study indicates a relation between idiopathic RPL and OS. More importantly, the new method used in our study proposes a promising, practical and daily applicable test for evaluating patients with idiopathic RPL.
Subject(s)
Abortion, Habitual/blood , Disulfides/blood , Oxidative Stress , Sulfhydryl Compounds/blood , Adult , Borohydrides/metabolism , Female , Homeostasis , Humans , Pregnancy , Young AdultABSTRACT
The present study aimed to analyse the perinatal outcomes in patients with normal 50-g Glucose Challenge Test but who are considered retrospectively to have gestational diabetes mellitus based on elevated fasting plasma glucose (FPG) levels according to recent criteria. The study was conducted between January 2010 and December 2014 to identify patients with FPG values >92 mg/dl and GCT values <130 mg/dl. The patients were divided into two groups: those with FPG values between 92 and 99 mg/dl (Group 1) and those with FPG values >99 mg/dl (Group 2). The rate of obstetric complications was similar in the three groups, except for a higher rate of preeclampsia in Group 2 than in the control group (8.3% versus 3.1%; p = 0.031). The rate of large for gestational age neonates in Group 2 was 15%, which was higher than the rate in Group 1 (5.5%) and control group (7.4%) (p = 0.046 and p = 0.047, respectively). The rate of neonatal intensive care unit admissions in Group 2 was 11.7%, which was higher than the rate in Group 1 (3.1%) and in the control group (2.4%). Our findings indicate that there is a clinically recognisable difference in perinatal outcomes when a threshold of 100 mg/dl is used for FPG instead of 92 mg/dl.
Subject(s)
Blood Glucose , Diabetes, Gestational , Glucose Tolerance Test , Adult , Blood Glucose/analysis , Blood Glucose/metabolism , Case-Control Studies , Diabetes, Gestational/blood , Diabetes, Gestational/diagnosis , Diabetes, Gestational/epidemiology , Female , Gestational Age , Glucose Tolerance Test/methods , Glucose Tolerance Test/standards , Humans , Infant, Newborn , Intensive Care Units, Neonatal/statistics & numerical data , Obstetric Labor Complications/blood , Obstetric Labor Complications/diagnosis , Obstetric Labor Complications/etiology , Outcome and Process Assessment, Health Care , Perinatal Care/methods , Perinatal Care/statistics & numerical data , Pregnancy , Pregnancy Outcome , Turkey/epidemiologyABSTRACT
Small deletions on the long arm of distal chromosome 4 do not appear to result in gross congenital malformations, with the most frequently reported clinical findings including mild to moderate intellectual disability, learning disabilities and minor dysmorphic features. Here we report on a cytogenetically detectable familial interstitial chromosome 4 long arm deletion with no discernible phenotypic effects in a mother and her two daughters. The karyotypes of the mother and her two daughters were: 46,XX,del(4)(q35.1q35.2). Based on the results of FISH analyses using whole chromosome specific and subtelomeric probes, the karyotype was designated as: 46,XX,del(4)(q35.1q35.2). ish del(4)(q35-qter)(WCP4+, 36P21+, dJ963K6-). Array-CGH analysis showed an interstitial deletion encompassing 5.75 Mb in the 4q35.1-q35.2 genomic region (chr4:184,717,878-190,469,337; hg19). This is the first report on a cytogenetically detectable familial interstitial chromosome 4 long arm deletion in which there are no discernible phenotypic effects. Both our findings and a review of the literature suggest that more detailed molecular analyses are needed in cases with distal chromosome 4 long arm deletions especially those with breakpoints in the 4q35 region to establish a more precise genotype-phenotype correlation.
