يعرض 1 - 10 نتائج من 30 نتيجة بحث عن '"Fetal karyotype"', وقت الاستعلام: 1.09s تنقيح النتائج
  1. 1
    دورية أكاديمية

    المصدر: Journal of Family and Reproductive Health, Vol 14, Iss 3 (2020)

    الوصف: Objective: The presence of a normal fetus with normal karyotype accompanied by molar changes in the placenta is a rare condition, which carries a significant risk to the mother and fetus. There is a controversy regarding the proper management of this condition. Here, we present the case of a singleton pregnancy that showed molar changes in the pathological study of the placenta, but ended up with a normal viable neonate. Case Report: A 23-year-old primigravida woman, with a 3-year history of infertility, presented with vaginal bleeding and spotting. Her ß-human chorionic gonadotropin (HCG) at 13th week was 36500 mIU/ml. Serial sonography assessments were suggestive for molar changes and a normal fetus with growth retardation but normal Doppler assessment. The patient underwent elective Cesarean section at 37 weeks gestation and a healthy female neonate with an Apgar score of 9-10, weighing 2270 g was born. Pathological assessment of the placenta confirmed the diagnosis of incomplete hydatidiform mole. After two months, the mother had no complications, her ß-HCG level was untraceable, and the infant was in good condition. Conclusion: Despite being a rare condition, partial moles can be accompanied by delivery of a normal fetus. The management of this condition still remains challenging and should be done under close monitoring with extreme caution.

    وصف الملف: electronic resource

  2. 2
    دورية أكاديمية

    المؤلفون: T. B. Tretyakova, N. S. Demchenko

    المصدر: Акушерство, гинекология и репродукция, Vol 12, Iss 1, Pp 42-52 (2018)

    الوصف: Aim: to analyze the polymorphic genes of folate metabolism in women with history of non-developing pregnancy and in their embryos/fetuses in order to relate the genetic polymorphism with the risk of early pregnancy loss.Materials and methods. The main group consisted of 117 women with non-developing 1st trimester pregnancy; the comparison group included 117 women with no history of miscarriage, with physiological 1st trimester pregnancy and a normal fetal karyotype. By polymerase chain reaction in real time using DT-96 machine («DNA-technology», Russia) all women and embryos were analyzed for the following polymorphic variants: MTHFR 677 C>T, MTHFR 1298 A>C, MTRR 66 A>G, MTR 2756 A>G.Results. The women with non-developing pregnancy and chromosomal abnormalities of the fetus had a significantly higher occurrence of the MTR 2756G allele in comparison with women with non-developing pregnancy and a normal karyotype of the fetus.Conclusion. The 2756G allele of the polymorphic MTR 2756 A>G gene in women with non-developing pregnancy is associated with a chromosomal imbalance of their fetuses.

    وصف الملف: electronic resource

  3. 3
    دورية أكاديمية

    المصدر: Journal of Ultrasonography, Vol 13, Iss 52, Pp 21-30 (2013)

    الوصف: Introduction: Numerous papers have proven that an increased nuchal translucency is connected with a raised risk of chromosomal aberrations, but few analyses are related to the further state of fetuses with a normal karyotype. The aim of the study was to estimate the risk of cardiac defects and other developmental disorders in fetuses with increased nuchal translucency and normal findings of a standard cytogenetic examination. Methods: The authors carried out a retrospective analysis of 5183 examinations of 3376 patients who reported to the Department of Diagnosis and Prophylaxis of Congenital Malformations in the Polish Mother’s Memorial Hospital in Łódź in the period from January 2008 to March 2011 for prenatal ultrasound and echocardiographic examinations. The authors analyzed the results of the examinations performed in the second and third trimesters of gestation in fetuses with an increased nuchal translucency of ≥3 mm in the first trimester and with a normal karyotype. Results: Fifty-seven patients (1.7% of the examined group) fulfilled the criteria necessary to be included in the study. In 31 pregnant women (54%) structural defects or anomalies of the fetus were found. Cardiac anomalies were detected in 17 fetuses (29.8%). The authors detected various types of cardiac defects such as tetralogy of Fallot, ventricular septal defect, atrioventricular septal defect, transposition of the great arteries and hypoplastic left heart syndrome. Conclusions: In more than half of the fetuses with an increased nuchal translucency (NT≥3 mm) and a normal karyotype, developmental defects of various organs appeared in the further course of pregnancy: mainly heart defects that were either isolated, or accompanied other anomalies.

