Fetal Autopsy Research Articles

A Medico Legal Study of Fetal Deaths in and Around Guntur

Introduction: There are quite a number of foetal deaths occurring in the developing country like India due to low socio economic status, illiteracy, ignorance, lack of interest, concealment of the birth, having female child etc. This is despite the fact that these occurrences are a world- wide phenomenon and by definition involve criminal law concerns such as illegal abortion, concealment of birth, murder, or neonaticide and abandonment of babies. This study is to make comprehensive and analytical study of various medico legal aspects of foetal and infant deaths in and around Guntur district during the period of 2013-2015.Materials and methods: This is a three year retrospective study of autopsies done on the foetus and infants at the Department of Forensic Medicine, GMC/GGH Mortuary, Guntur from 2013 to 2015. Inquest and autopsy findings are analyzed to evaluate demographic profile and various socio-economic factors contributing to the foetal deaths, the pattern of injuries, manner & cause of death of the foetuses, neonates and infants. Observations and conclusion: Total number of cases of foetal autopsy amounts to around 1.2 % of total autopsy during the study period but in the study, relatively large number i.e., 50% of cases of abortuses, foetuses and newborns indicated that the manner had been homicidal or death by abandonment. Female foetal autopsies amounted to about 52% of total foetal autopsies and homicidal male foetal deaths are 56% of total homicidal foetal deaths. This study is helpful to the investigating authorities to identify such cases for further investigation of the cases.

White matter abnormalities and iron deposition in prenatal mucolipidosis IV- fetal imaging and pathology.

Mucolipidosis type IV (MLIV; OMIM 252,650) is an autosomal recessive lysosomal disorder caused by mutations in MCOLN1. MLIV causes psychomotor impairment and progressive vision loss. The major hallmarks of postnatal brain MRI are hypomyelination and thin corpus callosum. Human brain pathology data is scarce and demonstrates storage of various inclusion bodies in all neuronal cell types. The current study describes novel fetal brain MRI and neuropathology findings in a fetus with MLIV.Fetal MRI was performed at 32 and 35weeks of gestation due to an older sibling with spastic quadriparesis, visual impairment and hypomyelination. Following abnormal fetal MRI results, the parents requested termination of pregnancy according to Israeli regulations. Fetal autopsy was performed after approval of the high committee for pregnancy termination. A genetic diagnosis of MLIV was established in the fetus and sibling. Sequential fetal brain MRI showed progressive curvilinear hypointensities on T2-weighted images in the frontal deep white matter and a thin corpus callosum. Fetal brain pathology exhibited a thin corpus callosum and hypercellular white matter composed of reactive astrocytes and microglia, multifocal white matter abnormalities with mineralized deposits, and numerous aggregates of microglia with focal intracellular iron accumulation most prominent in the frontal lobes. This is the first description in the literature of brain MRI and neuropathology in a fetus with MLIV. The findings demonstrate prenatal white matter involvement with significant activation of microglia and astrocytes and impaired iron metabolism.

Causal analysis of fetal death in high-risk pregnancies.

To determine the causes of fetal death among the stillbirths using two classification systems from 22weeks of gestation in a period of three years in high-risk pregnancies. This is a retrospective observational study. The National Institute of Perinatal Health in Mexico City is a Level 3 care referral center attending high-risk pregnancies from throughout the country. The population consisted of patients with fetal death during a three-year period. Between January 2016 and December 2018, all stillbirths were examined in the Pathology Department by a pathologist and a medical geneticist. Stillbirth was defined as a fetal death occurring after 22weeks of gestation. Main outcome measures: Causal analysis of fetal death using the International Statistical Classification of Disease and Related Health Problems-Perinatal Mortality (ICD-PM) and initial causes of fetal death (INCODE) classification systems. A total of 297 stillborn neonates were studied. The distribution of gestational age in antepartum stillbirths (55.2%) showed a bimodal curve, 36% occurred between 24 and 27weeks and 32% between 32 and 36weeks. In comparison, the majority (86%) of intrapartum deaths (44.8%) were less than 28weeks of gestation. Of the 273 women enrolled, 93 (34%) consented to a complete fetal autopsy. The INCODE system showed a present cause in 42%, a possible cause in 54% and a probable cause in 93% of patients. The principal causes of antepartum death were fetal abnormalities and pathologic placental conditions and the principal causes of intrapartum death were complications of pregnancy which caused a premature labor and infections.

