Key Clinical MessageUterine artery embolization (UAE) is generally performed for benign uterine conditions but is not recognized as a therapeutic option for endometrial cancer. We report a case in which UAE successfully achieved hemostasis for severe bleeding and unexpectedly resulted in complete tumor necrosis. This case suggests that, in selected patients—such as those requiring urgent bleeding control or those who are poor surgical candidates—targeted embolization of dominant tumor-feeding arteries may provide not only hemostasis but also potential tumor control.AbstractUterine artery embolization (UAE) is generally performed for benign conditions and is not used as a treatment for malignant tumors. We report a case of endometrial cancer in which UAE was performed for hemostasis and resulted in complete tumor necrosis.A 46-year-old nulliparous woman presented with abnormal genital bleeding, which worsened after endometrial biopsy. Imaging revealed a large intrauterine mass with active bleeding and severe anemia. UAE was performed to control bleeding prior to definitive diagnosis. Postprocedural MRI showed loss of tumor enhancement. Based on previous biopsy findings, high-grade adenocarcinoma was suspected, and radical surgery was performed one month later. Pathological examination demonstrated complete tumor necrosis, and the patient was diagnosed with stage IA endometrial carcinoma (endometrioid carcinoma G2 or serous carcinoma, pT1aN0M0). Adjuvant chemotherapy was administered, and no recurrence has been observed for 18 months.While UAE is typically used as palliative hemostasis for gynecologic malignancies, this case suggests that selective embolization of the dominant feeding arteries may offer potential tumor control when standard surgical treatment is challenging.Keywordsabnormal uterine bleeding; endometrial cancer; uterine artery embolization; tumor necrosisIntroductionTranscatheter arterial embolization is an established treatment modality for several malignant tumors, including hepatocellular carcinoma and specific brain tumors. In gynecology, however, uterine artery embolization (UAE) is primarily performed for benign conditions such as uterine fibroids or adenomyosis and is not considered a standard treatment for uterine malignancies. We report a rare case of endometrial cancer in which UAE, performed as a hemostatic intervention for severe bleeding, resulted in complete tumor necrosis.Case History/ExaminationA 46-year-old nulliparous woman with no notable medical or family history visited a previous physician for abnormal uterine bleeding and underwent endometrial biopsy. Two days later, genital bleeding increased, and she was transferred to our hospital. On admission, speculum examination revealed continuous bleeding from the external cervical os. Transvaginal ultrasonography showed a mass measuring 78 × 51 mm within the uterine cavity, and laboratory testing demonstrated anemia with hemoglobin 8.4 g/dL. Contrast-enhanced abdominal CT performed to identify the bleeding source revealed contrast extravasation into the uterine cavity (Figure 1-1, 1-2). Because malignancy could not be ruled out and definitive diagnosis was required before determining surgical management, we selected UAE as a temporizing measure rather than immediate hysterectomy.Uterine arteriography showed no active extravasation but revealed bilateral uterine artery enlargement(Figure 1-3, 1-4). Selective UAE was therefore performed on both uterine arteries using gelatin sponge particles. Hemostasis was achieved, and her anemia improved following transfusion of four units of red blood cells.On postoperative day 4, the patient developed fever and elevated inflammatory markers, raising concern for tumor necrosis or bacterial infection. As no laboratory findings suggested tumor lysis syndrome, she was treated with antibiotics, resulting in defervescence and improvement of inflammation. Contrast-enhanced MRI performed two days after UAE showed no enhancement in the intrauterine tumor or fibroid-like mass (Figure 1-5), indicating successful embolization. Although tumor assessment was challenging due to lack of enhancement, myometrial invasion appeared to be less than one-half based on myometrial contrast patterns. Chest and abdominal CT revealed no distant metastases or lymph node enlargement.Differential DiagnosisBased on clinical presentation and imaging findings, the differential diagnosis included endometrial carcinoma, submucosal leiomyoma with secondary bleeding, and uterine sarcoma. Given the persistent bleeding and imaging findings suggestive of