Yasin Ceylan

Review of a challenging clinical issue: Intrahepatic cholestasis of pregnancy

Intrahepatic cholestasis of pregnancy (ICP) is a reversible pregnancy-specific cholestatic condition characterized by pruritus, elevated liver enzymes, and increased serum bile acids. It commences usually in the late second or third trimester, and quickly resolves after delivery. The incidence is higher in South American and Scandinavian countries (9.2%-15.6% and 1.5%, respectively) than in Europe (0.1%-0.2%). The etiology is multifactorial where genetic, endocrine, and environmental factors interact. Maternal outcome is usually benign, whereas fetal complications such as preterm labor, meconium staining, fetal distress, and sudden intrauterine fetal demise not infrequently lead to considerable perinatal morbidity and mortality. Ursodeoxycholic acid is shown to be the most efficient therapeutic agent with proven safety and efficacy. Management of ICP consists of careful monitoring of maternal hepatic function tests and serum bile acid levels in addition to the assessment of fetal well-being and timely delivery after completion of fetal pulmonary maturity. This review focuses on the current concepts about ICP based on recent literature data and presents an update regarding the diagnosis and management of this challenging issue.

Reproductive and obstetric outcomes in mosaic Turner’s Syndrome: a cross-sectional study and review of the literature

BackgroundTurner’s syndrome (TS) is depicted as a total or partial absence of one X chromosome that results in ovarian dysgenesis. Chances of spontaneous pregnancy in TS are rare and the outcome of the pregnancies is known to be poor with an increased risk of miscarriage and stillbirths. Our aim is to evaluate reproductive and obstetric outcomes of natural conception and in-vitro fertilization (IVF) cycles in mosaic TS patients.MethodsA total of 22 mosaic TS cases (seventeen 45,X/46,XX and five 45,X/46,XX/47,XXX karyotypes) were evaluated.ResultsLive birth and abortion rates were found as 32.7xa0% and 67.3xa0%, respectively in 52 pregnancies. Implantation, clinical pregnancy and take home baby rates were detected as 3.7xa0%, 8.6xa0% and 5.7xa0%, respectively per IVF cycle as a result of 35xa0cycles. Fecundability analysis revealed that 5xa0% of the cases experienced first pregnancy within 6xa0months and 8xa0% within the first 2xa0years. Mosaicism ratio did not have an effect on the time to the first pregnancy (pu2009=u2009.149).ConclusionOnly a small proportion of the mosaic TS patients conceive in the first 2xa0years of the marriage. Age of menarche and age of marriage appear not to have any impact on the chance of conceiving. Mosaic TS cases should counseled about the low odds of pregnancy and high miscarriage rates.

Obstetric and neonatal outcomes of delayed interval delivery in cerclage and non‐cerclage cases: An analysis of 20 multiple pregnancies

The aim of study is to compare maternal and fetal outcomes of pregnancies in which cerclage was placed following the loss of first fetus with those without cerclage placement in multiple pregnancies for delayed interval delivery.

Prenatal diagnosis of sirenomelia in the first trimester: A case report

Sirenomelia or “mermaid syndrome” is a rare congenital syndrome characterized by the anomalous development of the caudal region of the body. We present a case of sirenomelia diagnosed in the first trimester using two-dimensional and three-dimensional ultrasonographic examination. A nulliparous woman aged thirty years was referred to our perinatology unit for evaluation because of oligohydramnios at 12 weeks of gestation. Her medical history was unremarkable. There was no family history of genetic abnormalities. We identified a single lower extremity and severe oligohydramnios, which are characteristics of sirenomelia. Sirenomelia, a developmental defect involving the caudal region of the body, is associated with several internal visceral anomalies. Sirenomelia is fatal in most cases due to the characteristic pulmonary hypoplasia and renal agenesia. Prenatal diagnosis of sirenomelia may be difficult in the second or third trimester because of the severe oligohydramnios; it should be easier to diagnose sirenomelia in the first trimester.

