Objective This study was undertaken to evaluate intracranial magnetic resonance imaging abnormalities in the surviving fetus after a cotwin demise. Study Design This is a retrospective observational ...study evaluating the intracranial findings of surviving twins after demise of a monochorionic cotwin. A total of 47 cases of cotwin demise were identified from an magnetic resonance imaging database consisting of all fetal magentic resonance imagings performed at the University of California San Francisco. Twenty-one of these cases were monochorionic twins who had not undergone an intervention (fetal radiofrequency ablation and placental laser ablation) and these comprised the study group. The magnetic resonance imagings were reviewed by a pediatric neuroradiologist who was blinded to the ultrasound and clinical findings. Results The mean gestational age at the time of cotwin demise was 196/7 weeks (range 124/7 weeks-265/7 weeks) with an average interval of 43/7 weeks between the time of cotwin demise and fetal magnetic resonance imaging (range 0-121/7 weeks). Nine cases (41%) were associated with diagnosed twin-twin transfusion syndrome. Abnormal findings, including polymicrogyria, germinolytic cysts, intracranial hemorrhage, ventriculomegaly, and delayed sulcation were identified by fetal magnetic resonance imaging in 7 (33%) cases, the majority of which had a normal ultrasound. Conclusion Prenatal magnetic resonance imaging is a valuable tool in evaluating the fetal brain after a cotwin demise.
Abstract Background Hoyeraal-Hreidarsson syndrome is a dyskeratosis congenita–related telomere biology disorder that presents in infancy with intrauterine growth retardation, immunodeficiency, and ...cerebellar hypoplasia in addition to the triad of nail dysplasia, skin pigmentation, and oral leukoplakia. Individuals with Hoyeraal-Hreidarsson syndrome often develop bone marrow failure in early childhood. Germline mutations in DKC1, TERT, TINF2, RTEL1, ACD, or PARN cause about 60% of Hoyeraal-Hreidarsson syndrome cases. Patient Description We describe 14 years of follow-up of an individual with Hoyeraal-Hreidarsson syndrome who initially presented as an infant with intrauterine growth retardation, microcephaly, and central nervous system calcifications. He was diagnosed with Hoyeraal-Hreidarsson syndrome at age 6 years and had a complicated medical history including severe developmental delay, cerebellar hypoplasia, esophageal and urethral stenosis, hip avascular necrosis, immunodeficiency, and bone marrow failure evolving to myelodysplastic syndrome requiring hematopoietic cell transplantation at age 14 years. He had progressive skin pigmentation, oral leukoplakia, and nail dysplasia leading to anonychia. Whole exome sequencing identified novel biallelic variants in PARN. Conclusions This patient illustrates that the constellation of intrauterine growth retardation, central nervous system calcifications, and cerebellar hypoplasia, esophageal or urethral stenosis, and cytopenias, in the absence of congenital infection, may be due to Hoyeraal-Hreidarsson syndrome. Early diagnosis of Hoyeraal-Hreidarsson syndrome is important to optimize medical management and provide genetic counseling.
Abstract The introduction of cell-free DNA (cfDNA) screening for aneuploidy into obstetric practice in 2011 revolutionized the strategies utilized for prenatal testing. The purpose of this document ...is to review the current data on the role of ultrasound in women who have undergone or are considering cfDNA screening. The following are SMFM recommendations: 1) in women who have already received a negative cfDNA screen, ultrasound at 11-14 weeks of gestation solely for the purpose of NT measurement (CPT code 76813) is not recommended (GRADE 1B); 2) we recommend that diagnostic testing should not be recommended to patients solely for the indication of an isolated soft marker in the setting of a negative cfDNA screen (GRADE 2B); 3) in women with an isolated soft marker without other clinical implications (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative cfDNA screen, we recommend describing the finding as “not clinically significant” or as a “normal variant” (GRADE 2B); 4) in women with an isolated soft marker that has no other clinical implication (ie, choroid plexus cyst or echogenic intracardiac focus) and a negative first or second trimester screening result, we recommend describing the finding as “not clinically significant” or as a “normal variant” (GRADE 2B); 5) we recommend that all women in whom a structural abnormality is identified by ultrasound should be offered diagnostic testing with chromosomal microarray (GRADE 1A); 6) we recommend against routine screening for microdeletions with cfDNA (GRADE 1B).
With the introduction of cell-free DNA screening for fetal aneuploidy and chromosomal microarray for prenatal diagnostic testing, options for pregnant women have become increasingly complex. ...Discussions regarding options for prenatal testing for aneuploidy should occur prior to any testing and should include pertinent risks and benefits of each alternative test. There is no single screening or diagnostic test option that is the right choice for all patients; patient decisions should be based on each individual woman's values and preferences after a discussion of all options.
Google obstetrics: who is educating our patients? Kaimal, Anjali J., MD; Cheng, Yvonne W., MD, MPH; Bryant, Allison S., MD, MPH ...
American journal of obstetrics and gynecology,
06/2008, Letnik:
198, Številka:
6
Journal Article, Conference Proceeding
Recenzirano
Objective This study was undertaken to investigate the sources of information retrieved by searching for obstetrically related terms on the Internet. Study Design The Google and Yahoo search engines ...were used to search for the terms “cerebral palsy,” “birth trauma,” “shoulder dystocia,” “forceps delivery,” “epidural,” and “cesarean section.” The first page of results retrieved for these search terms was examined. Information regarding the organization or individuals sponsoring the websites was collected. Differences in sponsorship were investigated by using a χ2 test. Results Sponsorship was significantly different between topics ( P < .001). Lawyers were the most common sponsors of websites retrieved by the terms cerebral palsy (52%), birth trauma (48%), and shoulder dystocia (43%). Only 3.6% of websites on the first page of results were created or sponsored by obstetrician-gynecologists. Conclusion As the Internet becomes a frequently used source of health information, obstetrician-gynecologists should consider how this forum can be more effectively used to disseminate educational information.
Protocols that include first trimester screening for fetal chromosome abnormalities have become standard of care throughout the United States. Earlier screening allows for first trimester diagnostic ...testing in cases found to be at increased risk. However, first trimester screening requires coordination of the nuchal translucency ultrasound screening (NT) and biochemical screening, during early, specific, narrow, but slightly different gestational age ranges. Instant results can often be provided at the time of the NT ultrasound if preceded by the programs that perform the biochemical analyses; this optimizes the benefits of the first trimester approach while improving efficiency and communication with the patient. This article discusses the benefits and logistics of such an approach.
Objective This study was undertaken to assess an instant results protocol for first-trimester combined screening. Study Design Retrospective analysis of patients having first-trimester combined ...screening between Nov. 1, 2003 and Oct. 31, 2005. We evaluated the feasibility of patient self-collection and mail-in of blood samples before nuchal translucency ultrasound. Primary outcome was success with providing in-office, immediate screening results after the ultrasound. Predictor variables included age, ethnicity, insurance, and provider. The χ2 analysis was performed. Results Two thousand three hundred ten women completed first-trimester combined screening, and 60.6% received instant results. When the biochemistry sample was collected at home, 80% received instant results. Age 35 years or older predicted instant results ( P = .001), whereas ethnicity, insurance, and referring provider did not. Comparing the prior 24 months, clinic volume increased by 18%. Diagnostic procedure volume was unchanged, although chorionic villus sampling increased by 12% ( P = .02) and amniocentesis decreased by 6% ( P = .049). Conclusion Patients were able to obtain instant results in 60.6% of cases, which appeared to increase the use of chorionic villus sampling.
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