Lethal Congenital Malformations Research Articles

Fetalna akranija - prikaz slučaja

Introduction. Acrania is a very rare lethal congenital malformation characterized by an absence of the cranial vault with developed cerebral hemispheres. It is sometimes confused with anencephaly in which both the forebrain and neurocranium are not developed. Although these two conditions principally differ in their morphology and pathogenesis, acrania may be a precursor of the development of anencephaly through the process known as Acrania-exencephaly-anencephaly sequence. Case report. A 27-year-old woman was diagnosed to have a viable fetus with an absent skull vault and uncovered brain directly exposed to amniotic cavity. A diagnosis of acrania was made. A medical abortion was performed in the 14th week of pregnancy. A gross examination of the formalin-fixed fetus revealed a complete absence of the calva and brain tissue. The cranial structures stop abruptly above the orbits and the fetus showed a triangular face with bulging eyes. At the top of the head, a huge defect with a residual thin covering membrane was visible. According to the gross morphology and in correlation with previous ultrasound findings, the pathologist established the diagnosis of secondary anencephaly. Conclusion. This paper suggests that many of the reported anencephaly cases that are diagnosed during the second or third trimester of pregnancy might represent the end of a spectrum that initially appears as isolated acrania. This may be the reason for much higher global incidence of anencephaly compared to acrania.

Bilateral renal agenesis/hypoplasia associated with oligohydramnios and major intrauterine growth restriction: Prenatal ultrasound study

Bilateral renal agenesis/hypoplasia/dysplasia is a lethal malformation in humans with an incidence of 1.3 per 10,000 live births. In the etiology of bilateral renal agenesis/hypoplasia/dysplasia, the genetic factor plays an important role. In addition to genetic factors, the etiology of bilateral renal agenesis/hypoplasia/dysplasia also involves the teratogenic effect of hyperglycemia on the embryo in mothers with insulin-dependent maternal diabetes. The purpose of this paper is to present a special case of bilateral renal agenesis/hypoplasia/dysplasia, which was successfully diagnosed prenatally by ultrasonography, confirmed and managed appropriately, so as to limit the incidence of serious, lethal congenital malformations.

Polycomb repressive complex 2 controls cardiac cell fate decision via interacting with RNA: Promiscuously or well-ordered.

The epigenetic landscape determines cell fate during heart development. Polycomb repressive complex 2 (PRC2) mediates histone methyltransferase activity during cardiac cell differentiation. The PRC2 complex contains the proteins embryonic ectoderm development (EED), suppressor of zeste (SUZ12), the chromatin assembly factor 1 (CAF1) histone-binding proteins RBBP4 and RBBP7, and the histone methyltransferase called enhancer of zeste (EZH2 or EZH1), which incorporates the Su(var)3-9, Enhancer-of-zeste, Trithorax (SET) domain. Cardiac PRC2-deficient mice display lethal congenital heart malformations. The dynamic process of cardiac cell fate decisions is controlled by PRC2 and the PRC2-mediated epigenetic landscape. Although specific individual long noncoding RNAs (lncRNAs) including Braveheart were widely reported to regulate the recruitments of PRC2 to their specific targets, a promiscuous RNA binding profile by PRC2 was also identified to play an essential role in cardiac cell fate decision. In this review, we focus on RNA-mediated PRC2 recruitment machinery in the process of cardiac cell fate decisions. The roles of individual lncRNAs which recruit PRC2, as well as promiscuous RNA binding by PRC2 in heart development are summarized. Since the binding priority of RNAs with different primary and secondary structures differs in its affinity to PRC2, the competitive relationship between individual lncRNAs binding and promiscuous RNA binding by PRC2 may be important for understanding the machinery by which biding of individual lncRNA and promiscuous RNA by PRC2 coordinately control the well-ordered dynamic cardiac cell lineage differentiation process.

