Lethal Malformations Research Articles

Genetic signatures of population bottlenecks, relatedness, and inbreeding highlight recent and novel conservation concerns in the Egyptian vulture.

The assessment of temporal variation in genetic features can be particularly informative on the factors behind demography and viability of wildlife populations and species. We used molecular methods to evaluate neutral genetic variation, relatedness, bottlenecks, and inbreeding in a declining population of Egyptian vulture (Neophron percnopterus) in central Spain. The results show that the genetic diversity remained relatively stable over a period of twelve years despite the decline in census and effective population sizes in the last decades. A relatively high proportion of nestlings from different and distant territories showed high relatedness in each study year. We also found support for an increasing impact of severe recent (contemporary) rather than distant (historical) past demographic bottlenecks, and the first evidence of inbred mating between full siblings coinciding with lethal malformations in offspring. The inbred nestling with feather malformations was positive to beak and feather disease virus recorded for the first time in this species. These results alert on recent and novel threats potentially affecting health and reducing the adaptive potential of individuals in this threatened species.

Early detection of Fetal Acrania on first-trimester sonography: a case report

Introduction. Fetal Acrania is a rare fetal malformation characterized by the complete or partial absence of a skull covering the fetal brain. In the absence of a hard covering of the soft brain tissue, Acrania is known as a universally lethal malformation. Here we present a Fetal Acrania case detected by sonographic examination at our Center.
 Case Description. A 36 years old female was referred to the obstetric department to undergo an in-depth sonographic evaluation as a previous examination reveals a potential congenital fetal anomaly. Our sonographic evaluation revealed a singleton, live fetus, 12 weeks gestational age in cephalic presentation and longitudinal lie. One obvious malformation was a well-formed fetal brain without the surrounding cranium (Acrania). The absence of cranium was the main and only malformation. The absence of cranium was evident as the fetal brain was easily compressed on probe pressure, and the brain appeared like floating in the amniotic fluid over the base of the skull. Therapeutic abortion was carried out. The termination was conducted by administering four tablets of 200 mcg misoprostol sublingually and repeated 24 hours later. No adverse reaction or complication on termination. The aborted fetal examination confirmed the lack of fetal cranium.
 Conclusion. Although seemingly obvious, the first-trimester diagnosis of fetal Acrania must be made with caution as the fetal cranium is not fully calcified before 10- 11 weeks. As Acrania is a universally lethal malformation, therapeutic abortion is indicated.

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.

A CASE REPORT ON IMPACT OF PRE-GESTATIONAL DIABETES MELLITUS ON PREGNANCY OUTCOME IN A WOMEN WITH BAD OBSTETRIC HISTORY

Background Perinatal and neonatal mortality remains a challenge in the care of pregnant women worldwide, particularly for those who had a history of adverse outcome in previous pregnancies. Bad Obstetric History implies previous unfavorable fetal outcome in terms of two or more consecutive spontaneous abortion, H/O intrauterine fetal death, intrauterine growth restriction, stillbirth, early neonatal death and/or congenital anomalies. Age, obesity and high parity have been shown to be independent risk factors for recurrent pregnancy loss and stillbirths. About 3 to 10% of pregnancies are complicated by glycemic control abnormalities. The main underlying cause is lethal embryonic malformations due to glucose teratogenicity at high levels if diabetes is poorly controlled in the periconceptional period and first trimester.

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.

