- Fetal Myocardial Function as Assessed by N-Terminal Fragment Brain Natriuretic Protein in Premature Fetuses Exposed to Intra-amniotic Inflammation. [Journal Article]
- AJAm J Perinatol 2019 May 23
- CONCLUSIONS: Fetal myocardial left ventricular function does not seem to be significantly impaired in fetuses born alive due to IAI if delivery of the fetus occurs immediately following the diagnosis of IAI.
- Trials and tribulations of meta-analysing procedure-related risks of amniocentesis and chorionic villus sampling. [Editorial]
- UOUltrasound Obstet Gynecol 2019 May 22
- Evidence-based guidelines have previously quoted relatively high procedure-related risks of miscarriage with chorionic villus sampling and amniocentesis of 2% and 1%, respectively. Randomised control…
Evidence-based guidelines have previously quoted relatively high procedure-related risks of miscarriage with chorionic villus sampling and amniocentesis of 2% and 1%, respectively. Randomised controlled trials in this area are unlikely to be repeated, but contemporaneous observational data suggest much lower procedure-related risks. We were asked to update the evidence for the new, 5th edition of the RCOG Green-Top Guideline and provide new estimates of risks. In this editorial, we describe some of the methodological issues we faced which are relevant to anyone carrying out a meta-analysis and should help specialists to assess the applicability of meta-analysis findings to their clinical practice. This article is protected by copyright. All rights reserved.
- A novel mutation associated with Type III Bartter syndrome: A report of five cases. [Journal Article]
- MMMol Med Rep 2019 May 16
- The clinical, biochemical and mutation spectra of Chinese patients with Type III Bartter syndrome (type III BS), a rare autosomal recessive disorder, were investigated. A total of five unrelated Chin…
The clinical, biochemical and mutation spectra of Chinese patients with Type III Bartter syndrome (type III BS), a rare autosomal recessive disorder, were investigated. A total of five unrelated Chinese patients aged 8 months to 24 years were diagnosed with type III BS via analysis of biochemical markers, including chloride, potassium and calcium, and genetic sequencing. The levels of insulin‑like growth factor‑1 (IGF‑1) were evaluated via ELISA and a mutation study of cultured amniocytes was conducted for prenatal diagnosis. The child patients were admitted for polydipsia, polyuria, myasthenia and developmental delay, whereas the adult patients were hospitalized for limb numbness, polydipsia and polyuria. Nine variants in the chloride voltage‑gated channel Kb (CLCNKB) gene were detected, including eight sequence variants and one whole CLCNKB gene deletion. One sequence variant (c.1967T>C) was novel, whereas the remaining variants (c.595G>T, c.908A>C, c.1004T>C, c.1312C>T, c.1334_1335delCT and c.1718C>A) and the whole gene deletion had been previously reported. The whole gene deletion was frequently observed in patients with early‑onset type III BS in the present study. Two patients showed IGF‑1 deficiency with normal growth hormone level. All patients were treated with potassium supplementation and indometacin. The mother of one patient underwent amniocentesis during her second pregnancy; the fetus was not affected by type III BS based on screening for sequence variants, and normal development and blood electrolyte analysis following birth confirmed the diagnosis. In conclusion, five cases of type III BS in patients from mainland China were reported. Large deletions were frequently detected, particularly in early‑onset patients; isolated IGF‑1 deficiency was found, one novel sequence variant was identified. Prenatal diagnosis was successfully established using genetic analysis of cultured amniocytes, and may facilitate the prevention of congenital defect of type III BS in the next pregnancy.
- Increased nuchal translucency: results from microarray and RASopathy disorders testing. [Journal Article]
- UOUltrasound Obstet Gynecol 2019 May 22
- To determine the incidence of chromosome abnormalities, submicroscopic chromosomal microarray (CMA) abnormalities and RASopathy Disorders (RD) pathogenic variants in a cohort of pregnant patients wit…
To determine the incidence of chromosome abnormalities, submicroscopic chromosomal microarray (CMA) abnormalities and RASopathy Disorders (RD) pathogenic variants in a cohort of pregnant patients with a nuchal translucency (NT) ≥3.5mm. We propose a clinical protocol for surveillance of this group of patients.
- The human amniotic fluid mesenchymal stem cells therapy on, SKOV3, ovarian cancer cell line. [Journal Article]
- MGMol Genet Genomic Med 2019 May 20; :e726
- CONCLUSIONS: Our findings showed that hAFMSCs have natural tumor tropism, and can release soluble factors in a cell culture, which cause an efficient anticancer effect. Thus, we can use hAFMSCs for complete anticancer therapy on SKOV3 cell line at cell culture condition and possibly in vivo in the near future.