malignancy, endometrial cancer was considered the most likely diagnosis.Outcome and Follow-upHistopathology from the previous biopsy suggested either grade 2 endometrioid carcinoma or high-grade serous carcinoma (Figure 2-1). Based on these findings, the tumor was clinically considered endometrial carcinoma stage IA. One month after UAE, the patient underwent total abdominal hysterectomy, bilateral salpingo-oophorectomy, pelvic and para-aortic lymphadenectomy, and partial omentectomy. Peritoneal cytology was negative. On permanent pathology, all tumor tissue was completely necrotic, leaving no viable tumor cells for histologic evaluation. Even when considering all necrotic tissue as tumor, myometrial invasion depth was estimated to be less than one-half (Figure 2-2 to 2-5). The final diagnosis was endometrial carcinoma (endometrioid carcinoma G2 or serous carcinoma, pT1aN0M0), stage IA.　As she was considered to have an intermediate- to high-risk profile for recurrence, adjuvant chemotherapy was administered. She has remained recurrence-free to date.DiscussionUterine artery embolization (UAE) is widely used in gynecology for the management of benign uterine disorders, including fibroids and adenomyosis, and as a palliative intervention for refractory bleeding in advanced malignant diseases[1]. However, its application in early-stage endometrial cancer has not been documented, and it is not considered part of standard oncologic management. Patients presenting with acute, heavy bleeding from a uterine tumor may require urgent hemostatic intervention. Emergency hysterectomy is sometimes performed in such settings, and several reports describe massive bleeding secondary to endometrial cancer leading to emergent surgical removal of the uterus[2,3]. Nonetheless, proceeding directly to hysterectomy without adequate imaging or histologic confirmation may risk suboptimal oncologic staging or incomplete surgery. In the present case, given the possibility of malignancy and the absence of a definitive diagnosis at presentation, UAE was selected as a temporizing measure to control bleeding safely until appropriate evaluation and definitive surgery could be performed. Previous studies have shown that embolization can achieve effective hemostasis in cervical cancer, where the uterine arteries represent the predominant blood supply to the tumor. For example, embolization in women with advanced cervical cancer has been associated with successful bleeding control in a significant proportion of cases, with some patients maintaining temporary disease stability[4]. By contrast, the efficacy of embolization in endometrial cancer appears limited, and available reports have largely involved advanced or recurrent disease, often with poor clinical outcomes[5]. One important reason for these differences lies in the vascular anatomy of the uterus. While the cervix is supplied mainly by branches of the uterine arteries, the uterine body has a more complex vascular network with notable collateral circulation from the ovarian arteries. Razavi et al. described an angiographic classification of utero-ovarian collateralization, demonstrating that these collateral pathways influence the success of embolization in uterine fibroids[6]. Therefore, the therapeutic effect of UAE for endometrial cancer likely depends on whether the uterine arteries represent the dominant feeding vessels. In our case, preprocedural CT demonstrated marked enlargement of the uterine arteries, particularly on the right, while the ovarian arteries were not dilated although ovarian artery angiography was not performed during uterine artery embolization,. Selective embolization of the uterine arteries alone achieved complete tumor necrosis, as confirmed by postoperative pathology. This finding supports the notion that, in selected patients, the uterine arteries may serve as the primary blood supply to the tumor, making embolization an effective adjunctive or temporizing intervention. In contrast, the uterine cervix is reported to be supplied predominantly by branches of the uterine arteries, suggesting that uterine artery embolization may achieve more reliable hemostatic and therapeutic effects in cervical cancer[7]. Based on these considerations, unlike uterine fibroids—where preservation of ovarian function is important endometrial cancer may potentially benefit from embolization if the dominant blood supply to the uterus is carefully evaluated, including selective uterine artery embolization and, when appropriate, combined ovarian artery embolization. In a study by Jackie et al., the incidence of newly diagnosed