Tsuguhiro Horikoshi

Fetal hydrops associated with congenital pulmonary myofibroblastic tumor

We report on a fetus with a congenital pulmonary myofibroblastic tumor, the prenatal detection of which with imaging modalities has not been reported up until now. A 32‐year‐old woman was referred to our hospital at 29 weeks’ gestation because of severe fetal hydrops. Sonograms and magnetic resonance imaging showed a large solid tumor in the left thorax. The fetus died in utero the next day. Autopsy confirmed that the tumor was confined to the lower lobe of the left lung, and circulatory insufficiency from compression by the tumor was considered to be the cause of fetal hydrops and demise. Histologic examination revealed that the tumor was composed of uniform short spindle cells with no atypia and a large number of vessels. In addition, with immunohistochemical studies, the tumor cells were stained for calponin but not for cluster differentiation (CD)‐31, CD‐34, α‐smooth muscle actin or S‐100.

Massive cystic lymphangiomas of a fetus

ABSTRACT  We present a fetus with progressive massive subcutaneous lymphangiomas leading to intrauterine death. A 28‐year‐old woman was referred to our hospital because of a precordial cystic mass of the fetus. An ultrasound revealed lymphangiomas extending from bilateral axillae to the anterior chest wall. At 18 weeks’ gestation, amniocentesis was performed and the karyotype of the fetus was found to be normal 46, XY. Thereafter the lesions increased in size gradually and spread over the body. Amniotic fluid decreased, pericardial, and pleural effusion appeared, and cardiomegaly became evident. The fetus died in utero at 25 weeks’ gestation. Postmortem examination revealed a male fetus surrounded with multicystic soft masses spreading over the body, and syndactyly (left third and fourth fingers) was present. Histologically, a number of irregularly dilated lymphatics extended through subcutaneous tissues to the skeletal muscles. No communications between the cysts and the thoracic or abdominal cavity existed, and no lymphatic dilations in the viscera were confirmed. As far as we know, such conditions have rarely been reported. Considering that in previous literature, a favorable prognosis of a fetus with an atypically located (lateral cervical or non‐cervical) lymphangioma with a normal karyotype has been reported, our case may be included in a distinct pathological entity. When we find a lymphangioma in a fetus, careful follow‐up by ultrasound is mandatory.

Prenatal ultrasound and magnetic resonance imaging depiction of a small sublingual ranula.

Prenatal diagnosis of a congenital ranula has rarely been reported. We describe the case of a small ranula depicted on prenatal sonogram and magnetic resonance imaging, in which we could confirm the intact airway. Although the size of the ranula noted in our fetus was the smallest among the cases reported in the English literature, both of these imaging modalities clearly presented typical diagnostic features present on both ultrasound and magnetic resonance imaging.

A case of pyruvate dehydrogenase E1α subunit deficiency with antenatal brain dysgenesis demonstrated by prenatal sonography and magnetic resonance imaging

Prenatal depiction of brain dysgenesis in patients with pyruvate dehydrogenase complex (PDHc) deficiencies has been infrequently reported. As PDHc plays a critical role in the brain that obtains all of the energy from the aerobic oxidation of glucose, its deficiency is a severe inborn disorder of metabolism, which predominantly affects the nervous system. This report describes a case of PDHc deficiency with antenatal brain dysgenesis depicted in detail by fetal ultrasound and magnetic resonance imaging. This is the first case report clearly demonstrating the developing mechanism and time course of antenatal brain lesions in a patient with PDHc deficiency.

Prenatal diagnosis of Holt-Oram syndrome : Role of 3-D ultrasonography

Holt‐Oram syndrome (HOS) is an autosomal dominant disorder consisting of a congenital heart defect in combination with upper limb abnormalities. This report presents the ultrasonographic follow‐up of a fetus at risk for this syndrome. An abnormal four‐chamber view of the heart and slight shortening of the forearm were found by prenatal ultrasound performed at 16 weeks of gestation. At 25 weeks of gestation, detailed sonographic examination clearly revealed abnormalities in the upper limbs and heart of the fetus. At 39 weeks of gestation, spontaneous labor and delivery produced a female infant weighting 2940 g. Postnatal examination of the infant confirmed the prenatal sonographic findings. 3‐D ultrasound has an important role in prenatal diagnosis of HOS, which is essential for proper genetic counseling.

