Antenatal diagnosis and management of fetal inguinoscrotal hernia: A case report with literature review.

Primary inguinal hernia is a common pediatric surgical condition with an incidence of 1%-4%, which is higher in male or premature newborns. It is characterized by the protrusion of abdominal contents through inguinal canal in newborns. However, prenatal fetal inguinal hernia is a rare condition because the pressure of amniotic fluid is similar to intra-abdominal pressure. Only 19 English publications were found with 21 reported cases until now. We report belatedly discovered inguinoscrotal hernia at 38+0 weeks' gestation. Usually, the fetal testicular descent begins from 24 to 25 weeks' gestation, and it is found after 32 weeks of gestational age in 97% of the fetuses. Therefore, it is necessary to get into the habit of checking fetal testicles during routine US after at least 32 weeks of gestational age.

External cephalic version in the outpatient clinic.

The continuous increase in the rates of cesarean section worldwide is concerning. Breech presentation is one of the major indications for cesarean section in most countries. External cephalic version (ECV) can reduce cesarean rates by approximately two-thirds in term breech pregnancies. After introduction of ultrasonography and cardiotocography before and after the procedure, ECV has become much safer. As a result, over-night fasting, intravenous access, and preoperative laboratory tests are no longer recommended as the patient's risk of requiring emergency cesarean section is very low. We have been running the largest ECV clinic in South Korea since 2008, and ECV trials in the outpatient clinic were started in 2015. We want to share our experiences running the ECV clinic for 15 years managing more than 2000 patients.

A Huge Hemorrhagic Epidermoid Cyst of the Perineum with Hypoechoic Semisolid Ultrasonographic Feature Mimicking Scar Endometriosis.

Epidermoid cysts are small, solitary, and slow-growing lesions that rarely appear in the perineum and mostly arise because of trauma. This study examined a huge perineal epidermoid cyst that slowly grew over eight years in a premenopausal woman. Ultrasonography showed that the hemorrhage in the cyst was a semisolid hypoechoic mass, which mimicked endometrioma, and was tentatively diagnosed as scar endometriosis in the perineum after vaginal delivery. This case study highlights the importance of wide surgical excision and histopathologic diagnosis, even with typical ultrasonography and surgical findings.

Heritability of telomere length across three generations of Korean families.

BACKGROUND: Leukocyte telomere length (LTL), an indicator of aging, is influenced by both genetic and environmental factors; however, its heritability is unknown. We determined heritability and inheritance patterns of telomere length across three generations of families. METHODS: We analyzed 287 individuals from three generations of 41 Korean families, including newborns, parents, and grandparents. LTL (the ratio of telomere repeat copy number to single gene copy number) was measured by quantitative real-time PCR. We estimated heritability using the SOLAR software maximum-likelihood variance component methods and a pedigree dataset. With adjustment for age and length of marriage, Pearson's partial correlation was performed for spousal pairs. RESULTS: Heritability of LTL was high in all participants (h2 = 0.64). There were no significant differences in correlation coefficients of telomere length between paternal and maternal lines. There was a positive LTL correlation in grandfather-grandmother pairs (r = 0.25, p = 0.03) but not in father-mother pairs. After adjusting for age and length of marriage, the relationship between telomere lengths in grandfathers and grandmothers disappeared. There were inverse correlations between spousal rank differences of telomere length and length of marriage. CONCLUSIONS: LTL is highly heritable without a sex-specific inheritance pattern and may be influenced by a shared environment.

Interference-Aware Routing for Difficult Wireless Sensor Network Environment with SWIPT.

The main challenges of sensing in harsh industrial and biological environments are the limited energy of sensor nodes and the difficulty of charging sensor nodes. Simultaneous wireless information and power transfer (SWIPT) is a non-invasive option to replenish energy. SWIPT harvests energy and decodes information from the same RF signal, which is influencing the design of a wireless sensor network. In multi-hop multi-flow wireless sensor networks, interference generally exists, and the interference has a different influence on SWIPT. Route, interference and SWIPT are dependent. However, existing works consider SWIPT link resource allocation with a given route or only select path for one flow without interference. Therefore, this paper firstly analyzes the influence of interference on SWIPT, and select the SWIPT routing with interference. We design an interference-based information and energy allocation model to maximize the link capacity with SWIPT. Then, we design an interference-aware route metric, formulate SWIPT routing problem, and design an interference-aware SWIPT routing algorithm. The simulation results show that as the number of flows increases, there is more likely to obtain performance gains from interference and SWIPT.

