| The history of abnormal pregnancy include the history of fetal death, stillbirthspontaneous abortion, malformation, cause of abnormal gestation and birth on thebasis of many factors, chromosome abnormality is one of the important geneticfactors. Chromosome abnormality is mainly divided into structural distortion(translocation, inversion, missing, etc.) and the number of anomalies. Chromosomenumber abnormality include ultra female syndrome, turner syndrome, his syndrome,etc. Abnormal chromosome number or structure distortion can cause miscarriage,still birth, the occurrence of abnormal gestation and birth on the basis of such asteras, different chromosomal abnormalities will lead to different maternal outcomes.Therefore, it is necessary for couples with abnormal gestation and birth on the basisof cytogenetic analysis, and clarify its genetic causes. So as to provide theoreticalbasis for clinical diagnosis and treatment related, and give birth to provide prenatalguidance for it.Objective：This study analyze the results of abnormal gestation and birth on the basis ofcouple karyotype, observe the frequency of the chromosome abnormality,chromosome abnormality types and distribution characteristics, the relationshipbetween chromosome abnormality and number of abortion and chromosomepolymorphism variation in incidence of abnormal gestation and birth on the basis ofthe analysis of chromosome abnormality and abnormal gestation and birth on thebasis of the relationship between. Depending on the type of abnormal chromosomes,the genetic method, prognosis and recurrence risk, formulating correspondingintervention measures, avoiding the generation of birth defects, for eugenics toimprove the quality of the population in our country, lighten the burden of the familyand society, and to promote social stability, have the extremely importantsignificance. Method：This study adopts the method of case review analysis. From January1993toAugust2014in the department of gynaecology and obstetrics outpatient clinic ofmaternity hospital in changchun, based on abnormal gestation and birth on the basisof2432couples, screening of clinical characteristics of abnormal gestation and birthon the basis of (including abortion, stillbirth, teras, premature infant and neonataldeath, etc.) collecting patients’ gender, age, the histories of abnormal pregnancy,reuslts of karyotype analysis.2432pairs of abnormal gestation and birth on the basisof a couple of peripheral blood lymphocyte culture, preparation of chromosomespecimen, conventional methods after G banding chromosome analysis, the resultswere statistically analyzed.Results：(1)2432couples of abnormal gestation and birth include.1302couples ofabortion,321couples of stillbirths,562couples of malformation,73couples ofnewborns and premature deaths,174couples of birth defects, a total of126casesof chromosomal abnormal karyotype.The detection rate is5.18%(126/2432);2.59%of tested group (126/4864). Women abnormalities is77cases, the detection rate is3.17%（77/2432）.Male abnormal is49cases, the detection rate is2.01%（49/2432）.The anomaly detection of female is more than male.(2) In the1302couples of abortion history, We detected84cases of abnormalchromosome. The abnormal rate was6.45%(84/1302); In the321couples ofstillbirth abortion history, chromosomal abnormalities were detected in12cases. Theabnormal rate was3.74%(12/321).562pairs of malformation history, chromosomalabnormalities were detected in19cases, and the abnormal rate was3.38%(19/562);History of newborn and premature deaths couple73, chromosomal abnormalitieswere detected in2cases, the abnormal rate was2.74%(2/73); Having a history ofbirth defects were174couples. Nine cases of chromosomal abnormalities weredetected and the abnormal rate was5.17%(9/174).(3) This study of the communist party of126cases of abnormal chromosomedetection, among which79were balanced translocation, accounting for62.69%ofthe abnormal karyotype. Balanced translocation include reciprocal translocation,roche translocation, complex translocation. Reciprocal translocation is in63cases,accounting for50.00%of the abnormal karyotype. Roche translocation is in15cases, accounting for11.90%of the abnormal karyotype, Complex translocation is in1case, accounting for0.79%of the abnormal karyotype. Chromosome inversionchecked is in16cases, accounting for12.70%of the abnormal karyotype. Numberof abnormalities is in5cases, accounting for3.97%of the abnormal karyotype.Chimeric type is in25cases, accounting for19.84%of the abnormal karyotype.Compound abnormality is in1case, accounting for0.79%of abnormal karyotype.Abnormal chromosome structure, involving1~22all autosomal and Ychromosome.(4) In1302patients with abortion, abortion for one time191cases,8caseschromosomal abnormalities, abnormal rate was4.19%(8/191); abortion twice for672,40cases had chromosomal abnormalities, abnormal rate was5.95%(40/672);abortion287for three times, abnormal chromosome22cases, abnormal rate was7.67%(22/287); abortion4times and above152,14cases chromosomalabnormalities, abnormal rate was9.21%(14/152). Different number of abortioncouples between abnormal chromosome detection rates not seen statisticallydifference P>0.05.(5) This study checked out284cases of chromosome polymorphism. Thedetection rate were11.68%(284/2432), acounting for5.84%(284/4864) of the totalnumber of tested. inv (9) checked30cases was female. The detection rate was1.23%.23cases checked was male. The detection rate is0.95%. On chromosome1,9,16qh+women1case detection rate was0.04%, male detection in2cases, thedetection rate was0.08%;8women short arm growth detection in D/G group, thedetection rate of0.33%,8male detection, the detection rate is0.33%; checking outthe big Y210cases, the detection rate is8.63%. Checking out the small Y in2cases,the detection rate is0.08%.(6)2432couples of abnormal gestation and birth include1302couples ofabortion, check out the146cases of chromosome polymorphism. The detection ratewas11.21%(146/1302).321for stillbirth,46cases of chromosome polymorphismwas detection. The detection rate was14.33%(46/321);562for teras,55cases ofchromosome polymorphism was detection. The detection rate was9.79%(55/562).Newborn and premature deaths of73,12cases was detected with chromosomepolymorphism. The detection rate was16.43%(12/73). Born have defects detection,25cases of chromosome polymorphism was detaction. The detection rate was 14.36%(25/174), all kinds of couples of abnormal gestation and birth, there was nostatistically significant difference in chromosome polymorphism detection rate (P>0.05).(7) In2432couples of abnormal gestation and birth, there was1302pairs ofabortion.146cases of chromosome polymorphism was checked out. The detectionrate was11.21%(146/1302), miscarriage of1time is191pairs,13cases ofchromosome polymorphism were checked out. The detection rate was6.81%(13/191). Abortion of2times was672pairs.89cases of chromosome polymorphismwere checked out. The detection rate was13.24%(89/672). Abortion of3times was287pairs,28cases of chromosome polymorphism was detection, the detection ratewas9.76%(28/287). Abortion of more than3times was152pairs,16cases ofchromosome polymorphism were checked out. The detection rate was10.53%(16/152). Differences between different number of abortion, detection rate ofchromosome polymorphism has no statistical significance (P>0.05).Conclusion：1. Based on the chromosomes inspections of2432couples about abnormalgestation and birth, we found126cases of chromosomal abnormalities, the abnormalrate was2.59%, in the2432couples of abnormal gestation and birth, there was126couples of a party as the carriers of chromosomal abnormalities, chromosomeabnormality acouting for5.18%of abnormal gestation and birth.2. In the2432couples of abnormal gestation and birth, the rate of chromosomeabnormality of female was more than for male.3. In the126cases of chromosomal abnormalities, balanced translocationdetection rate was the highest. In the balanced translocation, the largest proportionwas the reciprocal translocation.4．The detection rate between abortion times has no difference.5. Dig Y chromosome polymorphism has the highest detection rate in284cases.6．The detection rate of chromosome polymorphism between abortion numberhas no difference. |
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