Successful use of single-port laparoscopic surgery for ovarian cyst removal during pregnancy: a case series of three cases.

Pregnant patients have an increased risk of torsion compared to that seen in nonpregnant patients, and those with larger cysts undergo torsion more frequently, which can cause obstructions during labor. The risks associated with emergent surgery are higher than those with elective surgery. Laparoscopic surgery can be safely performed during pregnancy. Single-port laparoscopic surgery is reported to be a minimally invasive laparoscopic technique. We report three cases of ovarian dermoid cysts, which were successfully removed during pregnancy through elective single-port laparoscopic surgery. In all cases, imaging showed a dermoid cyst and the cyst size was greater than 6 cm. All patients requested the surgery. The ovarian cysts were successfully removed by single-port laparoscopy without additional ports and without intra- or postoperative complications. All pregnancies progressed well and delivered vaginally at full term. The single-port laparoscopic approach is useful for removing ovarian cysts during pregnancy.

A rare case of colorectal metastasis found 8 years and 10 months after gastrectomy for advanced gastric cancer: A case report and literature review.

Colorectal metastasis from gastric cancer is rare and may develop several years after gastric cancer surgery. Therefore, colonoscopic findings provide useful diagnostic information. The present report describes a case of gastric cancer colon metastasis diagnosed 8 years and 10 months after gastrectomy for advanced gastric cancer. A 64-year-old male patient underwent gastrectomy in December 2010 and received chemotherapy for 4 years and 10 months after the surgery. Subsequently, the patient was diagnosed as having colorectal cancer by computed tomography in February 2019. Colonoscopy revealed linitis plastica-like colon stenosis; however, biopsy pathology did not reveal any findings indicating malignancy. Right hemicolectomy was performed, and pathological examination revealed colon metastasis from gastric cancer. The patient received chemotherapy but died of peritoneal carcinomatosis 1 year and 8 months after the colectomy. According to literature, colorectal metastasis from gastric cancer is often attributed to hematogenous metastasis and often exhibits characteristic macroscopic features. Treatments, such as chemotherapy for gastric cancer and/or colorectal resection, are considered effective for gastric cancer colorectal metastasis.

Uterine contraction may not be an independent risk factor for spontaneous preterm birth before 35 weeks in women with cervical shortening.

OBJECTIVE: To compare the risk of spontaneous preterm birth (SPTB) before 35 weeks in symptomatic and asymptomatic women with cervical shortening at 16-34 weeks under mid-trimester universal screening of cervical length (CL). METHOD: Multicenter retrospective cohort study involving six secondary/tertiary perinatal centers was planned in 2016. Primary outcomes were SPTB before 35 weeks. In all, 407 women were analyzed using multivariable logistic regression analysis for predicting SPTB before 35 weeks while adjusting for presence/absence of uterine contraction, gestational weeks, vaginal bleeding, and CL classification (1-9, 10-14, 15-19, and 20-24 mm) at admission, the execution of cervical cerclage, and the presence/absence of past history of preterm delivery. RESULTS: SPTB before 35 weeks of pregnancy occurred in 14.5%. Presence of uterine contraction was not an independent risk factor for SPTB before 35 weeks (adjusted odds ratio [aOR] 1.22, 95% confidence interval [CI] 0.67-2.20). CL of 1-9 mm, CL of 10-14 mm, and vaginal bleeding at admission were independent risk factors for SPTB before 35 weeks (aOR 5.35, 95% CI 2.11-13.6; aOR 2.79, 95% CI 1.12-6.98; and aOR 2.37, 95% CI 1.12-5.10, respectively). CONCLUSION: In women with a cervical shortening at 16-34 weeks, presence of uterine contractions at admission may not be an independent risk factor for the occurrence of SPTB before 35 weeks.

Conjugated Bile Acids Accelerate Progression of Pancreatic Cancer Metastasis via S1PR2 Signaling in Cholestasis.