Higher maternal vitamin D concentrations are associated with longer leukocyte telomeres in newborns.

Gestational vitamin D insufficiency is related with increased risks of various diseases and poor health outcomes later in life. Telomere length at birth or early in life is known to be a predictor of individual health. Both vitamin D and telomere length are related with various health conditions, and vitamin D concentrations are associated with leukocyte telomere lengths in women. We investigated the association between maternal vitamin D concentrations and newborn leukocyte telomere lengths. This cross-sectional study included 106 healthy pregnant women without adverse obstetric outcomes and their offspring. We examined the maternal age, weight before pregnancy, health behaviours, and nutritional intakes, along with each newborn's sex and birthweight, and we measured maternal height, telomere length, total white blood cell count, and glycosylated haemoglobin as covariates. Pearson's correlation coefficients were calculated to evaluate the relationship between the baseline variables and newborn leukocyte telomere lengths. To confirm that there was an independent association between newborn leukocyte telomere lengths and maternal vitamin D concentrations, we performed a stepwise multiple linear regression analysis. Newborn leukocyte telomere lengths correlated positively with maternal leukocyte telomere lengths (r = .76, p < .01), maternal 25-hydroxyvitamin D concentrations (r = .72, p < .01), maternal energy intakes (r = .22, p = .03), and newborn body weights (r = .51, p < .01). In the multivariate model, newborn leukocyte telomere lengths were associated with maternal vitamin D concentrations (ß = .33, p < .01). These findings suggest that the maternal vitamin D concentration during pregnancy may be a significant determinant of the offspring's telomere length.

Primary cervical choriocarcinoma during viable intrauterine pregnancy.

A 31-year-old multigravida woman at 27 weeks' gestation was admitted with vaginal bleeding and a hypervascular mass near the cervix on ultrasonography. After discharge with improvement, she was readmitted the next day for uncontrolled, heavy vaginal bleeding and underwent emergency cesarean section at 29 weeks' gestation. A 3-cm friable mass found near the cervix was removed surgically; this lesion was shown to be primary cervical choriocarcinoma. On the 17th postoperative day the patient underwent total abdominal hysterectomy with preservation of both ovaries and biopsy was performed on the right ovary. The International Federation of Gynecology and Obstetrics (FIGO) stage was I and her World Health Organization prognostic score was 9, representing high risk. The patient received three rounds of chemotherapy until achieving three consecutive normal human chorionic gonadotropin levels with two additional courses to address risk of relapse. DNA genotyping on short tandem repeat polymorphism confirmed the gestational choriocarcinoma.

Improving Prenatal Diagnosis Precision for Congenital Clubfoot by Using Three-Dimensional Ultrasonography.

Prenatal diagnosis of clubfoot traditionally relied on two-dimensional ultrasonography. To enhance diagnosis and predict postnatal outcomes, we examined the parameters that differentiate pathological clubfoot using three-dimensional ultrasonography. In our retrospective study, we examined the findings of prenatal ultrasound and the postnatal outcomes of pregnancies with suspected congenital clubfoot between 2018 and 2021. Based on the three-dimensional perspective, we measured the angles of varus, equinus, calcaneopedal block, and forefoot adduction and compared the sonographic variables between the postnatal treated and non-treated groups. We evaluated 31 pregnancies (47 feet) with suspected clubfoot using three-dimensional ultrasonography. After delivery, a total of 37 feet (78.7%) underwent treatment involving serial casting only or additional Achilles tenotomy. The treated group showed significantly greater hindfoot varus deviation (60.5° vs. 46.6°, p = 0.026) and calcaneopedal block deviation (65.6° vs. 26.6°, p < 0.05) compared to the non-treated group. The calcaneopedal block had an area under the curve of 0.98 with a diagnostic threshold of 46.2 degrees (sensitivity of 97%, specificity of 90%, positive predictive value of 97%, and negative predictive value of 90%). During prenatal evaluation of clubfoot using three-dimensional ultrasonography, the calcaneopedal block deviation has the potential to predict postnatal treatment.

Prenatal screening for neural tube defects: from maternal serum alpha-fetoprotein to ultrasonography.