Relevance of data homogeneity and fetal post-mortem MRI in congenital brain malformations.

MR imaging is of ever-growing interest in the obstetric community and post-mortem confirmation is crucial in the improvement of this technique. Griffiths et al. assessed the concordance between fetal MRI and brain autopsy in fetuses of the MERIDIAN cohort that ended in termination of pregnancy (BJOG 2020 xxxx).

Prenatal Ultrasonographic Molar Tooth Sign: Case Reports and Review of Literature

AbstractJoubert Syndrome and Related Disorders (JSRD) refers to all disorders presenting as “molar tooth sign” (MTS) on brain imaging. Fetuses with JSRD present with relatively nonspecific signs on prenatal ultrasound varying from increased nuchal translucency, enlarged cisterna magna, cerebellar vermian agenesis, occipital encephalocele, ventriculomegaly, renal disease and polydactyly. However, the hallmark sign in the diagnosis is MTS and MRI is the imaging modality of choice. We report two cases in which MTS was identified on prenatal ultrasound at 22 and 21 weeks (wk) of gestational age respectively. The other prenatal findings on ultrasound included polydactyly and anteroposteriorly enlarged 4th ventricle and vermian hypoplasia in both, and, aortic stenosis evolving to hypoplastic left heart in the former. Prenatal MRI was not done. Amniocentesis was done in the one with associated cardiac anomaly which was reported as normal. In both cases, the couple opted for termination of pregnancy and declined fetal autopsy and further mutation analysis. Only a few cases of JSRD diagnosed on prenatal ultrasound, have been reported. Due to the autosomal recessive inheritance (with 25% recurrence) JSRD has to be differentiated from Dandy-Walker malformation and cranio-cerebello-cardiac syndrome. As definitive prenatal genetic testing may not be conclusive in Joubert syndrome (JBTS) due to the large number of pathogenic variants and genetic heterogenicity, the ability to identify the MTS sonographically early provides a valuable adjunct to prenatal diagnosis.

Prenatal Diagnosis of Radial Ray Defect Associated with Fanconi Anemia: a Case Report

AbstractFanconi anemia (FA) is a rare genetic disorder with multisystem involvement. Confirmatory genetic testing is possible by diagnostic clues on examination of the proband within the differential diagnosis. We describe a fetus with radial ray defect in a primigravida. Cytogenetic testing for breakages confirmed Fanconi anemia as the etiology. Molecular testing by next generation sequencing did not reveal a point change in any of the twenty-one genes known to be associated with FA. A confirmed fetal autopsy phenotype and the cytogenetic report allowed for the identification of a homozygous deletion of exon 4–6 in the FANCC gene on re-analysis of the molecular dataset. This case exemplifies the utility of a step wise approach to the diagnosis of prenatally diagnosed radial ray defects and the importance of genetic counseling and prenatal testing.

1088 Prenatal diagnosis of TBC1D32-associated disease by exome sequencing: Further evidence of a new syndrome

Prenatal exome sequencing is increasingly utilized to determine the etiology of congenital anomalies. It also provides an opportunity to identify novel candidate genes critical to human development due to the extreme phenotypes often identified prenatally. We present four new cases associated with variants in TBC1D32, a novel candidate gene for Orofacial Digital (OFD) syndrome, Type IX, not yet cataloged in Online Mendelian Inheritance of Man. Cases were identified through an ongoing prenatal exome sequencing study. Anomalous fetuses with normal karyotype and microarray were enrolled and exome sequencing was completed on fetus-mother-father trios. Confirmatory testing was completed in a clinical laboratory. Novel candidate genes with rare variants suspected to affect protein function were entered into Gene MatcherTM, an online database connecting researchers/clinicians to patients with similar phenotypes. A systematic literature review was completed using PubMed. A consanguineous couple with two fetuses with multiple congenital anomalies and pathogenic variants in TBC1D32 was identified. Gene MatcherTM identified 14 additional cases, two of which are included. Seven cases have been published in the literature. Table 1 summarizes the four new cases harboring recessive TBC1D32 variants. We present four cases associated with variants in TBC1D32 in addition to the seven cases published in the literature, supporting TBC1D32 as a causative gene for OFD, type IX. Proteomic studies have identified TBC1D32 as a primary ciliary protein and animal studies demonstrate its involvement in the development and function of cilia. In human gene expression analyses, TCBC1D32 is identified in the developing hypothalamus and pituitary gland. We present the first prenatal case with absence of the pituitary gland, a finding in four of the published cases with postnatal presentations. This case highlights how extreme prenatal phenotypes can help identify genes critical to human development and the importance of fetal autopsy and deep phenotyping in the context of prenatal exome sequencing.