Finite element analysis of esophageal atresia repair with biodegradable polymer sleeves

Esophageal atresia, which occurs in 1 in every 4100 live births, is a potentially lethal congenital malformation resulting in discontinuity of the esophagus. Treatment requires approximating the disconnected esophageal segments and suturing the ends to restore continuity. Due to excessive anastomotic tension, leaks and strictures are prevalent in primary surgical repair of the esophagus especially in the subset of neonates presenting with long gap atresia (>3 cm between esophageal segments). Extracellular matrix derived scaffolds and biodegradable polymer scaffolds have been investigated in preclinical models for use in alleviating esophageal anastomotic tension with varying degrees of success. We have previously described the suitability of biodegradable shape memory materials for use in a number of soft tissue repair applications. Developing repair strategies addressing esophageal atresia requires a framework for approximating tension at the anastomosis. In this study, we describe a computational framework for approximating esophageal anastomotic tension to study the impact of primary and device supported repair. The esophagus was modeled as an idealized concentric cylinder comprised of mucosal and muscle layers described by nonlinear strain energy functions and a mixed fiber model with a Neo-Hookean base material (FEBIO studio). Sutures were modeled as nonlinear elastic springs carrying only tension, and shape memory polymers were modeled as nonlinear elastic materials using one term Ogden parameters. The impact of suture bite (length of suture from anastomosis), sleeve material properties, sleeve suture strategy, and gap length were evaluated with respect to anastomotic LaGrangian strain, displacement magnitude, and strain energy density. With increasing gap length, there was an increase in anastomotic strain, displacement magnitude and strain energy density. Increasing the suture bite length decreased strain at the anastomosis. Application of the sleeve reduced strain, displacement and strain energy to a greater extent in longer gap atresia. Increasing the number of sutures to apply the sleeve did not decrease the esophageal strain compared to sleeves with lesser number of sutures. Sleeve material testing revealed an interplay between the nonlinear mechanical properties of the selected materials and their contribution to reducing anastomotic tension. Taken together this study provides a unique framework for computational verification of design hypothesis broadly addressing clinical procedure optimization, material design, and device design for surgical repair of esophageal atresia.

Стан провізорних органів у плодів при вітальних та летальних аномаліях (огляд літератури)

Provisional organs (placenta, umbilical cord, amniotic membranes, amniotic fluid) play a significant role during pregnancy. Their normal morpho3functional state is an important condition for normal development and well3being of the fetus, as well as for uncomplicated course of pregnancy. Congenital malformations (CM) and chromosomal abnormalities are major causes of perinatal morbidity and mortality. For fetuses with malformations, dysfunction of the provisional organs (PO) can become critical and affect survival. Expert correct examination of PO during a comprehensive prenatal examination can become a diagnostic and prognostic tool for specialized management of fetuses as patients, and newborns to optimize the system of prenatal dispensary evaluation. Literature review has shown that there are certain patterns of the PO pathology in cases of fetal abnormal development, which require changes in the tactics of prenatal observation and delivery. The variability of morphological/ultrasound changes and clinical outcomes makes it difficult to reach definite diagnosis and make correct decisions about the management of patients in specific cases. Further research is needed to optimize the protocols of ultrasound examinations and prediction of perinatal complications in the pathology of the PO in fetuses with normal and abnormal development. No conflict of interests were declared by the authors. Key words: prenatal diagnosis, provisional organs, placenta, umbilical cord, amniotic membrane, amniotic fluid, vital and lethal congenital malformations, perinatal consequences, fetus.

Sirenomelia With Anhydramnios: A Clue From the Movements of Fetal Limbs

Sirenomelia is a rare, lethal congenital malformation of the fetus, typically characterized by the fusion of lower limbs and additional malformations involving the lumbosacral spine and urogenital and gastrointestinal tracts. We report a case of sirenomelia with anhydramnios detected during anomaly scan where the fetus had normal morphology of long bones of the lower limbs. There were associated abnormalities of the lumbosacral spine (caudal dysgenesis). The abortus had fused lower limbs, absent external genitalia and anal orifice, single umbilical artery, and Potter facies. We also highlight the interesting diagnostic challenges faced by us during this antenatal ultrasound. To our knowledge, this is the first case report of sirenomelia where the synchronous movement of lower limbs was a clue that led to the timely antenatal detection of this rare entity. This ultimately helped in perinatal counseling of parents to decide on termination of pregnancy.

