1.Prenatal and Postnatal MR Findings of a Congenital Hemangioma: A Case Report.
Kyung Hee CHOI ; Yun Woo CHANG ; Jung Jai LEE ; Woo Ryung LEE ; Young Wha KIM
Journal of the Korean Radiological Society 2007;57(6):579-581
Hemangiomas are common benign soft tissue tumors found in pediatrics. Knowledge of prenatal image findings for hemangiomas can be essential for ensuring optimal antepartum and postpartum care. In this study, we provide a report the MR findings of a congenital hemangioma in the posterior neck region, which was different from the pre and postnatal image findings as well as a literature review.
Fetal Diseases
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Fetus
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Hemangioma*
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Neck
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Pediatrics
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Postnatal Care
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Prenatal Diagnosis
2.Prenatal Diagnosis of Transient Abnormal Myelopoiesis in a Down Syndrome Fetus.
Korean Journal of Radiology 2009;10(2):190-193
We report a case of transient abnormal myelopoiesis in a Down syndrome fetus diagnosed at 28(+3) weeks of gestation that rapidly progressed to intrauterine death 10 days later. Fetal hepatosplenomegaly with cerebral ventriculomegaly, although not specific, may be a suggestive finding of Down syndrome with transient abnormal myelopoiesis. Prompt fetal blood sampling for liver function test and chromosomal analysis are mandatory for early detection and management.
Adult
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Down Syndrome/*ultrasonography
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Female
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Fetal Blood/cytology
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Fetal Death
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Fetal Diseases/*diagnosis
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Hepatomegaly/ultrasonography
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Humans
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Leukocytosis/diagnosis
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*Myelopoiesis
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Pregnancy
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*Prenatal Diagnosis
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Splenomegaly/ultrasonography
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Thrombocytopenia/diagnosis
3.Prenatal Diagnosis of Right Dominant Heart in Fetuses: A Tertiary Center Experience over a 7-year Period.
Juan FENG ; Mei ZHU ; Hao LIANG ; Qiao LI
Chinese Medical Journal 2017;130(5):574-580
BACKGROUNDRight dominant heart (RDH) in fetuses can occur with a number of cardiac as well as noncardiac anomalies. Analysis of the enlargement of the right cardiac chamber in the fetus remains a major challenge for sonographers and echocardiographers. The aim of this study was to report the experience with prenatal diagnosis of RDH in the fetuses over a 7-year period.
METHODSFetuses with prenatal diagnosis of RDH from July 2009 to July 2016 were evaluated in two different categories: according to the gestational age, Group I (n = 154, second trimester) and Group II (n = 298, third trimester); and according to the fetal echocardiography diagnosis, Group A (n = 452, abnormal cardiac structure) and Group B (n = 90, normal cardiac structure). Differences in categorical variables were assessed by Chi-square exact test and continuous variables were evaluated by independent Student's t-test or Mann-Whitney U-test depending on parametric or nonparametric nature of the data.
RESULTSOver a 7-year period, 452 fetuses were referred for the assessment of suspected RDH. Left-sided obstructive lesions were observed most frequently in the fetuses with RDH. When comparing Group I with Group II and Group A with Group B, the latter groups exhibited significant differences in the right/left ventricle (RV/LV) ratio (1.435 vs. 1.236, P = 0.002; 1.309 vs. 1.168, P = 0.047), RV width Z-score (1.626 vs. 1.104, P < 0.001; 1.553 vs. 0.814, P = 0.014), and above +2 cutoff percentages (14.3% vs. 22.5%; P = 0.038; 21.5% vs. 12.2%, P = 0.046). Multivariable logistic regression revealed no variables associated with perinatal survival.
CONCLUSIONSThe study demonstrates that RDH warrants careful attention to the possible presence of a structural cardiac anomaly, especially left-sided obstructive lesions. A diagnosis of RDH is best supported by a combination of the RV Z-score and RV/LV ratio. Most of the fetuses with RDH and structurally normal hearts had favorable outcomes.
Echocardiography ; Female ; Fetal Diseases ; diagnosis ; Fetal Heart ; abnormalities ; Heart Ventricles ; abnormalities ; Humans ; Pregnancy ; Prenatal Diagnosis ; methods ; Ultrasonography, Prenatal
4.A case of prenatal diagnosis of hemophilia A.