- Pregnancy and delivery in women with von Willebrand disease. [Review]
- EJEur J Haematol 2019 May 20
- Given the wide heterogeneity of phenotypes and of the underlying pathophysiological mechanisms associated with the disorder, pregnancy and delivery in von Willebrand disease (VWD) represent a signifi…
Given the wide heterogeneity of phenotypes and of the underlying pathophysiological mechanisms associated with the disorder, pregnancy and delivery in von Willebrand disease (VWD) represent a significant clinical challenge. The variable pattern of changes observed during pregnancy of von Willebrand factor (VWF) and factor VIII (FVIII), the protein carried by VWF, prompts a careful evaluation of pregnant women with VWD to plan the most appropriate treatment at the time of parturition. However, there are also instances during pregnancy (amniocentesis, vaginal bleeding associated with placental detachment, sudden abortion) that may require urgent hemostatic treatment to prevent bleeding. Thus, women with VWD should start pregnancy after being well characterized as to their type, subtype, and treatments. Women with VWD who have VWF and FVIII basal levels >30 U/dL typically normalize these levels at the end of pregnancy and specific anti-hemorrhagic prophylaxis is seldom required. On the contrary, those with basal levels <20 U/dL usually show a lesser increase and specific treatment is required. Some women with DNA variants associated with increased clearance can be treated with desmopressin, while those unresponsive or with contra-indications to this agent need replacement therapy. For these latter women, the risk of vaginal bleeding during pregnancy may be increased and prophylaxis with VWF concentrates required. Similarly, women with type 2 VWD who maintain reduced VWF activity throughout pregnancy require replacement therapy with FVIII/VWF concentrates. Delayed post-partum bleeding may occur when replacement therapy is not continued for some days. Tranexamic acid is useful at discharge to avoid excessive lochia. This article is protected by copyright. All rights reserved.
- The combination of maternal blood and amniotic fluid biomarkers improves the predictive accuracy of histologic chorioamnionitis. [Journal Article]
- PPlacenta 2019; 80:4-7
- CONCLUSIONS: We found that the combination of maternal blood and amniotic fluid biomarkers can improve the predictive accuracy of HC. Therefore, our data provide relevant information to support counseling with regard to improving the predictive accuracy of HC in patients with suspected intrauterine infection.
- Factors associated with the development of spontaneous intertwin membrane separation in dichorionic twin pregnancy. [Journal Article]
- JMJ Matern Fetal Neonatal Med 2019 May 21; :1-4
- CONCLUSIONS: The development of spontaneous intertwin membrane separation in dichorionic twin pregnancies seemed to be associated with dizygotic.
- Prenatal Sacrococcygeal Teratoma Diagnosed in a Fetus with Partial Trisomy 13q22. [Case Reports]
- CRCase Rep Obstet Gynecol 2019; 2019:2892869
- Sacrococcygeal teratoma is a rare neoplasm that arises from a totipotent stem cell in Henson's node. It has rarely been associated with chromosomal abnormalities. We present a unique case of a 25-yea…
Sacrococcygeal teratoma is a rare neoplasm that arises from a totipotent stem cell in Henson's node. It has rarely been associated with chromosomal abnormalities. We present a unique case of a 25-year-old primigravida at 19 weeks and 5 days of gestation found to have an exophytic complex mass with cystic and solid components in the sacral region. This mass was consistent with a sacrococcygeal teratoma. The patient had originally declined genetic screening. After the ultrasound and genetic counseling, she opted to have cell-free fetal DNA screening that was positive for Trisomy 13. Amniocentesis was performed to confirm the diagnosis. The karyotype demonstrated an abnormality of chromosome 13 and microarray demonstrated a complex structural abnormality of chromosome 13 with large regions of copy number gain. The patient underwent a dilation and evacuation at 23 weeks and 2 days. No fetal autopsy was done. This is a case of a prenatally diagnosed sacrococcygeal teratoma associated with Trisomy 13. It illustrates the diagnostic importance of amniocentesis in setting of fetal anatomical abnormalities on ultrasound. For patients who are reluctant to undergo amniocentesis, cell-free DNA results may provide the additional evidence of the need for diagnostic tests.
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- Obstetrical Outcomes of Amniocentesis or Chorionic Villus Sampling in Dichorionic Twin Pregnancies. [Journal Article]
- JKJ Korean Med Sci 2019 May 13; 34(18):e142
- CONCLUSIONS: Both the overall fetal loss rate and the procedure-related fetal loss rate of chorionic villus sampling and amniocentesis in dichorionic twin pregnancies had no statistical significance. Both procedures can be safely used individually.