The two main screening tests during pregnancy are those for chromosomal abnormalities and neural tube defects (NTDs). In particular, for NTDs, measurement of maternal serum alpha-fetoprotein (MSAFP) levels early in the second trimester (15-18 weeks of gestation) has been considered the gold standard screening test for the past 4 decades. However, with remarkable technological advancements and the widespread use of ultrasound during those periods, mid-trimester ultrasonography has gradually replaced the role of measuring MSAFP levels as a screening method for NTDs. This change was initiated more about 10 years ago in some countries, which have issued national guidelines to use mid-trimester ultrasonography instead of measuring MSAFP levels as a prenatal screening method for NTDs. However, no significant changes have occurred in Korea, where second-trimester ultrasonography is routinely performed with high-quality equipment. We aimed to provide information regarding the importance of changing the screening method for NTDs from MSAFP measurement to ultrasonography, and to detail methods of implementing mid-trimester ultrasonography for screening purposes. We also share our experience of operating a prenatal diagnostic program for NTDs without using MSAFP for more than 15 years.

Rapidly grown congenital fetal immature gastric teratoma causing severe neonatal respiratory distress.

A pregnant woman in the mid-third trimester developed complications with enlarged fetal abdomen and polyhydramnios. Prenatal ultrasound visualized dilated bowel, intraperitoneal calcifications, ascites, hydroceles and polyhydramnios, giving the impression of meconium peritonitis. The fetal abdomen continued to increased in size, and maternal dyspnea due to polyhydramnios was aggravated. She underwent a cesarean section at 36 + 1 weeks' gestation. The delivery was followed by severe neonatal respiratory distress due to the huge mass in the abdomen. The tumor was successfully removed by emergency surgery and diagnosed as immature gastric teratoma. No other associated anomaly was found. The infant made a good progress after the operation.

Underuse of ovarian transposition in reproductive-aged cancer patients treated by primary or adjuvant pelvic irradiation.

AIM: To investigate the application status of ovarian transposition (OT) in reproductive-aged cancer patients undergoing radiation therapy. MATERIAL & METHODS: Between November 1999 and December 2008, 2524 patients had received pelvic irradiation at Seoul National University Hospital. We filtered the patients with the indications of (i) within 12 to 40 years of age, and (ii) receiving primary or adjuvant pelvic irradiation. There were 241 patients within 12 to 40 years of age. After excluding 133 patients with metastatic disease or under palliative radiation treatment, 108 patients were discovered appropriate for OT. We analyzed the application status of OT, surgical types of OT, cancer types and radiation types in those 108 patients. RESULTS: Cervical cancer was the major indication (n = 68, 62.9%). Another 37.1% of indicated disease were composed of rectal cancer (n = 19), vulvo-vaginal cancer (n = 4), non-Hodgkin's lymphoma (n = 3), and other pelvic tumors (n = 14). Among the 108 patients, only 31 (28.7%) patients had received OT before pelvic irradiation. Most of the operations were applied on cervical cancer patients (n = 29) and only two procedures on rectal and endometrial cancer, respectively. OT had been mostly performed during laparotomy. Laparoscopic procedure was applied in only one case with advanced cervical cancer. CONCLUSIONS: Although OT could be a preventive measure of premature ovarian failure from radiation therapy, this procedure has been considerably underused at our institution. This procedure should be applied more widely to preserve the fertility and improve the quality of life in reproductive-aged cancer patients.

A giant symptomatic placental chorioangioma managed with a histoacryl injection.

Chorioangiomas are generally small and associated with favorable outcomes, but large tumors can cause serious fetal complications, such as polyhydramnios, fetal anemia, intrauterine growth restriction, cardiac failure, fetal hydrops, and intrauterine fetal death. Signs of fetal cardiac failure on ultrasonography are indications for urgent in utero interventions. We report a case of a giant chorioangioma causing fetal cardiac failure at 26+3 weeks' gestation, which was treated by embolization of the feeding vessels. We utilized a mixture of n-butyl cyanoacrylate (nBCA, Histoacryl®) and iodized oil (Lipiodol®) as an embolic agent. Fetal hydrops resolved in 4 weeks, and the cardiac size and function normalized 8 weeks after the embolization. A healthy male baby was born at the 37+5th gestational week by cesarean section.

