A case of amniotic band syndrome after fetal reduction by radiofrequency ablation / 中华围产医学杂志

This article reported a survived case of amniotic band syndrome (ABS) following fetal reduction by radiofrequency ablation. The woman conceived monochorionic diamniotic twin pregnancy spontaneously. Prenatal ultrasound at 24 weeks of gestation indicated twin-twin transfusion syndrome (stage Ⅲ), and radiofrequency ablation for fetal reduction was successfully performed after formal consent. At 28 +6 weeks, ultrasound reexamination revealed significant edema in the left foot of the fetus, with banding around the ankle, as well as the strangulation mark and narrowing rings. Fetal ABS (ⅡB stage) was diagnosed after multidisciplinary consultation. An immediate emergency cesarean section was performed and a live male baby was born. A thin amniotic band could be seen wrapping around the left ankle of the newborn for several rounds, with obvious strangulation marks about 1 cm deep into the skin, and significant edema on the dorsum and sole of the foot, and the submalleolus area. The amniotic band was released at once, and the edema faded gradually after surgery. After a follow-up of 28 days, the lower limbs of the newborn became normal.

Uncultured chorionic villus samples for fetal chromosome karyotype analysis: a retrospective analysis of 438 cases / 中华围产医学杂志

Objective:To understand the possible detected mosaicism chromosome karyotyping using uncultured chorionic villus samples.Methods:This study retrospectively analyzed the clinical data of singleton pregnant women who underwent fetal chromosome karyotyping of uncultured chorionic villus samples at the Prenatal Diagnosis Center of Tianjin Central Hospital of Gynecology and Obstetrics from January 2016 to January 2019. Prenatal diagnosis indicators, fetal karyotypes, the incidence of chromosomal mosaicism and subsequent diagnosis, and perinatal outcomes were analyzed. Amniocentesis was performed when chromosomal mosaicism was identified. Descriptive statistical analysis was used for data analysis.Results:(1) A total of 438 pregnant women with available follow-up data were enrolled. Increased nuchal translucency (56.6%, 248/438) was the major indication for prenatal diagnosis. The karyotype analysis indicated that 79.5% (348/438) were normal, and 2.7% (12/428) were mosaicism. (2) Of the 438 cases, 336 cases (76.7%) were delivered at term, of which 327 cases were uncomplicated. There was one case of premature rupture of membranes within one week after amniocentesis and eight cases of abortion/fetal death between one week after the amniocentesis and 28 weeks of gestation. Of these nine cases, four had chromosomal abnormalities, and five had normal karyotypes. Termination of pregnancy was selected in 65 cases (14.8%) and 28 cases (6.4%) delivered before term. (3) Among the 12 (2.7%) cases of chromosomal mosaicism verified by fetal karyotyping through amniocentesis, four were confined placental mosaicism; six were abnormal chromosomal karyotypes in chorionic villous and amniotic fluid; one was true fetal mosaicism; one was a false positive. Among the 12 cases, three continued to term, one was preterm delivered, and eight selected labor induction, including three cases each of trisomy-21 and ultrasonographic structure abnormalities, and one case each of fetal growth restriction and labor induction based on patient preference.Conclusions:Karyotype analysis of uncultured chorionic villus samples may detect a certain proportion of mosaicism. Therefore, combining fluorescence in situ hybridization to achieve an accurate diagnosis and a detailed and systematic ultrasonic scan are recommended.

Progress of cell-free fetal RNA in maternal plasma in prediction of preeclampsia / 中华围产医学杂志

Due to the advantages of being unaffected by fetal gender, ease of detection, and good stability, circulating cell-free fetal RNA (cffRNA) is a potential biomarker in obstetric practice. Current evidence has shown that placenta is the main source of circulating cffRNA. In view of the abnormal expression levels in women with preeclampsia and intrauterine growth restriction, circulating cffRNA is proposed as a potential tool to predict or diagnose these diseases. A summary of the molecular characteristics and the applications in preeclampsia of circulating cffRNA is reviewed, in order to evaluate the hypothesis for the prediction of preeclampsia by cffRNA.

Impact of environmental microplastics on maternal and fetal health / 中华围产医学杂志

Microplastics refer to plastic fibers, particles, or films with a particle size less than 5 mm, and microplastics pollution has become one of the major global environmental problems. Microplastics can be exposed to the human body through ingestion, inhalation and skin contact, affecting maternal and fetal health through mechanisms such as cytotoxicity and signal transduction, energy homeostasis and metabolic disorders, immune dysfunction, and as carriers of microorganisms or toxic chemicals. The purpose of this paper is to review the physical and chemical properties of microplastics, human exposure pathways, maternal-fetal effects, and its mechanisms.