Body stalk anomaly presenting as an emergency in Ethiopia: a case report

BackgroundBody stalk anomaly is a generally lethal malformation of the thorax and/or abdomen. It is often associated with limb defects. The intrathoracic and abdominal organs lie outside the abdominal cavity. These are contained within a sac composed of amnioperitoneal membrane attached directly to the placenta. The umbilical cord may be totally absent or extremely shortened. Severe kyphoscoliosis is often present. This case is reported to highlight this rare malformation and its clinical presentation.Case presentationWe present a case of a 27-year-old primigravida Oromo woman who had been amenorrheic for 9 months. She presented with an urge to bear down of 10 hours and passage of liquor of the same duration. The patient was referred from a district primary hospital with a diagnosis of preterm labor and hand prolapse. A lower uterine segment cesarean section was performed at Jimma University Medical Center for an indication of active first stage of labor with nonreassuring fetal heart rate pattern (fetal bradycardia) and hand prolapse to effect an anomalous fetus that had only a rudimentary right lower extremity and liver and intestine found outside the abdominal cavity contained within a sac composed of transparent membrane attached directly to the placenta. The umbilical cord was very short, measuring about 7 cm. The fetus had severe scoliosis. It also had a heartbeat upon extraction, which stopped after 5 minutes of delivery. The placenta and fetal body parts together weighed 2400 g.ConclusionTermination of pregnancy is usually offered because this abnormality is generally considered lethal. If the pregnancy is continued undetected as in our patient’s case, vaginal delivery is recommended, given the highly lethal nature of this anomaly. Good prenatal screening and counseling are recommended for early detection and management.

SMFM Fetal Anomalies Consult Series #3: Intracranial Anomalies

Intracranial anomalies are among the most common congenital birth defects. They range from severe and lethal malformations, which are often amenable to prenatal diagnosis during the first to early second trimesters of pregnancy, to more subtle anomalies that may only be detected during the second to third trimesters of pregnancy.

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.

Dual independent genetic etiologies in a lethal complex malformation phenotype.

Dual independent genetic etiologies in a lethal complex malformation phenotype.

The Accuracy of Clinical Risk Index for Babies (CRIB-II) for Predicting Mortality of Severely-ill Preterm Neonates

Background: In Pakistan neonatal mortality rate is 47.3 among 1000 live births. Predictors of neonatal mortality risk can be used to prioritize the care for neonates and to improve the outcome. Objective: To determine the accuracy of clinical risk index for babies (CRIB-II) for predicting mortality of severely ill preterm neonates. Study Design: A Cross Sectional Study. Settings: NICU, Department of Pediatrics Unit I and Unit II, Mayo Hospital, Lahore Pakistan. Duration: From January 22, 2016 to July 30, 2016. Methodology: 200 cases fulfilling the selection criteria (Gestational age 26­34 weeks, Preterm admitted in NICU within 12 hours of birth), were included in the study by nonprobability, Consecutive Sampling. Babies with lethal malformations were excluded. Data required for CRIB II score was collected and analyzed by SPSS. Results: Out of the 200 cases, 102 patients were male (51 %). Age varies from 1 hour to 9 hours of life with mean of 5.8. Gestational age ranges from 28 weeks to 33 weeks with mean age is 30 weeks. Patients had following diagnosis with number of cases: Respiratory distress syndrome 54; Early onset sepsis 30; PT, JNN, EOS 22; Mild Asphyxia 18; Prematurity 14; RDS, EOS 14; Moderate Asphyxia 10; prematurity, Jaundice neonatorum 8; IUGR 8; Early onset sepsis, DIC 4; PT, NEC, EOS 4. CRIB score has sensitivity of 77.7 %, specificity of 65.4 %. It has positive predictive value of 64.8 %, negative predictive value of 78.2 % & clinical accuracy of 71%. Conclusion: CRIB II score has clinical accuracy of 71 % determining prognosis of severely ill preterm neonates in term of mortality.

Is perinatal asphyxia predictable?

