Achondrogenesis is a lethal form of congenital chondrodystrophy characterized by extreme micromelia. We describe a case of achondrogenesis type II (Langer-Saldino achondrogenesis) detected by prenatal ultrasonography at 20-week gestation. A dwarfed fetus with large head, short neck and chest, prominent abdomen and short limbs was terminated transvaginally. Radiologic and histopathologic examination revealed features of mild form of achondrogenesis type II. Although the case had no known risk factor and the phenotypic abnormality was mild, modern development in prenatal screening made the early detection possible.
Abortion, Induced ; Achondroplasia/ultrasonography ; Achondroplasia/pathology* ; Bone and Bones/pathology ; Case Report ; Female ; Fetal Diseases/ultrasonography ; Fetal Diseases/pathology* ; Human ; Pregnancy ; Ultrasonography, Prenatal

We report the imaging findings in a case of fetal lymphangioma involving the retroperitoneum and right lower extremity, and diagnosed by ultrasonography and magnetic resonance (MR) imaging at 26 weeks of gestation. Prenatal ultrasonograms and T2-weighted single-shot fast spin-echo MR images clearly revealed an extensive, multilocular cystic mass with internal hemorrhage in the retroperitoneum extending to the lower extremity.
Abortion, Eugenic ; Adult ; Female ; Fetal Diseases/*pathology/*ultrasonography ; Human ; Lower Extremity/pathology/ultrasonography ; Lymphangioma/*pathology/*ultrasonography ; Magnetic Resonance Imaging/*methods ; Pregnancy ; Retroperitoneal Space/pathology/ultrasonography ; Ultrasonography, Prenatal

Isolated pleural effusion, so called primary pleural effusion denotes a pleural effusion without documented etiology such as a cardiac, inflammatory, iatrogenic problem or fetal hydrops. Chromosomal anomaly such as Down syndrome may be associated with isolated pleural effusion. The content of the isolated pleural effusion is mostly chylous, and isolated non-chylous pleural effusion in neonate is rare. We experienced 2 cases of isolated non-chylous pleural effusion. They had neither cardiac problem nor other sign of hydrops fetalis. Imaging diagnosis was done by plain chest radiography and subsequent ultrasonogram. One of them was diagnosed to Down syndrome by karyotyping. They were fared well after diagnostic and therapeutic thoracentesis. We describe 2 cases of non-chylous pleural effusion and review a few English-language case reports of this entity.
Chyloperitoneum/pathology ; Chylothorax/pathology ; Down Syndrome/diagnosis/genetics ; Female ; Fetal Diseases/diagnosis/therapy ; Gestational Age ; Human ; Hydrothorax ; Infant, Newborn ; Karyotyping ; Male ; *Pleural Effusion ; Pregnancy ; Ultrasonography ; Ultrasonography, Prenatal

OBJECTIVETo investigate the prenatal ultrasonic manifestations of fetal gray matter heterotopias (FGMH) and evaluate the optimal method its prenatal diagnosis.

METHODSThe prenatal and postnatal ultrasound images and MRI images were analyzed for a fetus with a definitive diagnosis of FGMH. The detection rates of FGMH by prenatal ultrasound and MRI reported in literature were compared.

RESULTSWe identified 11 reports of FGMH from 1998 to 2015, involving 43 cases with prenatal diagnoses. Of the total of 44 cases (including our case), 32 that had been confirmed postpartum had prenatal ultrasound and MRI data, which showed a significantly lower detection rates of FGMH by prenatal ultrasound than by MRI (43.8% vs 93.8%, P<0.001).

CONCLUSIONPrenatal ultrasound can only detect subependymal heterotopia with characteristic manifestations, and the detection of other types of FGMH relies on MRI, which is currently the best option for prenatal diagnosis of FGMH.

Classical Lissencephalies and Subcortical Band Heterotopias ; diagnosis ; Female ; Fetal Diseases ; diagnosis ; Fetus ; Gray Matter ; pathology ; Humans ; Magnetic Resonance Imaging ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal

OBJECTIVETo investigate the etiology, pathogenesis, clinicopathologic characteristics, clinical prognosis and treatment of Dandy-Walker syndrome.

METHODSNine cases of Dandy-Walker syndrome were included in the study. The autopsy findings and clinical history were evaluated along with review of the literature. The causes, pathogenetic mechanism, pathologic features and prognosis of Dandy-Walker syndrome were analyzed.

RESULTSAmong 9 Dandy-Walker syndrome cases, six patients presented with variants of Dandy-Walker complex and 3 cases had classic Dandy-Walker malformation. In addition, 4 patients presented with combined lateral ventricle expansion and multiple malformations were seen in 7 cases. Combined umbilical cord abnormality was noted in 4 patients with variant of Dandy-Walker complex and combined placental abnormality was seen in one classic Dandy-Walker syndrome.

CONCLUSIONSDandy-Walker syndrome is a rare disease. In addition to complex pathogenesis with possible genetic and environmental antigenic etiologies, placental and umbilical cord abnormality may be also related to its development.

Abortion, Induced ; Autopsy ; Dandy-Walker Syndrome ; diagnostic imaging ; pathology ; Female ; Fetal Diseases ; diagnostic imaging ; pathology ; Fetus ; pathology ; Gestational Age ; Humans ; Lateral Ventricles ; pathology ; Male ; Placental Insufficiency ; pathology ; Pregnancy ; Retrospective Studies ; Ultrasonography, Prenatal