Investigation of Regional Perinatal Mortality Rate and Causes in Jeddah, Saudi Arabia

The primary purpose of this study is to recognize the perinatal mortality rate and the vital causes of perinatal mortality to ascertain the significant maternal elements for a safe birth. A retrospective study was carried out in three large tertiary hospitals in Jeddah, Saudi Arabia, in the period from January 1, 2010, through December 31, 2015. All perinatal deaths happening during that time were analyzed. During the six-year review period, a total of 280 infant deaths were recorded with a perinatal mortality rate (PMR) of 6.6 per 1000 births. The principal causes of death among the deceased were low birth weight (LBW) (87%), lethal congenital malformation (CM) (4%), sepsis (3%), and respiratory arrest (3%). The PMR was high in 2010 at 6.8, while it declined to 6.4 at the end of the period studied. The average PMR recorded in this study was 6.6 per 1000 births. This study showed that low birth weight is the main reason for prenatal mortality, although the PMR did decline by the end of the period. A decrease in the perinatal death rate is viable when all females start to attend preconception counselling and are present at antenatal health centres.

Study of Lethal Congenital Malformations at a Tertiary-Care Referral Centre in North India.

Lethal congenital malformations (LCMs) are fatal birth defects that are an important cause of fetal/neonatal death. There is a lack of informative data about these malformations in India, a country that shares the maximum burden of neonatal mortality due to congenital birth defects. Therefore, we conducted a retrospective analysis to know the prevalence of LCMs in late pregnancy, to find out associated factor/variables and to evaluate fetal/neonatal outcome of such anomalies; at a tertiary-care referral centre in North India. All deliveries with LCMs after 24 weeks of gestation were included in the study. Data about antepartum history (maternal age, parity, education, socioeconomic status, consanguineous marriage, folic acid intake, any chronic medical disorder, availability of anomaly scan, unplanned pregnancy); intrapartum events (gestational age at delivery, mode of delivery); postpartum events (weight of the baby, gender of the baby); newborn evaluation; and details of hospital stay were recorded from medical record sheet over the duration of one year. We found that anencephaly, severe meningomyelocele, multicystic dysplastic kidneys and non-immune hydrops with major cardiac defects were more prevalent among all LCMs. On the evaluation of the various studied variables, maximum babies with LCMs were born to mothers who were between 20 and 35 years of age, those who were illiterate, belonged to middle/lower socio-economic class, multigravida, and those who had no detailed anomaly scan. We feel that there is an urgent need to formulate a universally accepted definition of LCMs, to identify preventable risk factors and to formulate management strategy for both mother and liveborn baby with LCMs, in order to minimize the hidden burden of these defects in stillbirth/ perinatal/ neonatal mortality statistics.

Mercury Concentration, DNA Methylation, and Mitochondrial DNA Damage in Olive Ridley Sea Turtle Embryos With Schistosomus Reflexus Syndrome.

Schistosomus reflexus syndrome (SR) is a rare and lethal congenital malformation that has been reported in the olive ridley sea turtle (Lepidochelys olivacea) in Mexico. Although the etiology remains unclear, it is presumed to be genetic. Since embryonic development in sea turtles largely depends on environmental conditions, we investigated whether sea turtle total mercury content participates in the etiology of SR. Given that several toxins are known to affect both DNA methylation and/or mitochondrial DNA (mtDNA) copy number, we also probed for associations of these parameters to SR and mercury exposure. We measured the levels of each variable in malformed olive ridley sea turtle embryos (either with SR or other non-SR malformations) and embryos without malformations. Malformed embryos (with or without SR) showed higher mercury concentrations compared to normal embryos, while only embryos with SR showed higher levels of methylation compared to embryos without malformations and those with other malformations. Furthermore, we uncovered a positive correlation between mercury concentrations and DNA methylation in SR embryos. With respect to mtDNA copy number, no differences were detected across experimental groups. Because of sample size limitations, this study is an initial attempt to understand the association of environmental toxins (such as mercury) and epigenetic alterations (DNA methylation) in the etiology of SR in sea turtles.

