A variety of neoplasms can develop in each tetal organ. Most fetal neoplasms can be detected by careful prenatal ultrasonographic examination. Some neoplosms show specific ultrasonographic findings suggesting the differential diagnosis, but others do not. Knowledge of the presence of a neoplasm in the fetus may alter the prenatal management of a pregnancy and the mode of delivery, and facilitates immediate postnatal treatment. During the last five years, we experienced 32 cases of fetal neoplasms in a variety of organs. We describe their typical ultrasonographic findings with correlating postnatal CT, MRI, and pathologic findings.
Brain Neoplasms/ultrasonography ; Female ; Fetal Diseases/*ultrasonography ; Human ; Lymphangioma/ultrasonography ; Lymphangioma, Cystic/ultrasonography ; Neoplasms/*ultrasonography ; Pregnancy ; Teratoma/ultrasonography ; *Ultrasonography, Prenatal

We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.
Adult ; Down Syndrome/*ultrasonography ; Female ; Fetal Blood/cytology ; Fetal Death ; Fetal Diseases/*diagnosis ; Hepatomegaly/ultrasonography ; Humans ; Leukocytosis/diagnosis ; *Myelopoiesis ; Pregnancy ; *Prenatal Diagnosis ; Splenomegaly/ultrasonography ; Thrombocytopenia/diagnosis

Focal musculoskeletal anomalies vary, and can manifest as part of a syndrome or be accompanied by numerous other conditions such as genetic disorders, karyotype abnormalities, central nervous system anomalies and other skeletal anomalies. Isolated focal musculoskeletal anomaly does, however, also occur; its early prenatal diagnosis is important in deciding prenatal care, and also helps in counseling parents about the postnatal effects of numerous possible associated anomalies. We have encountered 50 cases involving focal musculoskeletal anomalies, including focal limb dysplasia [radial ray abnormality (n=3), mesomelic dysplasia (n=1) ]; anomalies of the hand [polydactyly (n=8), syndactyly (n=3), ectrodactyly (n=1), clinodactyly (n=6), clenched hand (n=5) ]; anomalies of the foot [clubfoot (n=10), rockerbottom foot (n=5), sandal gap deformity (n=1), curly toe (n=2) ]; amniotic band syndrome (n=3) ; and anomalies of the focal spine [block vertebra (n=1), hemivertebra (n=1) ]. Among these 50 cases, five [polydactyly (n=1), syndactyly (n=2) and curly toe (n=2) ] were confirmed by postnatal physical evaluation, two (focal spine anomalies) were diagnosed after postnatal radiologic examination, and the remaining 43 were proven at autopsy. For each condition, we describe the prenatal sonographic findings, and include a brief review.
Amniotic Band Syndrome/radiography/*ultrasonography ; Fetal Diseases/radiography/*ultrasonography ; Human ; Infant, Newborn ; Limb Deformities, Congenital/radiography/*ultrasonography ; Musculoskeletal Abnormalities/radiography/*ultrasonography ; Spinal Diseases/radiography/*ultrasonography ; *Ultrasonography, Prenatal

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

BACKGROUNDRight dominant heart (RDH) in fetuses can occur with a number of cardiac as well as noncardiac anomalies. Analysis of the enlargement of the right cardiac chamber in the fetus remains a major challenge for sonographers and echocardiographers. The aim of this study was to report the experience with prenatal diagnosis of RDH in the fetuses over a 7-year period.

METHODSFetuses with prenatal diagnosis of RDH from July 2009 to July 2016 were evaluated in two different categories: according to the gestational age, Group I (n = 154, second trimester) and Group II (n = 298, third trimester); and according to the fetal echocardiography diagnosis, Group A (n = 452, abnormal cardiac structure) and Group B (n = 90, normal cardiac structure). Differences in categorical variables were assessed by Chi-square exact test and continuous variables were evaluated by independent Student's t-test or Mann-Whitney U-test depending on parametric or nonparametric nature of the data.

RESULTSOver a 7-year period, 452 fetuses were referred for the assessment of suspected RDH. Left-sided obstructive lesions were observed most frequently in the fetuses with RDH. When comparing Group I with Group II and Group A with Group B, the latter groups exhibited significant differences in the right/left ventricle (RV/LV) ratio (1.435 vs. 1.236, P = 0.002; 1.309 vs. 1.168, P = 0.047), RV width Z-score (1.626 vs. 1.104, P < 0.001; 1.553 vs. 0.814, P = 0.014), and above +2 cutoff percentages (14.3% vs. 22.5%; P = 0.038; 21.5% vs. 12.2%, P = 0.046). Multivariable logistic regression revealed no variables associated with perinatal survival.

CONCLUSIONSThe study demonstrates that RDH warrants careful attention to the possible presence of a structural cardiac anomaly, especially left-sided obstructive lesions. A diagnosis of RDH is best supported by a combination of the RV Z-score and RV/LV ratio. Most of the fetuses with RDH and structurally normal hearts had favorable outcomes.