Subject(s)
Chromosome Deletion , Chromosomes, Human, Pair 4 , Comparative Genomic Hybridization , Humans , In Situ Hybridization, FluorescenceABSTRACT
BACKGROUND: We reported pregnancy outcomes after kidney transplantation in a single transplant center. METHODS: We reviewed the perinatal outcomes of female kidney transplant patients of reproductive age (18-40 years) from 1987 to 2011. RESULTS: A total of 246 patients were reviewed. Of these, 43 women registered a pregnancy following kidney transplantation. The mean patient age was 31.3 ± 4.2 years (range 24-40). The mean transplant-conception interval was 35.9 ± 12.6 months (range 24-120); 9 patients had a cadaveric allograft. The human leukocyte antigen match was ≥3/6 for 34 patients. The rate of live births was 29/43 (67.4%), miscarriage 10/43 (23.2%), preterm delivery 7/29 (24.1%), preeclampsia 5/29 (17.2%), and intrauterine growth retardation 2/29 (6.9%). Overall, 3/29 patients (10.3%) received a blood transfusion during pregnancy due to persistent symptomatic anemia, despite iron replacement and erythropoietin therapy; 24 patients (82%) had a cesarean section delivery; 3 patients had kidney rejection during pregnancy, with 2 occurring during the 6th postpartum month. CONCLUSION: Pregnancy should be considered a high risk in renal transplant recipients, necessitating close follow-up.
Subject(s)
Kidney Transplantation , Pregnancy Outcome , Abortion, Spontaneous/epidemiology , Adult , Birth Weight , Blood Transfusion/statistics & numerical data , Cesarean Section/statistics & numerical data , Female , Fetal Growth Retardation/epidemiology , Gestational Age , Graft Rejection/epidemiology , Humans , Immunosuppression Therapy , Infant, Newborn , Kidney Failure, Chronic/etiology , Kidney Failure, Chronic/surgery , Live Birth/epidemiology , Parity , Pre-Eclampsia/epidemiology , Pregnancy , Pregnancy Complications/immunology , Pregnancy Outcome/epidemiology , Pregnancy, High-Risk , Premature Birth/epidemiology , Retrospective StudiesABSTRACT
Skeletal dysplasias (SDs) constitute a group of heterogeneous disorders affecting growth morphology of the chondro-osseous tissues. Prenatal diagnosis of SD is a considerable clinical challenge due to phenotypic variability. We performed a retrospective analysis of the fetal autopsies series conducted between January 2006 and December 2012 at our center. SD was detected in 54 (10%) out of 542 fetal autopsy cases which included; 11.1% thanatophoric dysplasia (n = 6), 7.4% achondroplasia (n = 4), 3.7% osteogenesis imperfect (n = 2), 1.9% Jarcho-Levin Syndrome (n = 1), 1.9% arthrogryposis (n = 1), 1.9% Dyggve-Melchior-Clausen syndrome (n = 1), 72.1% of dysostosis cases (n = 39). All SD cases were diagnosed by ultrasonography. In 20 of the cases, amniocentesis was performed, 4 cases underwent molecular genetic analyses. Antenatal identification of dysplasia is important in the management of pregnancy and in genetic counseling. Our data analysis showed that SD is usually detected clinically after the 20th gestational week. Genetic analyses for SD may provide early diagnosis and management.
Subject(s)
Bone Diseases, Developmental/pathology , Abnormalities, Multiple/epidemiology , Abnormalities, Multiple/genetics , Abnormalities, Multiple/pathology , Autopsy , Bone Diseases, Developmental/diagnostic imaging , Bone Diseases, Developmental/genetics , Bone and Bones/abnormalities , Female , Fetal Diseases , Humans , Male , Pregnancy , Radiography , Retrospective StudiesABSTRACT
OBJECTIVE: To compare the pre-procedural anxiety and depression levels of patients undergoing chorion villus sampling (CVS) and amniocentesis (AC). METHODS: Patients referred to our department for fetal karyotype analysis with a positive first or second trimester screening test for aneuploidy between January 2013 to June 2015 were included. CVS and AC procedures were performed in patients with gestation periods of between 11-14 and 16-20 weeks, respectively. Anxiety was evaluated using the Spielberger State-Trait Anxiety Inventory (STAI), and depression was assessed using the Beck Depression Inventory II (BDI-II). RESULTS: A total of 1,400 patients were included. Compared to first trimester controls, patients undergoing CVS had significantly higher STAI-state and BDI-II results. Likewise, patients undergoing AC had higher STAI-state and BDI-II scores than controls in the second trimester. In terms of STAI-trait results, no difference was found between the groups. Our results also showed that, compared to AC group, patients undergoing CVS had similar STAI-state, STAI-trait and but higher BDI-II scores. CONCLUSION: We conclude that evaluating the stress and depression levels of these patients should be one of the routine procedures in pregnancy follow-up.
