| Objective To investigate the relationship between adverse pregnancy history and different fetal ultrasound abnormalities and fetal chromosomal abnormalities,and to evaluate the clinical efficacy of chromosomal microarray analysis(CMA)techniques in the diagnosis of fetal chromosomal abnormalities.Methods A total of 810 singleton pregnant women who underwent interventional prenatal diagnosis at the Prenatal Diagnosis Center of the General Hospital of Ningxia Medical University from April 2017 to December 2019 were collected.The gestational week is 18 to 26 weeks(average gestational week 21 + 4 weeks),and the age is 17 to 50 years(average age 31 years).Simultaneous chromosome karyotype analysis and CMA detection are performed on amniotic fluid cells.copy number variation(CNV)query public databases for clinical significance analysis,and comprehensive analysis and group statistics of test results.Results1.Results of CMA and karyotype analysis810 samples were detected by CMA and chromosome nuclear analysis techniques.The detection rates of chromosomal abnormalities were 16.67%(135/810)and 9.88%(80/810).Compared,P <0.01,the difference is significant and statistically significant.2.The chromosome results of fetal whose mother has adverse pregnancy historyThe detection rate of fetal chromosomal abnormalities in the group with a history of poor motherhood(21.43%)was higher than that in the group without a history of adverse motherhood(15%),P<0.05,the difference was statistically significant;The comparison of fetal CNV detection rate in the group without adverse pregnancy history(11%),P<0.05,the difference was statistically significant;210 patients with adverse pregnancy history were divided into 3 groups,and the fetal CNV detection rates were: 16.90%(12/71)in the dysplasia group,14.58%(14/96)in the abortion group,and 18.60%(8/43)in the chromosomal abnormality group.Comparison of fetal CNV detection rates between the three groups,P> 0.05,no statistical difference.3.The chromosome results of ultrasound abnormal fetalThe detection rate of chromosomal abnormalities in the fetal ultrasound abnormal group(18.31%)was higher than that in the fetal non-ultrasonic abnormal group(12.27%),P<0.05,the difference was statistically significant;the ultrasound structural abnormal group(22.46%),and the ultrasound soft index group(12.03 %)Compared with the mixed group(24.82%),the detection rate of fetal chromosomal abnormalities was higher in the ultrasound structural abnormality group and the mixed group than in the soft index group(P<0.01).The difference in the mixed group was not statistically significant(P>0.5);the detection rate of fetal chromosomal abnormalities in the multiple fetal ultrasound abnormality group(22.22%)was higher than that in the single fetal ultrasound abnormality group(15.73%),P<0.05,and the difference was statistically significant.Significance;in single fetal ultrasound abnormalities,the thickness of the fetal neck clear layer(nuchal transcency(NT)),cardiovascular system abnormalities,and nervous system abnormalities are highest,with 19.70%,16.85%,and 16.46% of chromosomal detection rates,respectively.4.The chromosome results of NT value thickens fetalThe detection rate of fetal chromosomal abnormalities with NT thickening was 19.77%(17/86),of which 5 were aneuploidy(5.81%),12 were CNV(13.96%),and 4 were pCNV(4.65%),which were 1q21.1 micrograms.Deficiency Syndrome,18 p Deletion Syndrome,16p11.2 Repeat Syndrome,and 22q11.2 Microdeletion Syndrome.The clinical significance of the remaining 8 cases is unknown.Single fetal NT thickening group(19.70%)and NT thickening with other ultrasound abnormalities The comparison of detection rates of fetal chromosomal abnormalities in the two groups(20%),P>0.05,the difference was not statistically significant;86 cases of fetal NT thickening were divided into three groups based on NT values,and the detection rates of fetal chromosomal abnormalities were: 2.5mm?NT <3mm group 6.25%(2/32),3mm?NT<5mm group 26.09%(12/46),NT?5mm group 37.5%(3/8),comparison of detection rates of fetal chromosome abnormalities There was no statistically significant difference between the 3mm?NT<5mm group and the NT?5mm group(P>0.5),and the differences between the other two groups were statistically significant(P<0.05).Conclusion1.Compared with the traditional karyotype analysis technology,CMA technology has significantly improved the detection rate of fetal chromosomal abnormalities in the prenatal diagnosis field2.Pregnant women with a previous history of poor motherhood have an increased chance of fetal chromosomal abnormalities when they are pregnant again.3.Prenatal ultrasound examination indicates abnormal fetuses at increased risk of chromosomal abnormalities4.Increasing incidence of fetal chromosomal abnormalities with NT value ?3mm... |
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