BACKGROUND: Pancreatic cancer (PC) has an extremely high mortality rate, where obstructive jaundice due to cholestasis is a classic symptom. Conjugated bile acids (CBAs) such as taurocholic acid (TCA) have been reported to activate both the ERK1/2 and AKT signaling pathways via S1P receptor 2 (S1PR2) and promote growth of cholangiocarcinoma. Thus, we hypothesize that CBAs, which accumulate in cholestasis, accelerate PC progression via S1PR2. METHODS: Murine Panc02-luc and human AsPC-1, MIA PaCa2, and BxPC-3 cells were treated with TCA, S1PR2 agonist CYM5520, S1PR2 antagonist JTE-013, sphingosine-1-phosphate (S1P), and functional S1P receptor antagonist (except S1PR2) FTY720. Bile duct ligation (BDL) was performed on liver implantation or intraperitoneal injection of Panc02-luc cells. RESULTS: Panc02-luc and AsPC-1 cells predominantly expressed S1PR2, and their growth and migration were stimulated by TCA or CYM5520 in dose-dependent manner, which was blocked by JTE-013. This finding was not seen in PC cell lines expressing other S1P receptors than S1PR2. Panc02-luc growth stimulation by S1P was not blocked by FTY720. BDL significantly increased PC liver metastasis compared with sham. PC peritoneal carcinomatosis was significantly worsened by BDL, confirmed by number of nodules, tumor weight, bioluminescence, Ki-67 stain, ascites, and worse survival compared with sham. CYM5520 significantly worsened PC carcinomatosis, whereas treatment with anti-S1P antibody or FTY720 also worsened progression. CONCLUSIONS: CBAs accelerated growth of S1PR2 predominant PC both in vitro and in vivo. This finding implicates S1PR2 as a potential therapeutic target in metastatic S1PR2 predominant pancreatic cancer.

[A case of primary mesenteric schwannoma with secondary ossification].

Schwannoma is a tumor that usually originates soft tissue peripheral nerves. Primary mesenteric schwannomas are rare, and furthermore, there are few reports of this with secondary ossification, which is extremely rare. Herein we report a case of primary mesenteric schwannoma with secondary ossification in a 46-year-old Japanese woman with recurrent postprandial abdominal pain and weight loss. Her vital signs were stable, and her blood test was almost normal except for a slight elevation of CA125. Computed tomography revealed a whirl sign indicative of superior mesenteric torsion. In contiguity with a constricted portion of the intestine, an approximately 70-mm, well-circumscribed tumor with calcifications, which was fed by the superior mesenteric artery was visible. On magnetic resonance imaging, the tumor appeared hypointense on T1-weighted images and inhomogeneous hyperintense on T2-weighted images. As a gastrointestinal mesenchymal tumor was suspected, we performed partial small intestinal resection including the tumor. Intraoperatively, the tumor was found to be incarcerated into a hernial orifice created by the adhesion of the sigmoid colon with the abdominal wall and uterus. Pathologically, the tumor had no continuity with the intestinal wall. It mainly consisted of hypocellular mucous, and spindle-shaped cells were sparsely distributed. Some areas were hypercellular with palisading arrangement cells. This was suggestive of an Antoni B>Antoni A type schwannoma. It also included secondary ossification and blood vessel assembly. The patient has had an uneventful postoperative course without recurrence for about 17 months. Primary mesenteric schwannoma is rare, and to our knowledge, only 20 cases including this case have been reported. Moreover, there has only been one report of primary mesenteric ossified schwannoma in 2018, and there has been no report in Japan so far. We report our experience with the successful treatment of primary mesenteric ossified schwannoma and review the literature.

Analysis of risk factors for surgical site infection and postoperative recurrence following inguinal and femoral hernia surgery in adults.

