Objective: To summarize the clinicopathological factors related to perinatal fetal death and to evaluate importance of fetal autopsy and placental pathology. Methods: The clinicopathological data of 105 perinatal fetal deaths in Beijing Haidian Maternal and Child Health Hospital from November 2012 to December 2020 were retrospectively analyzed. Relevant literature was also reviewed. Results: The maternal age of the deceased fetuses ranged from 22 to 43 years with the average (31.35±4.04 years), and the gestational weeks were 28-40⁺⁶ weeks. Among them, 101 were singleton cases and 4 twin cases. 103 fetuses died in uterus and 2 died during delivery. Relevant factors analysis of the 105 perinatal fetal deaths showed that 86 cases (81.9%, 86/105) were related to umbilical cord/placental abnormality, 10 cases (9.5%, 10/105) uterine infection, 6 cases (5.7%, 6/105) fetal factors, 1 case was fetal maternal blood transfusion syndrome, 1 case twin blood transfusion syndrome, and 1 case died of complete uterine rupture. Among the 86 cases related to umbilical cord/placental abnormality, the diagnosis was most often based on the gross examination of placenta. The most common cause of death was umbilical cord torsion with thin root, followed by placental abruption, tight umbilical cord winding, vascular rupture and umbilical cord true knot. The morphology of placenta revealed mainly functional changes. Among the 10 cases related to intrauterine infections, the placenta generally showed lobular placental edema. The morphological characteristics of ascending infection were mainly acute chorioamnionitis, and the morphological characteristics of blood-borne infection were mainly acute or chronic villitis, as well as villous interstitial inflammation. Identification of viral inclusions suggested viral etiology, while the final diagnosis was relied on laboratory testing. Among the 6 cases related to fetal abnormality, the diagnostic value of placenta was limited and the diagnosis could be made with fetal autopsy. Conclusion: The causes of perinatal fetal death are complex, diverse, and often the synergistic result of multiple factors. Fetal autopsy and placental pathology are the key technical means to identify the cause of death and deserve more attention and utilization.
Adult ; Autopsy ; Child ; Female ; Fetal Death/etiology* ; Fetus/pathology* ; Gestational Age ; Humans ; Placenta/pathology* ; Pregnancy ; Retrospective Studies ; Young Adult

OBJECTIVE: To carry out genetic testing for an abortus suspected with Cornelia de Lange syndrome (CdLS). METHODS: History of gestation and the family was taken. Combined with prenatal ultrasonography and the phenotype of the abortus, a diagnosis was made for the proband. Fetal tissue and peripheral blood samples of its parents were collected for the extraction of genomic DNA. Whole exome sequencing was carried out to detect mutations related to the phenotype. Suspected mutations were verified in the parents through Sanger sequencing. RESULTS: Prenatal ultrasound found that the forearms and hands of the fetus were anomalous, in addition with poorly formed vermis cerebellum, slight micrognathia, and increased echo of bilateral renal parenchyma. Examination of the abortus has noted upper limb and facial malformations. Whole exome sequencing revealed that the fetus carried a heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene. The same mutation was not found in either parent. CONCLUSION The heterozygous c.2118delG (p.Lys706fs) frameshift mutation of the NIPBL gene probably underlies the CdLS in the fetus. Above finding has provided a basis for the genetic counseling for the family.
Cell Cycle Proteins/genetics* ; DNA Mutational Analysis ; De Lange Syndrome/pathology* ; Female ; Fetus ; Humans ; Male ; Mutation ; Phenotype ; Pregnancy ; Whole Exome Sequencing

OBJECTIVE: To identify the genetic causes of a family with lymphedema-distichiasis syndrome (LDS). METHODS: The whole exome sequencing was performed in a aborted fetus as the proband, and a candidate gene was identified. Peripheral blood of 8 family members were collected. Genotypic-phenotypic analysis were carried out through PCR amplification and Sanger sequencing. RESULTS: The proband, and the mother, grandmother, uncle, granduncle of the proband all had distichiasis or varix of lower limb carried a CONCLUSIONS The
Aborted Fetus/physiopathology* ; Adult ; Eyelashes/pathology* ; Female ; Forkhead Transcription Factors/genetics* ; Frameshift Mutation ; Humans ; Lymphedema/pathology* ; Male ; Phenotype ; Pregnancy ; Whole Exome Sequencing