Foetal and Perinatal Autopsy – A Study Of 100 Cases

Background: Perinatal and foetal Autopsy pave way for bringing down these preventable stillbirths by identifying the potential areas where the health system tend to fail and helps to rule out congenital and infectious diseases and hence their recurrence. Aims: To describe and analyse the foetal and perinatal death. To determine how often the perinatal autopsy determines and confirms the cause of death and how often it changes the clinical diagnosis. Methods and Material: Autopsy was performed by the pathologist after obtaining informed written consent from parents, examining grossly and microscopically. The cause of death, whenever found was classified according to the ReCoDe system of classification of cause of death. Results: Cause of death was found in 101 (96.2%), unknown in 4 cases (3.8%). Foetal causes were found in 55 (52.4%), lethal Congenital Malformation was seen in 31 (29.5%) cases. Maternal causes were seen in 21 (20%), placental causes were seen in 11 (10.5%) cases. Other causes were attributed in 14 (13.3%) cases. Autopsy added significant findings to the prenatal diagnosis in 10 cases (10%) and changed and added new findings in (9%) 9 cases. While in (81%) 81 cases, it had confirmed the clinical diagnosis. Conclusions: Despite technological advancements, foetal autopsy remains gold standard for diagnosing the cause of death of foetus thus helping prenatal counselling.

Neutrophil-lymphocyte ratio as a mortality predictor for Norwood stage I operations.

Hypoplastic left heart syndrome is a lethal congenital heart malformation when untreated resulting in a 95% mortality in the first month of life. In this study, we aimed to investigate the newly introduced inflammatory biomarker, neutrophil-lymphocyte ratio, as a mortality predictor in postoperative hypoplastic left heart syndrome patients. Patients were divided into two groups; Group 1 consisted of 33 patients who were discharged and Group 2 including 20 patients who were deceased following surgery. Patients' preoperative demographic characteristics, total white blood cell counts, neutrophil counts, lymphocyte counts, neutrophil-lymphocyte ratio, C-reactive proteins, alanine aminotransferase, aspartate transaminase, urea, and creatinine levels were recorded. Studys' primary endpoint was all-cause patient mortality following surgery. The preoperative neutrophil-lymphocyte ratio was found to be significantly different between the groups (p = 0.001). High neutrophil-lymphocyte ratio was found to be associated with an increased risk of death. The ROC curves of neutrophil-lymphocyte ratio were found to be associated with mortality. The area under curve for the preoperative neutrophil-lymphocyte ratio was 0.74. Neutrophil-lymphocyte ratio predicted mortality with a sensitivity of 78% and a specificity of 65%. Neutrophil-lymphocyte ratio can contribute to the early identification of patients at high risk for complications. In addition, through the use of NLR, clinicians could implement measures for the optimal therapeutic approach of cardiac surgery patients and the elimination of adverse patient outcomes.

Causes of stillbirths in diabetic and gestational diabetes pregnancies at a NSW tertiary referral hospital.

Diabetes in pregnancy may result in stillbirth or neonatal death. This audit examined stillbirths of mothers with pre-existing diabetes in pregnancy (DIP) and gestational diabetes (GDM) to determine maternal and diabetic characteristics implicated in these deaths. A retrospective cohort study was conducted to identify stillbirths occurring in diabetic pregnancies at Westmead Hospital during 2006-2017. Medical records were reviewed to obtain data relating to maternal factors, diabetes history, glycaemic control and cause of death. There were 37 women (seven with type 1 diabetes [T1DM], 11 with type 2 diabetes [T2DM] and 19 with GDM) who had 38 stillbirths. The leading cause of stillbirth was lethal congenital malformations in nine cases, followed by placental and umbilical abnormalities in six, intra-uterine growth restriction (IUGR) in six, and obstetric factors in four cases. Malformations were predominantly cardiovascular (n=7), musculoskeletal (n=5) and gastrointestinal (n=4). There was no difference in the proportion of stillbirths related to malformations between the DIP and GDM groups (P=0.22). In the pre-conception period or first trimester, all T1DM subjects and all but two T2DM subjects had HbA1c >7% or there was no measurement. HbA1c was >7% in 6/7 T1DM subjects and 7/11 T2DM subjects at some stage during the pregnancy. Stillbirth remains a problem in diabetic pregnancy in the 21st century. Lethal malformations, placental abnormalities and IUGR were the leading causes of stillbirth related to diabetes. Pre-conception counselling and planning to achieve better glycaemic control in pregnancy needs to be improved.