OBJECTIVE: We aimed to evaluate the causes of complications following surgery for inguinal and femoral hernia, using surgical site infection (SSI) and recurrence rate as indicators of outcomes to consider appropriate treatments. METHODS: We retrospectively assessed the medical histories of 1,098 patients with adult inguinal and femoral hernias who underwent herniorrhaphy between July 2010 and March 2019. Using SSI and recurrence rate as indicators of outcomes, we statistically assessed the influence of preoperative and operative conditions on surgical outcomes. RESULTS: The occurrence of postoperative SSI was significantly more frequent in patients who experienced a long surgical duration, excessive blood loss, and incarceration; underwent emergency surgery and bowel resection; and in whom no mesh sheet insertion was performed. There was no correlation between mesh use and SSI in cases that did not require emergency incarceration repair. For cases involving hernia incarceration, the use of a mesh sheet was avoided to prevent potential infection, which could explain the high incidence of SSI in cases where mesh was not used. The hernia may have recurred due to technical issues during the procedure, as well as failure to ligate the hernia sac. CONCLUSIONS: Selecting the appropriate surgical method for hernia repair may reduce the incidence of SSI. If manual reduction of inguinal hernias is not possible, an appropriate surgical procedure should be determined based on laparoscopic findings in facilities where laparoscopic hernia surgeries are frequently performed. Moreover, in cases without infection and bowel resection, mesh use may be beneficial. Recurrence can be prevented by ligating the hernia sac during surgery and solving relevant technical problems.

Effects of prophylactic vaginal progesterone administration on mild cervical shortening (TROPICAL study): a multicenter, double-blind, randomized trial.

Vaginal progesterone reduces the preterm birth frequency among high-risk women with a cervical length ≤25 mm at midtrimester. However, the strategy may promote no substantial reduction in overall preterm birth rates, because such high-risk women are only approximately 2% of all pregnant women, which restrict the number of participants. Our purpose was to determine whether prophylactic vaginal progesterone administration can preserve cervical length and reduce preterm birth rates among women with mild cervical shortening.This multicenter, parallel-arm, double-blind, randomized, placebo-controlled trial involved vaginal progesterone administration (200 mg daily from 16 to 33 weeks of gestation) among asymptomatic women with a singleton pregnancy and a sonographic cervical length of 25 to <30 mm between 16 and 23 weeks of gestation. The primary and secondary endpoints were cervical shortening rates at 34 weeks of gestation and preterm birth rates, respectively. The trial was registered at the University Hospital Medical Information Network (UMIN000013518) in Japan.Between April 2014 and March 2018, 119 women were randomly assigned to the progesterone group (n = 59) and the placebo group (n = 60). No significant differences in the frequency of women with a cervical length ≥20 mm at 34 weeks of gestation were observed between both groups. All preterm births occurred after 34 weeks of gestation, except for one patient in the placebo group. The progesterone group had a lower rate of preterm birth before 37 weeks than the placebo group (3.4% vs. 15.0%, respectively; p < .05).Despite having no effect on preserving cervical length, prophylactic vaginal progesterone administration reduced preterm birth frequency among women with mild cervical shortening. Our results are suggesting that women with mild cervical shortening are at risk for late preterm birth and the need for expanding progesterone treatment indications to include not only high-risk but also low-risk populations.

Isolation and characterization of fetal nucleated red blood cells from maternal blood as a target for single cell sequencing-based non-invasive genetic testing.