Omental Incarceration over Twenty Years Presenting as a Hyperechoic Endometrial Mass in a Postmenopausal Woman.

Uterine perforation related with dilatation and curettage (D&C) is an uncommon event. Combined complications such as hemorrhage, adjacent organ injury, and omental incarceration may require an emergent surgical treatment. These are usually evident immediately or several days after the D&C, and a delayed presentation of uterine perforation are extremely rare. Herein, we report a rare case of omental incarceration presenting as a hyperechoic endometrial mass in a postmenopausal woman, diagnosed twenty-three years after the D&C. According to this case, when we encounter a hyperechoic endometrial lesion penetrating the uterine wall in women with a history of an intrauterine procedure such as D&C, we need to consider the possibility of an incarcerated omentum.

Efficacy of fetal cardiac axis evaluation in the first trimester as a screening tool for congenital heart defect or aneuploidy.

OBJECTIVE: To prove the efficacy of determining the abnormal fetal cardiac axis for screening congenital heart defects (CHDs) and predicting fetal aneuploidy at 11.0 to 13.6 weeks of pregnancy. METHODS: This retrospective study was performed at a single high-risk pregnancy center. The fetal cardiac axis was evaluated between 11.0 and 13.6 weeks of gestation in 142 fetuses. The cardiac axis in a 4-chamber view was measured as the angle between the line tracing the long axis of the heart and the line bisecting the thorax in the anteroposterior direction. A CHD was confirmed based on the second- to third-trimester fetal status or postnatal imaging. Aneuploidy was diagnosed using chorionic villus sampling, amniocentesis, or genetic testing after birth. Fisher's exact test was performed to assess the association between the fetal cardiac axis and the abnormal fetal status. A 2-way contingence table analysis was performed to confirm the efficacy of the fetal cardiac axis as a screening tool. RESULTS: Among the 142 fetuses, 10 had a CHD while 17 had aneuploidy. The abnormal fetal cardiac axis was significantly associated with CHDs (P=0.013) and aneuploidy (P=0.010). None of the fetuses with CHDs or aneuploidy had an isolated abnormal cardiac axis alone without other sonographic findings. The sensitivity of the fetal cardiac axis was 50.0% for CHDs and 41.2% for aneuploidy. CONCLUSION: The fetal cardiac axis can be an additional helpful tool for prenatal screening of CHDs and aneuploidy in the first trimester.

Generation of human androgenetic induced pluripotent stem cells.

In humans, parthenogenesis and androgenesis occur naturally in mature cystic ovarian teratomas and androgenetic complete hydatidiform moles (CHM), respectively. Our previous study has reported human parthenogenetic induced pluripotent stem cells from ovarian teratoma-derived fibroblasts and screening of imprinted genes using genome-wide DNA methylation analysis. However, due to the lack of the counterparts of uniparental cells, identification of new imprinted differentially methylated regions has been limited. CHM are inherited from only the paternal genome. In this study, we generated human androgenetic induced pluripotent stem cells (AgHiPSCs) from primary androgenetic fibroblasts derived from CHM. To investigate the pluripotency state of AgHiPSCs, we analyzed their cellular and molecular characteristics. We tested the DNA methylation status of imprinted genes using bisulfite sequencing and demonstrated the androgenetic identity of AgHiPSCs. AgHiPSCs might be an attractive alternative source of human androgenetic embryonic stem cells. Furthermore, AgHiPSCs can be used in regenerative medicine, for analysis of genomic imprinting, to study imprinting-related development, and for disease modeling in humans.

Reviving external cephalic version: a review of its efficacy, safety, and technical aspects.

Currently, the rate of cesarean sections being performed in Korea is approximately 40%, with Korea ranking 4th among the Organization for Economic Co-operation and Development countries with respect to cesarean deliveries. Breech presentation at term is an important indication for cesarean section among other factors, including medicolegal concerns and pregnancies in women of advanced maternal age. Term breech presentation is associated with a higher fetal mortality rate than that associated with a cephalic presentation. Therefore, in Korea, most of these women deliver by cesarean section to avoid the complications of vaginal breech delivery. However, cesarean section is itself associated with considerable obstetric morbidity and sometimes, mortality. External cephalic version (ECV) is a useful method to reduce the cesarean section rate in women with breech presentation and therefore to reduce the incidence of breech presentation at delivery. Studies have shown that routine use of ECV reduces the cesarean section rate by approximately two-thirds in term pregnancies with breech presentation. ECV is accepted as a safe, efficacious, and cost-effective method and is recommended by both the American College of Obstetricians and Gynecologists and the Royal College of Obstetricians and Gynecologists in all pregnancies with term breech presentation, if not contraindicated. In Korea, although most clinicians are aware of the option of ECV, their relative lack of experience in performing the procedure and fear of complications render them hesitant to perform ECV. This review is aimed at guiding obstetricians by describing the efficacy, safety concerns, and technical aspects of this procedure.

