Pancake kidney and jejunal atresia: An uncommon dual anomaly detected prenatally-A case report.

Pancake kidney is a renal fusion anomaly with only a few reported prenatal diagnoses. Other structural anomalies beyond the urogenital system may also be associated. This study describes a dual anomaly case detected prenatally, comprising of pancake kidney and jejunal atresia. A postnatal abdominal ultrasound confirmed both kidneys were fused in the midline at the aortic bifurcation level, along with a type 3b jejunal atresia. Based on the available limited evidence about pancake kidney, renal functions appear to remain largely preserved and unaffected as in our case according to 6 months of follow-up. However, further investigation is needed to explore any potential association with chromosomal and structural abnormalities in selected cases.

Fetal cardiac interventions: First-year experience of a tertiary referral center in Turkey.

AIM: To present the first-year experience of fetal cardiac interventions (FCIs) in a tertiary referral hospital and to evaluate the outcomes. METHODS: This retrospective study consisted of four pregnant women who underwent fetal pulmonary or aortic balloon valvuloplasty between November 2020 and June 2021. The procedures were performed with a percutaneous cardiac puncture under the ultrasonography guidance. Gestational age at intervention, procedural success, complications, and perinatal outcomes were evaluated. Procedural complications defined as fetal bradyarrhythmia requiring treatment, pericardial effusion requiring drainage, balloon rupture, and fetal death. The procedure was considered technically successful if the valve was dilated with a balloon catheter. Ultimately successful procedure was defined as the discharge of infants alive with biventricular circulation. RESULTS: A total of 5 FCIs attempted between 26 + 3 and 28 + 2 gestational weeks. While the procedure was technically successful in 2 cases with pulmonary stenosis, both attempts were unsuccessful in the fetus with pulmonary atresia. Although the procedure was technically successful in the patient with critical aortic stenosis, it ultimately failed. No fetal death occurred in our series and there were no procedure-related significant maternal complications. However, three interventions were complicated by fetal bradycardia and pericardial effusion necessitating treatment, and balloon rupture cropped up in one case. CONCLUSION: FCIs may lead to improving the likelihood of a biventricular outcome for selected fetuses. Careful selection of patients and centralization of experience are essential for obtaining favorable outcomes. Operators should be aware of procedural complications. Improved procedural techniques with a lower complication rate will be achieved through advanced medical technology and special balloon catheters.

Comparison of Prenatal Ultrasound and Autopsy Findings of Fetuses Terminated in Second Trimester: A Five-Year Experience of a Tertiary Center.

Objective: The aim of this study is to compare the prenatal ultrasonography (US) and the autopsy findings of the fetuses of 12-24th gestational weeks. Methods: This retrospective study comprises 84 fetuses autopsied. The correlation between US and autopsy findings was classified into four categories: (A) Compatible, (B) Minor findings added, (C) Major findings added, and (D) Incompatible. Results: Malformations were the most common medical termination indication. The most frequent findings at autopsy were multiple system findings followed by central nervous system. Prenatal US and autopsy findings were completely compatible in 48 fetuses (57.1%), while additional minor and major autopsy findings were found in 26 (31.0%) and 4 (4.8%), respectively. Autopsy and US findings were incompatible in 6 fetuses (7.1%). Conclusion: Prenatal ultrasound and fetal autopsy are complementary tools to obtain detailed and complete diagnosis of fetal anomalies and fetal autopsy is still a valuable tool to obtain further diagnostic information.

A lethal and rare cause of arthrogryposis: Glyt1 encephalopathy.

Glycine encephalopathy with normal serum glycine (MIM #617301), also known as GLYT1 encephalopathy, is an extremely rare disorder caused by biallelic variants in SLC6A9 and characterised by facial dysmorphic features, skeletal findings including contractures, knee hyperextension, and joint dislocations and seizures. To date, only ten patients from five families have been reported and only two of them could survive until childhood. In this study, we report on a consanguineous Turkish couple with a history of six pregnancies with three habitual abortions and three postpartum exitus. While in three pregnancies the babies were born prematurely at 32nd gestational week by emergency ceserean section due to hydrops and fetal distress, the other pregnancy was medically terminated at 16th gestational week due to absent fetal heart activity. The product of all these three pregnancies exhibited similar phenotype including short neck, thoracic kyphosis, hypertrichosis, joint contractures and dislocations, hypertonia, knee hyperextension and facial dysmorphic features. Trio exome sequencing was performed prenatally during the last pregnancy and a novel VUS variant in SLC6A9 and a likely pathogenic variant in MTOR gene were detected. DNA isolation was performed from frozen muscle and adrenal tissue of previously autopsied fetuses with similar clinical features, and the same variants were confirmed in both of them. Our data suggest that SLC6A9 and MTOR variants may be responsible for this extremely lethal phenotype in this family.