PURPOSE: Although non-invasive prenatal testing (NIPT) based on cell-free DNA (cfDNA) in maternal plasma has been prevailing worldwide, low levels of fetal DNA fraction may lead to false-negative results. Since fetal cells in maternal blood provide a pure source of fetal genomic DNA, we aimed to establish a workflow to isolate and sequence fetal nucleated red blood cells (fNRBCs) individually as a target for NIPT. METHODS: Using male-bearing pregnancy cases, we isolated fNRBCs individually from maternal blood by FACS, and obtained their genomic sequence data through PCR screening with a Y-chromosome marker and whole-genome amplification (WGA)-based whole-genome sequencing. RESULTS: The PCR and WGA efficiencies of fNRBC candidates were consistently lower than those of control cells. Sequencing data analyses revealed that although the majority of the fNRBC candidates were confirmed to be of fetal origin, many of the WGA-based genomic libraries from fNRBCs were considered to have been amplified from a portion of genomic DNA. CONCLUSIONS: We established a workflow to isolate and sequence fNRBCs individually. However, our results demonstrated that, to make cell-based NIPT targeting fNRBCs feasible, cell isolation procedures need to be further refined such that the nuclei of fNRBCs are kept intact.

Safety assessment of the prophylactic use of silicone gel sheets (Lady Care®) for the prevention of hypertrophic scars following caesarean section.

This study aimed to investigate the side effects of silicone gel sheet (Lady Care®) and evaluate its prophylactic efficacy in preventing abnormal scarring. Sixty women who underwent caesarean section were recruited from September 2016 to September 2017 in this prospective study. Lady Care® was applied from the 2nd to the 6th postoperative months. Side effects of Lady Care® were evaluated through medical examinations and questionnaires. A plastic surgeon diagnosed abnormal scarring. Pruritus was diagnosed in 25 (47.2%) patients; folliculitis, four (7.5%); dry skin, four (7.5%); contact dermatitis, three (5.7%); wound infection, two (3.8%); and epidermolysis, one (1.9%), albeit with mild severity. Following Lady Care® application, no abnormal scarring and mild hypertrophic scarring was observed in 32 (64.0%) and 18 (36.0%) patients respectively. Of seven patients with pre-existing hypertrophic scars, only two showed hypertrophic scarring after Lady Care® application. Our findings support the safety and prophylactic efficacy of Lady Care®.Impact StatementWhat is already known on this subject? The incidence of abnormal scarring, i.e. keloid or hypertrophic scar formation after caesarean section (CS) is reported to be ∼41%. Abnormal or excessive scar formation can lead to functional limitations, pruritus, pain and cosmetic issues. Studies have also shown a prophylactic effect of the application of silicone materials against the development of hypertrophic and keloid scars, though prohibitive cost and lack of adhesiveness of such gel sheets are known factors limiting their usage.What the results of this study add? The new silicone gel sheet 'Lady Care®' has strong adhesive properties and is consequently not easily peeled off. Furthermore, it is easy to use and economically efficient.What the implications are of these findings for clinical practice and/or further research? This is the first clinical trial on the application of Lady Care® silicone gel sheet for the prevention of CS scarring. Our findings support the safety and prophylactic efficacy of Lady Care®.

Short- and long-term outcomes of laparoscopic versus open gastrectomy for locally advanced gastric cancer following neoadjuvant chemotherapy.

BACKGROUND: This study aimed to investigate the short- and long-term outcomes of laparoscopic gastrectomy (LG) in patients with advanced gastric cancer following neoadjuvant chemotherapy (NAC) to determine its safety and feasibility. METHODS: We retrospectively investigated 51 patients who underwent gastrectomy for locally advanced gastric cancer [cT3-4/N1-3 or macroscopic type 3 (> 80 mm) or type 4] following NAC between November 2009 and January 2018. After excluding two patients who underwent palliative surgery due to peritoneal dissemination, 49 patients were ultimately selected for this cohort study. The patients were then divided into the LG group and open gastrectomy (OG) group, after which the clinicopathological characteristics as well as short- and long-term outcomes were examined. RESULTS: Compared with the OG group, the LG group demonstrated a significantly lower amount of intraoperative blood loss and a shorter hospital stay. The overall complication rates were 10% (2 of 20 patients) and 24% (7 of 29 patients) in the LG and OG groups (P = 0.277), respectively. No significant differences in 5-year disease-free (LG 44.4% vs. OG 53.3%; P = 0.382) or overall survival rates (LG 46.9% vs. OG 54.0%; P = 0.422) were observed between the groups. Multivariate analysis revealed that the surgical procedure (LG vs. OG) was not an independent risk factor for disease-free (P = 0.645) or overall survival (P = 0.489). CONCLUSIONS: LG may be a potential therapeutic option for patients with gastric cancer following NAC considering its high success rates and acceptable short- and long-term outcomes.

