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OBJECTIVE@#To perform prenatal diagnosis, pedigree analysis, and genetic counseling of a pregnant woman who gave birth to a child with Kleefstra syndrome.@*METHODS@#Karyotype analysis, chromosomal microarray analysis (CMA), multiplex ligation-dependent probe amplification (MLPA) and fluorescence in situ hybridization (FISH) were used of peripheral blood and amniotic fluid to find causes. Recurrence risk assessment was performed later.@*RESULTS@#The amniotic fluid sample showed a 9q34.3 microduplication of arr (hg19) 9q34.3 (140 168 806-141 020 389)× 3, which overlapped the 9q34.3 microdeletion region of proband. The pregnant woman was detected with a balanced translocation of ish, t(9;17)(9q34.3; qter) (9p+; 17p+,9q+, 17q+). No other abnormal results were found in the family.@*CONCLUSION@#Offspring who share the same chromosome segment deletion or duplication are always from parent who carries balanced chromosomal structural aberration.
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Femenino , Humanos , Embarazo , Aberraciones Cromosómicas , Deleción Cromosómica , Cromosomas Humanos Par 9/genética , Pruebas Genéticas , Hibridación Fluorescente in SituRESUMEN
Objective To investigate the significances of karyotyping analysis on umbilical cord vein blood lymphocytes in the diagnosis of abnormal karyotypes in middle to late period of pregnant fetus.Methods A volume (0.5 ～ 1 ml) of umbilical cord vein blood was extracted from pregnant women in third trimester pregnancy with prenatal detection indications,and collected in sterilized anticoagulant tube.Lymphocytes were cultured and collected for karyotyping analysis after fixed and dropped on slides.Data were analyzed statistically.Results Lymphocytes were cultured successfully in 1 211 cases out of total 1 213 cases collected.Totally 142 abnormal karyotypes were found,which includes 81 cases (detection rate 6.68 ％) of non-heteromorphic abnormal chromosomes and 61 cases (detection rate 5.03％) of heteromorphic chromosomes.Among these abnormal karyotypes,50 cases (accounting for 35.21％ in total abnormal cases) of aneuploidy include 4 cases of chimerical karyotype.Structural abnormalities were found in 31 cases (accounting for 21.83％ in total abnormal cases) samples including 11 cases of translocations,17 cases of inversion and 3 cases of deletion.Conclusions Based on our findings,karyotyping analysis on umbilical cord vein blood lymphocytes could be an effective method for detect abnormal karyotypes in middle to late period of pregnant fetus and played an important role in prenatal diagnosis.
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Objective To investigate the distribution of congenital cardiovascular malformations in fetuses with chromosomal abnormalities.Method Congenital cardiovascular malformations of fetuses were diagnosed by prenatal ultrasonic cardiography from Jan 2011 to Sep 2013,and whose chromosomal karotype were tested by amniocentesis or cordocentesis.The association between chromosomal karyotypes and distribution of congenital cardiovascular malformations was analyzed.Result In 173 Fetuses with chromosomal abnormalities,20(11.56％) cases had congenital cardiovascular malformations,including seven 21-trisomies,eight 18-trisomies,three 13-trisomies and two 45,X.64％ (16/25) fetuses with congenital cardiovascular malformations accompanied with other malformations had chromosomal abnormalities.Only 1.87％ (52/4379) fetuses with normal karotype had congenital cardiovascular malformations.Conclusion Chromosomal abnormality is the most reason of complicate CHD.Chromosomal karotype test should be detected in fetus with complicate CHD.
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Forty-three children with congenital hypothyroidism(CH)underwent 99mTc thyroid scintigraphy, after being followed up by receiving levothyroxine till 2 to 3 years of age. The results showed that thyroid agenesia happened in 37 cases( 86.05% ) while entopic gland in 6 cases (13.95% ). Thyroid scintigraphy with 99mTc is an informative procedure in determining etiology and treatment schedules for children with CH.
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Objective To establish normal range of components of cord blood cells in healthy fetuses from 19 to 37 weeks' gestation and to provide proof for diagnosis of hematological disorders in prenatal fetuses and premature infants.Methods Twelve hematological parameters were determined in 182 fetuses using Coulter GENS system 2 full automated blood cell counter,and the blood cells were classified by microscope.Results The number of white blood cell(WBC) was increased gradually from 3.58?10~9/L to 5.76?10~9/L with the gestational weeks increasing from 19 to 37 weeks.The differential counts indicated that the lymphocytes represented the main population.The number of lymphocytes and normoblast was decreased gradually and that of neutrophils was increased gradually.The numbers of monocytes,eosinophils and basophils remained stable as the increasing of gestational weeks.The red blood cell(RBC),hemoglobin(HGB) and hematocrit(HCT) were increased gradually but mean corpuscular volume(MCV) was decreased.The differences between mean corpuscular hemoglobin(MCH),platelet volume distribution width(PDW),mean platelet volume(MPV),plateletcrit(PCT) and mean corpuscular hemoglobin concentration(MCHC) were not significant among different fetuses' ages.Conclusion The components of cord blood cells in healthy fetuses are dynamic and the establishment normal range of components of cord blood cells in healthy fetuses is helpful to diagnose the disorders in prenatal fetuses and premature infants.
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0.05).But the detection rates of them were all higher than that of AFP alone(P
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2.4M, PAPP-A2.0M and AFP