OBJECTIVE: To analyze the clinical features and pathogenesis of a fetus with holoprosencephaly. METHODS: The findings of prenatal ultrasonography was reviewed. Following elective abortion, whole exome sequencing (WES) was carried out to identify potential pathogenic variant. Copy number variants (CNVs) of the abortus and its parents were detected by low-depth high-throughput sequencing. The parents were also analyzed by chromosomal karyotyping. RESULTS: Prenatal ultrasound suggested that the fetus had holoprosencephaly. WES revealed that it had approximately 33 Mb deletion at chromosome 13 involving ZIC2, a haploid dose sensitive gene. The results of low-depth high-throughput sequencing confirmed that the fetus carried a de novo 32.32 Mb deletion at 13q31.1-34. Karyotyping analysis has excluded gross chromosomal aberration in both parents. CONCLUSION The fetus was diagnosed with holoprosencephaly, which may be attributable to the 13q31.1-34 deletion involving the ZIC2 gene.
Adult ; Chromosomes, Human, Pair 13 ; genetics ; Female ; Fetus ; Genetic Testing ; Holoprosencephaly ; diagnostic imaging ; genetics ; pathology ; Humans ; Karyotyping ; Male ; Nuclear Proteins ; genetics ; Pregnancy ; Prenatal Diagnosis ; Sequence Deletion ; Transcription Factors ; genetics ; Ultrasonography, Prenatal ; Whole Exome Sequencing

Fetal adenocarcinoma of the lung (FLAC) is an extremely rare subtype of lung cancer, accounting for only 0.1% to 0.5% of primary pulmonary malignancy. In 2011, international multidisciplinary classification of lung adenocarcinoma developed by the International Association for the Study of Lung Cancer (IALSC), the American Thoracic Society (ATS) and the European Respiratory Society (ERS) classified FLAC as a variant of invasive adenocarcinoma. FLAC has been further divided into low-grade fetal adenocarcinoma (L-FLAC) and high-grade fetal adenocarcinoma (H-FLAC) as these two categories exhibit different clinicopathological features and biological behaviors. Here we report a case of high-grade fetal adenocarcinoma and summarize clinicopathologic features of fetal lung adenocarcinoma.
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Adenocarcinoma of Lung ; diagnostic imaging ; pathology ; surgery ; Fetus ; Humans ; Male ; Middle Aged ; Neoplasm Grading ; Prognosis ; Tomography, X-Ray Computed

OBJECTIVE: To explore the genetic etiology of fetuses with congenital anomalies of the kidney and urinary tract (CAKUT) by whole exome sequencing (WES). METHODS: WES was performed on DNA extracted from cord blood samples of 26 fetuses with unexplained CAKUT with/without other structural anomalies. In the first 19 cases, sequencing was performed on fetal DNA only, and the turnaround time was 11-12 weeks. For the remaining 7 cases, the fetus and its parents were sequenced simultaneously, and the turnaround time was 8-9 weeks. RESULTS: Of the 26 cases, pathogenic variants were identified in 4 (15.4%) cases, which respectively involved UMOD, NEK8, HNF1B, and BBS2 genes, and likely pathogenic variants were identified in 2 (7.7%) cases, which respectively involved HSPD1 and GRIN2B genes. Two of the 4 cases had other anomalies in addition to CAKUT. Thus, the detection rate was only 2/19 (10.5%) for isolated CAKUT and 4/7 (57.1%) for CAKUT with additional anomalies. CONCLUSION The application of WES as a prenatal diagnostic approach for CAKUT fetuses with or without other anomalies allowed early and accurate diagnosis and improved their clinical management.
Exome ; Female ; Fetus ; Humans ; Kidney ; pathology ; Pregnancy ; Urinary Tract ; pathology ; Urogenital Abnormalities ; genetics ; Whole Exome Sequencing

OBJECTIVETo study the effects of embryonic lead exposure on food intake and bowel movement in offspring rats and possible mechanisms.

METHODSSprague-Dawley rats were given 0.1% (low-dose lead exposure group) or 0.2% (high-dose lead exposure group) lead acetate freely during pregnancy to establish an animal model of embryonic lead exposure. A blank control group was also established. The male offspring rats were enrolled in the study, and 10 male offspring rats from each group were selected to observe the changes in food intake, bowel movement, gastric emptying, intestine propulsion, and pathological inflammatory response in the gastric mucosa. Eight offspring rats were selected from each group, and electron microscopy and immunohistochemistry were used to observe the changes in the ultrastructure of jejunal microvilli and cell junction and the expression of cholecystokinin-8 (CCK-8) and motilin (MTL) in the feeding center, in order to reveal the possible mechanisms for abnormal gastrointestinal motility in offspring rats induced by embryonic lead exposure.

RESULTSCompared with the control group, the low- and high-dose lead exposure groups had a significant reduction in daily food intake, a significant increase in water content of feces, a significant reduction in fecal pellet weight, and a significant increase in small intestine propulsion (P<0.05). The high-dose lead exposure group had a significant reduction in gastric emptying ability compared with the control group (P<0.05). Compared with the control group, the lead exposure groups had significantly greater pathological inflammatory changes in the gastric mucosa (P<0.05), significant reductions in the number and length of the jejunal microvilli and the number of epithelial desmosome junctions (P<0.05), a significant increase in the macula densa gap (P<0.05), and significant increases in the expression of MTL and CCK-8 in the feeding center (P<0.05), in a dose-dependent manner.

