CASE REPORTA 34-year-old woman, gravida 3 para 0, was referred to our institute at 37 weeks' gestation for evaluation of a fetal abdominal cystic mass. She had conceived by intrauterine insemination with ovulation induction after three spontaneous miscarriages. Because of her history, low-dose aspirin (81 mg/day) was administered in the current pregnancy up to 36 weeks' gestation. A routine fetal ultrasound examination in the second trimester showed no abnormal findings, but at 35 weeks of gestation a cystic mass was detected in the fetal abdomen. Detailed ultrasonography at referral revealed a retrovesical septate hypoechogenic mass measuring 77 × 76 × 73 mm within the fetal abdomen (Figure 1). Bilateral mild hydronephrosis was present, but there was no ascites. Cardiac anatomy and the extremities were normal. It was not possible to visualize the fetal external genitalia by ultrasound due to the late gestation and the sonographic findings were inconclusive. Magnetic resonance imaging (MRI) was then used to perform a detailed evaluation of the fetal abdominal mass. MRI confirmed that the abdominal mass was located in the midline posterior to the bladder and showed that it was connected to the dilated uterine cavity (Figure 2a). The mass was fluid-filled with a mid-plane septum (Figure 2b). A four-chamber appearance consisting of the septate mass and two small uterine cavities was observed (Figure 2c). These findings were consistent with a diagnosis of hydrometrocolpos with septate vagina and uterus didelphys. The rectum was not clearly visible in the T1-weighted image in which the presence of meconium appeared as hyperintense signals (Figure 2d). Although the cystic lesion was large and occupied the fetal abdomen, pulmonary hypoplasia was not observed on MRI.At 38 weeks' gestation a Cesarean section was performed due to the arrest of labor during induction with oxytocin. A female infant weighing 2438 g and with a length of 44 cm, and Apgar scores of 8 and 8 after 1 and 5 min, respectively, was delivered. Physical examination revealed abdominal distension, ambiguous genitalia and anal atresia. However, the face, limbs and digits were normal. There was a single perineal opening through which a urethral catheter was introduced, but

BACKGROUND To avoid hemolytic disease of the fetus and newborn resulting from maternal alloantibodies against fetal Rh antigens, anti-D immunoglobulin is routinely administered to RhD-negative pregnant women in Japan. Fetal RHD genotyping using cell-free DNA may prevent unnecessary antibody administration; however, current PCR-based methods, which detect RHD deletion, do not address the higher rates of RHD-positive D antigen-negative alleles in nonwhite populations without additional inspections. METHODS We developed an amplicon-sequencing method that could estimate the type of paternally inherited fetal RHD allele from 4 major RHD alleles in the Japanese population: the D antigen-positive allele (RHD*01, 92.9%) and 3 D antigen-negative alleles (RHD*01N.01, 6.6%; RHD*01EL.01, 0.3%; RHD*01N.04, 0.1%) using cell-free DNA obtained from the blood plasma of pregnant women. RESULTS The method correctly determined the fetal RhD type even when RhD-negative pregnant women possessed an RHD-positive D antigen-negative allele: RHD*01EL.01 or RHD*01N.04. CONCLUSIONS This method is a reliable noninvasive fetal RHD genotyping method for Japanese and other East Asian populations. The genotyping principle of amplifying 2 different regions using the same primer pair and distinguishing them by their sequence difference during the subsequent mapping procedure is also theoretically applicable to RHD-positive D antigen-negative alleles prevalent in Africans. Therefore, this method offers an opportunity to consider targeted administration of anti-D immunoglobulin to RhD-negative pregnant women in East Asian and African countries and to increase the specificity of the fetal RHD genotyping implemented nationwide in several European countries.

The expected live-birth rate with FP indicated that one in three oncofertility patients would not expect to have a live birth following oocyte retrieval and embryo cryopreservation. While the decision trees were useful as decision-making tools for women contemplating FP, in the context of the current restrictions on oocyte donation and the extremely small number of adoptions in Japan, the remaining options for fertility after cancer are limited. In order for cancer survivors to feel secure in their decisions, the decision tree may need to be adapted simultaneously with improvements to the social environment, such as greater support for adoption.

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Branchio-oculo-facial syndrome (BOFS) is a rare autosomal dominant disorder characterized by craniofacial, ocular, and ectodermal anomalies. BOFS is caused by mutation of the transcription factor AP2-alpha gene (TFAP2A). We performed detailed genetic analysis of a Japanese family with clinically suspected BOFS and identified a novel missense mutation resulting in a predicted amino-acid substitution in the highly conserved basic DNA-binding domain of TFAP2A (NM_003220.2:c.699A>C).

Aim: This study aimed to clarify the genetic and epigenetic features of recurrent hydatidiform mole (RHM) in Japanese patients. Methods: Four Japanese isolated RHM cases were analyzed using whole-exome sequencing. Villi from RHMs were collected by laser microdissection for genotyping and DNA methylation assay of differentially methylated regions (DMRs). Single nucleotide polymorphisms of PEG3 and H19 DMRs were used to confirm the parental origin of the variants. Results: A novel homozygous nonsense mutation in NLRP7 (c.584G>A; p.W195X) was identified in 1 patient. Genotyping of one of her molar tissue revealed that it was biparental but not androgenetic in origin. Despite the fact that the RHM is biparental, maternally methylated DMRs of PEG3, SNRPN and PEG10 showed complete loss of DNA methylation. A paternally methylated DMR of H19 retained normal methylation. Conclusions: This is the first Japanese case of RHM with a novel homozygous nonsense NLRP7 mutation and a specific loss of maternal DNA methylation of DMRs. Notably, the mutation was identified in an isolated case of an ethnic background that has not previously been studied in this context. Our data underscore the involvement of NLRP7 in RHM pathophysiology and confirm that DNA methylation of specific regions is critical.

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