1.Ectopic pregnancy and previous induced abortions
Journal of Medical and Pharmaceutical Information 2003;0(5):34-37
Ectopic pregancy and previous induced abortions: To assess the risk of ectopic pregnancy (EP) by previous induced abortions (IA), a case control study was conducted at Tudu Obstetric and Gynecology hospital in 2000 with 160 cases of extrauterine pregnancy and 320 cases of intrauterine pregnancy under 14 weeks. The results showed that previous induced abortion was the risk of EP with odds ratio (OR) of 4.8(95% Cl: 3.2-7.2). However, we did not find any association between the number of abortions and IA with complications has had the relationship with EP. We found a 24,5 fold increases risk of EP after IA taken place in private sector or commune levels compared with IA taken in hospital or districts hospitals. Uterine curettage was the risk of EP, safe abortion and IA by no invasive procedures should be paid more attention
Pregnancy, Ectopic
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Abortion, Eugenic
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Hysteroscopy
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Abortion, Induced
2.A Case of Successful Selective Abortion Using Radio-frequency Ablation in Twin Pregnancy Suffering from Severe Twin to Twin Transfusion Syndrome.
Eun Mi CHANG ; Mi Hye PARK ; Young Ju KIM ; Jong Il KIM ; Jung Ja AHN ; Sun Hee CHUN
Journal of Korean Medical Science 2009;24(3):513-516
Twin to twin transfusion syndrome (TTTS) is one of the major complication of monochorionic twin pregnancy which is mainly understood by placental vascular anastomosis. Perinatal mortality and morbidity is high as 80-100% if untreated and even higher if the disease is developed at early stage. Variety of methods of isolating or intercepting placental vascular anastomosis are introduced, but they are only available in centers where all the required equipments are prepared. We report here a case of TTTS complicated with severe polyhydroamnios during the second trimester. The blood supply to donor twin was interrupted successfully at 19+2 weeks of gestation by minimally invasive radio-frequency cord ablation, under ultrasound guidance. The normal recipient twin was delivered successfully at 35 weeks of gestation and had no eventful neonatal course.
Abortion, Eugenic/*methods
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Adult
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*Catheter Ablation
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Female
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Fetofetal Transfusion/*diagnosis/ultrasonography
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Gestational Age
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Humans
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Pregnancy
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Twins
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Twins, Monozygotic
3.A Case of Successful Selective Abortion Using Radio-frequency Ablation in Twin Pregnancy Suffering from Severe Twin to Twin Transfusion Syndrome.
Eun Mi CHANG ; Mi Hye PARK ; Young Ju KIM ; Jong Il KIM ; Jung Ja AHN ; Sun Hee CHUN
Journal of Korean Medical Science 2009;24(3):513-516
Twin to twin transfusion syndrome (TTTS) is one of the major complication of monochorionic twin pregnancy which is mainly understood by placental vascular anastomosis. Perinatal mortality and morbidity is high as 80-100% if untreated and even higher if the disease is developed at early stage. Variety of methods of isolating or intercepting placental vascular anastomosis are introduced, but they are only available in centers where all the required equipments are prepared. We report here a case of TTTS complicated with severe polyhydroamnios during the second trimester. The blood supply to donor twin was interrupted successfully at 19+2 weeks of gestation by minimally invasive radio-frequency cord ablation, under ultrasound guidance. The normal recipient twin was delivered successfully at 35 weeks of gestation and had no eventful neonatal course.
Abortion, Eugenic/*methods
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Adult
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*Catheter Ablation
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Female
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Fetofetal Transfusion/*diagnosis/ultrasonography
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Gestational Age
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Humans
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Pregnancy
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Twins
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Twins, Monozygotic
4.Prenatal Sonographic and MR Imaging Findings of Extensive Fetal Lymphangioma: A Case Report.