    وصف الملف: electronic resource

  4. 4
    دورية أكاديمية

    المصدر: Gynecology Obstetrics & Reproductive Medicine, Vol 21, Iss 3 (2016)

    الوصف: OBJECTIVE: Evaluation of indications, methods and results of prenatal diagnostic invasive procedures performed in our clinic in a four-year process and interpretation of relations between them. STUDY DESIGN: In this study 553 patients were examined retrospectively, who were undergone prenatal invasive procedures in our clinic for determination of fetal karyotype. Demographic distribution of the patients, indications for tests and results were examined, complications were evaluated depending on the procedure. RESULTS: A total of 41 abnormal karyotype pregnancies detected, the most common abnormal karyotype was trisomy 21 and most of abnormal karyotypes were detected in patients who undergone invasive diagnostic tests due to abnormal ultrasound findings. Abortion is resulted at two patients. CONCLUSION: Although non-invasive prenatal diagnosis is more accessible today and has become more preferable, prenatal invasive diagnosing still remains its importance in prenatal diagnosis. Especially in the cases with presence of abnormal ultrasound findings, invasive prenatal diagnosis should be the primary diagnostic method.

    وصف الملف: electronic resource

  5. 5
    دورية أكاديمية

    الوصف: Hydatidiform mole is part of a group of diseases classified as gestational trophoblastic disease, which results from an aberrant fertilization. They are associated with an increase risk for the development of neoplasm, specifically choriocarcinoma, a malignant tumor that has a potential to locally invade the uterus and metastasize. Traditionally, moles have been categorized into complete or partial hydatidiform moles. Partial moles are most commonly triploid and are associated with the presence of a malformed fetus. Often partial moles are misdiagnosed as an incomplete or missed abortion of the first trimester. A case of a partial molar pregnancy with live fetus diagnosed on second trimester is reported. Hyperemesis gravidarum and hyperthyroidism were the clinical presentations. Human chorionic gonadotropin level was 1 891 264 mIU/mL. Fetal karyotype was 69, XXX. Surgical uterine evacuation was performed and the patient is in follow up. Partial molar pregnancy with a live fetus is a rare condition that presents a challenging diagnosis, particularly when it is detected during the second trimester of pregnancy ; info:eu-repo/semantics/publishedVersion

    وصف الملف: application/pdf

    العلاقة: https://www.ommegaonline.org/article-details/Partial-molar-pregnancy-with-live-fetus-diagnosed-on-second-trimester-a-case-report/1475Test; Angela S., et al. Partial Molar Pregnancy with Live Fetus Diagnosed on Second Trimester: A Case Report. (2017) J Gynecol Neonatal Biol 3(2): 1- 4; http://hdl.handle.net/1822/50606Test

  6. 6
    دورية أكاديمية

    المصدر: Journal of Clinical and Diagnostic Research, Vol 9, Iss 8, Pp QD01-QD02 (2015)

    مصطلحات موضوعية: β-hcg, fetal karyotype, multicystic placenta, Medicine

    الوصف: Sad fetus syndrome comprising of a live twin gestation with a hydatidiform mole is a rare entity. The condition is even rarer when the co-existing live fetus is associated with a partial mole than a complete mole. We report the case of a 24-year-old G2 P1 L1 at 28 weeks gestation who presented to our casualty in the second stage of labour. She had a previous ultrasound scan at 13 weeks which showed a live fetus with a focal area of multicystic placenta. She delivered an alive preterm male fetus weighing 1.32 kg vaginally. Following expulsion of normal placenta of the live fetus, partial mole was expelled. The fetus was admitted to neonatal ICU and discharged after two weeks. Soon after delivery, β-hCG (human chorionic gonadotropin) was 1,21,993 mIU/ml which decreased to 30mIU/ml within two weeks. The patient was discharged with advice of regular follow up of β-hCG reports.