Prenatal diagnosis and management of a fetal neck mass

We report the case of a benign mesenchymal spindle-cell tumor located on fetal neck, diagnosed during prenatal ultrasound and magnetic resonance investigation. A 30-year-old woman (gravida 2, para 1) was referred to our perinatology unit for evaluation of a fetal neck mass that had been identified on ultrasonography at 29 weeks gestation. A right lateral neck mass was observed (size: 42×40 mm) that extended from the preauricular region to right clavicula. Fetal MRI revealed a solid heterogeneous mass arising from the right lateral neck and there was no invasion around tissue and no extension of the mass into the chest. At 37 weeks after birth, we observed that the mass was subcutaneous and there was no invasion to the surrounding tissue. The trachea was not compressed and there was no extension of the mass into the chest. Then, the neck mass was completely resected after birth without any complications. Histopathological examination of tumor was consistent with mesenchymal spindle-cell tumor. Immunohistochemical staining with CD34 and actin was positive; however, caldesmone, epithelial membrane antigen (EMA), and S-100 was negative. Fetal MRI performed during the pregnancy for investigation of fetal neck masses detected on ultrasound gives compatible results observed in the neonate after birth and maintains adequate findings for follow-up and planning of treatment.

The predictive value of lactate peak detected by the magnetic resonance spectroscopy in the brain of growth-restricted fetuses for adverse perinatal outcomes

Abstract Objective: To compare perinatal outcomes between patients with and without abnormal Doppler findings and lactate peak in the fetal brain detected by magnetic resonance spectroscopy (1HMRS) and to assess the feasibility of fetal brain lactate in the prediction of adverse obstetric outcomes in growth-restricted fetuses. Methods: Pregnancies with FGR fetuses underwent Doppler ultrasonography and 3 Tesla 1HMRS for the presence of lactate peak prior to the delivery. Patients were assigned into the following groups; normal Doppler, no lactate peak (Group 1), normal Doppler, lactate peak (+) (Group II), abnormal Doppler, no lactate peak (Group III), abnormal Doppler, lactate peak (+) (Group IV). Results: Five perinatal deaths, all in Group IV, were encountered (pu2009<u20090.001). Perinatal death rate was higher in patients with Doppler flow abnormality ((5/12 (41.7%)) than in patients without Doppler abnormality (0/23) (pu2009<u20090.001) and was significantly higher in the presence (5/18 (27.8%)) than in the absence of lactate peak (0/17) (pu2009=u20090.019). Conclusions: Fetuses with brain lactate peak detected by 1HMRS in addition to altered Doppler findings are more likely to develop short-term morbidities and perinatal death. Fetal brain lactate detected by 1HMRS may represent a clinical marker of altered brain metabolism and further perinatal complications.

Mullerian adenosarcoma of the uterus associated with tamoxifen treatment for breast cancer

Mullerian adenosarcoma following tamoxifen therapy is a rare condition. Our aim was to report the youngest patient in the literature with uterine mullerian adenosarcoma who was undergoing tamoxifen therapy for breast cancer. A premenopausal woman aged 38 years who was undergoing tamoxifen therapy for breast cancer, was admitted with symptoms of lower abdominal pain and irregular vaginal bleeding and malodorous vaginal discharge that had continued for at least 6 months. A pelvic examination revealed a large and malodorous polypoid mass protruding through the cervix and an enlarged uterus. A biopsy from the protruding polypoid mass was reported as a large area of necrosis with neoplastic mesenchymal cells. The patient underwent a total abdominal hysterectomy, bilateral salpingo-oopherectomy, pelvic-paraaortic lymph node dissection, and omentectomie. The histologic diagnosis was Mullerian adenosarcoma. As a result, she was discharged to the oncology department. The woman is alive and her chemoradiotherapy treatment is ongoing. The role of tamoxifen therapy in the development of endometrial neoplasms remains unclear, but all cases of endometrial thickening and vaginal bleeding must be investigated for Mullerian adenosarcoma in tamoxifen users.