Sung Eun RHA ; Jae Young BYUN ; Hak Hee KIM ; Jong Chul SHIN ; Hyun Young AHN ; Dong chul KIM ; Kyo Young LEE
Korean Journal of Radiology 2003;4(4):260-263
We report the imaging findings in a case of fetal lymphangioma involving the retroperitoneum and right lower extremity, and diagnosed by ultrasonography and magnetic resonance (MR) imaging at 26 weeks of gestation. Prenatal ultrasonograms and T2-weighted single-shot fast spin-echo MR images clearly revealed an extensive, multilocular cystic mass with internal hemorrhage in the retroperitoneum extending to the lower extremity.
Abortion, Eugenic
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Adult
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Female
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Fetal Diseases/*pathology/*ultrasonography
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Human
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Lower Extremity/pathology/ultrasonography
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Lymphangioma/*pathology/*ultrasonography
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Magnetic Resonance Imaging/*methods
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Pregnancy
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Retroperitoneal Space/pathology/ultrasonography
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Ultrasonography, Prenatal
5.The Effect on Pain of Waiting between Paracervical Block and Procedure in Dilatation and Curettage.
Myong Cheol LIM ; Suk Hee LEE ; Mi Kyung CHANG ; Bo Yeon LEE ; Keon Sik KIM ; Sun Kyung LEE ; Huh Joo YEOP ; Seung Bo KIM
Korean Journal of Obstetrics and Gynecology 2004;47(5):952-956
OBJECTIVE: In Korea, approximately 600 thousand artificial abortions are done officially during the course of a year, and dilatation and curettage is commonly used as a method for selective abortion. In addition, because of the increasing use of hormone replacement therapy for treating postmenopausal syndrome and for the diagnostic purposes for postmenopausal bleeding, the importance of dilatation and curettage is emphasized more and more. Our objective was to verify the effects of delayed time between paracervical block and the procedure of dilatation and curettage on pain and patient satisfaction. METHODS: 92 women who underwent dilatation and curettage were picked and divided into 2 groups randomly. In group A there was no transit delay time between paracervical block and the procedure, and in group B, there was 5 minutes delay time. We used the VAS (Visual Analogue Scale) to measure numerical value of pain and patient satisfaction during uterine cervical dilatation, the actual procedure of curettage, and 30-45 minutes after the procedure. RESULTS: There was no statistically meaningful difference on the pain value and patient satisfaction between group A and group B measured during uterine cervix dilatation, curettage, and 30-45 minutes after the procedure. CONCLUSION: The transit delay time between paracervial anesthesia and dilatation and curettage had no specific effects on the pain or patient satisfaction of the procedure. Therefore, the main role of paracervical anesthesia is not to block the peripheral nerve, but instead to dilatate the tissue mechanically.
Abortion, Eugenic
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Anesthesia
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Anesthesia, Obstetrical*
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Cervix Uteri
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Curettage
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Dilatation and Curettage*
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Dilatation*
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Female
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Hemorrhage
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Hormone Replacement Therapy
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Humans
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Korea
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Labor Stage, First
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Patient Satisfaction
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Peripheral Nerves
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Pregnancy
6.Genetic and prenatal diagnosis of a pregnant women with mental retardation.
Lin ZHANG ; Meihong REN ; Guining SONG ; Xuexia LIU ; Jing ZHANG ; Jianliu WANG
Chinese Journal of Medical Genetics 2016;33(5):674-677
OBJECTIVETo conduct genetic testing and prenatal diagnosis for a pregnant women with growth retardation, severe mental retardation, and a history of adverse pregnancies.
METHODSG-banded chromosome analysis, fluorescence in situ hybridization (FISH), and whole genome DNA microarray were used to analyze the patient and her fetus.