Učestalost anomalija skeleta u fetalnim i neonatalnim obdukcijama

Introduction: Skeletal anomalies are a heterogeneous group of disorders including changes in bone shape, size, and density that cause abnormalities of the extremities, trunk, and head. They rank second in Europe in the frequency of all congenital anomalies. The most common skeletal anomalies include head, face and limb anomalies. Aim: The aim of this study was to determine the frequency of skeletal anomalies and their association with anomalies of internal organs, as well as to show the age of the mother and the gestational week of the fetus with established skeletal anomalies. Material and methods: All fetal and neonatal autopsies in the period from January 1, 2018 to December 31, 2020 at the Institute of Pathology "Djordje Joannovic" of the Faculty of Medicine University of Belgrade were analyzed. In the mentioned period, 580 fetal and neonatal autopsies were performed. Clinical data were obtained from the Gynecology and Obstetrics Clinic "Narodni Front" on the basis of completed requests for clinical autopsy. Descriptive statistics methods were used (data are presented as absolute numbers and percentage frequencies). Results: The most common skeletal anomalies are divided into seven groups: spina bifida (20; 33.34%), limb anomalies (16; 26.67%), head and face bone anomalies (15; 25%), joint anomalies (2; 3.33%), achondroplasia (3; 5%), osteogenesis imperfecta (2; 3.33%) and other anomalies (2; 3.33%). The most common associated anomalies were central nervous system (CNS) abnormalities, followed by heart and kidney abnormalities. The youngest mother was 15 years old, and the oldest was 47 years old. The mean age of the mothers was 30 years. Conclusion: In our study, the most common anomaly was spina bifida, while limb anomalies and craniofacial anomalies are next in frequency. Skeletal anomalies were often associated with anomalies of the heart, kidneys, and CNS. They were mostly diagnosed between the 22nd and 27th gestational week. Our results showed that skeletal anomalies are more common in fetuses or neonates of mothers older than 30 years.

Acrania-exencephaly-anencephaly sequence

Acrania–exencephaly–anencephaly sequence is rare forms of neural tube defects. The progression is from a relatively normal-appearing exposed brain due to an absent cranium called as acrania, to an amorphous brain mass term as exencephaly. We present a case of 20 years female, nonconsaguinous marriage, G1P0A0 having amenorrhea since 3 months. On ultrasonography, a single fetus of gestational age of about 15 weeks gestation showed congenital malformation- acrania with exencephaly. Final impression on fetal autopsy given was acrania–exencephaly with deformed brain, ill-formed cervical C1, 2 spine, bilateral pulmonary immaturity- Grade II with pulmonary congestion and hemorrhage. We are presenting this rare fetal anomaly of acrania–exencephaly–anenecephaly sequence for its clinical, radio imaging, and fetal autopsy findings.

Spectrum of rare splenic lesions

Introduction: The human spleen is the largest component of the reticuloendothelial system, having unique anatomic and functional importance. Spleen has been considered as mysterious organ with World population incidence of focal splenic lesions ranging from 0.103 to 0.20%. Aims and Objective: The aim of the present study was to study the pathological spectrum of rare lesions of spleen. Materials and Methods: The present study was conducted in the department of Pathology in a tertiary care centre, over a period of three years from Aug 2014 to July 2017. Results: Total 10 rare cases of splenic lesions were studied. Out of which eight were splenectomies and two were from fetal autopsies. Primary lesions were 9 and secondary lesion was 1. We found one case each of hemangiomatosis of spleen, small B cell lymphoma of spleen, Sickling of spleen, hydatid cyst of spleen, traumatic spleen avulsion, metastasis to spleen from lung and two case were of asplenia with right isomerism and situsambigus and two cases were of extra lymphatic filariasis of spleen. Conclusion: Morphological changes in splenic lesions are less discussed due to fewer number of splenectomy cases. We hereby analyzed rare splenic lesions which has contributed to the knowledge of splenic pathology. Keywords: Pathological spectrum, Splenic lesions, Splenectomy.

