Kimiyo Takagi

Comparison of biochemical markers and cervical length for predicting preterm delivery

Aim:  To examine the clinical utility of several prognostic factors for predicting preterm delivery.

Genital abnormalities in Pallister–Hall syndrome: Report of two patients and review of the literature†

We describe two patients with Pallister–Hall syndrome (PHS) with genital abnormalities: a female with hydrometrocolpos secondary to vaginal atresia and a male with micropenis, hypoplastic scrotum, and bilateral cryptorchidism. Nonsense mutations in GLI3 were identified in both patients. Clinical and molecular findings of 12 previously reported patients who had GLI3 mutations and genital abnormalities were reviewed. Genital features in the male patients included hypospadias, micropenis, and bifid or hypoplastic scrotum, whereas all the females had hydrometrocolpos and/or vaginal atresia. No hotspot for GLI3 mutations has been found. The urogenital and anorectal abnormalities associated with PHS might be related to dysregulation of SHH signaling caused by GLI3 mutations rather than hormonal aberrations. We recommend that clinical investigations of genital abnormalities are considered in patients with PHS, even those without hypopituitarism.

Complete hydatidiform mole in a triplet pregnancy coexisting two viable fetuses: case report and review of the literature.

We report a rare case of a complete hydatidiform mole with two or more coexisting fetuses where both infants survived without complications. A male infant weighing 1258 g and a female infant weighing 880 g were delivered without complications and discharged 95 days after the birth. The analysis of DNA microsatellite polymorphisms indicated that the mole was of paternal origin and probably homozygous. The mother suffered from multiple pulmonary metastasis of the hydatidiform mole which was detected 3 days after the surgery and was successfully treated with methotrexate. A complete hydatidiform mole with two or more coexisting fetuses produces a dilemma between immediate termination and pregnancy continuation. Although the present case resulted in a favorable outcome, a review of the 14 reported cases suggests that the high fetal loss rate (90%) must be a consideration in the decision regarding management of such a pregnancy.

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.

Pregnancy complicated by diffuse chorioamniotic hemosiderosis: obstetric features and influence on respiratory diseases of the infant.

Aim:  To clarify the clinical features of pregnancy and neonatal respiratory problems associated with diffuse chorioamniotic hemosiderosis (DCH).

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.

Hernia of the Umbilical Cord and Associated Ileal Prolapse through a Patent Omphalomesenteric Duct: Prenatal Ultrasound and MRI Findings

Background: It is quite unusual for a fistula to communicate directly with the surface of the hernia sac, and associated prolapse of the ileum through a patent omphalomesenteric duct is also extremely rare. Objectives: We report a unique case of a fetus exposed to methimazole in utero, with a hernia of the umbilical cord and associated ileal prolapse through a patent omphalomesenteric duct. Methods and Results: In this case, the umbilical cord was attached to a small unruptured omphalocele, to the right of which a small everted loop of the ileum had evaginated. The hernia sac measured 2.5 cm and contained only ileum. The ileal prolapse was T shaped and had two visible mucosal ostia, and meconium was discharging from the ostium on the oral side. We confirmed that this loop of small bowel had prolapsed through a patent omphalomesenteric duct, which had a fistulous communication with the surface of the hernia sac. This resulted in the misleading prenatal findings on ultrasound and MRI, which were suggestive of a gastroschisis. Such a case with prenatal ultrasound and MRI findings has not been reported previously. Conclusion: The observed congenital anomaly in our fetus might be associated with prenatal exposure to methimazole.

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.

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.

Prenatal sonographic features of complete covered cloacal exstrophy

A 29-year-old Japanese primigravida was referred to our hospital at 25 weeks’ gestation with oligohydramnios. Ultrasonographic examination confirmed the presence of severe oligohydramnios and showed an irregularly shaped cystic structure in the fetal pelvis. The cyst had echogenic contents and peristaltic movement of the cyst wall was observed. Although the fetal bladder could not be identified at the first visit, both kidneys seemed structurally normal. Follow-up ultrasound revealed anhydramnios and an enlarged cystic structure and dilated loops of bowel in the fetus. The fetal bladder was part of the cystic structure and communicated with the dilated bowel (Figure 1a). The echogenic contents, thought to be a mixture of meconium and urine, were clearly seen to be draining into the bowel (Figure 1b). The usual aspect of the anal canal could not be depicted. An antenatal diagnosis of urinary tract obstruction with vesicointestinal fistula was strongly suspected. Anhydramnios and dilatation of bowel loops in the fetus persisted until delivery (Figure 1c). Despite the possibility of lethal pulmonary hypoplasia, the patient opted to continue the pregnancy and under go postnatal treatment, including reconstructive surgery, in our center. She did not wish to undergo fetal blood sampling for karyotyping and renal function. Because of placental abruption, a female infant weighing 2450 g was delivered by Cesarean section at 36 weeks’ gestation. The infant was noted to have only a single perineal outlet without an anus. Although the infraumbilical abdominal wall and pubic lesion were intact, a radiograph showed a sacral deformity. She was ventilated for respiratory insufficiency for a few days, but clinically exhibited almost normal pulmonary function thereafter. Cystoscopy revealed that she had a short cloacal channel connected to a broad bladder neck. The bowel and two vaginas opened into the bladder. The bladder was filled with a mixture of meconium and urine, without leakage via the perineal outlet. Laparotomy of the infant revealed that a large fistula, measuring 2.5 cm in diameter, connected the cecum to the back of the bladder. The colon continued for about 6 cm beyond the fistula and ended blindly. On both sides of the bladder, a uterus, a uterine tube and an ovary were present (Figure 2). Postnatal diagnosis of complete covered cloacal exstrophy (CCCE) was made. The cecovesical fistula was divided, the gaps in the bladder and cecum were sutured and an end colostomy was performed. Although she had total urinary incontinence, her renal function maintained and the postoperative course was otherwise uneventful in the neonatal period. Figure 1 Ultrasound images obtained at 26 (a, b) and 31 (c) weeks’ gestation. (a) The fetal bladder (arrow), identified by the surrounding umbilical arteries on Doppler imaging, communicates with the dilated bowel (arrowhead). (b) The fluid in the fetal bladder is observed to contain echogenic sediment. (c) Dilatation of bowel loops in the fetus persisted until delivery.