Research progress on the animal models and treatment strategies of diabetic foot ulcer / 浙江大学学报·医学版

The suitable experimental animal model is important in research of pathogenesis and therapeutic strategies of diabetic foot ulcer, and the murine model is the most commonly used one at present. It can be divided into two types: the animal model simulating pathological conditions and the model simulating clinical symptoms. This article reviews the current research progress on the mechanisms of diabetic ulcer pathogenesis, and relevant treatment strategies, including the inhibition of matrix metalloproteinases (MMPs) expression, promotion of angiogenesis and anti-inflammatory therapy.

Clinical, cytogenetic and dual-color FISH studies on five cases of myelodysplastic syndrome or acute myeloid leukemia patients with 1;7 translocation / 中华医学杂志(英文版)

<p><b>OBJECTIVE</b>To study the clinical and cytogenetic characteristics of four patients with myelodysplastic syndrome (MDS) and one with acute myeloid leukemia experiencing t (1;7).</p><p><b>METHODS</b>Five patients seen in our hospital from 1992 to 2001 were diagnosed as MDS and acute myelocytic leukemia (AML) according to the French-American-British (FAB) criteria. Chromosomes were prepared using the direct method as well as 24-hour unstimulated cultures of fresh heparinized bone marrow for each subject, while R-banding was used to analyze karyotypes. Dual-color fluorescence in situ hybridization (FISH) using SpectrumRed and SpectrumGreen directly labeled chromosome 1-specific alpha-satellite DNA probe (red) and chromosome 7- specific alpha-satellite DNA probe (green) was performed for three cases.</p><p><b>RESULTS</b>Of the five patients, three had 1;7 translocation due to a long history of exposure to benzene. In three cases, dual-color FISH resulted in three red signals and two green ones, in which one red signal adjoining one green signal in 27.6%, 84% and 18.5% metaphases, respectively.</p><p><b>CONCLUSIONS</b>Exposure to benzene may be the cause for Chinese MDS and AML patients with t (1;7) translocation. The result of dual-color FISH convincingly confirmed that the centromere of the derivative chromosome 7p/1q resulting from 1;7 translocation was made up of centromeres from both chromosomes 1 and 7.</p>

Detection of common chromosome abnormalities in myelodysplastic syndrome with a panel fluorescence in situ hybridization / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To evaluate the value of a panel fluorescence in situ hybridization (FISH) in the detection of common chromosome abnormalities in myelodysplastic syndrome (MDS).</p><p><b>METHODS</b>Twenty cases of MDS patients, whose karyotypes were unknown by the FISH examiner beforehand, were analyzed with a panel FISH using YAC248F5 (5q31), YAC938G5 (7q32), CEP8 and YAC 912C3 (20q12) probes to detect the frequently occurring chromosome abnormalities (-5/5q, -/7q-, +8, 20q-) in MDS. Then the results were compared to those of conventional cytogenetics (CC).</p><p><b>RESULTS</b>Among 20 cases, 13 cases were found to carry common chromosome abnormalities by panel FISH (trisomy 8, five cases; -5/5q-, one case; 20q-, five cases; 5q- accompanying 20q-, one case; complex abnormalities, one case). However, on CC examination, only five cases were found to have common chromosomal abnormalities (20q-, four cases; 5q- accompanying 20q-, one case). In addition, trisomy 21, marker chromosome and complex abnormalities comprising -5, -7 and marker chromosomes were seen in one case each, the rest were normal.</p><p><b>CONCLUSION</b>Panel FISH is a useful tool of molecular cytogenetics in the detection of common chromosome abnormalities in MDS.</p>

Dual-color FISH study on myelodysplastic syndrome with 1;7 translocation / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To study the myelodysplastic syndrome(MDS) with 1;7 translocation in five cases and to determine further the constitution and origin of centromere of the derivative chromosome resulting from 1;7 translocation.</p><p><b>METHODS</b>Bone marrow chromosome preparation of five cases was made using direct method or short- term culture. Karyotypic analysis was carried out by R-banding technique. Dual-color fluorescence in situ hybridization(FISH) using Spectrum Red and Spectrum Green directly labeled chromosome 1-specific a-satellite DNA probe(red) and chromosome 7-specific a-satellite DNA probe(green) was performed in three patients of them.</p><p><b>RESULTS</b>All of the five cases had 1;7 translocation. The centromere of the derivative chromosome 7p/1q was constituted with red and green signals in three of them.</p><p><b>CONCLUSION</b>The result of dual-color FISH confirms that the centromere of the derivative chromosome resulting from 1;7 translocation originated from both centromeres of chromosome 1 and chromosome 7.</p>