Alteration of Genomic Imprinting Status of Human Parthenogenetic Induced Pluripotent Stem Cells during Neural Lineage Differentiation.

BACKGROUND AND OBJECTIVES: Genomic imprinting modulates growth and development in mammals and is associated with genetic disorders. Although uniparental embryonic stem cells have been used to study genomic imprinting, there is an ethical issue associated with the destruction of human embryos. In this study, to investigate the genomic imprinting status in human neurodevelopment, we used human uniparental induced pluripotent stem cells (iPSCs) that possessed only maternal alleles and differentiated into neural cell lineages. METHODS: Human somatic iPSCs (hSiPSCs) and human parthenogenetic iPSCs (hPgiPSCs) were differentiated into neural stem cells (NSCs) and named hSi-NSCs and hPgi-NSCs respectively. DNA methylation and gene expression of imprinted genes related neurodevelopment was analyzed during reprogramming and neural lineage differentiation. RESULTS: The DNA methylation and expression of imprinted genes were altered or maintained after differentiation into NSCs. The imprinting status in NSCs were maintained after terminal differentiation into neurons and astrocytes. In contrast, gene expression was differentially presented in a cell type-specific manner. CONCLUSIONS: This study suggests that genomic imprinting should be determined in each neural cell type because the genomic imprinting status can differ in a cell type-specific manner. In addition, the in vitro model established in this study would be useful for verifying the epigenetic alteration of imprinted genes which can be differentially changed during neurodevelopment in human and for screening novel imprinted genes related to neurodevelopment. Moreover, the confirmed genomic imprinting status could be used to find out an abnormal genomic imprinting status of imprinted genes related with neurogenetic disorders according to uniparental genotypes.

Intrauterine midgut volvulus without malrotation: diagnosis from the 'coffee bean sign'.

Fetal midgut volvulus is quite rare, and most cases are associated with abnormalities of intestinal rotation or fixation. We report a case of midgut volvulus without malrotation, associated with a meconium pellet, during the gestation period. This 2.79 kg, 33-wk infant was born via a spontaneous vaginal delivery caused by preterm labor. Prenatal ultrasound showed dilated bowel loops with the appearance of a 'coffee bean sign'. This patient had an unusual presentation with a distended abdomen showing skin discoloration. An emergency laparotomy revealed a midgut volvulus and a twisted small bowel, caused by complicated meconium ileus. Such nonspecific prenatal radiological signs and a low index of suspicion of a volvulus during gestation might delay appropriate surgical management and result in ischemic necrosis of the bowel. Preterm labor, specific prenatal sonographic findings (for example, the coffee bean sign) and bluish discoloration of the abdominal wall could suggest intrauterine midgut volvulus requiring prompt surgical intervention.

Extra-adrenal paraganglioma masquerading as severe preeclampsia.

Paraganglioma in pregnancy is an extremely rare condition and its diagnosis is often delayed because the clinical symptoms can mimic those of preeclampsia or gestational hypertension. Here, we report the case of a 32-year-old, gravida 2, para 1 woman who presented with severe headache, palpitation, and sweating at 37 weeks' gestation. Although emergent cesarean section was performed on the assumption of severe preeclampsia, blood pressure fluctuated and heart rate remained tachycardiac. We suspected that she might have thromboembolic lesion in the chest or pheochromocytoma. Chest and abdominal computed tomography revealed a 4 cm mass in the left para-aortic space. Serum and urinary catecholamine levels were found to be significantly increased. She underwent laparoscopic mass removal and the pathology confirmed paraganglioma. When typical paroxysmal hypertension is accompanied by headache, palpitation, and sweating during pregnancy, adrenal tumors should be considered.