Risk Factors Associated with the Development of Metastases in Patients with Gastroenteropancreatic Neuroendocrine Tumors: A Retrospective Analysis.

Neuroendocrine tumors develop from systemic endocrine and nerve cells, and their occurrence has increased recently. Since these tumors are heterogeneous, pathological classification has been based on the affected organ. In 2019, the World Health Organization introduced a change expected to influence neuroendocrine tumor research, as gastroenteropancreatic neuroendocrine tumors are now included within a unified classification. This retrospective study aimed to investigate the characteristics (e.g., lymph node metastases and all other metastases) of gastroenteropancreatic neuroendocrine tumors using this new classification in 50 cases. Tumor size, depth, MIB-1 index, lymphatic invasion, venous invasion, and neuroendocrine tumor grade were significantly correlated with lymph node metastasis and other metastases. The venous invasion was more strongly correlated with lymph node metastasis and all other types of metastases than with lymphatic invasion. Identification rates for lymphatic invasion were considered lower because of structural problems such as lymphatic vessels being much thinner than veins. However, venous invasion was considered effective in compensating for the low identification rate in cases of lymphatic invasion. In future research, a unified classification and standardized framework for assessment will be important when analyzing the characteristics of neuroendocrine tumors, and large-scale studies are required.

Gastric mixed adenoma-neuroendocrine tumor: A case report.

BACKGROUND: Gastric mixed adenoma-neuroendocrine tumors (NETs) are quite rare. In the 2019 world health organization classification of tumors of the digestive system, these were designated as a combination of grade 1 or grade 2 NETs and adenomas or tubular adenomas. There are no treatment guidelines for these tumors, and pathological and clinical studies are ongoing. Herein, we review previous case reports and present a case of gastric mixed adenoma-NET. CASE SUMMARY: A 66-year-old man underwent gastrointestinal endoscopy for the evaluation of upper abdominal pain. Histopathological examination of the biopsy specimen indicated the possibility of gastric cancer. A histopathological examination by endoscopic submucosal dissection showed a mixed adenoma-NET that was completely excised by endoscopic submucosal dissection. No recurrence was observed on gastrointestinal endoscopy at the 6-mo follow-up. CONCLUSION: Clinicians' awareness of this rare tumor is important for its timely diagnosis and treatment.

Significance of Primary Malignant Tumors on the Outcome of Patients With Resected Gastrointestinal Stromal Tumors.

AIM: This study aimed to clarify the significance of primary malignant tumors for the outcome of resected gastrointestinal stromal tumors (GISTs). PATIENTS AND METHODS: The medical history, pathological findings and prognosis of 66 patients with GISTs resected at our institute between January 2003 and December 2018 were investigated retrospectively and compared statistically. RESULTS: Among 66 patients with GISTs, 24 (36%) had concomitant malignant tumors. In an average study period of 57 months, one patient died from GIST, seven from other malignant tumors, and one from another disease. Only coexistence of GIST and other malignant tumors was recognized as a prognostic factor. Increasing age was significantly correlated with other malignant tumor in combination with GIST. When comparing patients with GIST alone and GIST with other malignant tumors, the latter showed significantly poorer prognosis. CONCLUSION: Coexistence of other malignant tumors was commonly observed in patients with GIST, and was associated with poorer prognosis. This association should be carefully considered and monitored in patients with GISTs.

Direct Assessment of Single-Cell DNA Using Crudely Purified Live Cells: A Proof of Concept for Noninvasive Prenatal Definitive Diagnosis.

