Atakan Tanacan

Age related normogram for antral follicle count in general population and comparison with previous studies

OBJECTIVE To construct antral follicle count (AFC) nomogram of general population for every age and to compare our data with previous studies to assess whether available AFC nomograms present any geographical inconsistency. STUDY DESIGN A prospective cross-sectional study was conducted to document AFC nomogram among women in 20-50 years with regular menstrual bleeding. Patients admitted with hirsutism, menstrual irregularity, diagnosis of current/history of endometrioma and hormonal drug use within the last 6 months were excluded. For the final analysis, a total of 381 eligible women were recruited in which all scanning was performed in the early follicular phase. The 25th, 50th and 75th percentiles were compared with previous nomogram. RESULTS The mean decrease of AFC in each year was 0.41. Among the age groups, there were no statistical significance between 20-24, 25-29 and 30-34, whereas decline in AFC was obvious after 35 years and beyond. The figures comparing our data and previous studies depicted similar steady decline at 25th, 50th and 75th percentiles. CONCLUSION The current age related nomogram presented a steady decline in AFC that became significant after 35 years in otherwise healthy women with regular menstrual bleeding. Those percentiles might be used as a reference guide to point out the current status of ovarian reserve for a given woman. Additionally, producing nomogram might enforce using percentiles instead of constant thresholds to define various medical conditions such as polycystic ovarian morphology or diminished ovarian reserve. However, longitudinal data with larger sample size are still needed for the validation of those percentiles.

Treatment of Rectovaginal Fistula Using Sphincteroplasty and Fistulectomy

Aim To assess the results of the treatment of rectovaginal fistulas with incontinence and impaired anal tonus. Materials and Methods This study comprised three rectovaginal fistula groups that were treated using sphincteroplasty and fistulectomy: group 1: eight women with simple rectovaginal fistula due to birth trauma; group 2: six rectovaginal fistula cases that were associated with chronic inflammatory diseases; and group 3: five cases with at least one failed repair attempt. In the second step, operations that took place before the year 2000 were compared to the operations that took place after the year 2000 in terms of demographic and clinical characteristics. Results All of the simple rectovaginal fistula cases healed after the operation. Five of the group 2 patients healed after the operation. However, 1 patient with Crohns disease needed to undergo reoperation, but successfully healed after 6 months. On the contrary, 3 patients in group 3 healed (60%) whereas 2 of them failed to heal. Clinical characteristics of the patients were different between the groups (before and after the year 2000). Conclusion The choice of operation must be done according to the patients underlying pathology. Proper management of associated inflammatory diseases and systemic disorders is recommended for necessary complex cases.

Congenital central nervous system anomalies: the 10-year single center experience on a challenging issue in perinatal medicine

OBJECTIVE Our goal is to highlight the prenatal diagnosis and management of central nervous system (CNS) anomalies through sharing our clinics experience. MATERIAL AND METHODS We evaluated prenatal findings and postnatal outcomes of neonates who had a CNS anomaly diagnosis in our clinic over a ten-year period. A total of 183 cases with various CNS anomalies were included in the study. Birth or termination preferences of mothers were recorded in all cases, and postnatal diagnosis concordance and prognosis after surgical procedures were evaluated in mothers who chose to continue the pregnancy. RESULTS The mean maternal age was 28.2±5.5 years, mean gravida was 2.2±1.3, and the mean gestational age at diagnosis was 30.5±5.5 weeks. Seventy five out of 183 (41%) patients chose to terminate their pregnancy. Twenty babies (26.6%) in the termination of pregnancy group had additional anomalies. A hundred and eight patients gave birth at our institution. Mean birth weight was 3060±647.5 g, mean gestational week at delivery was 37.9±1.7 weeks, and mean APGAR score (5th minute) was 8.8±2.3. Four neonates died at the postpartum first day. The postnatal diagnosis of 60 of the 108 (55.5%) patients who gave birth was concordant with the prenatal diagnosis, and 32 of the 108 (29.6%) babies underwent surgical interventions. CONCLUSION CNS anomalies have broad spectrum and variable prognoses. This study highlights the limitations of prenatal diagnoses, and the need for parents to have this information in order to determine the course of their pregnancy and prepare themselves for the postnatal challenging treatment/rehabilitation process.

