Search

Objective The amniotic fluid (AF) contains cell-free RNAs (cfRNAs), which are considered to reflect the fetal status in utero . However, there are limited numbers of data to examine the AF cell-free transcriptome because amniocentesis is an invasive procedure. In this study, the AF transcriptome expressed during the euploid mid-trimester of pregnancy was characterized. Study design Fourteen AF samples were collected. RNA was extracted from AF supernatant, hybridized to Affymetrix GeneChip Human arrays, and the transcriptome was analyzed by using the DAVID toolkit. Result We detected 1069 genes in the 14 AF samples. The GNF atlas mapping showed that genes present in the AF were annotated with endocrine organs and blood components, including the pancreas, adrenal gland, thyroid, ovary and monocytes. The proteins encoded by the transcriptome were localized to several organs, which are directly in contact with the AF, including the placenta, lung, skin, epithelium, and kidney. During the early fetal period, there is a bi-directional diffusion between the fetus and AF. Therefore, the AF composition is similar to that of the fetal plasma. In addition, fetal urine, swallowing, pulmonary secretion, and diffusion across the placenta contribute to produce amniotic fluid by directly excreting fluid. The KEGG pathway analysis with placenta specific genes revealed that focal adhesion and extracellular matrix receptor interaction pathways were enriched. These pathways are important for the placental development. Conclusion cfRNA in the amniotic fluid originates from placenta and fetal organs directly contacting the amniotic fluid as well as from diffusion of the fetal plasma across the placenta. AF transcriptome may reflect not only fetal development, but also placental development.

Introduction: Rapid assessment of collateral status is an important issue for therapeutic decision making in acute ischemic stroke(AIS), because collaterals may affect revascularization, ischemic severity and clinical outcomes. CT angiography(CTA) is non-invasive and more feasible as a fast diagnostic tool than conventional angiography, therefore it was commonly used as the initial evaluation tool in AIS. Hypothesis: To examine correlation between collateral status observed by CTA and clinical outcomes in patients with acute ICA occlusion. Methods: The patients with ICA occlusion who underwent CTA within 6h of symptom onset were collected retrospectively. We assessed collateral status using CTA and evaluate correlation between collateral grades and clinical outcome. Collateral grades were classified as grade 1-4(Figure1). Clinical outcome was measured by major neurologic improvement(MNI) and good functional outcome. MNI was defined by a ≥8 point improvement in NIH Stroke Scale and good functional outcome was defined as modified Rankin scale at 90 days of 0 to 2. Results: A total of 50 patients were included in this study. In analysis of CTA collateral, 13 patients were classified as grade1, 8 patients as grade2, 9 patients as grade3, and 20 patients as grade4, respectively. In grade 1 patients, there were no patients who showed MNI or good outcome. In contrast, among grade 4 patients, 3 patients(15%) showed MNI and 10 patients(50%) had good functional outcome. Especially, patients in group 4 with successful recanalization demonstrated favorable outcome (2 of 10 MNI, 8 of 10 good functional outcome). In grade2 and 3 patients, the proportion of MNI and good functional outcome was between that of grade1 and 4 patients (grade2: no MNI, good functional outcome 2 of 12, grade 3: MNI 2 of 9, good functional outcome 1 of 9). Conclusions: Collateral flow status assessed by CTA can predict clinical outcomes in AIS, and further studies are needed to verify this correlation.

While genetic origin of Dandy–Walker complex has not yet fully elucidated, the complex has been known to be associated with structural and chromosomal abnormalities. A partial trisomy 3q was also identified in patients with DWC. 3q duplication syndrome is defined as duplications of large parts of 3q, especially 3q21-qter. Most cases with 3q duplication are diagnosed postnatally and the patients show typical features including various facial dysmorphisms, congenital heart defects, genitourinary malformations, and mental and growth retardation. Here we report a 28 year old nulliparous woman who was referred from the infertility clinic at 21 gestational weeks. Fetal ultrasonographic examination showed various abnormal findings including a ventricular septal defect, hydrocephalus, and hypoplasia of the cerebellar vermis. Fetal chromosome analysis was initially reported as 46,XY,der(14)(?::p11.2 → qter). Array CGH followed by FISH allowed precise characterization of the der(14) chromosome and the initial karyotype of the fetus had been changed to 46,XY,add(14)(p11).ish der(14)t(3;14)(q26.1;p11)(tel3q +).arr 3q26.1q29(166249469–199288361)x3. Though further studies are required, gene clusters rather than a single gene might be responsible for the clinical features of the Dandy–Walker complex.

Objective: To discuss a case of heterotopic cornual and tubal pregnancy managed with transvaginal potassium chloride (KCl) injection of cornual pregnancy and laparoscopic operation of tubal pregnancy. Methods: The subject was a 30-year-old woman with twin pregnancy with a left cornual and a tubal pregnancy. The heterotopic cornual pregnancy was treated with ultrasonographically-guided transvaginal injection of KCl into the thorax of ectopic fetus, and the tubal pregnancy was treated with laparoscopic left salpingectomy. Results: The woman was discharged on the 6th postoperative day. After complete ablation of the cornual and tubal pregnancy, the subject had no complications or side effects for the duration of her pregnancy up to the 37th week. Elective cesarean section was performed at 37 weeks and allowed the birth of 2 boys weighing 2,500 and 2,000 g and of normal development. Conclusions: A minimally invasive approach should be considered in a hemodynamically stable patient to treat a first-trimester heterotopic pregnancy to maintain the intrauterine pregnancy with a satisfactory outcome.

한 개체에서 중복홀배수체 염색체 이상의 발생은 상대적으로 매우 드문 형태로 그 발생률은 문헌에 따라 다양하다. 본 사례는 클라인펠터 성염색체 이상과 여기에 보통염색체 21번이 추가된 중복 홀배수체가 진단된 경우이다. 산전검사를 위해 임신 1분기에 시행한 초음파 검사에서 태아 목덜미투명대가 3.8 mm로 증가되었으며 이에 염색체검사를 위해 융모막융모생검을 시행하였다. 그 결과 48, XXY, +21인 중복홀배수체로 진단되었으며 태아는 임신 13주에 자연유산 되었다. 이에 본 저자들은 다운-클라인펠터 중복홀배수체 염색체 이상을 문헌고찰과 함께 보고하고자 한다.

Acardiac twin is a rare anomaly that occurs 1% in monochorionic twins and 1 in 35,000 pregnancies overall. Acardiac twin, also known as twin-reversed arterial perfusion (TRAP) sequence, involves a “pump” or donor twin perfusing a recipient or “acardiac” twin through vascular (usually arterial–arterial and venous–venous) anastomoses. Perinatal mortality rate for the pump twin has been reported to be 50~75%, mainly as a result of polyhydramnios, preterm labor, and congestive heart failure. Therefore, occlusion of the circulation to the acardiac twin has been recommended to improve perinatal outcome of the pump twin. Radiofrequency ablation of the acardiac twin effectively protects the pump twin from high-output cardiac failure and death. We report our experience in the treatment of patients with TRAP sequence using radio frequency ablation to stop perfusion to the acardiac twin.