Objective To sum up CT findings of sacroiliac joints in ankylosing spondylitis with an attempt at further improving early and even accurate diagnosis of the disease.Methods CT features of sacroiliac joints in 80 cases with anklyosing spondylitis proved clinically were analysed,and their application in making the diagnosis was evaluated.Results 73 of the 80 cases had abnormal CT findings of the joints,with different features according to different stages of the disease.In early stage,most cases were with symmetric involvement of the joints showing shaggy appearance of the articular surface with interruption or disappearance of the joint cortex,subcortical microcysts and mild sclerosis of iliac surface of joint .In advanced stage,cases were with irregularity of sacroiliac articular surfaces,showing serrated or brush-like appearance,subcortical systic destruction,sclerosis or hypertrophic changes around the joints,and pseudo-widening,irregular narrowing or even vacuumization of the joint space.In the late or stable stage,ossification of ligaments,bony ankylosis of the joints with obliteration of joint space and osteoporosis or osteosclerosis were seen.Conclusion CT study of sacroiliac joints could be helpful in making an early and even accurate diagnosis of ankylosing spondylitis as well as in clinical staging of the disease.

OBJECTIVE: To explore whether it is necessary to choose NIPT-plus for the prenatal screening of pregnant women. METHODS: The results of NIPT and NIPT-plus sequencing data, fetal DNA concentration, prenatal diagnosis and pregnancy outcome of 50 pregnant women were compared. RESULTS: Compared with NIPT, NIPT-plus attained similar fetal DNA concentration and a 4.4-fold increase in sequencing data. NIPT was able to detect 4 cases of 21-trisomy, 2 cases of 18-trisomy, and 9 cases of sex chromosome aneuploidies (SCAs) signaled by NIPT-plus, but missed one 18-trisomy, and failed to detect rare chromosome aneuploidies (RCAs) and microdeletion/microduplication syndromes (MMS). The PPVs of NIPT-plus for 21-trisomy, 18-trisomy, SCAs, MMS and RCAs were 100%, 100%, 44.4%, 30.4% and 0%, respectively. And those of NIPT for 21-trisomy, 18-trisomy, and SCAs were 100%, 100%, and 44.4%, respectively. CONCLUSION It is necessary for pregnant women to select NIPT-plus to improve the detection rate of common trisomies, SCAs and disease-specific MMS, therefore reduce the occurrene of birth defect.
Aneuploidy ; Female ; Humans ; Pregnancy ; Pregnant Women ; Prenatal Diagnosis ; Trisomy ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome

OBJECTIVE: To assess the value of non-invasive prenatal testing (NIPT) for the detection of fetal chromosomal aneuploidies in women with twin pregnancy. METHODS: A total of 2473 women with twin pregnancy underwent the NIPT test to assess the risk for fetal chromosomal aneuploidies from January 2016 to September 2019. Those with a high risk by NIPT were confirmed by amniocentesis or chorionic villus sampling. All cases were followed up to evaluate the positive prediction value of NIPT for twin pregnancies. RESULTS: Among the 2473 women, the NIPT test has identified 31 cases (1.25%) with a high risk for fetal chromosomal aneuploidies, which included 5 cases of trisomy 21, 1 case of chromosome 21 deletion, 4 cases of trisomy 18, 7 cases of sex chromosome abnormality and 14 cases of microdeletion and microduplication. By invasive prenatal diagnosis or chromosomal karyotyping analysis of neonates, 5 cases of trisomy 21, 3 cases of trisomy 18, 1 case of sex chromosome abnormality, and 2 cases of microdeletion and microduplication were confirmed, which yielded a positive predictive value of 100%, 75%, 25% and 25%, respectively. CONCLUSION NIPT can be used for the screening of fetal chromosomal aneuploidies in women with twin pregnancy with high accuracy. The method is non-invasive, safe and effective for the screening of fetal chromosomal aneuploidies, in particular trisomy 21.
Aneuploidy ; Chromosome Disorders ; Female ; Humans ; Infant, Newborn ; Pregnancy ; Pregnancy, Twin ; Prenatal Diagnosis ; Trisomy ; Trisomy 13 Syndrome ; Trisomy 18 Syndrome