Noninvasive testing techniques are often used for fetal diagnosis of genetic abnormalities but are limited by certain characteristics, including noninformative results. Thus, novel methods of noninvasive definitive diagnosis of fetal genetic abnormalities are needed. The aim of this study was to develop a single-cell DNA analysis method with high sensitivity and specificity that enables direct extraction of genetic information from live fetal cells in a crude mixture for simultaneous evaluation. Genomic DNA from circulating fetal CD45-CD14- cells, an extremely rare cell type, extracted from 10-mL samples of maternal peripheral blood, was extracted using a single-cell-based droplet digital (sc-dd) PCR system with a modified amount of polymerase. A hexachloro-6-carboxyfluorescein-labeled RPP30 probe was used as an internal control and a 6-carboxyfluorescein-labeled SRY probe as a target. The results indicated that no droplets generated with samples from pregnant women carrying female fetuses were positive for both probe signals, whereas droplets prepared with samples from pregnant women carrying male fetuses were positive for both probe signals. The latter was considered a direct assessment of genetic information from single circulating male fetal cells. Thus, the modified sc-ddPCR system allows the detection of genetic information from rare target cells in a crudely purified cell population. This research also serves as a proof of concept for noninvasive prenatal definitive diagnosis.

Ruptured visceral artery aneurysms in a patient of neurofibromatosis type 1 (NF-1) successfully treated by endovascular treatment.

BACKGROUND: Neurofibromatosis type 1 (NF-1) is an autosomal dominant disease and arteriovenous abnormalities are a well-recognized complication. There are several case reports of ruptured aneurysms; however, among them, reports of superior pancreaticoduodenal artery (PDA) and superior mesenteric artery (SMA) aneurysms are rare. We experienced the case of ruptured PDA and SMA aneurysms in a patient of neurofibromatosis type I successfully treated by endovascular treatment. CASE PRESENTATION: A 55-year-old woman with NF-1 came to our hospital with abdominal pain and vomiting. Enhanced abdominal computed tomography revealed a hematoma in the retroperitoneum and an aneurysm in the head of the pancreas. Angiography was performed, and a ruptured aneurysm was suspected the periphery of the PDA, and we embolized it using coils. However, on postoperative day 2, the hemoglobin level decreased, and a branch of the SMA was ruptured. She underwent embolization using coils again and discharged on postoperative day 27 without any further hemorrhage. CONCLUSIONS: To our knowledge, this is the first successfully treated case of ruptured SMA and PDA aneurysms in a patient with NF-1.

Sphingosine-1-Phosphate Facilitates Skin Wound Healing by Increasing Angiogenesis and Inflammatory Cell Recruitment with Less Scar Formation.

Wound healing starts with the recruitment of inflammatory cells that secrete wound-related factors. This step is followed by fibroblast activation and tissue construction. Sphingosine-1-phosphate (S1P) is a lipid mediator that promotes angiogenesis, cell proliferation, and attracts immune cells. We investigated the roles of S1P in skin wound healing by altering the expression of its biogenic enzyme, sphingosine kinase-1 (SphK1). The murine excisional wound splinting model was used. Sphingosine kinase-1 (SphK1) was highly expressed in murine wounds and that SphK1-/- mice exhibit delayed wound closure along with less angiogenesis and inflammatory cell recruitment. Nanoparticle-mediated topical SphK1 overexpression accelerated wound closure, which associated with increased angiogenesis, inflammatory cell recruitment, and various wound-related factors. The SphK1 overexpression also led to less scarring, and the interaction between transforming growth factor (TGF)-ß1 and S1P receptor-2 (S1PR2) signaling is likely to play a key role. In summary, SphK1 play important roles to strengthen immunity, and contributes early wound healing with suppressed scarring. S1P can be a novel therapeutic molecule with anti-scarring effect in surgical, trauma, and chronic wound management.

