Studies On Correlation Of Fetal Chromosomal Abnormalities And Indications Of Prenatal Diangosis

Objective: The aim of this study was to provide genetic counselling for the same high-risk pregnant women by analysising different type and quantity of prenatal diagnosis indications and exploring the relationship between single or joint indications and fetal chromosomal anomaly and pregnancy outcome of pregnant women.Methods:The object of this study were pregnant women who underwent amniocentesis between February 2011 and May 2015 in prenatal diagnosis center, the First Hospital of Jilin University. There are 3442 pregnant women were put in the research, age 17~48 years old, average age 31 years old,14-26 gestation weeks. Inclusion criteria:(1) There is a clear indications of prenatal diagnosis, eliminate pregnant women who had no indications but asked to do the piercing;(2) Karyotype analysis results were normal or clear abnormal, eliminate polymorphism or karyotype that can’t cultivate. According to the prenatal diagnosis indications grouping 6 groups:(1) advanced maternal age;(2) high-risk of serum screening;(3) ultrasound abnormality in fetuses;(4) the histories of abnormal pregnancy;(5) One of the couple are carrier of chromosomal abnormality;(6) Noninvasive prenatal testing is positive. Acording to the quantity with above indications grouping 3 groups:(1) Individual indication group;(2) Two indications group;(3) Combined three or more indications group, and group(2) further subdivided into 10 groups, they are the above six indications two combinations. After karyotype analysising, there were 132 abnormal karyotypes including 110 numerical abnormality and 22 structural abnormality. Telephone follow-up outcomes of women whoes fetal chromosomal anomaly. And By using SPSS software for fetal karyotype of chromosome abnormality detection rate in each group, and carried out a statistical analysis on the types of abnormal karyotype.Results are as follows:1. In this study, pregnant women with a single indication occupied the most proportion in women who underwent amniocenteis, was 60%, most of it was high-risk of serum screening(35.14%), and the percentage of women with two indications and three or more indications respectively are35.18%、4.65%.2. Acorrding to the type of fetal chromosomal abnormalities group, when chromosome aneuploidy, an amnio indications in the majority with serological screening high-risk combined ultrasonic anomalies(21.82%), when chromosome structural abnormalities, the indications in the majority with serological screening high-risk combined ultrasonic anomalies, followed by couple chromosomal abnormalities, the proportion respectively 21.82% and 22.73%.3. Analysising parents peripheral blood chromosome of 22 cases of abnormal fetal chromosomal structure, 10 were patemal, 4 were matemal and 4 were new mutations. Tips for structure abnormal fetal karyotype of trace their sources, suggested further testing comprehensive analysis provide clinical consultation.4. Acorrding to the indications of AS group, compared fetal chromosome abnormal rate between-subjects design and between-group coparisons, In terms of detection chromosome aneuploidy, abnormal fetal ultrasound and ultrasound abnormal joint-or serological screening high-risk pregnant women respectively, the anomaly detection rate is significantly higher than other groups and the difference was statistically significant; In terms of detection chromosome aneuploidy, couples chromosome abnormality carry group than other individual indications detection rate significantly higher and the difference was statistically significant. Tip ultrasonic anomalies is of great significance for detection of fetal abnormal chromosome number, and the couple carry for detection of fetal chromosomal abnormalities abnormal chromosome structure is of great significance.5. For 3315 routine fetal ultrasound study found that 1540 cases of pregnant women for ultrasonic positive, of which 100 cases of ultrasonic structural abnormalities, abnormal fetal echocardiogram is closely related to the 21-three body, fetal overlap refers to is closely related to the 18-three body; of the 1440 cases of abnormal ultrasonic soft data, with a number of soft data anomalies, significantly increased risk of chromosomal abnormalities is single soft data and the difference was statistically significant.6. Amniotic fluid puncture positive rate of noninvasive prenatal genetic testing positive patients was 73.33%, suggest that prenatal noninvasive detection as a screening experiments still need to prenatal diagnosis confirmed.7. To follow-up of 3442 prenatal diagnosis of pregnant women, Most with fetal abnormal chromosome number choose to terminate pregnancy, structured abnormal choose to continue a pregnancy and reproductive normal phenotype offspring;3310 cases of normal fetal in pregnant women with 2594 cases of normal childbirth, 78 pregnant women with other factors to terminate pregnancy.Conclusion: 1. In this study, fetal chromosomal anomaly detection rate was 3.83%, the prenatal diagnosis indication is given priority to with serological screening high-risk.2. Pregnant women serologic screening joint can detect most chromosome aneuploidy, the couple chromosome variations often carry most of the fetal chromosomal structural abnormalities can be detected.3. Abnormal fetal echocardiogram and 21-three body close, overlapping and fetal 18-three body occurs in the system closely; And when many soft data anomalies, the probability of fetal chromosomal abnormalities from a single increased significantly.4. The noninvasive prenatal genetic testing is only as a kind of accurate screening experiment, fetal chromosome confirmed still need to prenatal diagnosis.5. Fetal abnormal karyotype for the balance structure and inherited from parents, can delivery normal phenotype offspring, but the long-term fertility safety and outcome remains to be further research.