gynecologic malignancies within three years after uterine artery embolization was approximately 0.2% among women with no prior history of gynecologic cancer. Because some of these patients had not undergone preprocedural endometrial sampling, the possibility of preexisting microscopic malignancy cannot be excluded; however, if malignancy developed after UAE, this finding suggests that uterine artery embolization alone cannot serve as a substitute for definitive surgical treatment[8]. Our case also highlights an important limitation: UAE may cause extensive tumor necrosis, rendering subsequent histopathologic evaluation difficult or impossible. In the present patient, all tumor tissues were completely necrotic at the time of hysterectomy, and no viable carcinoma cells remained for definitive histologic classification. Although clinical management was not adversely affected, this raises concerns for cases in which tumor grade, histologic subtype, or lymphovascular invasion would influence treatment decisions. Therefore, when malignancy is suspected, obtaining tissue diagnosis—preferably by endometrial biopsy or hysteroscopic sampling—before performing UAE is strongly advisable. Early histologic confirmation allows accurate preoperative staging and prevents diagnostic uncertainty that may arise when only necrotic tissue is available after embolization. Despite these limitations, UAE may play a useful role in selected clinical situations. Elderly patients or those with significant comorbidities may not tolerate immediate surgery, and UAE can provide rapid hemostasis while potentially suppressing tumor viability. Moreover, in scenarios requiring urgent control of life-threatening bleeding, UAE offers a minimally invasive alternative with lower procedural risk compared with emergent hysterectomy. Current guidelines for endometrial cancer suggest radiation therapy as an alternative for patients unable to undergo surgery. UAE may represent an additional option in such patients by providing immediate bleeding control and possibly short-term tumor control, as illustrated by this case.In summary, while not established as a treatment for endometrial cancer, UAE may have therapeutic potential when the dominant tumor blood supply originates from the uterine arteries. At the same time, clinicians should be aware that embolization may compromise pathologic assessment, underscoring the importance of obtaining pre-embolization tissue diagnosis whenever feasible. Although not a standard treatment for endometrial cancer, UAE may provide both hemostatic and potential therapeutic benefits in selected patients. Accurate assessment of tumor blood supply and pre-embolization biopsy are essential to preserve diagnostic accuracy.Ethical ApprovalWritten informed consent was obtained from the patient for publication of this case report and accompanying images.Conflict of InterestThe authors declare no conflicts of interest.Reference1. Das C, Rathinam D, Manchanda S, et al. : Endovascular uterine artery interventions. Indian J Radiol Imaging, 4: 488–495, 2017.2. Srisomboon J, Phongnarisorn C, Suprasert P : Endometrial Cancer Diagnosed in Patients Undergoing Hysterectomy for Benign Gynecologic Conditions. Thai Journal of Obstetrics and Gynaecology, 13 : 29-32, 2001.3. Tsarna E, Kontou L , Tsochrinis A et al. : Emergency Hysterectomy in a Hemodynamically Unstable Patient: A Case of Uterine Leiomyosarcoma. The Cureus Journal of Medical Science, 12 : e11586, 2020.4. Alméciga A, Rodriguez J, Beltrán J, et al. : Emergency Embolization of Pelvic Vessels in Patients With Locally Advanced Cervical Cancer and Massive Vaginal Bleeding: A Case Series in a Latin American Oncological Center. JCO Global Oncology, 6 : 1376-1383, 2020.5. Choi J, Shin J, Chu H : Transcatheter Arterial Embolization for Palliation of Uterine Body Cancer Bleeding. Journal of The Korean Society of Radiology, 84 : 606–614, 2023.6. Razavi MK, Wolanske KA, Hwang GL, et al. : Angiographic Classification of Ovarian Artery-to-Uterine Artery Anastomoses: Initial Observations in Uterine Fibroid Embolization. Radiology, 224 : 707-712, 2002.7. Bereza T, Tomaszewski KA, Walocha J, et al. : Vascular architecture of the human uterine cervix, as assessed in light- and scanning electron microscopy. Folia Morphologia, 71 : 142-147, 2012.8. Bronico JVR, Matthews BJ, Perkins RB, et al. : Incidence of Gynecologic Cancers in Women after Uterine Artery Embolization. J Minim Invasive Gynecology, 28 :1231–1236, 2020.Author contributionYY contributed to patient management, data collection, and drafting of the manuscript.YA, YT, YO, MI