Gestational Outcomes of Pregnant Women Who Have Had Invasive Prenatal Testing for the Prenatal Diagnosis of Duchenne Muscular Dystrophy

Aim To show the importance of prenatal diagnosis of Duchenne Muscular Dystrophy (DMD) and to demonstrate the effect of DMD gene mutations on gestational outcomes. Materials and Methods We retrospectively evaluated 89 pregnancies in 81 individuals who were referred to Hacettepe University for prenatal diagnosis of DMD between January 2000 and December 2015. Prenatal diagnostic methods (chorionic villus sampling (CVS): 66, amniocentesis (AC): 23) were compared for test results, demographic features, and obstetric outcomes of pregnancies. The female fetuses were divided into two groups according to the DMD status (healthy or carrier) to understand the effect of DMD gene mutations on obstetric outcomes. Results Eight prenatally diagnosed disease-positive fetuses were terminated. There was no statistically significant difference between the CVS and AC groups in terms of study variables. There were 46 male fetuses (51.6%) and 43 female fetuses (48.4%). Fifteen of the female fetuses were carriers (34.8%). Median birthweight values were statistically insignificantly lower in the carrier group. Conclusion Pregnancies at risk for DMD should be prenatally tested to prevent the effect of disease on families and DMD carrier fetuses had obstetric outcomes similar to DMD negative female fetuses.

Computerized prediction system for the route of delivery (vaginal birth versus cesarean section)

Abstract Aim To develop a supportive computerized prediction system for the route of delivery. Materials and methods This study consisted of 2127, 3548 and 1723 deliveries for the years 1976, 1986 and 1996, respectively. We have developed a supervised artificial neural network (ANN) for predicting the delivery route. We have used a back-propagation learning algorithm for this purpose. The data used for the computerized system were obtained during the admission of the patients to the delivery room at the beginning of the first stage of labor after pelvic examination and examination/evaluation of the mother and fetus. The input variables for the ANN were maternal age, gravida, parity, gestational age at birth, necessity and type of labor induction, presentation of the baby at birth, and maternal disorders and/or risk factors. The outputs of the algorithm were vaginal delivery or cesarean section (CS). Results The CS rates in 1976, 1986 and 1996 were 9.1%, 18.5% and 44.5%, respectively. We have demonstrated that the system’s specificity and sensitivity were 97.5% and 60.9%, respectively. The false positive rate was 2.5%, whereas the false negative rate was 39.1%. The positive and negative predictive values were 81.8% and 93.1%, respectively. Conclusion Our computerized system, heretofore named as the “Adana System,” can be used as a supportive decision-making system for predicting the delivery route. The Adana System might be a useful tool to protect physicians against adverse medicolegal issues.

Use of the 50‐g glucose challenge test to predict excess delivery weight

To identify a cut‐off value for the 50‐g glucose challenge test (GCT) that predicts excess delivery weight.

Are Congenital Urinary Tract Abnormalities Linked to Maternal Methylenetetrahydrofolate Reductase Polymorphisms in Fetuses of Intentionally Terminated Pregnancies with Oligo- or Anhydramnios ?