Fetal Mediastinal Fibrosarcoma. Report of Two Cases.

Introduction: One-third of fetal soft tissue tumors are malignant and include congenital fibrosarcoma (CF). We report two fetal CFs arising in the posterior mediastinum. Case Presentation: In case 1, the CF resulted in a mediastinal shift, extensive infiltration of the tumor around adjacent structures, pulmonary hypoplasia, pleural effusion, and rapid growth. The pregnancy was terminated. Case 2 had multiple intrathoracic masses, thoracic hypoplasia, pleural effusion, and fetal death. Both were diagnosed as fibrosarcoma at fetopsy. Discussion: Although congenital CF tends to be locally aggressive with a low metastatic rate, it tends to grow rapidly and the tumor location can affect fetal survival. In Case 1, the tumor demonstrated locally aggressive behavior whereas multiple distant metastases such as lung, liver, adrenals, and left eye were detected in Case 2. The tumor was directly responsible for intrauterine fetal demise in the second case.

Impact of Increased Nuchal Translucency Values on Pregnancy Outcomes: A Tertiary Center Experience.

OBJECTIVE: We evaluated the association of nuchal translucency (NT) values above 99th percentile with perinatal outcomes. Materials and methods: Singleton pregnancies with NT values above 99th percentile were investigated. Pregnancies were divided into 3 groups: group 1, NT = 2.6-<3.5 mm; group 2, NT = 3.5-4.5 mm; and group 3, NT > 4.5 mm. Demographic features, clinical characteristics, structural/chromosomal anomaly rates and perinatal outcomes were compared. Results: Normal ultrasonographic anatomy was found in 47.5%, 7.7%, and 14.3% of groups 1, 2, and 3, respectively (p = 0.006). Group 3 had the lowest normal karyotype rate (44.6%) (p = 0.005). Higher frequencies for both miscarriage and pregnancy termination were observed in group 3 compared to group 1 (8.9% vs. 4.9% and 66.1% vs. 32.7%, respectively) (p = 0.02). The lowest rate of normal postnatal anatomic findings was found in group 3 (10.7%) (p = 0.01). Conclusion: NT values above 99th percentile for gestational age seem to be associated with increased rates of chromosomal/structural abnormalities and adverse perinatal outcomes.

Relationship of maternal mean platelet volume with fetal Doppler parameters and neonatal complications in pregnancies with and without intrauterine growth restriction.

OBJECTIVE: In this study, we investigated the relationship of mean platelet volume (MPV) with the presence and the severity of intrauterine growth restriction (IUGR) and with neonatal complications. METHODS: The pregnancies with and without IUGR, that were followed-up in our hospital between 2003 and 2009 were analyzed retrospectively. Pregnancies which resulted in birth of a newborn with a birthweight less than 10th percentile for the gestational age were selected for IUGR group. IUGR cases were divided into three groups according to the Doppler parameters. RESULTS: There was no significant difference between the MPV values in the groups. There was no association between MPV and Doppler parameters that can be used in predicting the severity of IUGR. There was no significant relation between MPV and the perinatal complications such as intracranial hemorrhage (ICH), bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC), the development of sepsis, postpartum exitus (PPEX) and intrauterine exitus (IUEX). Higher MPV values were associated with hospitalization in the neonatal intensive care unit (NICU) and respiratory distress syndrome (RDS) in the IUGR group. CONCLUSION: Analysis of MPV is a simple and readily available laboratory test. Prospective researches employing standard measurement technics are required to clarify the relationship between MPV and IUGR.

Free protein s reference ranges in gravidas without hereditary and acquired thrombophilia.

We carried out a retrospective cohort study to construct reference ranges for free protein S (FPS) levels during pregnancy and identify any conditions or factors that may affect FPS levels. Patients that were ordered thrombophilia screening tests during gestational period were identified. Patients demonstrated to have hereditary or acquired thrombophilia were excluded. Reference ranges were constructed using regression analysis. Outcome of the index pregnancy and pregnancy complications was used to identify any confounding factors. A total of 455 pregnant women were included. The quadratic equation for FPS according to gestational age (GA) was [75.497 + (-1.516*GA) + 0.018*GA*GA]. FPS level and GA were negatively correlated (Spearmans rho statistic [rs] = -0.436, p = 0.001). FPS level and fetal growth restriction (FGR) were negatively correlated ([rs] = -0.093, p = 0.049). FPS level and placental abruption were positively correlated ([rs] = 0.098, p = 0.039). Stepwise linear regression model constructed to predict FPS level with gestational age, placental abruption and FGR as the predictor variables. Gestational age was the only variable retaining statistically significant relation with FPS level (χ(2) = 0.216, df = 3, p = 0.001). FPS levels decrease significantly throughout gestation in gravidas without hereditary and/or acquired thrombophilias. In patients without thrombophilia FPS levels are not associated with pregnancy complications. The obtained reference intervals may be useful for the clinicians ordering FPS during pregnancy.