BackgroundThe objective of our study was to evaluate the association between perinatal asphyxia and hypoxic-ischemic encephalopathy (HIE) with the presence of ante and intrapartum risk factors and/or abnormal fetal heart rate (FHR) findings, in order to improve maternal and neonatal management.MethodsWe did a prospective observational cohort study from a network of four hospitals (one Hub center with neonatal intensive care unit and three level I Spoke centers) between 2014 and 2016. Neonates of gestational age ≥ 35 weeks, birthweight ≥1800 g, without lethal malformations were included if diagnosed with perinatal asphyxia, defined as pH ≤7.0 or Base Excess (BE) ≤ − 12 mMol/L in Umbical Artery (UA) or within 1 h, 10 min Apgar < 5, or need for resuscitation > 10 min.FHR monitoring was classified in three categories according to the American College of Obstetricians and Gynecologists (ACOG). Pregnancies were divided into four classes: 1) low risk; 2) antepartum risk; 3) intrapartum risk; 4) and both ante and intrapartum risk.In the first six hours of life asphyxiated neonates were evaluated using the Thomson score (TS): if TS ≥ 5 neonates were transferred to Hub for further assessment; if TS ≥ 7 hypothermia was indicated.ResultsPerinatal asphyxia occurred in 21.5‰ cases (321/14,896) and HIE in 1.1‰ (16/14,896). The total study population was composed of 281 asphyxiated neonates: 68/5152 (1.3%) born at Hub and 213/9744 (2.2%) at Spokes (p < 0.001, OR 0.59, 95% CI 0.45–0.79). 32/213 (15%) neonates were transferred from Spokes to Hub. Overall, 12/281 were treated with hypothermia. HIE occurred in 16/281 (5.7%) neonates: four grade I, eight grade II and four grade III. Incidence of HIE was not different between Hub and Spokes.Pregnancies resulting in asphyxiated neonates were classified as class 1) 1.1%, 2) 52.3%, 3) 3.2%, and 4) 43.4%. Sentinel events occurred in 23.5% of the cases and FHR was category II or III in 50.5% of the cases. 40.2% cases of asphyxia and 18.8% cases of HIE were not preceded by sentinel events or abnormal FHR.ConclusionsWe identified at least one risk factor associated with all cases of HIE and with most cases of perinatal asphyxia. In absence of risk factors, the probability of developing perinatal asphyxia resulted extremely low. FHR monitoring alone is not a reliable tool for detecting the probability of eventual asphyxia.

A de novo variant in OTX2 in a lamb with otocephaly

BackgroundOtocephaly is a rare lethal malformation of the first branchial arch. While the knowledge on the causes of otocephaly in animals is limited, different syndromic forms in man are associated with variants of the PRRX1 and OTX2 genes.Case presentationA stillborn male lamb of the Istrian Pramenka sheep breed showed several congenital craniofacial anomalies including microstomia, agnathia, aglossia, and synotia. In addition, the lamb had a cleft palate, a small opening in the ventral neck region, a cystic oesophagus and two hepatic cysts. The brain was normally developed despite the deformed shape of the head. Taken together the findings led to a diagnosis of otocephaly. Whole-genome sequencing was performed from DNA of the affected lamb and both parents revealing a heterozygous single nucleotide variant in the OTX2 gene (Chr7: 71478714G > A). The variant was absent in both parents and therefore due to a de novo mutation event. It was a nonsense variant, XM_015097088.2:c.265C > T; which leads to an early premature stop codon and is predicted to truncate more than 70% of the OTX2 open reading frame (p.Arg89*).ConclusionsThe genetic findings were consistent with the diagnosis of the otocephaly and provide strong evidence that the identified loss-of-function variant is pathogenic due to OTX2 haploinsufficiency. The benefits of trio-based whole-genome sequencing as an emerging tool in veterinary pathology to confirm diagnosis are highlighted.

La trisomie 18 ou syndrome d´Edwards en post-natal: étude descriptive au Centre Hospitalière Universitaire de Casablanca et revue de littérature

