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.

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.

Comparison of Apgar scores and cord blood gas parameters in fetuses with isolated congenital heart disease and healthy controls.

OBJECTIVE: This retrospective study aimed to investigate how congenital heart disease (CHD) affects early neonatal outcomes by comparing Apgar scores and umbilical cord blood gas parameters between fetuses with structural cardiac anomalies and healthy controls. Additionally, within the CHD group, the study explored the relationship between these parameters and mortality within six months. METHODS: Data from 68 cases of prenatally diagnosed CHD were collected from electronic medical records, excluding cases with missing data or additional comorbidities. Only patients delivered by elective cesarean section, without any attempt at labor, were analyzed to avoid potential confounding factors. A control group of 147 healthy newborns was matched for delivery route, maternal age, and gestational week. Apgar scores at 1, 5, and 10 minutes, as well as umbilical cord blood pH, base deficit, and lactate levels, were recorded. RESULTS: Maternal age, gestational week at delivery, and birth weight were similar between the CHD and control groups. While Apgar score distribution was significantly lower at 1st, 5th, and 10th minutes in the CHD group, umbilical cord blood gas parameters did not show significant differences between groups. Within the CHD group, lower umbilical cord blood pH and larger base deficit were associated with mortality within six months. CONCLUSION: Newborns with CHD exhibit lower Apgar scores compared to healthy controls, suggesting potential early neonatal challenges. Furthermore, umbilical cord blood pH and base deficit may serve as predictors of mortality within six months in CHD cases. Prospective studies are warranted to validate these findings and integrate them into clinical practice, acknowledging the study's retrospective design and limitations.

Guideline-based venous thromboprophylaxis in postpartum women: An in-depth evaluation of ACOG and RCOG recommendations and real-life implementation.

OBJECTIVES: Venous thromboembolism is one of the most serious complications of the postpartum period, and international societies have various thromboprophylaxis guidelines for its prevention. This study compares postpartum venous thromboprophylaxis recommendations from the American College of Obstetrics and Gynecology (ACOG) and the Royal College of Obstetricians and Gynecologists (RCOG) with real-life clinical practices. STUDY DESIGN: Data analysis of 1000 postpartum women at a tertiary care center focused on patient demographics, venous thromboembolism risk factors, and clinical thromboprophylaxis practices. Patient-specific risk factors were compared between ACOG and RCOG guidelines, assessing Low-Molecular-Weight-Heparin dosages and durations. Guideline compliance, undertreatment/overtreatment rates, and the required number of prefilled Low-Molecular-Weight-Heparin syringes were evaluated. RESULTS: Significant discrepancies were observed between ACOG and RCOG guidelines, particularly in Low Molecular Weight Heparin dosages and durations. Consensus rates with clinical approaches were around 53%, with inconsistencies leaning towards undertreatment (RCOG) and overtreatment (ACOG). The number of required prefilled Low-Molecular-Weight-Heparin syringes was notably higher according to RCOG compared to ACOG guidelines. CONCLUSION: Postpartum Venous thromboembolism prophylaxis guidelines from American College of Obstetrics and Gynecology and Royal College of Obstetricians and Gynecologists exhibit substantial differences, leading to variations in clinical practice. Further research on the significance of Venous thromboembolism risk factors is essential for improving risk assessment tools and refining guideline recommendations for pregnancy-related Venous thromboembolism prevention.

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.

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.

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.

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.

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.

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.

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.

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.

A novel CLCN7 mutation resulting in a most severe form of autosomal recessive osteopetrosis.

Osteopetrosis is a bone disease characterized by osteoclast failure and impaired bone resorption. Genetically, it is classified in three forms with autosomal recessive (ARO), autosomal dominant, and intermediate autosomal recessive inheritance, respectively. Some ARO forms are also associated with primary neurodegeneration, retinal atrophy, and lysosomal storage, which are caused by CLCN7 and OSTM1 gene mutations. Herein, we present a unique consanguineous family with a 26-month-old child with osteopetrosis, neurodegeneration, retinal atrophy, and tubulopathy. Direct sequencing of the CLCN7 gene showed a novel homozygous R561Q variant in the patient. Both healthy parents were heterozygous for this amino acid substitution indicating autosomal recessive inheritance. The same homozygous nucleotide transition was found prenatally in a second child and the pregnancy was terminated at 17th week of gestation. A full autopsy was performed to the fetus, which confirmed the presence of osteopetrosis, thereby indicating that the variant observed indeed represents the disease-causing mutation. This is the first report of ARO associated with a novel recessive R561Q variant in CLCN7 gene, in which prenatal diagnosis was made.

Late postpartum hemorrhage due to von Willebrand disease managed with uterine artery embolization.

BACKGROUND: Von Willebrand disease is the most common inherited bleeding disorder caused by quantitative or qualitative defects of von Willebrand factor, which may lead to postpartum bleeding problems. In such patients, resistant postpartum hemorrhage may be treated effectively by using transcatheter arterial embolization. CASE: Life-threatening late postpartum bleeding of a patient with von Willebrand disease type 3 unresponsive to traditional medical approaches was successfully managed with selective uterine artery embolization. CONCLUSION: Selective transcatheter uterine artery embolization may be used to control life-threatening pelvic hemorrhage unresponsive to traditional local measures. Such an intervention may also be used successfully in patients with bleeding disorders as the last chance of uterine preservation.

Prenatally diagnosed lethal type Larsen-like syndrome associated with bifid tongue.

Larsen syndrome is characterized by multiple joint dislocations, associated with a typical facial appearance and frequently other abnormalities. Both dominant and recessive patterns of inheritance have been reported. A lethal form of Larsen syndrome (Larsen-like syndrome) has been described as a combination of the Larsen phenotype and pulmonary hypoplasia. In this report, we present a 24-week-old female fetus with a possible prenatal diagnosis of thanatophoric dysplasia in whom postmortem examination revealed lethal type Larsen-like syndrome associated with bifid tongue, severe micrognathia and non-immune hydrops fetalis. These findings have not been reported previously in the lethal type Larsen syndrome.

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.