CONCLUSIONSThe degree of gastrointestinal structural injury and expression levels of MTL and CCK-8 in the feeding center are lead dose-dependent, which may be important mechanisms for changes in food intake, bowel movement, and digestive functions in offspring rats induced by embryonic lead exposure.

Animals ; Defecation ; drug effects ; Eating ; drug effects ; Female ; Fetus ; drug effects ; Gastric Emptying ; drug effects ; Jejunum ; drug effects ; pathology ; Lead ; toxicity ; Rats ; Rats, Sprague-Dawley

A 32-year-old multiparous woman (gravida 2, para 2) with a history of previous cesarean section had acute abdominal pain and collapsed at 21 weeks of gestation. Exploratory laparotomy was performed because of the patient's worsening condition; ultrasound examination results were suggestive of massive hemoperitoneum, and fetus in vertex presentation with bradycardia. Uterine rupture between the left lower segment and borderline of the cervix in the anterior wall with active bleeding was confirmed. An uncomplicated classical cesarean section was performed, but the fetus was stillborn due to preterm birth. Hysterectomy was performed after the cesarean section. The patient was admitted to intensive care units for 3 days and was discharged in 12 days following delivery. Placenta percreta at the anterior lower segment of the uterus was confirmed in the pathology report.
Abdominal Pain ; Adult ; Bradycardia ; Cervix Uteri ; Cesarean Section ; Female ; Fetus ; Hemoperitoneum ; Hemorrhage ; Humans ; Hysterectomy ; Intensive Care Units ; Laparotomy ; Pathology ; Placenta Accreta* ; Placenta* ; Pregnancy ; Pregnancy Trimester, Second* ; Pregnancy* ; Premature Birth ; Ultrasonography ; Uterine Rupture* ; Uterus

A case of a stillbirth with lethal type II osteogenesis imperfecta (OI) was reported. The fetus had skull fractures and craniocerebral injuries during pregnancy. Postmortem multi-sliced computed tomography (MSCT) and 3D-reconstruction were performed, followed by a medico-legal autopsy. The autopsic findings showed the typical features of type II OI, including a soft calvarium, deformed extremities, flexed and abducted hips, and uncommon features, such as white sclera, coxa vara, absence of several bones and organs, a cleft lip, and asymmetric ears. The radiologic images revealed such anomalies and variations as a cleft palate, mandibular dysplasia, spina bifida, costa cervicalis, and fusion of the ribs and vertebrae, which were difficult to detect during conventional autopsy. The paper investigated the classification, causative mutation, cause of death, and the differentiation of OI from child abuse, coming to a conclusion that OI knowledge can be of great importance to forensic pathologists and that the merits of postmortem MSCT should be emphasized in forensic pathologic examinations.
Autopsy ; Child ; Death ; Fatal Outcome ; Female ; Fetus ; Forensic Pathology ; Humans ; Infant, Newborn ; Multidetector Computed Tomography/methods* ; Osteogenesis Imperfecta/physiopathology* ; Pregnancy ; Ribs ; Skull/pathology*

OBJECTIVETo study the etiology, pathogenesis, clinicopathologic characteristics, prognosis and treatment of congenital pulmonary airway malformation (CPAM).

METHODSEighteen cases of CPAM were enrolled into the study. The clinical history, autopsy findings and immunohistochemical results were evaluated, with review of literature. The pathogenetic mechanism, pathologic features and differential diagnosis of CPAM were studied.

RESULTSHistologic examination showed that 2 cases were classified as Stocker type I, 12 cases as type II, and 4 cases as type III. The lesion was unilateral and involved single lobe in 13 cases. The remaining 5 cases had bilateral diseases. Of the 18 cases studied, 12 cases showed single organ involvement and 6 cases had malformations affecting multiple organs. The associated malformations included cardiac anomalies (4 cases), polycystic kidney with gastrointestinal atresia (1 case) and nuchal cystic hygroma with hydrothorax (1 case).

CONCLUSIONSCPAM is a rare pulmonary disorder. The etiology of this non-neoplastic condition is unknown. Imaging analysis is a valuable tool to suggest CPAM, while definite diagnosis requires pathologic examination. The overall prognosis is determined by the presence of associated malformations, fetal hydrops and pulmonary hypoplasia.

Abnormalities, Multiple ; pathology ; Autopsy ; Fetus ; abnormalities ; Humans ; Hydrops Fetalis ; Lung ; abnormalities