ABSTRACT Objective: We aimed to evaluate fetuses of terminated pregnancies with oligo-or anhydramnios (OAH) to further investigate the association between maternal methylenetetrahydrofolate reductase (MTHFR) polymorphisms and fetal urinary tract malformations. Materials and Methods: This retrospective study included 16 pregnancies with OAH (with normal fetal karyotype) that were intentionally terminated before 22nd gestational week. Fetal autopsy was performed in all cases. We evaluated cases for presence of DNA methylation pathway-related gene polymorphisms. Results: We demonstrated that renal abnormalities and disorders exist in 75% of the cases. Pulmonary system anomalies and single umbilical artery were the most frequently observed associated abnormalities. Polymorphisms with known reduced MTHFR activity were found in 81.8% (9/11) of the cases.Association between urinary system abnormalities and polymorphisms with known reduced MTHFR activity was observed in 88.8% (8/9) of the cases. Conclusion: Physicians should keep in mind that polymorphisms with known reduced MTHFR activity may be associated with urinary tract abnormalities and OAH.

Consecutive successful pregnancies of a patient with nail-patella syndrome

Abstract Nail-patella syndrome is a genetic disorder with some characteristic features (nail dysplasia, patellar hypoplasia, elbow dysplasia, iliac horns and renal symptoms). Renal involvement of these patients requires close follow-up in pregnancy to avoid complications like preeclampsia. In this report, we have presented two consecutive successful pregnancies of a patient with nail-patella syndrome. The first pregnancy resulted with a newborn with nail-patella syndrome and the second pregnancy resulted in a healthy newborn without any obstetric complications. Renal functions were closely followed-up during both pregnancies, and basal renal functions were normal in the pregestational period, which seems to be the most important predictor of obstetric hypertensive complications. Prenatal diagnosis of nail-patella disease is also challenging due to several possible mutations and a wide range of phenotypes of the disease. Ultrasonographic examination findings may be suspicious for the disease in the fetus like patellar hypoplasia or joint contractures.

A pregnant woman with an operated bladder extrophy and a pregnancy complicated by placenta previa and preterm labor

Abstract Background Bladder exstrophy (BE) is a complex congenital anomaly that affects the urinary, reproductive, musculoskeletal and intestinal systems. Highlights This pregnancy case was complicated by BE, methylenetetrahydrofolate reductase (MTHFR) A1298C and plasminogen Activator inhibitör-1 (PAI) 4G/4G homozygous polymorphisms, placenta previa, preterm labor and preterm premature rupture of the membranes. The fetus was evaluated by ultrasonography daily and anhydramnios was detected on the 2nd day of the patient’s hospitalization. A cesarean section (C/S) was performed at 27 weeks and 6 days of gestation and a 1330 g male infant was delivered. Conclusions Adult female patients with BE can have successful pregnancy outcomes if they receive appropriate antenatal care. However, the follow-up of these patients must be carried out at experienced tertiary reference centers with a multidisciplinary approach. This difficult process must be managed by obstetricians, neonatologists, urologists and pediatric surgeons working together.

Fatal Postpartum Hemorrhage in a Patient with Niemann-Pick Disease Type B

Background Niemann-Pick Disease Type B (NPD B) is a rare lysosomal storage disorder resulting from an inherited deficiency of acid sphingomyelinase activity. Here, we report the case of a splenectomized patient with NPD B who died because of severe postpartum hemorrhage (PPH). Case Presentation A 23-year-old nulliparous woman was admitted to intensive care unit (ICU) after cardiopulmonary arrest during urgent hysterectomy because of severe postpartum bleeding. The patient concealed her disease from her family and obstetricians during her pregnancy, and her NPD B diagnosis was revealed during her stay in ICU while searching for the cause of the splenectomy and severe bleeding. Unfortunately, she had a detrimental course with hypoxic brain injury leading to brain death. Conclusions In conclusion, physicians should keep in mind that patients with a history of splenectomy and/or uncontrollable hemorrhage must be carefully evaluated for rare diseases like lysosomal storage diseases and that NPD B can cause mortality because of postpartum bleeding. Adult intensivists should be familiar with adult presentations of rare metabolic or genetic diseases as more and more children with metabolic or genetic diseases will survive to adulthood and will be admitted to and unfortunately will even die in the adult ICU.