"Lethal anomalies"

INTRODUCTION: Fraser syndrome, named after George Fraser, is an autosomal recessive disorder showing a highly variable interfamilial phenotypic variation, with malformations ranging from minor symptoms to lethal anomalies like renal agenesis, incompatible with survival. Limb reduction defects have not been reported to be associated with it. CASE PRESENTATION: A 21-year-old primigravida presented to the antenatal outpatient department with a level two targeted anomaly scan report suggestive of severe oligohydramnios with suspected renal agenesis...

INTRODUCTION: This study investigated the impact of the shared intertwin circulation in unequally divided monochorionic (MC) placentas on fetal growth. METHODS: This retrospective analysis included color-dyed, unequally shared placentas from two tertiary centers. Exclusions included twin-twin transfusion syndrome, twin anemia polycythemia sequence, and lethal anomalies. Measurement of the external diameters and areas of the artery-to-artery (AA), artery-to-vein (AV), and vein-to-vein (VV) anastomoses was performed...

UNLABELLED: Acalvaria is a rare congenital malformation characterized by the absence of bones and related muscles in a section of the skull. The number of reported cases in the literature is quite low, and it is generally considered a fatal malformation. We present a case of a newborn diagnosed with acalvaria malformation along with a review of the literature, emphasizing the importance of distinguishing this rare condition from malformations such as anencephaly, exencephaly and acrania...

BACKGROUND: Aphallia (absent penis) is an extremely rare congenital anomaly happening in 1 in 30 million births worldwide. It can occur alone or in combination with other congenital anomalies. CASE PRESENTATION: A two-day-old neonate presented to Arba Minch General Hospital with an absent penis. The delivery was performed at home by a 34-year-old primigravida mother with no antenatal follow-up. As the mother described, the baby cried immediately after birth. The baby was sucking initially but failed to suck hours after delivery...

INTRODUCTION: Neonatal deaths account for the majority of deaths in the first year of life. Life-threatening apnoea or cardiovascular collapse needs cardiopulmonary resuscitation. Technological advancements, such as the administration of antepartum steroids, replacement of surfactants, nasal continuous positive airway pressure, and mechanical ventilation have led to improved neonatal survival, especially for premature neonates. The aim of this study was to find out the mean duration of mechanical ventilation among newborns admitted to the Neonatal Intensive Care Unit in a tertiary care centre...

BACKGROUND: Congenital anomalies (CAs) increase the risk of death during infancy and childhood. This study aimed to evaluate the accuracy of using death certificates to estimate the burden of CAs on mortality for children under 10 years old. METHODS: Children born alive with a major CA between 1 January 1995 and 31 December 2014, from 13 population-based European CA registries were linked to mortality records up to their 10th birthday or 31 December 2015, whichever was earlier...

OBJECTIVE: To assess the influence of a national prenatal screening program on category 1 (lethal anomalies) late terminations of pregnancy (LTOP). METHODS: In this population-based retrospective cohort study we included all category 1 LTOPs from 2004 until 2015 in the Netherlands. The number of LTOPs before and after the introduction of the program were compared as well as the diagnostic process and factors contributing to LTOP. RESULTS: In total, 97 LTOPs were reported...

OBJECTIVES: Missouri passed an 8-week gestational age abortion in August 2019. The objective of this study was to compare distance and time from referral to evaluation between patients who continued their pregnancy and those who terminated in patients with severe and lethal fetal anomalies and estimate the impact of the Missouri gestational age abortion ban on distance to abortion care in this patient population. METHODS: This is a retrospective cohort study of patients seen at the Washington University in St...

Introduction The advent of novel fetal interventions has increased interest in fetal intervention for previously "lethal" anomalies such as bilateral renal agenesis or other congenital anomalies of the kidney and urinary tract (CAKUT) associated with in utero renal failure. While there have been rare reports of successful births following intervention in these cases, there is a paucity of data regarding the risks, benefits, and outcomes of intervention. To address this gap, this study presents our experience with fetal intervention for anatomic or functional renal agenesis...

Alobar holoprosencephaly is a congenital malformation that results from failure of the forebrain/prosencephalon to divide into right and left halves. Despite the literature on the genetic and chromosomal abnormalities associated with this condition, information on additional causes and explanations for variability in phenotypic expressivity are lacking. We report a case of early-onset intrauterine growth retardation with alobar holoprosencephaly, ethmocephaly, and hydronephrosis diagnosed on antenatal ultrasonography in a 27-year-old primigravida with no known risk factors or family history...

Introduction: Otocephaly is a rare malformation characterized by agnathia (absence of the mandible), melotia (medially displaced ear pinna), aglossia (absence of the tongue) and microstomia (small oral aperture). This results due to failure of migration of the neural crest cells and is a defect of the first branchial arch. It is incompatible with life and early prenatal diagnosis is useful. Case Report: Our patient a primigravida with 19 weeks 6 days gestation was referred for micrognathia and polyhydramnios...