Study of cardiovascular anomalies in perinatal autopsies

Aim: The main objective of this study is to evaluate the spectrum of cardiac findings in perinatal autopsy population. Materials and Methods: Study done over a period of 2 years (June 2016-June 2018). Total 200 perinatal autopsies were performed. The present autopsy study was conducted in the department of Pathology in a tertiary care centre, over a period of two years. All perinatal autopsies diagnosed as congenital heart disease carried out during the study period were included in the study. Detail clinical history regarding age of the mother, pregnancy complications, presenting complaints was taken. Thorough morphological examination of heart was carried out. The diagnosis of congenital heart disease was confirmed and the case was included in the study. Consent was taken from ethical committee of the institute prior to commencement of study. Results: Out of 200 perinatal autopsies 10 cases showed cardiac anomalies (Table 3), in which 6 cases were associated with other anomalies and remaining were isolated cases. All the cases were of intrauterine death (induced or spontaneous). Gestational age ranged between 12-40 weeks (Table 1). Weight of the foetuses ranged between 500g-2000g (Table 2). 10 different anomalies were noted in this study. Conclusion: Fetal and pediatric cardiac autopsies have a crucial role in the counseling of parents with regard to both the cause of death of their fetus or child and the implications of such findings for future pregnancies, as well as for quality assurance of antenatal screening programs and antemortem diagnostic procedures. Cardiac abnormalities are found in up to 35% of fetal autopsies, and only about 50% of those abnormalities can be detected antenatally. Keywords: Perinatal, Autopsy, Hetrotaxy syndrome.

Compound Heterozygous Frameshift Mutations in MESD Cause a Lethal Syndrome Suggestive of Osteogenesis Imperfecta Type XX.

Multiple genes are known to be associated with osteogenesis imperfecta (OI), a phenotypically and genetically heterogenous bone disorder, marked predominantly by low bone mineral density and increased risk of fractures. Recently, mutations affecting MESD, which encodes for a chaperone required for trafficking of the low-density lipoprotein receptors LRP5 and LRP6 in the endoplasmic reticulum, were described to cause autosomal-recessive OI XX in homozygous children. In the present study, whole-exome sequencing of three stillbirths in one family was performed to evaluate the presence of a hereditary disorder. To further characterize the skeletal phenotype, fetal autopsy, bone histology, and quantitative backscattered electron imaging (qBEI) were performed, and the results were compared with those from an age-matched control with regular skeletal phenotype. In each of the affected individuals, compound heterozygous mutations in MESD exon 2 and exon 3 were detected. Based on the skeletal phenotype, which was characterized by multiple intrauterine fractures and severe skeletal deformity, OI XX was diagnosed in these individuals. Histological evaluation of MESD specimens revealed an impaired osseous development with an altered osteocyte morphology and reduced canalicular connectivity. Moreover, analysis of bone mineral density distribution by qBEI indicated an impaired and more heterogeneous matrix mineralization in individuals with MESD mutations than in controls. In contrast to the previously reported phenotypes of individuals with OI XX, the more severe phenotype in the present study is likely explained by a mutation in exon 2, located within the chaperone domain of MESD, that leads to a complete loss of function, which indicates the relevance of MESD in early skeletal development. © 2021 The Authors. Journal of Bone and Mineral Research published by Wiley Periodicals LLC on behalf of American Society for Bone and Mineral Research (ASBMR)..

