High-throughput sequencing combined with chromosome karyotype detection for screeningfetal developmental malformations in pregnant woman in elder age
Zhao Xuliang, Zhang Man, Tian Ruixia,et al
1. Department of Examination, 901th Hospital of Joint Logistics Support Force, Chinese People's Liberation Army, Anhui, Hefei 230031,China; 2. Department of Obstetrics and Gynecology, 901th Hospital of Joint Logistics Support Force, ChinesePeople's Liberation Army, Anhui, Hefei 230031, China
Abstract: 【Abstract】 Objective To analyze the screening efficacy of high-throughput sequencing combined with chromosome karyotype detection for fetal developmental malformations in elderly pregnant women. Methods The clinical data of 102 elderly pregnant women with risk factors of fetal malformation in the 901th Hospital of Joint Logistics Support Force, Chinese People's Liberation Army were retrospectively analyzed. All of them received high-throughput sequencing and chromosome karyotype examination, and the results were discussed. Four grids were used to record the detection results and evaluate the value of different screening methods for fetal developmental malformations in elderly pregnant women. The positive and negative predictive values ofsensitivity, specificity and accuracy were counted. Results There were 104 fetuses in 102 pregnant women, among of them, there were 41 fetal malformations, accounting for 39.4% (41/104). 10 cases were multiplemalformations, accounting for 24.4% (10/41). Single heart malformations of 31 cases of single malformation accounted for 16.1% (5/31). Single central nervous system malformation was 16.1% (5/31). Single urinary malformations accounted for 12.9% (4/31). Single digestive malformations accounted for 19.4% (6/31). Single spinal deformity accounted for 9.7% (3/31). Single limb deformity accounted for 16.1% (5/31). Single facial deformity accounted for 3.2% (1/31). Single neck water sac tumor accounted for 3.2% (1/31). Single omphalocele accounted for 3.2% (1/31). High-throughput sequencing combined with chromosome karyotype
detection screened 38 cases of fetal malformation in elder pregnant women and 54 cases of true negative. The sensitivity, accuracy and negative predictive value of joint detection were 92.7%, 88.5% and 94.7%, respectively, which were higher than those of single detection (75.6%, 82.7% and 84.6% ) of high-throughput sequencing, (70.7%, 81.7% and 82.4% )of chromosome karyotype detection. The specificity and positive predictive value of joint detection were 85.7% and 80.9% respectively, which were similar to those of single detection. Conclusion The risk of fetal malformations is high in elder pregnant women, and high-throughput sequencing combined with chromosome karyotype detection has high screening efficiency for them
2021, Vol. 9 