participated in clinical management, data interpretation, and manuscript review.HS supervised the clinical course, contributed to interpretation of radiologic and pathologic findings, and critically revised the manuscript.NT and KK contributed to surgical management, pathological evaluation, and manuscript revision.All authors read and approved the final manuscript.Figure LegendsFigure 1Contrast-enhanced computed tomography performed prior to embolization showing active contrast extravasation into the uterine cavity(Arrow) and the presence of an intrauterine tumor(Arrow head,1A). Dilation of the right uterine artery was observed(Arrow, 1B).Figure 2Selective uterine arteriography demonstrating bilateral enlargement of the uterine arteries, before uterine artery embolization(2A;right side 2B;left side).Figure 3.Post-embolization contrast-enhanced pelvic MRI (T1-weighted) showing absence of enhancement in the intrauterine lesion, consistent with treatment effect following uterine artery embolization.Figure 4.Endometrial biopsy obtained at the referring institution demonstrating features suggestive of high-grade adenocarcinoma (endometrioid carcinoma G2 or serous carcinoma).Figure 5Gross pathological specimen from hysterectomy showing complete tumor necrosis within the uterine cavity(5A). Low-power view (loupe) of the resected specimen showing widespread coagulative necrosis throughout the tumor(5B). Intermediate-power microscopic view (×20) demonstrating necrotic tissue without viable tumor cells(5C). High-power microscopic view (×200) confirming complete tumor necrosis and absence of recognizable carcinoma cells(5D).

Key Clinical MessageA rare case of fetal small intestinal volvulus was diagnosed prenatally using MRI, with characteristic black-and-white and coffee-bean signs. Early diagnosis led to timely surgical intervention and favorable outcome.Case DescriptionA 35-year-old Japanese woman presented with decreased fetal movement at 33 weeks. Ultrasound revealed fetal ascites and dilated intestinal tract. Fetal MRI demonstrated characteristic findings: low T2 signal in dilated intestines (Fig1A, “black-and-white sign”) and adjacent thickened oval loops suggesting torsion (Fig1B, “coffee-bean sign”). Emergency cesarean section was performed. Laparotomy of the baby confirmed twisted necrotic small intestine(Fig2). Segmental resection was performed, and the postoperative course was favorable.AnswerDiagnosis: Fetal small intestinal volvulusIntrauterine diagnosis of fetal small intestinal volvulus is increasing due to the recognition of the disease and the improvement of diagnostic techniques, although it is a rare disease1). Ultrasound is the main diagnostic tool, but not many cases show specific findings for small bowel torsion, such as the whirlpool sign, and it is not easy to distinguish it from gastrointestinal atresia without torsion. However, when small bowel torsion occurs in utero, the prognosis may be poor and forced delivery may be required, so an accurate diagnosis is important. In recent years, MRI has been used for the diagnosis of various fetal diseases, and as the technology has advanced and the imaging time has shortened, the accuracy of diagnosis has also improved. There are still few reports of the use of MRI in cases of fetal small intestinal volvulus, but in addition to the whirlpool sign and coffee-bean sign seen in ultrasound examinations, the black and white sign, which reflects ischemic changes in the intestinal tract, has also been reported2). In this case, the White and black sign and Coffee been sign, which are characteristic of small intestinal volvulus, were shown.Author ContributionsMiyu Nakamura: primary author, case management, and manuscript preparation; Hiroshi Sato: manuscript preparation, prenatal diagnosis and imaging interpretation; Kazuyo Kakui: case supervision and critical review. All authors reviewed and approved the final manuscript.Figure LegendsFigure 1A. Fetal MRI (T2-weighted image) shows low signal intensity within the dilated small intestine (arrow), in contrast to adjacent normal bowel (“black-and-white sign”).Figure 1B. The twisted bowel loop (arrowhead) appears oval-shaped with wall thickening—resembling a “coffee-bean sign.”Figure 2. Postnatal laparotomy shows twisted and discolored small intestine with segmental perforation.References1. Shen AW, et al. Prenatal imaging features and perinatal outcomes of fetal volvulus-A literature review. Prenat Diagn. 2022;42(2):192–200.2. Kou C, et al. Prenatal diagnosis of midgut volvulus by fetal MRI: a retrospective study. Front Pediatr. 2024;12:1442866.

