ABSTRACT
The aim of this study was to investigate the value of chromosomal microarray analysis (CMA) for the prenatal diagnosis of orofacial clefts.A total of 143 fetuses with oral clefts were detected by ultrasound during prenatal exam between 2012 and 2017 in our center. We categorized the cases into 4 groups: isolated cleft lip (CL) (CL only), isolated cleft palate (CP only), isolated cleft lip and palate (CLP) (CLP only), and syndromic CLP (combined with other malformations). The CMA was performed in all cases, while 139 fetuses were referred for G-banded chromosome analysis.There were 42 male and 10 female fetuses were born, with a sex ratio of 4.2:1. The isolated CLP group accounted for 74.1% (106/143) of cases, while the isolated CL, isolated CP, and syndromic CP groups accounted for 13.9% (20/143), 2% (3/143), and 10% (14/143), respectively. A total of 11 fetuses had pathogenic copy number variants (CNVs, 7.7%), including isolated CP (1/143, 0.7%), isolated CLP (5/143, 3.5%), and syndromic CLP (5/143, 3.5%). Compared with the CMA results, 5 fetuses were found to have an abnormal karyotype (5/139, 3.6%). However, no abnormalities were found in either karyotype analysis or CMA in the isolated CL group.CMA is a valuable tool for identifying submicroscopic chromosomal abnormalities in the prenatal diagnosis of oral clefts. An excellent outcome can be expected for fetuses with isolated CL that are negative for chromosomal abnormalities.
Subject(s)
Chromosome Disorders/diagnosis , Cleft Lip/diagnosis , Cleft Palate/diagnosis , Microarray Analysis/methods , China , Chromosome Aberrations , Chromosome Disorders/genetics , Cleft Lip/genetics , Cleft Palate/genetics , DNA Copy Number Variations , Female , Fetus , Humans , Infant, Newborn , Karyotyping , Male , Pregnancy , Prenatal DiagnosisABSTRACT
Objective To investigate the features of CT perfusion (CTP) parameters of adrenal adenoma (AA) using wide detector CT.Methods The wide detector CT scanning data of 21 patients with pathologically confirmed AA were retrospectively analyzed.CT perfusion (CTP) imaging was performed with the axis mode covering by 16 cm detector and ASiR-V50％.The image acquisition of CTP was performed after 6 s of injection of contrast media.Totally 26 consecutive volume acquisitions were contained.The arterial,venous and delayed phase images were obtained at the time of 22 s,51 s and 153 s after the injection,respectively.The blood flow (BF),blood volume (BV),mean transit time (MTT),time to peak (TP) and permeability of surface (PS) values of AA (group A) and contralateral normal adrenal gland (group B) were measured.All parameters between the two groups were compared,and the radiation dose was assessed.ROC curves were used to assess the diagnostic efficiency of CT perfusion parameters for AA.Results BV,MTT and PS values of group A were statistically lower than those of group B (all P＜0.05).There was no statistical difference of BF and TP values between the two groups (both P＞0.05).The area under the ROC curve (AUC) of BV,MTT and PS was 0.780,0.762 and 0.831,respectively.The sensitivity and specificity of diagnosis of AA was 95.2％ and 81.0％,respectively,when the threshold of PS was 1.37 ml/(100g · min).The effective dose (ED) of CT plain and CTP (including three-phase enhanced scan) were (3.20 ± 0.57) mSv and (19.98 ± 1.95) mSv.Conclusion Wide detector CT perfusion imaging can provide high-quality conventional three-phase enhanced images for diagnosis of AA,and provide effective quantitative perfusion data at the same time.PS value shows strong capability for diagnosis of AA.