RESULTSThe women was found to be a chimera containing two cell lines with 47 and 46 chromosomes, respectively. Both have involved deletion of 18q21.2q23. FISH analysis suggested that the cell line containing 47 chromosomes has harbored a chromosome marker derived from chromosome 15. The marker has contained chromosome 15p involving the SNRPN locus and part of 15q, which gave rise to a karyotype of 47,XX,del18q21.3,+ish mar D15Z1+ SNRPN+[82]/46,XX,del18q21.3[18]. Whole genome DNA microarray confirmed that a 3.044 Mb fragment from 15q11.2q12 was duplicated, which involved NIPA1, SNRPN and other 17 OMIM genes. Duplication of this region has been characterized by low mental retardation, autism, developmental delay. Meanwhile, there was a 17.992 Mb deletion at 18q21.33q23, which contained 39 OMIM genes including TNFRSF11A and PHLPP1. This fragment was characterized by mental retardation, developmental delay, short stature, and cleft palate. Whole genome microarray analysis confirmed that there was a 17.9 Mb deletion at 18q21.33q23, which has been implemented with mental retardation, general growth retardation, short stature, and cleft palate. After genetic counseling, the family decided to terminate the pregnancy at 21st week.
CONCLUSIONCombined chromosome karyotyping, FISH, and whole genome DNA microarray can determine the origin of marker chromosomes and facilitate delineation of its correlation with the clinical phenotype.
Abortion, Eugenic ; Adult ; Chromosome Aberrations ; Chromosome Banding ; Chromosomes, Human, Pair 15 ; genetics ; Chromosomes, Human, Pair 18 ; genetics ; Fatal Outcome ; Female ; Fetus ; abnormalities ; metabolism ; Growth Disorders ; embryology ; genetics ; Humans ; In Situ Hybridization, Fluorescence ; Intellectual Disability ; embryology ; genetics ; Karyotype ; Karyotyping ; Prenatal Diagnosis ; methods
7.Prenatal diagnosis of a case with 46,XX,del(4),dup(21).
Lin ZHANG ; Meihong REN ; Guining SONG ; Xuexia LIU ; Jing ZHANG ; Xiaohong ZHANG
Chinese Journal of Medical Genetics 2017;34(1):50-52
OBJECTIVETo investigate the genetic cause and prognosis of a fetus with a rare karyotype.
METHODSFluorescence in situ hybridization (FISH) was used for verifying a structural chromosomal abnormality detected by conventional karyotyping analysis. Whole genome DNA microarray was used to analyze copy number variations carried by the fetus.
RESULTSThe fetus was found to have a 46,XX,dup(21)(?q21q22) karyotype, which was verified by FISH analysis as repetition of chromosome 21 region, namely nuc ish 21q22×3. Whole genome DNA microarray confirmed that there was a 17.87 Mb duplication in the 21q21.3q22.3 region, which involved GATA1, JAK2 and ALL genes and spanned the Down syndrome region. The genes are implicated in craniofacial abnormalities, cardiac abnormalities, mental retardation, growth retardation, limb abnormalities. In addition, there was also an 8.43 Mb deletion in the 4p16.1p16.3 region, which involved FGFR3, LETM1, WHSC1 and WHSC2 and other 64 OMIM genes and spanned the Wolf-Hirschhorn syndrome region. The genes are implicated in growth retardation, craniofacial abnormalities, cardiac abnormalities, mental retardation, and hypotonia. After consultation, the family chose to terminate the pregnancy at 25th week of gestation.
CONCLUSIONFISH can help to verify structural chromosome abnormalities suspected by conventional karyotyping analysis. Combined with whole genome microarray, these can determine copy number variation and its region containing the disease genes, and facilitate clinical analysis of the fetus.
Abortion, Eugenic ; Adult ; Chromosome Banding ; Chromosome Deletion ; Chromosome Disorders ; diagnosis ; genetics ; Chromosome Duplication ; Chromosomes, Human, Pair 21 ; genetics ; Chromosomes, Human, Pair 4 ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; genetics ; Genetic Counseling ; Humans ; In Situ Hybridization, Fluorescence ; Karyotyping ; Pregnancy ; Prenatal Diagnosis ; methods
8.Analysis of PKHD1 gene mutation in a family affected with infantile polycystic kidney disease.
Yanbao XIANG ; Huanzheng LI ; Chenyang XU ; Xueqin DONG ; Xueqin XU ; Chong CHEN ; Shaohua TANG
Chinese Journal of Medical Genetics 2016;33(5):662-665
OBJECTIVETo analyze PKHD1 gene mutation in a family affected with autosomal recessive polycystic kidney disease (ARPKD).
