| Objective(s):Fetal chromosome abnormality is the main cause of fetal defects,but the current clinical fetal chromosome screening process is not standardized,resulting in some pregnant women missed detection,missed diagnosis,and the current screening process may lead to pregnant women miss the best screening and treatment of pregnancy.This study combined the screening of soft ultrasound indicators with serological screening,clinical history,and advanced maternal age risk factors in the early trimester of the fetus,to explore the feasibility of soft ultrasound indicators combined with risk factors for screening fetal chromosome abnormalities,and to provide theoretical basis for improving the scoring system and implementation plan of prenatal diagnosis(amniotic fluid puncture)in clinical highrisk pregnant women.Methods: From January 2020 to January 2023,a total of 550 patients received AC test at the Second Affiliated Hospital of Kunming Medical University,and underwent NT examination at 11 ~ 13 weeks and 6 days of gestation and ultrasound examination at 16~18 weeks of gestation,including 54 AC-positive cases and 496AC-negative cases.They were divided into three groups according to < 35 years old(group A),35-40 years old(group B),and ≥40 years old(group C),and grouped according to the combined risk factors: < 35 years old combined risk factors(group a),35-40 years old combined risk factors(group b),and ≥40 years old combined risk factors(group c).The detection rate of fetal chromosomal abnormalities was compared according to advanced maternal age,medical history,serology and ultrasound soft labeling.Order the USMs according to their relationship to chromosomal abnormalities.Score values were assigned to all cases according to preset scores,and the detection rate of fetal chromosome abnormalities was compared between score < 2(group E 1)and score ≥2(group E2).Results:1.The single risk factors affecting fetal chromosome abnormality were:serological abnormality in 17 cases(29.6%),ultrasonic abnormality in 10 cases(18.5%),medical history factor in 4 cases(7.4%),and advanced maternal age factor in 3 cases(3.7%).The main multi-factor of fetal chromosome abnormality was serum abnormality + ultrasound abnormality in 8 cases(14.8%).2.There were significant differences in the positive detection rate of 35-40 years old advanced maternal age alone or advanced maternal age combined with risk factors(P < 0.05).There was significant difference in the positive detection rate of ≥40 years old advanced maternal age alone or advanced maternal age combined with risk factors(P < 0.05).< 35 years old pregnant women,serum abnormalities,medical history factors,ultrasound abnormalities and fetal chromosome abnormalities were not significantly correlated(P > 0.05);Serological abnormality + ultrasonic abnormality was the risk factor of fetal chromosome abnormality(P < 0.05).Serum abnormalities+ medical history abnormalities,medical history factors + serum abnormalities were not correlated with fetal chromosomes(P > 0.05).3.There was no difference in the detection rate of ultrasound abnormality and chromosome abnormality in single fetal in pregnant women < 35 years old,35-40 years old and ≥40 years old(P > 0.05).4.In pregnant women < 35 years old,the ultrasound soft indexes showed that NB deletion or dysplasia was a risk factor for fetal chromosome abnormality(P < 0.05).Other ultrasound soft indexes,such as SUA,NT thickening,CPC,SUA,APD widening,HB,EICF,FL short and ARSA,had little correlation with fetal chromosome(P > 0.05).5.Score values were assigned to all cases according to the preset score,and there was a significant difference in the detection rate of fetal chromosome abnormalities between score < 2(group E 1)and score ≥2(group E2)(P < 0.05).Conclusion(s): 1.In this study,the high risk factors for detecting chromosomal abnormalities include serological high risk,ultrasonic factors,advanced maternal age,and medical history.Serological high risk was the first,followed by ultrasonic factors,advanced maternal age and medical history.In the statistical combination of four factors,the combination of serological high risk and ultrasonic factors takes the first place.2.I In this study,pregnant women <35 years old all chose sheep wear for other risk factors.Pregnant women 35 to 40 years old and ≥40 years old with high risk factors had significantly higher risk of chromosome abnormalities than those without high risk factors;The positive detection rate of ≥40 years old was higher than that of 35-40 years old,but there was no difference between the two.3.In this study,there was no difference in the correlation between pure ultrasound soft indicators and chromosomal abnormalities at each age,so the age factor did not increase the detection of chromosomal abnormalities by ultrasound soft indicators.4、In this study,the sequence of chromosome abnormalities detected by single USMs under 35 years old was ranked as NB deletion or dysplasia.Isolated SUA,NT thickening,CPC,SUA,APD,HB,EICF,FL short,and ARSA were not associated with chromosomes.5.In this study,the fetal chromosome abnormality in the population with score ≥2was significantly higher than that in the population with score < 2,suggesting that AC examination should be performed directly with score ≥2.6.According to this study,we recommend prenatal screening for pregnant women aged <35 with NIPT;NIPS can be performed for prenatal screening in pregnant women aged 35-40 years,and AC testing is recommended for prenatal diagnosis of fetal chromosome abnormalities in pregnant women aged 35-40 years with other high risk factors or aged ≥40 years. |