Echocardiography ; Female ; Fetal Diseases ; diagnosis ; Fetal Heart ; abnormalities ; Heart Ventricles ; abnormalities ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Ultrasonography, Prenatal

OBJECTIVE: To investigate the application value of whole exome sequencing technology in fetuses with congenital structural abnormalities. METHODS: The chromosomal abnormalities of 1147 families were analyzed. According to the follow-up results, the data of fetuses with new phenotypes in late pregnancy or after birth were reanalyzed. Subgroups were divided according to the organs involved and whether single malformation or not. The gene regulatory network map was drawn by using string database and Cytoscape software. Fisher exact probability method was used to compare the difference of the diagnostic rate of pathogenic genes among the groups. RESULTS: A total of 160 fetal cases received positive molecular diagnosed, involving 178 variant sites of 125 pathogenic genes, including 8 cases (4.9%, 8/163) by data reanalysis, and the overall positive diagnosis rate was 13.9%. Diagnostic rate was highest in the group of skeletal malformation (31.5%, 39/124) and lowest in that with thoracic malformation (0, 0/32). The gene clusters of fetal edema and intrauterine growth restriction were independent, and were not associated with the major structural malformations. The probability of each parent carrying the same recessive gene variant was 0.03 (39/1146) and 0.08 (4/53) with positive family history. CONCLUSION For fetuses with congenital structural abnormalities that are negative for conventional genetic tests, 13.9% of phenotypic associated pathogenic/likely pathogenic genetic variants can be detected by whole exome sequencing technology. Its application value for prenatal diagnosis varies in fetus with different organs involved. Reanalysis of sequencing data for cases with new phenotypes in late pregnancy or after birth can further improve the molecular diagnosis rate. Further investigations are needed to explore the related genetic mechanisms.
Female ; Fetal Diseases ; Fetus/diagnostic imaging* ; Humans ; Pregnancy ; Prenatal Diagnosis ; Technology ; Ultrasonography, Prenatal ; Whole Exome Sequencing

OBJECTIVE: To investigate the clinical significance of 3-vessel subsequence view in prenatal screening and diagnosis of fetal congenital heart disease. METHODS: The 3-vessel subsequence view of 231 fetuses with congenital heart disease was obtained with Sequoia 512, Voluson 730 and E8 color Doppler ultrasonographic diagnostic system. RESULTS: Of the 231 consecutive fetuses with congenital heart defects (CHD), 169 (73%) had at least 1 abnormality on the 3-vessel subsequence view. When ventricl septal defects and so on were excluded, the detection rate increased to 91%. Some defects had several abnormalities visualized at the 3-vessel subsequence view. CONCLUSION The 3-vessel subsequence view has high detection rate in identifying the presence of CHD.
Female ; Fetal Diseases ; diagnostic imaging ; Fetus ; Heart Defects, Congenital ; diagnostic imaging ; Humans ; Pregnancy ; Ultrasonography, Prenatal

We report a case of fetal pericallosal lipoma occurring at the anterior interhemispheric fissure and associated with agenesis of the corpus callosum. During targeted prenatal ultrasonography at 26 weeks' gestation, the lesion was seen as a highly echogenic mass. MR imaging performed at 35 weeks' gestation and during the postnatal period revealed a pericallosal fatty mass and agenesis of the corpus callosum.
Adult ; Brain Neoplasms/*diagnosis/ultrasonography ; Corpus Callosum/*abnormalities ; Female ; Fetal Diseases/*diagnosis/ultrasonography ; Gestational Age ; Human ; Infant, Newborn ; Lipoma/*diagnosis/ultrasonography ; *Magnetic Resonance Imaging ; Pregnancy ; *Ultrasonography, Prenatal

PURPOSE: Fast MRI has provided detailed and reproducible fetal anatomy. This study was performed to evaluate the usefulness of fetal MRI for prenatal diagnosis. MATERIALS AND METHODS: Fifty-six fetuses with congenital abnormalities on ultrasonography were evaluated by fetal MRI from 2001 to 2004 in Severance Hospital. Final diagnosis was made by postnatal pathology, postnatal MRI, and other modalities (such as ultrasound, retrograde pyelogram). A 1.5-Tesla superconductive MR imaging unit was used to obtain half-Fourier acquisition single-shot turbo spin images. RESULTS: Of the 56 fetuses, intracranial abnormalities were found in 26 fetuses, intraabdominal abnormalities in 17 fetuses, intrathoracic in 6 fetuses, head and neck in 5 fetuses, and other sites in 2 fetuses. There were six cases in which the diagnoses of fetal MRI and ultrasonography differed. In such cases, fetal MRI provided more exact diagnosis than ultrasonography (5 vs. 0). Three fetuses with intracranial abnormalities on ultrasonography were diagnosed as normal by fetal MRI and in postnatal diagnosis. CONCLUSION: Although ultrasonography is known as a screening modality of choice in the evaluation of fetus because of the cost-effectiveness and safety, the sonographic findings are occasionally inconclusive or insufficient for choosing the proper management. Thus, in this study, we suggest that fetal MRI is more useful than ultrasonography for the evaluation of intracranial abnormalities in some instances. For prenatal counseling and postnatal treatment planning, fetal MRI can be informative when prenatal ultrasonography is inadequate and doubtful.
Female ; Fetal Diseases/*diagnosis/ultrasonography ; Humans ; *Magnetic Resonance Imaging ; Pregnancy ; Prenatal Diagnosis/*methods ; Retrospective Studies ; Sensitivity and Specificity ; Ultrasonography, Prenatal