The ethics of lethal congenital malformations. Is palliative therapy possible?

Aim: This study aims to show that palliative care can be offered to babies born with lethal malformations according to the Islamic Code of Ethics, which takes into account the well-being of the mother and her fetus. Methods: For our study, a lethal congenital malformation is defined as a condition that invariably leads to death in utero or the newborn period regardless of attempted supportive care. The cases were identified during weekly prenatal meetings, which discuss abnormal fetal ultrasound findings and genetic testing to provide plans for their management. In addition, cases that were not diagnosed antenatally but diagnosed at birth were also included. The management plans for those cases with lethal malformations were discussed before birth, and the families were counseled, and their consent was taken for nonmonitoring of the fetus during pregnancy and noninterference with the newborn baby except for palliative care. Families who requested full support during pregnancy and delivery were given that option. Results: Over a period of 16 years from 2001 to 2016, a total number of 92705 babies were born in our hospital. Antenatal ultrasounds were performed by the feto-maternal physician team. There were 1563 abnormal fetal ultrasounds (1.7%) with significant various organs malformations. Of these abnormal ultrasounds, 384 were diagnosed as possible lethal congenital malformations (24.6%). The remaining abnormal fetal ultrasounds were compatible with life and were managed according to the standard clinical practices. Fetuses diagnosed with lethal malformations were discussed at length and parents were informed about the lethal outcome and the plan of nonmonitoring of the mother at delivery and avoidance of cesarean section except for maternal indication and eventual palliative care for the live newborn. Parents' consent was obtained, and the decision and the plan of the management are documented clearly in the mother's medical record file. With this management plan, we were able to offer palliative care to the cases of lethal congenital malformations who eventually expired within a short time. Conclusion: Within the guidance of the Islamic Jurisprudence (Figh), it is possible to manage cases of congenital malformations, which are considered incompatible with life palliatively and avoid unnecessary cesarean sections in the mother. This practice has resulted in better utilization of the beds in our busy neonatal intensive care unit.

Outcome of Surfactant Replacement Therapy in Preterm Babies with Hyaline Membrane Disease at Neonatal Intensive Care Unit of a Tertiary Hospital

Introduction: Hyaline membrane disease (HMD) is an acute lung disease of preterm babies caused by surfactant insufficiency. Decreased surfactant results in insufficient surface tension in the alveolus during expiration leading to alveolar collapse, atelectasis, impaired gas exchange, severe hypoxia and acidosis, leading to respiratory failure. Surfactant replacement therapy (SRT) is now accepted as the standard treatment of preterm babies with HMD.
 Objective: The objective of this study was to analyze the outcome of surfactant replacement therapy in preterm babies with hyaline membrane disease.
 Methodology: This is a prospective observational study conducted at 10 bedded neonatal unit of Pediatrics Department, Kathmandu Medical College Teaching Hospital, Sinamangal. Study duration was of one year period (15 May 2017 – 14 May 2018). Preterm babies from 26 wks–35 wks of gestation with Hyaline Membrane Disease were included in this study whereas babies with lethal congenital malformations eg: Meningomyelocele, Anencephaly, Gastrochisis, Diaphragmatic Hernia were excluded. All preterm babies who had clinical and radiological features of HMD were considered for Surfactant Replacement Therapy (SRT). The surfactant (Survanta; Abboti Laboratories, USA; Dose: 4 ml/kg) was administered intra-tracheally according to standard procedures in four divided aliquot applying INSURE (intubation, surfactant administration and extubation to Bubble CPAP) Technique. Ethical clearance was received from Institutional Review Committee (IRC) of Kathmandu Medical College and Statistical analysis was done with SPSS 19 version with frequency and cross tabulation.
 Results: In this study of 30 preterm babies with HMD received SRT, 47% (14) were male and 53% (16) were female. The mean birth weight of preterm babies with HMD was 1372.17 ± 395 gms and mean gestational age was 30.1±2.6 weeks. Among 30 preterm babies with HMD receiving SRT, 73.3% (22 babies) discharged from the hospital and 6.3% (8 babies) expired. Among eight expired babies, five died due to pulmonary hemorrhage and three died due to septicemia with DIC. Maximum survival was seen in the gestational age of 30-35 wks and birth weight 1200-2100gms.
 Conclusion: The use of SRT has improved the survival outcome and decreased the associated morbidities in babies with HMD. The maximum impact of survival was seen among the preterm babies of 30- 35 weeks with birth weight of 1200 -2100 grams.