La trisomie 18 est une maladie chromosomique, dû à la présence d'un chromosome 18 surnuméraire. Les nourrissons atteints de trisomie 18 ont un taux de mortalité élevé, secondaire aux malformations létales associées à ce syndrome. L´objectif de cette étude est de décrire les caractéristiques cliniques et cytogénétiques de ces patients, ainsi que l´intérêt du conseil génétique. C´est une étude descriptive transversale réalisée sur une période de 5 ans, allant de juillet 2015 à avril 2019. L´étude a concerné les patients suivis au service de génétique médicale du Centre Hospitalier Universitaire (CHU) Ibn Rochd de Casablanca et présentant des anomalies évoquant la trisomie 18, et confirmé par étude cytogénétique. Il s´agit de 5 patients atteints du syndrome d´Edwards, suspectés cliniquement, puis confirmé à l´étude cytogénétique, avec une prédominance féminine; 3 filles et 2 garçons (sex-ratio = 0,67). L´âge moyen au moment du diagnostic était de 37,40 ± 23,98 jours (9 jours-2 mois). La trisomie 18 a été évoquée cliniquement dans deux cas devant une dysmorphie faciale et un syndrome malformatif caractéristiques de l´anomalie chromosomique, alors que deux patientes étaient hospitalisées en unité de soins intensifs pour insuffisance cardiaque décompensée, sur cardiopathie congénitale, et un patient a présenté une détresse respiratoire néonatale sur un syndrome poly malformatif, au moment du diagnostic. L´étude cytogénétique réalisée a confirmé le diagnostic de trisomie 18 libre et homogène chez les cinq patients, puis un conseil génétique a été réalisé. La prévalence de la trisomie 18 est variable. Au niveau mondial, on estime la prévalence 1/6000 naissances vivantes, les plus touchées étant celles du sexe féminin. Le diagnostic de trisomie 18 peut être suspecté à la naissance chez un nouveau-né présentant une dysmorphie crânio-faciale caractéristique, et une position du « suppliant » des bras, mains avec des doigts en flexion permanente, l´index chevauchant le 3e doigt, l´auriculaire chevauchant le 4e doigt. Il existe plusieurs malformations associées à la trisomie 18. Le syndrome est également évoqué en anténatal en cas de présence d´anomalies à l´échographie obstétricale. Par ailleurs, la survie est faible et seul un nouveau-né sur 10 atteint la première année de vie.

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.

Objeción de conciencia: entre libertades y derechos

La Ley 21.030 de Chile despenalizó la interrupción voluntaria del embarazo en tres causales (riesgo de vida de la mujer, malformación de carácter letal del feto y embarazo producto de violación), e introdujo por primera vez en la legislación del país, el derecho a la objeción de conciencia de los equipos clínicos que participan directamente de los procedimientos de vaciamiento uterino de las gestaciones en que concurre alguna de las tres situaciones consideradas en la Ley. Esta Ley tuvo un amplio debate social y legislativo, y a un año de su implementación podemos observar con preocupación, que la objeción de conciencia de los equipos clínicos se alza como la principal barrera de acceso a las prestaciones de salud a las cuales tienen derechos las mujeres en estas situaciones en Chile.1,2 El presente artículo espera aportar al debate nacional sobre el rol de los profesionales de salud ante el nuevo escenario jurídico-sanitario, donde el equilibrio entre las libertades personales de los profesionales y el legítimo derecho de las mujeres a poder acceder a los servicios definidos en la Ley 21.030 estén en el centro de la discusión, y se expresan como una oportunidad o definitivamente una amenaza al estado de derecho, es decir a nuestra democracia

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.

Hypoplasia of ribs associated with cleft palate, cleft lip, and unilateral renal agenesis in a neonate dog of undefined breed

Congenital defects can cause changes in the normal function or morphology of organs, thus contributing to neonatal mortality. Malformations in dogs occur as a result of genetic factors or by the action of teratogenic agents during pregnancy. Genetic defects can be inherited from one or both parents. These defects are more common in purebred puppies or can even be the result of consanguinity. Teratogenic agents, such as toxins, drugs, infectious diseases, mechanical influences, and irradiation, may affect the litters during gestational development. Hypoplasia of ribs has been described in human newborns. It is a rare and lethal malformation of autosomal recessive inheritance that prevents thoracic expansion and reduces pulmonary compliance, causing respiratory failure. A pregnant bitch of undefined breed was submitted to caesarean section. At birth, a neonate exhibited respiratory distress, and the palpation of the thorax indicated absence of ribs. In addition, the newborn had cleft palate and cleft lip, which led to perform the euthanasia of the animal. Post-mortem examination indicated hypoplasia of ribs and unilateral renal agenesis. As in the canine neonate, hypoplasia of ribs in human newborns is also associated with other malformations, such as cleft lip, cleft palate, and urogenital defects. The present report describes the first case of hypoplasia of ribs associated with other malformations in a canine neonate, the cause being possibly related to a genetic hereditary factor.

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.