ABSTRACT
OBJECTIVE: To evaluate the association between the brain-sparing situation and perinatal outcomes in fetuses with early-onset fetal growth restriction (EO-FGR) with absent or reverse end-diastolic flow in the umbilical artery (UA A/REDF). METHODS: We evaluated fetuses with EO-FGR who had patterns of UA A/REDF without abnormal venous Doppler indices. Participants were divided into two groups according to measurements of mid-cerebral artery pulsatility index (MCA PI) just before delivery. Group 1 (n = 45) included those with a brain-sparing effect (BSE) (a MCA PI <5th percentile for the gestational age) and group 2 (n = 14) included those with a disappearing BSE, defined as an MCA PI increase towards normal values after the BSE detected at the initial evaluation. Short-term perinatal outcomes were analyzed. RESULTS: Compared to group 1, group 2 had a significantly low birth weight (p = 0.018) and high rates of extended neonatal intensive care unit hospitalization (p = 0.049 respectively). CONCLUSION: On the basis of longitudinal measurements of MCA PI, increases after the reduction <5th percentile might be related to poor perinatal outcomes in fetuses with EO-FGR who had UA A/REDF without abnormal venous flow patterns.
Subject(s)
Brain/blood supply , Fetal Growth Retardation/diagnostic imaging , Fetus/blood supply , Middle Cerebral Artery/diagnostic imaging , Umbilical Arteries/diagnostic imaging , Adult , Female , Gestational Age , Humans , Infant, Newborn , Male , Pregnancy , Pregnancy Outcome , Ultrasonography, Prenatal , Young AdultABSTRACT
OBJECTIVES AND BACKGROUND: According to studies, 1% of all pregnancies have an abnormality, with 20-30% of those affecting the genitourinary system. Congenital abnormalities of the kidney and urinary tract (CAKUT) is one of the primary causes of perinatal and neonatal mortality in children. Many extra-renal congenital illnesses accompany these defects, affecting the patient's prognosis. This study aims to determine the subtypes, frequency, and extra-renal defects associated with congenital anomalies of the urinary system, which is the major cause of mortality in fetal and infant autopsies throughout the perinatal and neonatal eras. We believe that our study will contribute to the literature because few autopsy investigations can give this data. MATERIALS AND METHODS: The study included 110 fetal autopsies between January 1997 and May 2019. 10% were newborns under the age of one year, and 90% were fetus autopsies. RESULTS: Males accounted for 67.3% of the cases, while females accounted for 35 (31.8%) (the gender of one case could not be determined). Renal dysplasia was the most frequent CAKUT, with a rate of 22.73%, followed by renal agenesis, with a rate of 20.0%. Eighty-four cases (76.3%) showed disease in at least one other organ system. Musculoskeletal system (MSS) abnormalities were the most common associated system anomaly, with one or more MSS anomalies (34.55%) detected in 38 cases. CONCLUSION: Finally, we want to underline that CAKUT and its associated anomalies are not uncommon. Prenatal imaging, genetic investigation, and/or postmortem examination should all be used to screen for CAKUT. This information is helpful for the mother's future pregnancy management and parental genetic counseling.