Key Clinical MessageX-linked hereditary hydrocephalus (XLH) is a common cause of fetal hydrocephalus. L1CAM gene variants are causative, and novel pathogenic variants continue to emerge, making accurate diagnosis and variant evaluation increasingly important.AbstractX-linked hereditary hydrocephalus (XLH) is a congenital form of hydrocephalus caused by variants in the L1CAM gene on the X chromosome. Diagnosis is often made prenatally via ultrasound or magnetic resonance imaging (MRI), but specific features such as adducted thumbs are subtle and easily missed. We report a case in which prenatal MRI at 34 weeks gestation revealed fetal hydrocephalus and adducted thumb, suggestive of XLH. Postnatal genetic testing confirmed a previously unreported frameshift variant in the L1CAM gene, c.2248dup (p.Tyr750LeufsTer36). The male infant required neurosurgical intervention and was also diagnosed with Hirschsprung’s disease. Genetic testing confirmed that the mother was a heterozygous carrier. In a subsequent pregnancy, non-invasive prenatal testing (NIPT) predicted a female fetus with no hydrocephalus. This case highlights the importance of thorough imaging and genetic evaluation in suspected XLH, especially given the increasing discovery of novel pathogenic variants.Case PresentationA 29-year-old Japanese woman, Gravida 1 Para 0, conceived with ovulation induction. Her medical and family history were unremarkable. Routine ultrasound at 20 weeks’ gestation revealed enlargement of the fetal lateral ventricles (posterior horn 16 mm)(Fig1). Follow-up imaging showed progressive ventriculomegaly and cortical thinning, suggesting fetal hydrocephalus.MRI at 34 weeks gestation confirmed enlargement of the lateral and third ventricles, with suspected aqueductal stenosis(Fig2A). Adducted left thumb was also observed(Fig2B). The fetus was male. Given these findings and clinical suspicion of XLH, prenatal genetic testing was offered but declined.Biparietal diameter was significantly enlarged (110.1 mm, +7.15 SD). A cesarean section was planned at 36 weeks 3 days due to breech presentation. A male infant was delivered with Apgar scores of 7 and 9 at 1 and 5 minutes, respectively. Birth weight was 3054 g (+1.94 SD), and head circumference 44.2 cm (+9.5 SD).He was admitted to the NICU. On day 2, elevated intracranial pressure necessitated cerebrospinal fluid reservoir placement. Hirschsprung’s disease was suspected and later confirmed by surgery at 38 days. A ventriculoperitoneal shunt was placed at 48 days. Genetic testing showed a hemizygous c.2248dup (p.Tyr750LeufsTer36) variant in the L1CAM gene. We then conducted another genetic counseling session with the patient and her husband and made a carrier diagnosis for the patient. The patient was found to be heterozygous for the same variant as the child (Fig.3, 4).Two years later, the mother conceived naturally. Non-invasive prenatal testing (NIPT) indicated a female fetus. Ultrasound showed no hydrocephalus. A healthy girl was born by repeat cesarean section at 38 weeks. Although carrier status was unknown, genetic counseling for future testing was planned upon her reaching adulthood.DiscussionX-linked hereditary hydrocephalus (XLH) was first reported in 1949 as a disease characterized by hydrocephalus caused by stenosis of the cerebral aqueduct, neuromotor retardation, spastic paralysis of the lower limbs, and adduction flexion of the thumb1). The L1CAM gene has been identified as the gene responsible for XLH. L1CAM is a neuronal cell adhesion molecule located on X chromosome q28 and has important functions in the development of the nervous system2).With recent improvements in the diagnostic accuracy of ultrasound, the incidence of fetal ventricular enlargement detected during antenatal screening has increased. Recent reports suggest that the incidence of fetal ventriculomegaly is around 1% and is generally defined as a diameter of 10 mm or