Evaluation of periodontal pathogens in amniotic fluid and the role of periodontal disease in pre-term birth and low birth weight.

BACKGROUND: Pre-term birth and/or low birth weight (PTLBW) is a serious problem in developing countries. The absence of known risk factors in ≈ 50% of PTLBW cases has resulted in a continued search for other causes. The aim of this study was to examine the effect of periodontitis on pregnancy outcomes. METHODS: Samples were taken from 50 pregnant women who underwent amniocentesis. Polymerase chain reaction was performed on amniotic fluid samples obtained during amniocentesis and on subgingival plaque samples to determine the presence of Porphyromonas gingivalis, Aggregatibacter actinomycetemcomitans, Treponema denticola, Tannerella forsythia, Fusobacterium nucleatum, Prevotella intermedia, Campylobacter rectus and Eikenella corrodens. Plaque index, gingival index, bleeding on probing, probing depth and clinical attachment level were evaluated. Medical records were obtained after birth. RESULTS: Social and demographic variables were similar among the Gingivitis (G), Localized Periodontitis (LP) and Generalized Periodontitis (GP) groups. Four subjects gave birth to PTLBW neonates. Campylobacter rectus, T. forsythia, P. gingivalis and F. nucleatum were detected in the amniotic fluid and subgingival plaque samples of three patients who gave birth to PTLBW neonates. The amniotic fluid sample from the fourth patient was not positive for any of the tested pathogens. CONCLUSION: These findings suggest that the transmission of some periodontal pathogens from the oral cavity of the mother may cause adverse pregnancy outcomes. The results contribute to an understanding of the association between periodontal disease and PTLBW, but further studies are required to better clarify the possible relationship.

Uterine Rupture with Massive Late Postpartum Hemorrhage due to Placenta Percreta Left Partially In Situ.

Placental adhesive disorders involve the growth of placental tissue into or through the uterine wall. Among these disorders, placenta percreta is the rarest one. However, it may cause significant complications. This report aimed to report a neglected patient with placenta percreta who developed uterine rupture with life-threatening late postpartum intra-abdominal hemorrhage. On admission, the patient had acute abdomen with moderate abdominal distention and was subjected to emergency laparotomy. A full-thickness defect of the anterior uterine wall involving the hysterotomy site was seen. Placental tissues occupied both sides of the incision and posterior bladder wall was also invaded by placenta. Total abdominal hysterectomy with partial resection of the posterior bladder wall was performed.

Carotid-cavernous fistula in term pregnancy due to spontaneous rupture of carotid-cavernous aneurysm.

Carotid-cavernous aneurysm accounts for 2-9% of all intracranial aneurysms. The rupture of carotid-cavernous aneurysm is usually caused by a trauma. Nevertheless, spontaneous rupture may rarely be encountered. Here, we report a term pregnant woman who was diagnosed to have a spontaneous carotid-cavernous fistula due to carotid-cavernous aneurysm rupture and was managed with detachable balloon and coils immediately after cesarean section.

The role of asymmetric dimethyl arginine and oxidant/antioxidant system in preeclampsia.

Preeclampsia is a syndrome characterized by hypertension and proteinuria. The aim of this study is to find the relationship between preeclampsia, asymmetric dimethyl arginine (ADMA), and the oxidant/antioxidant system. Twenty-one preeclamptic and 28 normal pregnant women were included in this study. In cord bloods, ADMA and oxidant/antioxidant parameters were measured. Asymmetric dimethyl arginine levels were significantly increased in preeclamptic pregnancies compared to the control group (p = 0.006). The activities of antioxidant enzymes and malondialdehyde levels were increased in the preeclamptic group compared to the control group (p < 0.001, p = 0.022, p < 0.001, p < 0.001, respectively). Development of endothelial dysfunction and oxidative stress may play a role in developing preeclampsia.

Prenatal echocardiographic diagnosis of cardiac right/left axis and malpositions according to standardized Cordes technique.