Kyung Soon SONG ; Anna LEE ; Kook LEE ; Byung Seok LEE
Journal of Korean Medical Science 1992;7(2):170-172
Classic hemophilia, (hemophilia A), is an X-linked hereditary bleeding disorder affecting half of the male offspring of female carriers. Prenatal diagnosis offers an option, namely to restrict abortions to hemophilic fetuses only, and thus retain the chance of bearing normal sons. Recently, the authors have made a prenatal diagnosis of hemophilia A in an obligate carrier with a male fetus at 24 weeks of gestation by pure fetal sampling and accurate factor VIII coagulant assay, which was repeatedly less than 1% at 28 weeks of gestation.
Adult
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Factor VIII/analysis
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Female
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Fetal Diseases/*diagnosis
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Hemophilia A/*diagnosis
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Humans
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Male
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Pregnancy
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*Prenatal Diagnosis
5.Noninvasive prenatal diagnosis of single gene disorders through cell-free fetal DNA in maternal blood.
Chinese Journal of Medical Genetics 2009;26(4):410-413
The discovery of cell-free fetal DNA (cff-DNA) in maternal plasma offered a new way to noninvasive prenatal diagnosis for single gene disorders. In the past decade, many techniques such as real-time PCR, pyrophosphorolysis-activated polymerization, mass spectrum and digital PCR have been developed for noninvasive prenatal diagnosis. In this review, the author discuss the principles, applications, advantages and disadvantages of these techniques.
DNA
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blood
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genetics
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Female
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Fetal Diseases
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diagnosis
;
genetics
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Genetic Diseases, Inborn
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diagnosis
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genetics
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Humans
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Maternal-Fetal Exchange
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Pregnancy
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Prenatal Diagnosis
;
methods
6.Preimplantation genetic diagnosis.
Chinese Journal of Medical Genetics 2002;19(3):250-252
Preimplantation genetic diagnosis is a very early form of prenatal diagnosis aimed at eliminating embryos carrying serious genetic diseases before implantation. The basic techniques currently used involve embryo biopsy, the polymerase chain reaction and fluorescence in situ hybridization. In the current review, a number of problems arising from the use of these technologies as well as the possible solutions and new developments are discussed.
Cytogenetic Analysis
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Female
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Fetal Diseases
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diagnosis
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genetics
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Humans
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Pregnancy
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Preimplantation Diagnosis
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Primed In Situ Labeling
7.Anesthesia for fetal procedures and surgery.
Yonsei Medical Journal 2001;42(6):669-680
Many of the anesthetic considerations for fetal procedures and surgery are identical to those for nonobstetric surgery during pregnancy, including concern for maternal safety, avoidance of both teratogenic drugs and fetal asphyxia, and the prevention of preterm labor and delivery. Anesthesia is required for the mother and quite often the fetus to perform many fetal procedures. Fetal procedures and surgery can be divided into subgroups according to their anesthetic requirements. For example: procedures that only require a needle insertion into the uterus but not into the fetus, such as intrauterine infusions; laser surgical photocoagulation of the communicating placental circulation for twin-twin transfusion syndrome (TTTS) and radio-frequency umbilical cord ablation for managing twin reversed arterial perfusion (TRAP), which are not really fetal procedures, rather they are placental or cord procedures; surgical procedures performed directly on the fetus; and the EX-utero Intrapartum Treatment (EXIT) procedure. Anesthetic considerations also depend on other factors, such as the location of the placenta. Unlike maternal surgery, for fetal procedures, the fetus is not an innocent bystander for whom the least anesthetic interference is used. Instead, the fetus can be the primary patient and may benefit from anesthesia, with close monitoring of the anesthetic effects to ensure well-being. Fetal asphyxia, hypoxia, or distress can be most effectively recognized, predicted, and avoided by fetal monitoring. Monitoring is also crucial for assessing the fetal response to corrective maneuvers.
*Anesthesia
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Animal
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Female
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Fetal Diseases/*diagnosis/*therapy
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Fetus/*surgery
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Human
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Pregnancy
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*Prenatal Diagnosis
10.Comment on: patients' perception of risk: informed choice in prenatal testing for foetal aneuploidy.
George S H YEO ; Christina CHOI
Singapore medical journal 2012;53(12):853-author's reply p. 854