greater in the posterior horn of the lateral ventricles, regardless of gestational age. Severe ventriculomegaly is more likely than mild ventriculomegaly to cause clinical symptoms such as neurodevelopmental delay. If ventriculomegaly is detected on fetal ultrasound, detailed intracranial assessment is required. MRI is useful for fetal intracranial assessment. MRI for detailed intracranial observation is particularly useful in cases with enlarged ventricles on ultrasound3). Adducted thumbs are reported to be an early sign of neurodevelopmental disorders4). Izumi et al. reported that adducted thumbs are present in only half of patients before 24 weeks’ gestation, but are present in most cases of XLH in the second trimester5). Therefore, the timing of evaluation need to be considered. In our case, the diagnosis of adducted thumbs was made by MRI, but there are no previous reports of adducted thumbs diagnosed by MRI. A more detailed evaluation of the brain by ultrasound and MRI may provide more information.The mode and timing of delivery should be discussed. Increased head circumference may complicate delivery, even by cesarean section, increase the risk of maternal injury, and adversely affect the child’s prognosis and should be considered on a case-by-case basis. There is no established method or timing of delivery in cases of fetal hydrocephalus, but cesarean delivery after confirmation of lung maturity is considered appropriate6). (Fetology, Chapter 16, Hydrocephalus.) Kuller JA et al suggested that caesarean delivery of a hydrocephalic fetus with macrocephaly contributes to a better prognosis7). In our case, we did not perform tests to confirm lung maturity. Although the fetus was delivered prematurely at 36 weeks’ gestation, it was delivered at a time when lung maturity was expected.The molecular mechanism and structure of the L1CAM protein are well understood. It is a plasma membrane protein of 1238 amino acids, with an extracellular portion of 1101 amino acids containing 6 IgG domains and 5 fibronectin III domains. Yamasaki M et al. classified the proteins into three classes according to the nature of these variants8). The variant in our case is class 3, which is the most severe. Michaelis RC et al. reported that the fibronectin domain variant is more severe than the IgG domain variant9). Although the variant in our case is a previously unreported variant, it is a frameshift variant in the L1CAM gene, which is known to be pathogenic due to loss of function according to the American College of Medical Genetics and Genomics (ACMG) guidelines10). The variant is located in the fibronectin III2 portion of the L1CAM gene, which is a highly pathogenic variant. Therefore, the variant is considered to be of very high pathogenicity (PVS1).There were no other XLH cases in the family and the probability of a de novo mutation was estimated to be about 1/3. The probability of the patient being a carrier was estimated to be about 2/3, which should be taken into account when diagnosing carriers of X-linked diseases, as the woman will be screened to see if she is a carrier.Regarding prenatal diagnosis, Serikawa T et al. reported that in families where the first child has XLH and the mother is known to be a carrier, the next and subsequent pregnancies should be sexed by chromosome analysis, followed by L1CAM gene analysis if the child is a boy11). As in this case, using NIPT to diagnose the sex of the fetus may be useful in avoiding invasive tests such as amniocentesis.　