    وصف الملف: electronic resource

  7. 7

    المصدر: Perinatologiâ i Pediatriâ, Iss 2(78), Pp 7-12 (2019)

    الوصف: Purpose — to analyze results of complex prenatal examination of high risk pregnant women with gastroschisis in the fetus. Patients and methods. A retrospective analysis of data on ultrasound examinations and karyotyping of 152 fetuses as patients with gastroschisis in the Department of Fetal Medicine in 2007–2018. Results. The mean age of women was 22.6±4.35 years (range 15–35), 73.68% of them were less than 25 years old. Mean term of patients' primary referral was 23.8±7.0 weeks, the proportion of patients referred before 22 weeks of pregnancy was 53.3%. Isolated gastroschisis, without pathology of other systems and organ, was diagnosed in 87.5% of fetuses. Associated malformations were found in 12.5% of cases: structural anomalies of heart, urinary tract, musculoskeletal system, cleft lip and palate, inguinal hernia. Fetal karyotype was obtained in 83 cases (54.6%). Small for gestational age were 40.1% of fetuses with gastroschisis, polyhydramnios was present in 8.6% and olygohydramnios in 18.4% of cases. Fetal death was diagnosed in 3 cases (1.97%) in II trimester. Conclusions. The mean term of primary referral of patients with fetal gastroschisis was unsatisfactory for timely complete examination, follow-up in dynamics, and planning the management of pregnancy. Growth restriction and olygohydramnios were the most common complications in fetuses with gastroschisis. The rate of associated structural anomalies in fetuses with gastroschisis was low, but later manifestation of some malformations is possible.

  8. 8

    المصدر: Journal of Family and Reproductive Health, Vol 14, Iss 3 (2020)
    Journal of Family & Reproductive Health

    الوصف: Objective: The presence of a normal fetus with normal karyotype accompanied by molar changes in the placenta is a rare condition, which carries a significant risk to the mother and fetus. There is a controversy regarding the proper management of this condition. Here, we present the case of a singleton pregnancy that showed molar changes in the pathological study of the placenta, but ended up with a normal viable neonate. Case Report: A 23-year-old primigravida woman, with a 3-year history of infertility, presented with vaginal bleeding and spotting. Her ß-human chorionic gonadotropin (HCG) at 13th week was 36500 mIU/ml. Serial sonography assessments were suggestive for molar changes and a normal fetus with growth retardation but normal Doppler assessment. The patient underwent elective Cesarean section at 37 weeks gestation and a healthy female neonate with an Apgar score of 9-10, weighing 2270 g was born. Pathological assessment of the placenta confirmed the diagnosis of incomplete hydatidiform mole. After two months, the mother had no complications, her ß-HCG level was untraceable, and the infant was in good condition. Conclusion: Despite being a rare condition, partial moles can be accompanied by delivery of a normal fetus. The management of this condition still remains challenging and should be done under close monitoring with extreme caution.

  9. 9

    المؤلفون: George, Lena

    المساهمون: Karolinska Institutet, Department of Medical Epidemiology and Biostatistics, Publisher, Karolinska Institutet, Institutionen för medicinsk epidemiologi och biostatistik, Publisher