Comparison between Score for Neonatal Acute Physiology-Perinatal Extension II (SNAP-PE II) and Clinical Risk Index for Babies (CRIB) in Prediction of Neonatal Mortality in Neonatal Intensive Care Unit (NICU) of Tanta University Hospital

AbstractBackground: Survival of the newborns who are admitted to the NICUs do not depend exclusively on birth weight and gestational age, but also on other perinatal factors and phys-iological conditions of the individual infants, in particular severity of their disease. More than one decade ago, the score for the neonatal acute physiology (SNAP), later the SNAP-perinatal extension (SNAP-PE) scores and clinical risk index for babies (CRIB) scores were proposed to be used in assessing severity, with sufficient precision to allow their application for quality assessment.Aim of Study: Was to compare between two neonatal mortality risk scores, SNAP-PE II and CRIB, in predicting the neonatal mortality in NICU of Tanta University Hospital (TUH ) over a period of one year and to measure the incidence of neonatal deaths in NICU of TUH over a period of one year.Patients and Methods: This was a prospective cohort study which was carried out on 500 newborns admitted to NICU of TUH over 1 year period. (From February 2016 to February 2017). All neonates were followed-up in NICU till their death or discharge. Neonates who had one of the following criteria were excluded: Newborn who died or was discharged in less than 24 hours after admission to our NICU, Infants whose APGAR score was not known, those who were admitted for observational purposes and those with were inevitably lethal congenital malformations. SNAP-PE II and CRIB scores applied to all the neonates in this study during the first 12 hours after their admission to NICU.Results: Area under the curve of both scores was nearly similar, meaning accuracy of both of them in predicting neonatal mortality.Conclusion: Both SNAP-PE II and CRIB scores have good sensitivity for predicting neonatal mortality which was slightly higher in SNAP-PE II score.

Neonatal Outcomes in Extremely Preterm Newborns Admitted to Intensive Care after No Active Antenatal Management: A Population-Based Cohort Study

To evaluate the association between active antenatal management and neonatal outcomes in extremely preterm newborns admitted to a neonatal intensive care unit (NICU). This population-based cohort study was conducted in 25 regions of France. Infants born in 2011 between 220/7 and 266/7 weeks of gestation and admitted to a NICU were included. Infants with lethal congenital malformations or death in the delivery room were excluded. A multilevel multivariable analysis was performed, accounting for clustering by mother (multiple pregnancies) and hospital plus individual characteristics, to estimate the association between the main exposure of no active antenatal management (not receiving antenatal corticosteroids, magnesium sulfate, or cesarean delivery for fetal indications) and a composite outcome of death or severe neonatal morbidity (including severe forms of brain or lung injury, retinopathy of prematurity, and necrotizing enterocolitis). Among 3046 extremely preterm births, 783 infants were admitted to a NICU. Of these, 138 (18%) did not receive active antenatal management. The risk of death or severe morbidity was significantly higher for infants without active antenatal management (crude OR, 2.60; 95% CI, 1.44-4.66). This finding persisted after adjustment for gestational age (OR, 2.08; 95% CI, 1.19-3.62) and all confounding factors (OR, 1.86; 95% CI, 1.09-3.20). The increased risk of severe neonatal outcomes for extremely preterm babies admitted to a NICU without optimal antenatal management should be considered in individual-level decision making and in the development of professional guidelines for the management of extremely preterm births.

Survival and healthcare utilization of infants diagnosed with lethal congenital malformations.

