Outcomes of antenatally diagnosed fetal cardiac tumors: a 10-year experience at a single tertiary referral center.

OBJECTIVE: The purpose of this study was to analyze the clinical and perinatal outcomes along with ultrasonographic characteristics of fetuses with a cardiac tumor. METHODS: The data were obtained retrospectively between January 2010 and December 2019 in a tertiary referral center. The Cardiovascular Profile Score (CVPS) was used for the diagnosis of heart failure. Clinical outcomes of the cases identified in the postnatal period were analyzed. RESULTS: Fourteen cases were evaluated with the fetal cardiac tumor. One case made the decision to terminate the pregnancy. Perinatal death was seen in 4 (30.7 %) cases out of 13 cases. In 3/14 (21.4%) cases, a solitary cardiac tumor was found while multiple cardiac tumors were found in 11/14 (78.6%) cases. All living cases 9/9 (100%) had the diagnosis of tuberous sclerosis complex (TSC). When the cases which survived were compared with the cases which died during the prenatal period, a significant difference in tumors' biggest diameters (16.44 ± 5.12 mm vs. 32.25 ± 9.28 mm; p: .011, respectively) was found. No statistically significant difference was found in the number of the tumor(s) and heart failure. CONCLUSION: Fetal cardiac tumors can have serious perinatal mortality. The cardiac tumor size was found to be associated with perinatal mortality. The survival is not different between the cases with solitary and multiple tumors and those with and without congestive heart failure.

Comparison of indications and results of prenatal invasive diagnostic tests before and after the implementation of the use of cell-free fetal DNA: a tertiary referral center experience.

PURPOSE: In this study, we aimed to compare the changes in the number, yield, and the percentage of karyotyping indications of the invasive prenatal diagnostic tests between the periods before and after cell-free fetal DNA was introduced to clinical use. METHOD: The number of invasive prenatal diagnostic procedures such as amniocentesis and chorionic villus sampling, indication percentages and karyotype results in the periods before (January 1, 2009-December 31, 2010), (n = 1412) and after (January 1, 2016-December 31, 2017), and (n = 593) the introduction of cell-free fetal DNA was retrospectively evaluated. RESULTS: When compared with the period before cell-free fetal DNA came into clinical use, the number of invasive prenatal diagnostic tests decreased by 58% while their yield was found to have increased (4.4% vs. 10.3%) in the period after cell-free DNA began to be used (p < 0.001). While there was a decrease in the indications due to advanced maternal age, an increase was found in ultrasonography indications for structural anomaly and the risk of a single-gene disorder (p < 0.001). Amniocentesis rate was found to have decreased in invasive prenatal diagnostic procedure types, while an increase was reported in CVS rates (p < 0.001). CONCLUSIONS: Invasive prenatal diagnosis gradually decreases over the years, but the yield of invasive prenatal diagnostic tests increases. In parallel with the rapid development of modern molecular technologies and cheaper and easier access to the tests, we think that the number of invasive prenatal diagnostic tests will experience a more dramatic decrease in the following years.

Relationship between first trimester aneuploidy screening test serum analytes and placenta accreta.

OBJECTIVE: The aim of this study is to determine whether there is a relationship between first trimester serum pregnancy-associated plasma protein A (PAPP-A) and free beta human chorionic gonadotropin (fßhCG) MoM values and placenta accreta in women who had placenta previa. STUDY DESIGN: A total of 88 patients with placenta previa who had first trimester aneuploidy screening test results were enrolled in the study. Nineteen of these patients were also diagnosed with placenta accreta. As probable markers of excessive placental invasion, serum PAPP-A and fßhCG MoM values were compared in two groups with and without placenta accreta. RESULTS: Patients with placenta accreta had higher statistically significant serum PAPP-A (1.20 versus 0.865, respectively, p = 0.045) and fßhCG MoM (1.42 versus 0.93, respectively, p = 0.042) values than patients without accreta. CONCLUSIONS: Higher first trimester serum PAPP-A and fßhCG MoM values seem to be associated with placenta accreta in women with placenta previa. Further studies are needed to use these promising additional tools for early detection of placenta accreta.

Histological chorioamnionitis: effects on premature delivery and neonatal prognosis.

BACKGROUND: Chorioamnionitis is closely related to premature birth and has negative effects on neonatal morbidity and mortality. METHODS: In this prospective study, 43 mothers who delivered earlier than 35 gestational weeks and their 57 infants were evaluated clinically and with laboratory findings. Placentas and umbilical cords were investigated histopathologically for chorioamnionitis and funisitis. RESULTS: The overall frequency of clinical and histological chorioamnionitis (HCA) was 8.3% and 23.2%, respectively. The frequency of HCA was 47.3% and 83.3% in mothers delivered <32 weeks and <30 weeks, respectively. Maternal demographic and clinical findings and also leukocyte and C-reactive protein values were not indicative of HCA. Infants of mothers with HCA had significantly lower Apgar scores together with higher SNAP-PE-II and CRIB scores. These infants had increased mechanical ventilator and surfactant requirements, higher incidences of patent ductus arteriosus, early sepsis, and bronchopulmonary dysplasia, and higher mortality rates. The effect of HCA on neonatal morbidity and mortality was more prominent than the effect of low birthweight and lower gestational age. CONCLUSION: Chorioamnionitis not only causes premature deliveries, but is also associated with neonatal complications and increased mortality. Clinical findings and infectious markers in mother or infant do not predict the diagnosis of histological chorioamnionitis. Therefore, placental histopathology may have a role in predicting neonatal outcome in premature deliveries, especially those below 30 weeks.