METHODSGenomic DNA was extracted from peripheral and cord blood samples obtained from the parents and the fetus. Potential mutations were identified using targeted exome sequencing and confirmed by Sanger sequencing. Pathogenicity of the mutation was analyzed using PolyPhen-2 and SIFT software.
RESULTSCompound heterozygous mutations of c.11314C>T (p.Arg3772*) and a novel missense c.889T>A (p.Cys297Ser) of the PKHD1 gene were identified in the fetus. The mother was found to have carried the c.11314C>T mutation, while the father was found to have carried the c.889T>A mutation. PolyPhen-2 and SIFT predicted that the c.889T>A mutation is probably damaging.
CONCLUSIONA novel mutation in PKHD1 gene was detected in our ARPKD family. Compound heterozygous PKHD1 mutations were elucidated to be the molecular basis for the fetus affected with ARPKD, which has facilitated genetic counseling and implement of prenatal diagnosis for the family.
Abortion, Eugenic ; Adult ; Amino Acid Sequence ; Base Sequence ; DNA Mutational Analysis ; Family Health ; Fatal Outcome ; Female ; Fetal Diseases ; diagnostic imaging ; genetics ; Fetus ; abnormalities ; metabolism ; Humans ; Male ; Mutation ; Polycystic Kidney, Autosomal Recessive ; diagnostic imaging ; embryology ; genetics ; Pregnancy ; Receptors, Cell Surface ; genetics ; Sequence Homology, Amino Acid ; Ultrasonography, Prenatal ; methods
9.Analysis of CGG repeat instability in germline cells from two male fetuses affected with fragile X syndrome.
Ranhui DUAN ; Shiyu LUO ; Wen HUANG ; Haoxian LI ; Ying PENG ; Qian DU ; Lingqian WU
Chinese Journal of Medical Genetics 2016;33(5):606-609
OBJECTIVETo study the pattern of CGG repeat instability within germline cells derived from two male fetuses affected with Fragile X syndrome (FXS).
METHODSThe length and methylation status of CGG repeats within the testes of a fetus carrying a full FXS mutation and another fetus carrying mosaicism FXS mutation were analyzed with Southern blotting and AmplideX FMR1 PCR. Immunohistochemistry was also applied for the measurement of FMR1 protein (FMRP) expression within the testes.
RESULTSFor the fetus carrying the full mutation, Southern blotting analysis of the PCR product has detected an expected band representing the full mutation in its brain and a premutation band of > 160 CGG repeats in its testis. Whereas the pattern of premutation/full mutation in mosaic testis was similar to that in peripheral blood and no sign of contracted fragment was found other than a band of about 160 CGG repeats. Immunohistochemistry assay with a FMRP-specific antibody demonstrated a number of FMRP-positive germ cells, which suggested a contraction from full mutation to premutation alleles.
CONCLUSIONThis study has clarified the instability pattern of CGG repeat and expression of FMRP protein within the testes of fetuses affected with FXS, confirming that the CGG repeat can contract progressively within the germline. The FMRP expression in the testis is consistent with spermatogonium proliferation, and thus the contraction from full mutation to unmethylated premutations may occur for the requirement of FMRP expression during spermatogenesis. The better understanding of FMRP function during germ cell proliferation may elucidate the mechanism underlying the contraction of full FXS mutation in male germline.
Abortion, Eugenic ; Blotting, Southern ; Brain ; embryology ; metabolism ; DNA Methylation ; Fatal Outcome ; Fetus ; cytology ; metabolism ; Fragile X Mental Retardation Protein ; genetics ; metabolism ; Fragile X Syndrome ; diagnosis ; genetics ; Humans ; Immunohistochemistry ; Male ; Mosaicism ; Mutation ; Polymerase Chain Reaction ; Spermatozoa ; metabolism ; Testis ; cytology ; embryology ; metabolism ; Trinucleotide Repeat Expansion ; genetics