We assessed survival, hospital length of stay (LOS), and costs of medical care for infants with lethal congenital malformations, and also examined the relationship between medical and surgical therapies and survival. Retrospective cohort study including infants born 1998-2009 with lethal congenital malformations, identified using a longitudinally linked maternal/infant database. The cohort included 786 infants: trisomy 18 (T18, n = 350), trisomy 13 (T13, n = 206), anencephaly (n = 125), bilateral renal agenesis (n = 53), thanatophoric dysplasia/achondrogenesis/lethal osteogenesis imperfecta (n = 38), and infants > 1 of the birth defects (n = 14). Compared to infants without birth defects, infants with T18, T13, bilateral renal agenesis, and skeletal dysplasias had longer survival rates, higher inpatient medical costs, and longer LOS. Care practices and survival have changed over time for infants with T18, T13, bilateral renal agenesis, and skeletal dysplasias. This information will be useful for clinicians in counseling families and in shaping goals of care prenatally and postnatally.

A rare case of a fetal neural tube defect: Iniencephaly

Iniencephaly is characterized by severe retro flexion of the head with the absence of neck due to spinal vertebrae deformities, it is considered as uncommon anomaly. Prevalence: 0.1-10:10,000, M:F. Etiology: Unknown, but genetic, environmental factors are implicated. Pathogenesis: Unknown. Recurrence risk: 1-4%. Associated anomalies: Anencephaly, encephalocele, cyclopedia, lack of lower jaw bone, cleft palate, arthrogryposis, clubfeet, holoprosencephaly, spina bifida, lung hypoplasia, omphalocele, gastroschisis, cardiovascular disorders, Congenital diaphragmatic hernias, gastrointestinal atresia, single umbilical artery and renal abnormalities. Conclusion: Iniencephaly is a lethal congenital neural tube malformation. It is characterized by occipital bone defect, fixed retroflexion of the fetal head and severe lordosis of the cervicothoracic spine. Differential diagnosis: Include anencephaly with cervical spinal retro flexion and Klippel-Fiel syndrome

The Change of Perinatal Mortality Over Three Decades in a Reference Centre in the Aegean Region: Neonatal Mortality has decreased but Foetal Mortality Remains Unchanged.

Background:Perinatal, foetal and neonatal mortality statistics are important to show the development of a health care system in a country. However, in our country there are very few national and regional data about the changing pattern of perinatal neonatal mortality along with the development of new technologies in this area.Aims:Evaluation of the changes in mortality rates and the causes of perinatal and neonatal deaths within years in a perinatal reference centre which serves a high-risk population.Study Design:Cross-sectional retrospective study.Methods:The perinatal, neonatal and foetal mortality rates in the years 1979-1980 (1st time point) and 1988-1989 (2nd time point) were compared with the year 2008 (3rd time point). The causes of mortality were assessed by Wigglesworth classification and death reports. The neonatal mortality in the neonatal intensive care unit was also calculated.Results:Foetal mortality rates were 44/1000, 31.4/1000 and 41.75/1000 births, perinatal mortality rates were 35.6/1000, 18.8/1000 and 9/1000 births, and neonatal mortality rates were 35.6/1000, 18.8/1000 and 9/1000 live births for the three study time points, respectively. The mortality rate in neonatal intensive care unit decreased consistently from 33%, to 22.6% and 10%, respectively, together with decreasing neonatal mortality rates. The causes of perinatal deaths were foetal death 85%, immaturity 4%, and lethal congenital malformations 8% according to Wigglesworth classification in 2008, showing the high impact of foetal deaths on this high perinatal mortality rate. Infectious causes of neonatal deaths decreased but congenital anomalies increased in the last decades.Conclusion:Although neonatal mortality rate decreased significantly; foetal mortality rate has stayed unchanged since the late eighties. In order to decrease foetal and perinatal mortality rates more efficiently, reducing consanguineous marriages and providing better antenatal care for high risk pregnancies are needed.

Cyclopia: isolated and with agnathia–otocephaly complex

Cyclopia is a rare form of lethal holoprosencephaly (HPE) due to incomplete cleavage of prosencephalon during embryogenesis, leading to failure of the orbits of the eye to divide into two...