Desferrioxamine treatment of iron overload secondary to RH isoimmunization and intrauterine transfusion in a newborn infant.

Intrauterine transfusion is the standard of care in the management of severe Rh isoimmunization. Desferrioxamine has been used for the treatment of iron overload secondary to hemolysis and intrauterine transfusions in Rh isoimmunization cases. Here, we report a preterm infant born at 34 weeks of gestational age who had formerly received intrauterine transfusions for Rhesus hemolytic disease and presented with severe hyperferritinemia and elevated liver enzymes in the first week of life. Desferrioxamine treatment was started due to a ferritin level of 28,800 ng/ml and continued for 13 weeks. Although the treatment was successful, we observed resistant leukopenia which resolved after the cessation of treatment. In conclusion, iron overload secondary to intrauterine transfusions can be treated successfully with desferrioxamine; however, neonatologists must be aware of the possible side effects of this drug which has been used in only a limited number of newborns.

Prenatal diagnosis of caudal regression syndrome without maternal diabetes mellitus.

Caudal regression syndrome is a rare congenital malformation with varying degrees of early gestational developmental failure. It is also known as sacral agenesis or caudal dysplasia. The cause of this malformation is thought to be defects in neuralization around the 28th day of the gestational period. Although maternal uncontrolled diabetes, genetic predisposition and vascular hypoperfusion are the possible risk factors, actual pathogenesis is unclear. CRS is generally diagnosed at prenatal assessment, but also a varying number of newborns with some degree of anomaly may be presented. In our case, we diagnosed a caudal regression syndrome fetus early in the second trimester. Determination of the pathology early in the gestational age gives parents a chance for termination of pregnancy. Although diabetes mellitus is the major risk factor for CRS, as in our case, sporadic presentations may occur. So clinicians should consider CRS when CRL is shorter than expected and incomplete vertebral ossification is observed both in gray scala and 3D imaging ultrasonography.

Prenatally diagnosed Turner syndrome and cystic hygroma: incidence and reasons for referrals.

OBJECTIVE: The objective of this study was to evaluate the incidence and reasons for referrals for prenatally detected Turner syndrome and cystic hygroma cases among prenatal cases performed between 1998 and 2007. METHODS: In this study 3,595 amniocentesis, chorionic villus and cordocenthesis materials obtained between 1998 and 2007 were evaluated. Among prenatal cases, 23 Turner syndrome cases were also evaluated according to their referral reasons. Among the indications of prenatal cases, cystic hygroma was evaluated according to karyotype results. RESULTS: Twenty-three cases were Turner Syndrome in which 7 cases were detected to have mosaic pattern. The indications for prenatal diagnosis for the cases were cystic hygroma in 11 cases, missed abortion in 6 cases, advanced maternal age in 5 cases and positive screening test results in 1 case. Among 18 cases having cystic hygroma detected by ultrasonography, 8 cases (44.4%) were found to have a 45,X karyotype, 3 cases were found to be mosaic Turner syndrome (16.7%), 5 cases (27.7%) had normal karyotype, 1 case (5.6%) 47,XX,+13 and 1 case (5.6%) 47,XX,+21. CONCLUSION: The present study indicates the importance of cystic hygroma in prenatal diagnosis of Turner Syndrome and other aneuploidies.

The immunohistochemical evaluation of VEGF in placenta biopsies of pregnancies complicated by preeclampsia.

OBJECTIVE: The study was designed to determine the protein levels of vascular endothelial growth factor (VEGF) in the placenta biopsies of patients with preeclampsia and compare with normal controls. DESIGN: Prospective cohort study. METHODS: The placental biopsies were obtained from ten patients with preeclampsia and ten patients of control group at the time of delivery. Avidin-biotin-peroxidase immunohistochemistry was then performed to identify levels of VEGF protein within the tissue and a semi-quantitative method was devised to score the amount of staining present in the sample. Two histopathologists who were blinded to the groups were asked to score each sample for the intensity of staining and the number of cells stained in a randomly selected per high-power fields of each sample. The resulting "H-score" was computed as a product of intensity and percent of cells stained. RESULTS: The VEGF expression was significantly higher in placenta biopsies of preeclamptic patients compared to that of controls (271.2 +/- 22.65 vs. 201.9 +/- 12.33, P = 0.000). CONCLUSION: Immunostaining of VEGF is significantly higher in placenta biopsies of patients with preeclampsia.

