Acrocephalosyndactylia ; pathology ; Fetus ; pathology ; Humans

Adolescent ; Fetus ; parasitology ; pathology ; Humans ; Male ; Teratoma ; parasitology ; pathology

OBJECTIVE: To evaluate the echocardiographic diagnosis for ventricular non-compaction cardiomyopathy (NCCM) in foetus and to analyze the pathologic features of NCCM.
 METHODS: A total of 9 patients with fetal NCCM were examined by prenatal echocardiography from 2004 to 2013, which was compared with postnatal echocardiography or autopsy to analyze the fetal characteristic of myocardial ultrastructure.
 RESULTS: The results of echocardiography displayed an excessive muscle trabecular meshwork and muscle trabecular crypt, and the ventricular myocardium and non-compaction/compaction ratio was ≥2.0. Among the 9 fetuses of NCCM, 6 fetuses were involved in left ventricle, 2 in both left and right ventricles and 1 in right ventricle. Two fetuses were confirmed by postnatal echocardiography, the remaining 7 patients were chosen to terminate their pregnancies, which were confirmed by autopsy later. Muscle biopsies revealed the abnormal myocardial mitochondria, sarcomeres and myocardial fibrosis.
 CONCLUSION It is feasible to accurately diagnose NCCM by prenatal echocardiography. Fetal NCCM most often involves the left ventricle, but it can involve the right ventricle or both, too. The myocardial ultrastructure of fetal NCCM possesses certain unique characteristics, such as the low maturation of the mitochondria, sarcomeres and myocardial fibers.
Cardiomyopathies ; diagnosis ; Echocardiography ; Fetus ; Heart Ventricles ; pathology ; Humans ; Myocardium ; pathology

Campylobacter (C.) fetus (epsilonproteobacteria) is an important veterinary pathogen. This species is currently divided into C. fetus subspecies (subsp.) fetus (Cff) and C. fetus subsp. venerealis (Cfv). Cfv is the causative agent of bovine genital Campylobacteriosis, an infectious disease that leads to severe reproductive problems in cattle worldwide. Cff is a more general pathogen that causes reproductive problems mainly in sheep although cattle can also be affected. Here we describe a multiplex PCR method to detect C. fetus and differentiate between subspecies in a single step. The assay was standardized using cultured strains and successfully used to analyze the abomasal liquid of aborted bovine fetuses without any pre-enrichment step. Results of our assay were completely consistent with those of traditional bacteriological diagnostic methods. Furthermore, the multiplex PCR technique we developed may be easily adopted by any molecular diagnostic laboratory as a complementary tool for detecting C. fetus subspecies and obtaining epidemiological information about abortion events in cattle.
Animals ; Campylobacter ; Campylobacter fetus ; Cattle ; Communicable Diseases ; Fetus ; Multiplex Polymerase Chain Reaction ; Pathology, Molecular ; Sheep

PURPOSE: This study was performed to investigate the morphological change of the iris and ciliary body of human eyes during fetal period. METHODS: Under the Registry of Congenital malformation, fetuses were supplied by the Department of Pathology of Seoul National University. We selected 81 eyes enrolled with the gestational age between 8 and 40 weeks, and examined under light microscope. RESULTS: The development of iris and ciliary body began from 12 weeks. During the gestational age 15-18 weeks, marginal sinus and the fold of iris and ciliary body were formed. At the gestational age 18 weeks, the iris sphincter located in front of marginal sinus was certainly distinguished, and the vessels of ciliary body formed. During the gestational age 19-22 weeks the minor folds of ciliary body were formed between the original it. During the gestational age 23-27 weeks marginal sinus was being diminished and dilator muscle was seen. During the gestational age 28-30 weeks the dilator muscle of iris was certainly developed and the longitudinal and circular muscle of ciliary body were distinguished. During the gestational age 34-40 weeks the adultlike appearance of the iris and ciliary body became apparent. CONCLUSIONS: The mesenchymal cells located in the anterior rim of optic cup began to develop after the gestational age 12 weeks. If the develpment of the iris and ciliary body was arrested around the gestational age 15-22 weeks, the congenital malformation of the iris and ciliary body could appear.
Ciliary Body* ; Fetus ; Gestational Age* ; Humans ; Iris* ; Pathology ; Seoul

Autopsy ; Fetus ; Heart Neoplasms ; pathology ; Humans ; Rhabdomyoma ; pathology ; Tuberous Sclerosis ; pathology

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 explore the pathologic features and prognosis of early and late onset severe preeclampsia.

METHODSAn observational study was conducted in 178 cases of severe preeclampsia collected during January 2010 to December 2014 from Haidian Maternal and Child Health Hospital.The cases were divided into two groups according to the onset of gestational age of the severe preeclampsia, with 54 cases of namely early onset (onset ≤ 34 weeks) and 124 cases of late onset (onset >34 weeks). Clinical characteristics of the patients, perinatal outcome and the pathologic characteristics of the placentas in each group were evaluated.

RESULTSDecidual vascular disease, placental infarction, abruptio placentae and placental villi dysplasia were seen in both groups. The incidence of placental villi dysplasia was the highest, followed by placental infarction. Incidence of severe decidual vascular disease of early and late onset severe decidual vascular disease were 16.7% (9/54) and 5.6% (7/124), respectively.Incidence of placental infarction of early and late onset severe preeclampsia were 48.1% (26/54) and 61.3% (76/124). Incidence of placental villi dysplasia of early and late onset severe preeclampsia were 79.6% (43/54) and 50.8% (63/124). Incidence of Severe decidual vascular disease, placental infarction and placental villi dysplasia were significantly different between early and late onset severe preeclampsia cases (P<0.05), while there was no difference in decidual vascular disease and placenta thrombi (P>0.05). Fetal survival rate of every group was 81.5% (44/54) and 93.5% (116/124). Incidence of fetal growth retardation was 55.6% (30/54) and 38.7% (48/124). The fetal survival rate and incidence of fetal growth retardation were different between two groups (P<0.05).

CONCLUSIONSThe incidence of decidual vascular disease and placental villi dysplasia in early onset severe preeclampsia is higher than those in late onset severe preeclampsia. Neonatal outcome and prognosis in early onset severe preeclampsia are worse than those in late onset severe preeclampsia.

Chorionic Villi ; pathology ; Female ; Fetus ; Gestational Age ; Humans ; Placenta ; pathology ; Placenta Diseases ; epidemiology ; pathology ; Pre-Eclampsia ; epidemiology ; pathology ; Pregnancy

Abortion, Induced ; Adult ; Female ; Fetus ; embryology ; Humans ; Hydatidiform Mole ; pathology ; Pregnancy ; Pregnancy Complications, Neoplastic ; pathology ; Pregnancy, Twin ; Uterine Neoplasms ; pathology

Abnormalities, Multiple ; pathology ; Cerebral Cortex ; pathology ; Fetus ; Holoprosencephaly ; diagnostic imaging ; pathology ; Humans ; Labor, Induced ; Male ; Prenatal Diagnosis ; Ultrasonography