Monochorionic triplet pregnancy complicated by severe fetofetal transfusion

We report two cases of fetofetal transfusion in monochorionic triamniotic triplet pregnancies. Case 1 : At 23 weeks’ gestation an amnioreduction was carried out. Three days later, the donor triplet died in utero. Immediately after that, a cardiotocogram of the triplet who had been thought to be unaffected by the fetofetal transfusion, showed a non‐reassuring fetal status. Although cesarean section was carried out, none of the triplets survived. Case 2 : At 24 weeks’ gestation a woman was transferred to our center because of fetofetal transfusion in monochorionic triplets. Cesarean section was carried out. However, the recipient died on the 75th day after birth, and the others had neurological problems. Previous reports on fetofetal transfusion in triplets are very limited. The prognosis of this condition has been reported to be severe, irrespective of chorionicity, gestational age at delivery, maternal age, and parity. When managing a monochorionic or dichorionic triplet pregnancy, serial and careful ultrasound examination is mandatory to find early symptoms of this serious condition.

Prenatal findings in a fetus with contiguous gene syndrome caused by deletion of Xp22.3 that includes locus for X-linked recessive type of chondrodysplasia punctata (CDPX1)

The X‐linked recessive type of chondrodysplasia punctata (CDPX1) is a skeletal disorder that is characterized by stippled calcification at an epiphyseal nucleus and the surrounding soft tissue, short stature and an unusual face because of nasal hypoplasia. In most of the patients, this condition is noted after birth because of a characteristic face or respiratory problems. Here, we report a fetus with CDPX1. Two‐dimensional ultrasound examination revealed unexplained polyhydramnios and a male fetus. Fetal biometry showed shortened long bones. Three‐dimensional ultrasonography clearly demonstrated a hypoplastic nose with a depressed nasal bridge and contracture of wrists and fingers. Chromosome analysis of the amniotic fluid cells revealed the 46,Y,del(X)(p22.3) karyotype. Fluorescence in situ hybridization revealed a deletion of subtelomeric sequences at the Xpter and STS gene, but not a deletion of the KAL gene. The genomic copy number analysis demonstrated terminal deletion of 8.33 Mb that included SHOX, CSF2RA, XG, ARSE, NLGN4 and STS genes. We think that our case presents typical features of a fetus with this disorder and will be of great help in prenatal ultrasound diagnosis.

Birthweight placental weight ratio of appropriate‐for‐dates and light‐for‐dates infants in preterm delivery

Aim:  Although birthweight placental weight ratio (BPR) may be a promising indicator which reflects pathophysiology of fetal growth restriction (FGR), the standard of BPR changes throughout gestation in a Japanese population has not been established as far as we know. Therefore, we first examined BPR of appropriate‐for‐dates (AFD) infants in each gestational week in preterm deliveries. We then compared it with that in a group of light‐for‐dates (LFD) infants born from mothers with and without pregnancy‐induced hypertension (PIH).

Prenatal diagnosis and management of congenital chloride diarrhea: A case report of 2 siblings.

Congenital chloride diarrhea (CLD) is a rare hereditary disease. The basic defect of CLD is massive loss of Cl− and fluid into the ileum and colon. Prenatal diagnosis of this disease is quite important because the infant requires electrolyte supplementation from the early postnatal period. Two cases in which prenatal diagnoses of CLD were made in siblings are reported. Extreme electrolyte imbalance may cause fetal cardiac dysfunction or a poor general condition leading to a non‐reassuring fetal status in cases with CLD. Therefore, frequent fetal monitoring using cardiotocograms and ultrasound may be beneficial to some fetuses with CLD to detect fetal deterioration. In addition, repeated amnioreduction may be required to treat severe polyhydramnios and threatened preterm delivery.

Voronoi diagram description of the maternal surface of the placenta: Preliminary report

Aim:  Voronoi diagram is defined as a diagram of a collection of geometric points that defines a partition of space into cells, each of which consists of the points closer to one particular point than to any other. The distinctive feature of a placentone is the fetomaternal circulatory unit which is composed of one villous tree with a corresponding, centrifugally perfused portion of the intervillous space. Based on this placental architecture, in this study we generated Voronoi diagram from the photographic images of the maternal surface of the placenta and compared them with the shapes of the actual placentones.