Altered IGF-I receptor expression in chorioamniotic cells in premature rupture of fetal membranes.

OBJECTIVE: To investigate the presence and distribution of type I insulinlike growth factor receptor (IGF-IR) in the cells of the chorioamniotic membrane and to search for any alterations occurring in IGF-IR expression in premature rupture of membranes (PROM) patients. STUDY DESIGN: Fetal membranes collected at delivery from 42 pregnancies between 36 and 40 gestational weeks were included in the study. Seventeen of 42 cases had premature rupture of membranes, and 25 cases had intact membranes prior to delivery. Paraffin sections of thefetal membranes were stained with IGF-IR antibody by the streptavidin-biotin-immunoperoxidase method. The staining was scored and compared statistically between PROM and control cases. RESULTS: The fetal membranes of PROM cases had significantly reduced IGF-IR expression in chorionic trophoblastic cells when compared with the control group (P = .006, X2). CONCLUSION: Our immunohistochemical findings revealed that chanlges in IGF-IR levels in choriolzic amniotic cells may play a pathogenetic role in PROM cases, but the mechanism is speculative and needs further investigation.

Role of apoptosis, bcl-2 and bax protein expression in premature rupture of fetal membranes.

OBJECTIVE: To examine the degree of apoptosis in human fetal membranes associated with premature rupture of membranes (PROM) as compared with normal pregnancies and to evaluate the expression of proapoptotic bax and antiapoptotic bcl-2 gene products. STUDY DESIGN: Fetal membranes from 50 pregnancies were included in the study. Thirty of 50 pregnancies had PROM. Twenty pregnancies with intact membranes served as controls. Chorioamniotic membrane biopsies were taken from the rupture site of the membrane and periphery of the rupture side. In the control group, membrane biopsies were taken from the artificial rupture site, cervical pole of the membranes and membranes close to the edge of the placenta. In recognizing apoptotic figures, routinely processed samples were stained with hematoxylin and eosin for light microscopic evaluation. Quantification of the apoptotic cells was performed with high-power fields and expressed as the number per 100 cells. The membranes of both groups were then stained with bcl-2 and bax antibodies by using the standard steptavidin-biotin-immunoperoxidase method. Staining with both antibodies were compared between two groups. RESULTS: Apoptotic cells were detected in the amniotic epithelium, in chorionic cells and fibroblastic layer of the fetal membranes. Apoptotic cells were found mostly in the chorionic cells. There was a statistically significant difference between the apoptotic index in PROM and the control group in both rupture and peripheral sites (P < .05), although within each group peripheral and rupture sites showed no difference in terms of apoptotic cell counts. Both bax and bcl-2 expression was observed in 40% of control cases and in 57% and 50% of cases with PROM, respectively, mostly in the chorionic trophoblastic cells. The PROM and control groups showed no statistically significant difference in terms of bcl-2 and bax protein expression. CONCLUSION: Apoptosis may play a role in the pathogenesis of PROM, but the changes in apoptosis do not seem to be mediated by bcl-2 and bax genes in the amniotic membrane. Other regulatory mechanisms must be investigated.

Comparison of the reduction of postoperative adhesions by two barriers, one solution, and two pharmacologic agents in the rat uterine model.

OBJECTIVE: To evaluate the effects of two barriers, one solution, and two pharmacologic agents, in single or in combined use, for preventing postsurgical adhesion formation in the rat model. DESIGN: A randomized, prospective study to evaluate the ability of leuprolide acetate, oxidized regenerated cellulose, medroxyprogesterone acetate, sodium hyaluronate, sodium hyaluronate/carboxymethyl cellulose, in single or in combined use, for preventing adhesion formation in a rat model. ANIMAL(S): Wistar female rats. SETTING: University animal laboratory. INTERVENTION(S): Intramuscular injection of pharmacologic agents before surgery and intraperitoneal application of barriers and solution at the end of surgery. MAIN OUTCOME MEASURE(S): Two weeks after surgery, a second laparotomy was performed and the extent of adhesion formation was determined. RESULT(S): All the treatment groups had fewer, less severe adhesions when compared with controls. The combination of medroxyprogesterone acetate and oxidized regenerated cellulose did enhance the adhesion-reducing capacity of oxidized regenerated cellulose. The performance of sodium hyaluronate solution for adhesion prevention was statistically significant, when compared with oxidized regenerated cellulose alone, or sodium hyaluronate used with carboxymethyl cellulose film. CONCLUSION(S): Pharmacologic agents, barriers, or solutions result in significant reduction of postsurgical adhesions. The sodium hyaluronate solution alone and medroxyprogesterone acetate treatment alone had the least adhesion prevention scores. However, neither monotherapy nor combined therapy proved to be significantly more beneficial.