BACKGROUND: The rate of termination of pregnancy (TOP) for fetal anomalies and the factors affecting TOP vary among different populations. Optimisation of prenatal care and counselling requires understanding the factors influencing parental decisions in the relevant population. This study aimed to evaluate the rate of TOP after diagnoses of major fetal anomalies and assess factors associated with TOP-related decisions at a university hospital in Thailand. METHODS: A retrospective chart review was conducted at the Fetal Anomaly Clinic of Ramathibodi Hospital, Bangkok, Thailand...

BACKGROUND: Although outcomes for infants born extremely low birthweight (ELBW; <1000 g birthweight) have improved over time, it is important to document survival and morbidity changes following the advent of modern neonatal intensive care in the 1990s. OBJECTIVE: To describe trends in survival, perinatal outcomes and neurodevelopment to 2 years' corrected age over time across six discrete geographic cohorts born ELBW between 1979 and 2017. METHODS: Analysis of data from discrete population-based prospective cohort studies of all live births free of lethal anomalies with birthweight 500-999 g in the state of Victoria, Australia, over 6 eras: 1979-80, 1985-87, 1991-92, 1997, 2005 and 2016-17...

The aim of the current study was to determine the frequency of concomitant anomalies in foetal thoracic hypoplasia and the neonatal outcomes of these pregnancies. This retrospective study included 49 cases of foetal thoracic hypoplasia. All of the cases had skeletal system anomalies. Head and face anomalies (36.7%) were the second most frequent accompanying foetal anomaly, and the least common anomaly was genital system anomalies (4.1%). During the follow-ups, 52.6% ( n  = 10) of the newborns died in the first 24 h of life, 10...

Infant deaths and old age deaths are very different. The former are mostly due to severe congenital malformations of one or a small number of specific organs. On the contrary, old age deaths are largely the outcome of a long process of deterioration which starts in the 20s and affects almost all organs. In terms of age-specific death rates, there is also a clear distinction: the infant death rate falls off with age, whereas the adult and old age death rate increases exponentially with age in conformity with Gompertz's law...

Body stalk anomaly is a rare abnormality characterized by an abdominal wall defect with evisceration of abdominal organs, severe kyphoscoliosis, and a very short or absent umbilical cord. Ectopia cordis (EC) is a rare, lethal anomaly characterized by complete or partial malpositioning of the heart outside of the thorax. A 28-year-old healthy primigravida was referred to our department to undergo a nuchal translucency thickness scan at 12 weeks' gestation. The scan revealed typical features of body stalk anomaly and EC...

BACKGROUND: Umbilical cord occlusion via radiofrequency ablation (RFA) is utilized to maximize outcomes of the co-twin in complicated multifetal monochorionic (MC) gestations. However, post-procedure co-twin fetal demise is of concern. OBJECTIVE: The aim of this study was to determine risk factors for co-twin fetal demise following RFA. METHODS: This is a retrospective study of MC multiples that underwent RFA. Indications for RFA included twin reversed arterial perfusion (TRAP) sequence, selective fetal growth restriction (sFGR) type II, discordant lethal anomalies, and twin-twin transfusion syndrome (TTTS) with proximate placental cord insertion sites...

Adams-Oliver syndrome (AOS) is a rare congenital disorder characterised by a wide variety of clinical expression ranging from the occurrence of aplasia cutis congenita (ACC), transverse limb defects, and cutis marmorata telangiectica to extensive lethal anomalies. In this article, we present the conservative and surgical management of a male newborn infant diagnosed with AOS. Surgical treatment included wound management, the removal of protruding brain, and treatment of cerebrospinal fluid (CSF) leakage. After spontaneous reepithelization of the wounds, conservative treatment was chosen instead of reconstruction with an occipital flap; this was continued until the total healing of the dermal defect after eight months, during which the patient was continuously treated with antibiotics...

BACKGROUND: Agnathia-otocephaly is a rare and lethal anomaly affecting craniofacial structures derived from the first pharyngeal arch. It is characterized by agnathia, microstomia, aglossia, and abnormally positioned auricles with or without associated anomalies. Variants affecting function of OTX2 and PRRX1, which together regulate the neural crest cells and the patterning of the first pharyngeal arch as well as skeletal and limb development, were identified to be causal for the anomaly in a few patients...

Sirenomelia is a rare congenital anomaly characterized by the presence of a median single lower appendage. The affected fetus is popularly referred to as a "Mermaid baby," due to the uncanny resemblance to the fictious fable character. The manifestation is a result of the merger of the lower limbs with variable fusion or complete absence of bones. Sirenomelia is universally fatal due to the associated lethal anomalies involving the internal organs, which are usually part of the VACTER or VACTERL complex...