Pathologist's role in identifying cardiac defects—a fetal autopsy series

AimsMajor cardiac abnormalities can lead to miscarriages and is also an important indication of medical termination of pregnancy. The present study aims: (1) To determine the spectrum of cardiac anomalies in fetal autopsies, (2) To correlate the autopsy findings with prenatal imaging studies. MethodsFetal autopsies with cardiac anomalies were retrospectively analyzed over a period of five years. Autopsy diagnoses were correlated with prenatal ultrasound and echocardiogram findings. ResultsOf the 177 fetal autopsies, 40 (22.5%) cases with cardiac defects were identified. Among these cases, 11 (27.5%) showed only cardiac defects and associated extracardiac malformations were seen in 29 cases (72.5%). Septal defects (45%) were the most frequent cardiac defect followed by left ventricular outflow tract obstruction. Agreement with prenatal imaging and autopsy findings was seen in 65% of cases. There was 100% concordance between autopsy and echocardiogram wherever available. ConclusionCardiac malformation forms a significant subset of fetal congenital anomalies. Meticulous examination and following sequential segmental analysis during autopsy are essential in identifying complex cardiac and additional extra cardiac defects in the fetuses. Fetal autopsy plays a vital role in confirming and/or refuting the imaging findings and could be the steppingstone in understanding the pathogenesis of cardiac abnormalities.

Tricuspid Valve Dysplasia at Fetal Autopsy

Introduction: Tricuspid valve abnormalities detected in fetal life include Ebstein anomaly and tricuspid valve dysplasia. The differentiation between these 2 entities can sometimes be challenging in the 2nd trimester fetus. We report a case of tricuspid valve dysplasia diagnosed on fetal autopsy. Case Report: A primigravida was diagnosed at 22 weeks’ gestation to have Ebstein anomaly with severe tricuspid regurgitation. There was intra-uterine fetal demise. On fetal autopsy, the tricuspid valve leaflets were not apically displaced and the leaflets were nodular with rolled up edges. This supported a diagnosis of tricuspid valve dysplasia. Conclusion: The difficulties in differentiating Ebstein anomaly from tricuspid valve dysplasia due to inherent limitations in fetal imaging can be resolved by fetal autopsy. Valvular dysplasia will not have apical displacement of the valve leaflets.

Fetal double aortic arch: prenatal sonographic and postnatal computed tomography angiography features, associated abnormalities and clinical outcomes

BackgroundFetal double aortic arch (DAA) malformation is a rare congenital heart disease with few reported cases in the literature. We aimed to investigate the characteristics of prenatal ultrasound and postnatal computed tomography angiography (CTA) of DAA and to describe the associated anomalies and clinical outcomes to improve prenatal diagnosis and assist in perinatal management.MethodsThe obstetric ultrasound imaging databases of seven tertiary referral centers were reviewed retrospectively to identify fetuses with a prenatal diagnosis of DAA between January 2013 and December 2018. Ultrasonographic findings, associated anomalies, genetic abnormalities, postnatal CTA images, and long-term postnatal outcomes were evaluated.ResultsA total of 36 cases out of 40 prenatally diagnosed DAA fetuses were confirmed by postnatal diagnosis (fetal autopsy, CTA, and surgery). In this cohort of 36 confirmed cases, 24 (67%) were isolated anomalies, while 12 (33%) were associated with intracardiac or extracardiac anomalies, and 2 (6%) had a 22q11.2 chromosome deletion. Among nine cases of pregnancy termination with a fetal autopsy, 7 had other abnormalities. Among the remaining 27 live births, 16 (59%) were asymptomatic and 11 (41%) received surgical treatment due to tracheal or esophageal compression symptoms, all with satisfactory outcomes. Prenatal echocardiography showed that DAA was mainly characterized by a bifurcation of the ascending aorta into the right and left aortic arch and the formation of a complete O-shaped vascular ring around the trachea on the three-vessel tracheal view. A variant in the aortic arch branching pattern was found for the first time. The airway obstruction, branching pattern, and atretic arch of DAA were clearly shown by postnatal CTA.ConclusionsFetal DAA has unique features on prenatal echocardiography and postnatal CTA, and systematic prenatal examination and timely postnatal CTA evaluation are required. A certain proportion of intracardiac and extracardiac abnormalities are associated with DAA, but the probability of chromosome abnormalities is low, especially for isolated DAA.The clinical outcomes of isolated DAA are favorable, even if surgery is performed due to symptoms. Determining whether other malformations or chromosomal anomalies exist is crucial for prognosis evaluation and prenatal counseling.