Preimplantation genetic diagnosis is limited to in vitro fertilization, but can reduce the burden on the mother. We need to offer this couple options based on the latest evidence when they consider their next pregnancy.ConclusionThis case highlights the importance of detailed fetal imaging in diagnosing XLH. MRI findings, particularly adducted thumbs, may raise early suspicion. Identification of novel L1CAM variants is vital for expanding our understanding of this condition. Genetic counseling and testing remain essential for informed family planning.Patient ConsentWritten informed consent was obtained from the patient for publication of this case report and accompanying images.Conflict of InterestThe authors declare no conflicts of interest.Author ContributionsRyosuke Horiuchi: primary author, case management, and manuscript preparation; Hiroshi Sato and Chinami Asai: manuscript preparation, prenatal diagnosis and imaging interpretation; Fumika Hamaguchi and Yu Takaishi: obstetric management; Kensuke Fujiwara and Yukiko Ando: genetic counseling and molecular analysis; Takahito Kawata and Yukari Atsumi: pediatric care; Kazuyo Kakui: case supervision and critical review. All authors reviewed and approved the final manuscript.Figure LegendsFigure 1. Ultrasonography at 20 weeks of gestation revealed an enlargement of the posterior horn of the lateral ventricle to 16 mm.Figure 2. Magnetic resonance imaging (T2-weighted image) at 34 weeks of gestation showed marked enlargement of the fetal lateral ventricles and the third ventricle, but no enlargement of the fourth ventricle (A). Adduction flexion of the left thumb was suspected (B).Figure 3. Pedigree of the patient and her family. Generations are shown in Roman numerals, individuals in Arabic numerals. Solid symbols indicate individuals diagnosed with XLH. The proband is marked by an arrow and the letter P.Figure 4. Nucleotide sequence analysis of the L1CAM gene showing the c.2248dup mutation (arrow). Analysis of peripheral blood revealed a heterozygous germline mutation in the mother.References1. Bickers DS, Adams RD. Hereditary stenosis of the aqueduct of Sylvius as a cause of congenital hydrocephalus. Brain. 1949;72(Pt. 2):246–62.2. Rosenthal A, Jouet M, Kenwrick S. Aberrant splicing of neural cell adhesion molecule L1 mRNA in a family with X-linked hydrocephalus. Nat Genet. 1992;2(2):107–12.3. Di Mascio D, et al. Role of prenatal MRI in fetuses with isolated severe ventriculomegaly: a multicenter study. Eur J Obstet Gynecol Reprod Biol. 2021;267:105–10.4. Ouyang YS, et al. Adducted thumb as an isolated morphologic finding: an early sonographic sign of impaired neurodevelopment. Medicine (Baltimore). 2018;97(38):e12437.5. Izumi R, et al. Adducted thumb may not be mandatory for prenatal diagnosis of X-linked hydrocephalus in early second trimester. Taiwan J Obstet Gynecol. 2022;61(2):353–55.6. Fetology. Chapter 16: Hydrocephalus. McGraw-Hill; pp134–141.7. Kuller JA, et al. Cesarean delivery for fetal malformations. Obstet Gynecol Surv. 1996;51(6):371–75.8. Yamasaki M, et al. CRASH syndrome: mutations in L1CAM correlate with severity of the disease. Neuropediatrics. 1997;28(3):175–78.9. Michaelis RC, et al. Site of a missense mutation in L1CAM influences infant mortality and severity of X-linked hydrocephalus. J Med Genet. 1998;35(11):901–4.10. Richards S, et al. Standards and guidelines for interpretation of sequence variants: a joint consensus recommendation of ACMG and AMP. Genet Med. 2015;17(5):405–24.11. Serikawa T, et al. Prenatal molecular diagnosis of X-linked hydrocephalus via a silent C924T mutation in the L1CAM gene. Congenit Anom (Kyoto). 2014;54(4):243–45.

A 53-year-old woman was admitted at our hospital for the treatment of acute myeloid leukaemia. Heterozygous c.566C>T mutation in the TP53 gene was found in leukaemia cells and germline cells. The number of germline mutation found incidentally will increase. Therefore, patients with such incidental findings must undergo adequate genetic counselling.

A 38‐year‐old patient with gravida 2, para 1 was referred to our hospital for perinatal management. At 37 weeks gestation, we diagnosed vasa praevia with meandering foetal vessels. Emergent caesarean section was performed. Obstetricians should be familiar with vasa praevia with meandering foetal vessels despite its rare occurrence.