OBJECTIVE: The aim of this study was to evaluate distinguishing the right/left side of the fetus, cardiac axis and position according to the standardized Cordes technique in 20 cases with cardiac malposition. METHODS: We studied retrospectively 1536 cases whose fetal echocardiographic examinations were performed between 1999 and 2006 in prenatal cardiology unit. Among these, cardiac malpositions were determined in 20 cases. The cardiac axis and position were determined according to the Cordes technique. All cases were followed-up by serial fetal echocardiograms until birth or intrauterine death occurred. In cases of intrauterine death, an autopsy was performed. After birth, physical and echocardiographic examinations were done and prenatal and postnatal diagnoses were compared. RESULTS: Of 1536 fetal echocardiograms performed, 144 revealed congenital heart diseases (9.4%), among these cases 20 were diagnosed with cardiac malposition. Of cases with cardiac malposition, 16 had congenital heart disease, and four had extracardiac malformation. There were six cases of isolated dextrocardia, three cases of situs inversus totalis, six cases of situs ambiguous, and one case of situs inversus with isolated levocardia. Of four cases with extracardiac malformations, two cases had mesoposition, one had dextroposition, and one had extreme levoposition. In six cases the autopsy findings were the same as that their prenatal echocardiographic findings. When postnatal echocardiographic results of the remaining cases with cardiac malposition due to congenital heart disease were compared with prenatal diagnoses, the same echocardiographic findings were verified. CONCLUSION: The fetal right/left axis must be determined correctly for the accurate diagnosis of cardiac malpositions. Therefore, we recommend that Cordes technique provides a simple and reliable determination of the fetal right/left axis and fetal situs.

Fetal arterial and venous Doppler in growth restricted fetuses for the prediction of perinatal complications.

Fetal arterial and venous Doppler is a useful tool for the monitoring of growth restricted fetuses. Our aim in this study was to compare outcomes when fetuses were grouped according to the combinations of the Doppler results and also according to each vessel Doppler. Deliveries during the period 2002-2008 were reviewed retrospectively and cases with a birth weight less than the 10th percentile were selected for the study. Cases with congenital malformations or chromosomal abnormalities were excluded. Cases were then grouped according to umbilical artery (UA), middle cerebral artery (MCA) and ductus venosus (DV) Doppler results. Two hundred fifty-five cases were selected for the study. The perinatal mortality rate was 9.8% (11 prenatal and 14 neonatal). In the presence of absent or reverse flow in UA, fetal death and neonatal complication rates were higher. In the fetuses having reverse or absent "a" wave, there were findings of metabolic deterioration. Absent-reverse UA end-diastolic flow increased the odds ratios of perinatal and fetal death, bronchopulmonary dysplasia (BPD), necrotizing enterocolitis (NEC), respiratory distress syndrome (RDS), and need for neonatal intensive care unit (NICU) (2.81, 5.94, 10.82, 5.79, 5.19, and 11.60, respectively). Absent/reverse "a" wave in DV increased the odds ratio of perinatal death, fetal death, neonatal death, RDS, and abnormal pH (19.89, 18.06, 12.50, 8.29, and 9.67, respectively). For prediction of fetal metabolic status, DV Doppler is a reliable tool. However, when perinatal complications are considered, this finding for intervention to delivery is a late point. Therefore, when reverse end-diastolic flow in the UA is observed, decision-to-delivery should be taken in order to avoid metabolic deterioration and increased postpartum death.

Perinatal outcomes of fetal abdominal cysts and comparison of prenatal and postnatal diagnoses.

INTRODUCTION: The differential diagnosis of an abdominal cyst can be challenging, and an accurate diagnosis is crucial for optimal antenatal management. The aim of this study was to compare the ante- and postnatal diagnoses of cases with abdominal cyst and to determine the diagnostic accuracy of ultrasonography. MATERIAL AND METHODS: A database review was performed regarding the diagnosis of fetal abdominal cyst covering the period 2002-2009. Structural characteristics and localizations of the cysts in the abdomen were recorded. Ante- and postnatal diagnoses were classified into systems according to the origin of the cyst and were compared. Perinatal outcomes were obtained for all cases. RESULTS: 71 cases with an abdominal cyst were identified. The mean gestational age at the time of diagnosis was 25 ± 5.1 weeks. In 9 cases, there were extra-fetal structural abnormalities, and in 5 cases a chromosomal abnormality was determined. Seven pregnancies were terminated. Overall spontaneous mortality was 11/64 (17%). In 12/64 cases (18%), the cyst resolved at birth. After birth, nearly half of the cases required surgical correction and of these, 20% died. Sensitivity, specificity and positive predictive value of ultrasonography in identifying the system of origin were 88.1, 95.7 and 92.0%, respectively, with a 4.1% false-positive rate. CONCLUSION: Incorporation of different disciplines in the counseling, management and postpartum follow-up is crucial. Postnatal physical examination of fetuses with an abdominal cyst will help to prevent unnecessary surgery.