    الوصف: The overall objectives of this thesis were to increase the understanding of the etiology of spontaneous abortion and repeated spontaneous abortion, and to evaluate possibilities of exposure assessment during pregnancy.Data from a Swedish population-based case-control study of spontaneous abortion, performed in Uppsala County 1996-98, formed the base for the three first studies of the thesis. The final study population included 562 cases with a spontaneous abortion in gestational week 6-12 and 1,028 pregnant controls frequency-matched to the cases according to week of gestation. Exposure information was assessed through in-person interviews using structured questionnaires, and through plasma measurements of folate and cotinine levels. Intrauterine tissue was sent for chromosomal analyses among cases with incomplete spontaneous abortion. Conditional logistic regression models were used to calculate odds ratios to estimate the relative risk of spontaneous abortion.Women with folate levels <5 nmo/l were at 60% increased risk of spontaneous abortion as compared with women with folate levels 5.0-8.9 nmol/1. High maternal folate levels were associated with a non-significant trend towards a protective effect. Folate deficiency was predominantly associated with abnormal fetal karyotype, however we could not show a differential effect of folate between normal and abnormal fetal karyotype abortions. The use of a folic acid supplement, reported by <5% of all women, was not associated with a statistically significant increased risk of spontaneous abortion.The association between sociodemographic and anthropometric factors, obstetric history, and life style factors, with respect to risks of repeated spontaneous abortion, were explored among 108 cases with two or more consecutive first trimester spontaneous abortions and 583 controls with at least two pregnancies. High and low maternal age, and previous spontaneous abortions were found to be major risk factors. Smokers were at increased risk of repeated spontaneous abortion. Among nonsmoking women with high caffeine intake there was an increased risk, whereas there was no such association among smokers. Folate deficiency was not associated with increased risk of repeated spontaneous abortion.Measurement of plasma cotinine was used to assess the dose received from exposure to environmental tobacco smoke (ETS) and active smoking. The prevalence of ETS exposure (cotinine 0.1-15 ng/ml) was 24% among women with spontaneous abortion and 19% among women with a normal pregnancy in the first trimester. Nonsmoking pregnant women exposed to ETS faced a 70% increased risk of spontaneous abortion as compared with unexposed women. Active smoking was associated with a more than two-fold increased risk of spontaneous abortion. ETS exposure was associated with normal, abnormal, and unknown fetal karyotype abortions.In a prospective follow-up of 953 women from early pregnancy until delivery, maternal selfreported information on active smoking, smoking cessation during pregnancy, and ETS exposure during pregnancy, was validated using cotinine measurements as gold standard. Sensitivity, specificity, positive and negative predictive values, and likelihood ratios were calculated as measures of accuracy in gestational weeks 6-12 and 31-34. The validity of selfreported active smoking in early and late pregnancy was reasonably high. Among women reporting smoking cessation before the first interview and between the first and second interview, 13% and 25% misreported active smoking, respectively. Self-reported information on ETS exposure misclassified most women as unexposed throughout the pregnancy.

    وصف الملف: electronic

    الوصول الحر: http://hdl.handle.net/10616/39362Test

  10. 10
    دورية أكاديمية

    مصطلحات موضوعية: Fetal karyotip, Kordosentez, Fetal karyotype, Cordocentesis

    الوصف: Yüksek riskli gebeliklerde fetal kromozom analizi sonuçlarının incelenmensi amacıyla. Dicle Üniversitesinde Temmuz 2001-Aralık2004 tarihleri arasında kordosentez yapılan 172 olgu değerlendirildi. Kordosentez serisinde endikasyonların büyük çoğunluğunu ileri yaş, pozitif triple test ve fetal anomali saptanan olgular oluşturdu. Bu endikasyonlarda % 7.5 oranında fetal kromozom anomalisine rastlandı. Fetal anomali grubunda Trizomi 21,18,13 tipi kromozom anomalilerine daha sık rastlandığı gözlendi. Girişimlerdeki başarı oranı .8 olarak saptandı. Sonuç olarak kordosentez modern perinatolojide emniyetli ve uygulanması kolay bir prenatal tanı ve tedavi yöntemidir. ; The aim of this study was to evaluate the results of 172 cordosentesis cases for chromosomal analysis in high risk pregnant patients which were performed in our clinic during 2001 and 2004. Cordosentesis procedure were performed mainly for, fetal anomaly, positive triplescreening test. Fetal chromosomal anomaly ratio was 7.5%. Trisomi 21,18,13 were found in fetal anomaly group. The invasive procedure success rate was .8. Cordosentes is a safe and easily performed prenatal diagnosis and treatment method in modern perinatology.

    وصف الملف: application/pdf

    العلاقة: Dicle Tıp Dergisi; Makale - Ulusal Hakemli Dergi - Kurum Öğretim Elemanı; Erdemoğlu, M., Kale, A. ve Akdeniz, N. (2007). Prenatal tanı Amacıyla kordosentez uygulanan 172 olgunun değerlendirilmesi . Dicle Tıp Dergisi, 34(1), 7-13.; https://hdl.handle.net/11468/5474Test; http://www.diclemedj.org/upload/sayi/54/Dicle%20Med%20J-02589.pdfTest; https://app.trdizin.gov.tr/publication/paper/detail/TnpBNU9UZzQTest; 34; 13