Objectives: To evaluate the perinatal outcomes of antenatally diagnosed omphalocele cases. Material and methods: This was a retrospective study conducted between July 2014 and February 2020 at the prenatal diagnosis center of a university clinic. Gestational week of diagnosis, associated anomalies, karyotype analysis results, complications during pregnancy, termination/delivery characteristics, and postnatal results were evaluated. Results: The analysis was performed on 58 patients. The median diagnosis time was 14.5 weeks of gestation. Thirty-three cases (57%) were defined in the first trimester. 33 (57%) of 58 patients had one or more concomitant anomalies, while 25 patients (43%) had isolated omphalocele. The most common associated anomaly was a cardiac anomaly which was observed in 17 fetuses (30% of all omphalocele cases). Karyotype analysis was performed in forty-five patients (41 in the prenatal period, 4 in the postnatal period). A normal karyotype was detected in 27 cases (60%). Trisomy 18 was the most common chromosomal anomaly (n = 15, 33.3%). Thirty of 58 patients (52%) requested termination of pregnancy (TOP) in the early pregnancy period. Thirteen of the cases died in-utero (22%). Fifteen pregnancies resulted in live births (26%), of those eight were lost in the first year of life (six of them had additional anomalies, while two of them had isolated omphalocele but the omphalocele pouch was containing the liver in those two babies). Conclusions: Most of the cases with an omphalocele can be diagnosed in the first trimester. Cardiac anomalies were the most common associated anomalies, while trisomy 18 is the most common chromosomal anomaly. Thus, earlier and effective counseling can be made about the prognosis of pregnancy.
Idiopathic generalized arterial calcification of infancy-1 (GACI-1) is a rare and potentially lethal disease characterized by diffuse calcification of large and medium-sized arteries such as aorta, renal, pulmonary, cerebral and mesenteric arteries. Here we report two new mutations in two newborn babies with GACI-1 treated with bisphosphonates, and their progress in the first year of life.
To evaluate the effect of genetic amniocentesis on the preterm delivery rate in women with uterine myoma.The volume of each fibroid and the relation to the placenta, myometrium and uterine corpus were recorded. Amniocentesis was performed by an experienced operator, if indicated.During the study 14,579 pregnant women were examined and 234 had complications of uterine myomas (1.61%). Forty-three women delivered prematurely (19.46%). The results revealed that multifocal fibroids in relation to the myometrium, uterine myoma subjacent to the placenta, total myoma volume greater than 150 cm3 are statistically significant independent risk factors for preterm delivery, while amniocentesis was not found to be an independent risk factor for preterm delivery.Although having uterine myoma is a fairly known cause of preterm delivery, second trimester genetic amniocentesis does not seem to have any additional adverse effect on the preterm delivery rate in women with uterine myomas.
Fallopian tube carcinoma is a rare gynecological tumor and simultaneous pericardial and breast metastasis of this cancer is an extremely exceptional event.A 46-year-old woman with FIGO Stage IIIc, grade 3 adenocarcinoma of the fallopian tube received cyclophosphamide and carboplatin subsequent to surgery. The disease had been completely silent for 41 months and then it relapsed with pericardial and breast metastasis consecutively. She expired one year after the relapse.Although clinical and biological behavior and response to the treatment of fallopian tube carcinoma is quite similar to epithelial ovarian carcinoma, breast and pericardium are unusual sites of metastasis for each malignancy. As survival is prolonged with new chemotherapeutics these atypical cancer metastases will be observed more frequently.
To evaluate fetal aortic Doppler for the prenatal diagnosis of hemoglobinopathies in the first trimester of pregnancy.Between January and November 2014, a total of 108 patients were enrolled in the study. The couples were carriers of either alpha/beta thalassemia, sickle cell disease or combined carriers of these and were admitted to Çukurova University Faculty of Medicine, Department of Obstetrics and Gynecology Prenatal Diagnosis Center. One hour before the chorionic villus sampling (CVS), patients were evaluated using fetal aortic Doppler. Pulsatility index, peak systolic velocity, and heart rate were noted.There were no statistically significant differences in Doppler indices between different groups of CVS results when compared with the healthy controls.Fetal aortic Doppler investigation was found to be ineffective for the prenatal diagnosis of hemoglobinopathies.
Objective:We aimed to document the reasons of perinatal deaths in a large autopsy series performed in our institute, which is a reference center in the Çukurova region of Turkey. Material and Method:The study included 2150 autopsies performed between January 2000 and December 2012at our institute.Diagnoses were categorized according to the detected pathologies; congenital malformations were detailed based on systems. Results:A pathology was detected in 1619 of 2150 (73.3%) autopsies.Congenital malformations were the most common diagnosis with 68.2%.Neural tube defects and central nervous system malformations were the most frequent system malformation in 28.8% of cases, followed by the urogenital system (11.4%) and musculoskeletal system (8.3%),respectively.Malformation syndromes including multisystem anomalies were defined in 109 cases (9.3%). Conclusion:Congenital malformations are the most common reason for perinatal deaths, with autopsy having an additive role to prenatal and genetic evaluations and providing foresight for planning a subsequent pregnancy.
To evaluate the effect of umblical cord clamping time on lymphocyte subgroups in term and late preterm infants.Seventy-four infants between 34 and 41 weeks of gestation were included in the study. Of these, 37 were umbilical cord clamped immediately after birth and the remaining 37 were clamped after waiting one minute. Babies were divided into two groups as term and preterm. The prenatal, natal, postnatal characteristics of the infants were recorded. Hematologic and lymphocyte subgroups were investigated in cord blood and venous blood at day 7. Lymphocyte subgroups were evaluated using flow cytometry.With the delay of cord clamping, the leucocytes count and the percentage of CD3+T lymphocytes in cord blood of preterm infants decreased and this decrease continued at day 7. On the contrary, CD19+B lymphocyte levels in the cord blood of preterm infants increased, and this increase continued at day 7. Also, the percentage of CD4+T lymphocytes of preterm infants decreased with the delay of cord clamping at day 7. There was no difference between groups for the rate of sepsis development.With the delay of cord clamping, the leucocytes count, the percentage of CD3+T, and CD4+T lymphocytes decreased, and the percentage of CD19+B lymphocytes increased in preterm infants. The delay in cord clamping time in term and preterm infants seems to have no impact on the rate of sepsis development. Larger series of studies are needed to assess the effect of these findings on the development of infection in late preterm infants who have delayed cord clamping.