Disruption of ALX1 causes extreme microphthalmia and severe facial clefting: expanding the spectrum of autosomal-recessive ALX-related frontonasal dysplasia.

We present an autosomal-recessive frontonasal dysplasia (FND) characterized by bilateral extreme microphthalmia, bilateral oblique facial cleft, complete cleft palate, hypertelorism, wide nasal bridge with hypoplasia of the ala nasi, and low-set, posteriorly rotated ears in two distinct families. Using Affymetrix 250K SNP array genotyping and homozygosity mapping, we mapped this clinical entity to chromosome 12q21. In one of the families, three siblings were affected, and CNV analysis of the critical region showed a homozygous 3.7 Mb deletion containing the ALX1 (CART1) gene, which encodes the aristaless-like homeobox 1 transcription factor. In the second family we identified a homozygous donor-splice-site mutation (c.531+1G > A) in the ALX1 gene, providing evidence that complete loss of function of ALX1 protein causes severe disruption of early craniofacial development. Unlike loss of its murine ortholog, loss of human ALX1 does not result in neural-tube defects; however, it does severely affect the orchestrated fusion between frontonasal, nasomedial, nasolateral, and maxillary processes during early-stage embryogenesis. This study further expands the spectrum of the recently recognized autosomal-recessive ALX-related FND phenotype in humans.

Cord blood and maternal serum neopterin concentrations in patients with pre-eclampsia.

BACKGROUND: Pre-eclampsia is a syndrome characterized by hypertension and proteinuria. The aim of this study was to investigate neopterin concentrations in cord blood and maternal serum in patients with pre-eclampsia and a control group. METHODS: Cord blood and maternal serum neopterin were measured in 21 patients with pre-eclampsia and in 27 control subjects. Neopterin concentrations were measured by high performance liquid chromatography. RESULTS: Cord blood neopterin concentrations were significantly increased in patients with pre-eclampsia compared to controls (54.3+/-16.8 vs. 43.4+/-8.5 nmol/L, p=0.011, respectively). Maternal serum neopterin (257.3+/-36.8 vs. 150.9+/-33.8 nmol/L, p<0.001) was also higher in patients with pre-eclampsia. CONCLUSIONS: Cord blood and maternal serum neopterin concentrations are higher in patients with pre-eclampsia. Maternal serum neopterin concentrations used may be used as a marker for the early diagnosis of pre-eclampsia.

Prenatal diagnosis of Jarcho-Levin syndrome in combination with inguinoscrotal hernia.

Jarcho-Levin syndrome is characterized by short trunk dwarfism associated with rib and vertebral anomalies. The syndrome encompasses a group of disorders with phenotypic and inheritance variations. Here we report a prenatally diagnosed patient with spondylocostal dysostosis (SCD) with accompanying congenital inguinoscrotal hernia. A 28-year-old pregnant women, gravida 4, para 3, was referred to our clinic with a diagnosis of wedging of fetal thoracal vertebra and kyphoscoliosis at 28 weeks of gestation. Upon evaluation, fetal vertebral wedging and kyphoscoliosis were confirmed with the addition of thoracic circumference below 3rd percentile, short thorax length, and mild pyelectasis. During follow-up, in utero inguinoscrotal hernia developed. Prenatal diagnosis of SCD is important to provide appropriate genetic counseling and to have an adequate setting for the delivery of the fetus.

Paraoxonase-1 activity determination via paraoxon substrate yields no significant difference in mild hyperhomocysteinemia.

Elevated plasma homocystein (Hcy) level has been recognized as an important risk factor for a number of cardiovascular diseases, peripheral arterial occlusive disease and venous thrombosis. A part of Hcy in the organism is turned to homocysteine thiolactone (HcyT) via a ring closure reaction, which gains rate in hyperhomocysteinemia, and in turn undergoes a hydrolytic reaction back to Hcy by paraoxonase enzyme (PON). Since this is a protective reflex action enzyme against hyperhomocysteinemia, we investigated how a mild hyperhomocysteinemic nutritional habit affected serum PON activity in a population-based study. The difference detected via enzymatic activity using the paraoxon substrate was statistically non-significant (p=0.19), suggesting a defective performance to reflect the expected significance. Determination of serum PON activity via substrate paraoxon yielded no significant difference in an acute mild hyperhomocysteinemic diet model in humans.