VP25.24: Fetal ultrasound, MR imaging and MR autopsy in Cri du chat syndrome: two case reports and review of the literature

VP25.24: Fetal ultrasound, MR imaging and MR autopsy in Cri du chat syndrome: two case reports and review of the literature

VP31.03: Recurrent triploidy: a rare case report with a recognisable phenotypic pattern

Triploidy associated with fetal development and survival beyond the first trimester of pregnancy is rare and a wide range of phenotypic presentations is described. There are still no susceptibility factors identified; current knowledge supports the theory that there is no increased risk for recurrence of triploidy after a first triploid pregnancy. We report a case of two consecutive triploid pregnancies achieving the 2nd trimester of pregnancy in a Caucasian woman. She had three singleton spontaneous pregnancies: the first one was a non-complicated pregnancy at 29 years old, resulting in a healthy newborn delivered at term, the second was a triploid pregnancy at 32 years old and the third a triploid pregnancy at 34 years old. In both triploid pregnancies similar findings were identified, such as: 1st trimester screening revealing low levels of PAPP-A and free β-HCG; 1st trimester ultrasound with no major anatomic defects and a normal NT measurement; 2nd trimester ultrasound revealing a restricted fetus with an increased cephalic circumference/abdominal circumference ratio, oligohydramnios and the presence of cerebellar vermis hypoplasia. Both pregnancies were electively terminated during 2nd trimester, after an amniocentesis showing a triploid karyotype. In both cases, fetal autopsy revealed a small fetus with macrocephaly, cerebellar vermis hypoplasia, low implantation of the ears, hypertelorism, proptosis, small nose, micrognathia, syndactyly between the 2nd and 3rd fingers and club foot; placenta had low weight for gestational age and umbilical cord had a single umbilical artery. Reported findings are highly suggestive of digynic recurrent triploidy. Considering the significant phenotypic variation in triploidy, the finding of a specific phenotypic pattern in both recurrent triploid pregnancies raises the question if there is a genetic basis for this condition: further studies are needed to evaluate this hypothesis, which could revolutionise prenatal counselling.

Consensus Definition of Fetal Growth Restriction in Intrauterine Fetal Death: A Delphi Procedure.

Fetal growth restriction is a risk factor for intrauterine fetal death. Currently, definitions of fetal growth restriction in stillborns are heterogeneous. To develop a consensus definition for fetal growth restriction retrospectively diagnosed at fetal autopsy in intrauterine fetal death. A modified online Delphi survey in an international panel of experts in perinatal pathology, with feedback at group level and exclusion of nonresponders. The survey scoped all possible variables with an open question. Variables suggested by 2 or more experts were scored on a 5-point Likert scale. In subsequent rounds, inclusion of variables and thresholds were determined with a 70% level of agreement. In the final rounds, participants selected the consensus algorithm. Fifty-two experts participated in the first round; 88% (46 of 52) completed all rounds. The consensus definition included antenatal clinical diagnosis of fetal growth restriction OR a birth weight lower than third percentile OR at least 5 of 10 contributory variables (risk factors in the clinical antenatal history: birth weight lower than 10th percentile, body weight at time of autopsy lower than 10th percentile, brain weight lower than 10th percentile, foot length lower than 10th percentile, liver weight lower than 10th percentile, placental weight lower than 10th percentile, brain weight to liver weight ratio higher than 4, placental weight to birth weight ratio higher than 90th percentile, histologic or gross features of placental insufficiency/malperfusion). There was no consensus on some aspects, including how to correct for interval between fetal death and delivery. A consensus-based definition of fetal growth restriction in fetal death was determined with utility to improve management and outcomes of subsequent pregnancies.

Long-term postnatal outcome of fetuses with prenatally suspected septo-optic dysplasia.