Schwannoma of the Small Intestine.

Schwannomas of the gastrointestinal tract are rare. Herein, we report a case of schwannoma originating from the small intestine. A 78-year-old woman underwent medical follow-up after surgery for bladder cancer, and a mass in the upper part of the pelvis was revealed by abdominal CT. With the diagnosis of a submucosal tumor of the small intestine, she underwent partial intestinal resection. The submucosal tumor was pathologically composed of S100-positive spindle cells and diagnosed as schwannoma. We report this case of rare schwannoma of the small intestine and review the literature.

Sarcopenia is a poor prognostic factor of castration-resistant prostate cancer treated with docetaxel therapy.

BACKGROUND: Sarcopenia is a geriatric syndrome that is characterized by the gradual muscle loss and frailty in the elderly. Meanwhile, the prevalence of prostate cancer is on the rise worldwide. Mainstay treatments for metastatic prostate cancer are androgen-deprivation therapy and taxane-based chemotherapy. Owing to the indolent nature of prostate cancer, these treatments tend to be long-lasting, giving rise to the problem of tolerance to the treatments. Especially given the fact that long-term chemotherapy is closely associated with muscle loss, we aimed to elucidate the correlation between chemotherapy and sarcopenia in the clinical setting. MATERIALS AND METHODS: This study was a retrospective study. Participants with castration-resistant prostate cancer were recruited from November 2009 to September 2015.Participants were recruited at two hospitals, Juntendo and Teikyo University Hospital, Tokyo, Japan.Participants were 77 Japanese males with castration-resistant prostate cancer who underwent docetaxel chemotherapy.Sarcopenia was defined as L3-psoas muscle index < 5.7 cm2/m2. We statistically investigated whether the existence of sarcopenia has an impact on the survival time, and identified potential covariates that affect it. RESULTS: Out of 77 patients, 26 patients (34%) were diagnosed as sarcopenia. Analysis showed that sarcopenia is independently associated with mortality risk (hazards ratio = 2.74, P = 0.0055). Sarcopenic patients showed significant decrease in body mass index, pretreatment hemoglobin, C-related protein, and L3-psoas muscle index as compared with nonsarcopenic patients. The median observation period was 499 days (330-790). Thirty-five patients (45%) died of prostate cancer during that period. Sarcopenic patients showed significantly shorter survival time after the initiation of docetaxel treatments (P = 0.0055). CONCLUSION: Sarcopenia is an independent predictive factor for a poor tolerance to docetaxel treatment. Given that cessation of the treatment leads to death from the disease, our study identified sarcopenia as an independent factor that raises mortality risk.

Molecular genetic analysis reveals atypical confined placental mosaicism with a small supernumerary marker chromosome derived from chromosome 18: A clinical report of discordant results from three prenatal tests.

We present a case with discordant results in three prenatal screening methods, with additional genetic analyses. Non-invasive prenatal testing (NIPT) was performed on a 41-year-old Japanese woman at 10 weeks of gestation, and the result was positive for trisomy 18 with high accuracy. Amniocentesis was performed at 16 weeks of gestation. However, the result showed 47,XX,+mar[16]/47,XX,+18[2]. Fetal examination by ultrasound revealed no malformations. After termination of the pregnancy, we performed additional genetic analyses, and confirmed the presence of confined placental mosaicism (CPM). Furthermore, a small supernumerary marker chromosome (sSMC) was detected in fetal cells, which was derived de novo from the centromere of chromosome 18. Single nucleotide polymorphism array analysis revealed that fetal chromosome 18 was inherited with maternal uniparental disomy, with a relatively large copy-neutral loss of heterozygosity, including its centromere. Our genetic analyses strongly indicated the cause of result discrepancy in prenatal testing as incomplete trisomy 18 rescue leading to atypical CPM with a sSMC. These findings also offer insight into the mechanisms by which chromosomal aberrations form during human oogenesis and embryogenesis.