ABSTRACTObjectivesSepto‐optic dysplasia (SOD) is a clinical syndrome characterized by varying combinations of optic nerve hypoplasia, pituitary gland hypoplasia and abnormal cavum septi pellucidi. It is suspected on prenatal imaging when there is non‐visualization or hypoplasia of the septal leaflets. Long‐term postnatal outcomes of fetuses with prenatally suspected SOD have been documented poorly. The aims of this study were to describe the natural history of deficient septal leaflets, to quantify the incidence of postnatally confirmed SOD and to document the visual, endocrine and long‐term neurodevelopmental outcomes of these infants.MethodsThis was an observational retrospective study of all fetuses with prenatal imaging showing isolated septal agenesis, assessed at a single tertiary center over an 11‐year period. Pregnancy, delivery and neonatal outcomes and pre‐ and postnatal imaging findings were reviewed. Neonatal evaluations or fetal autopsy reports were assessed for confirmation of SOD. Ophthalmologic, endocrine, genetic and long‐term developmental evaluations were assessed. Imaging findings and outcome were compared between infants with and those without postnatally confirmed SOD.ResultsOf 214 fetuses presenting with septal absence on prenatal ultrasound and magnetic resonance imaging (MRI), 18 (8.4%) were classified as having suspected isolated septal agenesis suspicious for SOD. Uniform prenatal MRI findings in cases with suspected SOD included remnants of the leaflets of the cavum septi pellucidi, fused forniceal columns, normal olfactory bulbs and tracts and a normal optic chiasm. Twelve fetuses were liveborn and five (27.8%) had postnatally confirmed SOD. Only two of these five fetuses had additional prenatal imaging features (pituitary cyst, microphthalmia and optic nerve hypoplasia) supporting a diagnosis of SOD. The other three confirmed SOD cases had no predictive prenatal or postnatal imaging findings that reliably differentiated them from cases without confirmed SOD. Visual and endocrine impairments were present in two (40%) and four (80%) cases with confirmed SOD, respectively. In those with visual and/or endocrine impairment, developmental delay (median age at follow‐up, 2.5 (interquartile range, 2.5–7.0) years) was common (80%) and mostly severe. Neonates with isolated septal agenesis and a lack of visual or endocrine abnormalities to confirm SOD had normal development.ConclusionsOnly a quarter of fetuses with isolated septal agenesis suggestive of SOD will have postnatal confirmation of the diagnosis. Clinical manifestations of SOD are variable, but neurodevelopmental delay may be more prevalent than thought formerly. © 2020 Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology.

Fetal Autopsy-Categories and Causes of Death at a Tertiary Care Center.

A fetus is defined from 8 weeks after conception until term while in the uterus. Fetal death is defined as death of the fetus before the complete expulsion or extraction from the mother, irrespective of the duration of pregnancy that is not an induced termination of pregnancy. The causes of fetal death determined after fetal autopsy can be categorized according to the classification proposed by Cunningham and Hollier as fetal, placental, and maternal. All fetuses dying in utero, that is, prior to birth, regardless of the gestational age, to the mothers admitted in the Department of Obstetrics and Gynecology along with the respective placentas were received in the Department of Pathology, MGM Medical College, Aurangabad, after an informed and written consent from October 26, 2017, to October 30, 2019, and were included in this study. Clinical details along with obstetric history and antenatal ultrasonographic findings were also recorded. Anthropometric examination of the fetus was performed and evisceration was then done using the Rokitansky technique. Representative sections from each of the organs were taken and kept in tissue cassettes and processed for routine hematoxylin and eosin staining. This study was done on 33 cases of fetal death. Most fetal deaths occurred in the gestational age between 15 and 19 weeks (14 cases [42.42%]) and the least amount during 35 to 39 weeks (2 cases [6.06%]). The cause of death could not be ascertained in 6 cases (18.18%), whereas the maximum cases had fetal factor as the cause of death (15 cases [45.45%]). Maternal causes were seen in only 4 cases (12.12%). Gestational hypertension was seen to be the most common maternal factor associated with fetal death, which comprised 24.24% of cases (8 of 33). Thirteen of the total 33 cases did not have any associated obstetric complication. Of the total 33 fetal deaths, only 7 had associated placental defects on gross examination. Twenty-six placentas did not show any gross abnormality. Of these 7 cases, 5 were seen to have placental infarction. Fetal autopsy is a valuable and cost-effective modality for the confirmation of cause of fetal death. Fetal autopsy can also prove beneficial to the parents in planning for future pregnancies. Fetal autopsy can serve as the ultimate tool in diagnosing cause of fetal death in cases where no other diagnostic clue is available. Therefore, it should be encouraged and couples to be counseled regarding its importance and clinical utility.