The prenatal diagnosis for absence of fetal cavum septum pellucidum by ultrasonography / 中华医学超声杂志（电子版）

Objective To explore the clinical significance of prenatal diagnosis for absence of fetal cavum septum pellucidum (CSP) by ultrasonography. Methods The ultrasonographic characteristics were retrospectively analyzed in 63 fetuses, whose CSPs were not detected in prenatal two and three dimensional ultrasonography in Nanjing Medical University Affiliated Suzhou Hospital. Results In 63 fetuses with absent CSP, the related malformations included:(1) Five cases were diagnosed as agenesis of corpus callosum (ACC, including four complete ACC and one partial ACC);(2) Twenty-seven cases were diagnosed as holoprosencephaly (HPE, including 18 alobar HPE, ifve semilobar HPE and four lobar HPE);(3) One case was diagnosed as schizencephaly;(4) Two cases were diagnosed as porencephaly;(5) Five cases were diagnosed as hydranencephaly;(6) Twenty-three cases were diagnosed as severe hydrocephalus, among which ifve cases were caused by aqueductal stenosis and the other 18 cases were caused by open spina biifda (Chiari Ⅱ malformation). These absent CSP fetuses had other abnormalities including one case of Dandy-Walker Malformation, one case of Dandy-Walker Variation, 14 cases of median cleft lip, ifve cases of single naris, two cases of proboscis nose, three cases of talipes foot and four cases of single umbilical artery, etc. These 63 cases were all followed up after prenatal ultrasonography but 4 cases were missed and one case of septo-optic dysplasia was misdiagnosed as lobar HPE. The diagnoses of other 58 fetuses by ultrasonography were conifrmed by follow up. Conclusions CSP is considered as an essential part in prenatal evaluations of the fetal central nervous system during second-and third-trimester. Absence of CSP is always accompanied with an extremely wide spectrum of fetal neuroanatomic malformations, including prosencephalon diseases, intracranial midline anomalies, etc. Prenatal ultrasonography is the best choice for the observation of CSP.

The application of fetal echocardiography in prenatal diagnosis of total anomalous pulmonary venous connection / 中华医学超声杂志（电子版）

Objective To investigate the echocardiographic features and clinical significance of prenatal diagnosis of total anomalous pulmonary venous connection (TAPVC). Methods Fetal echocardiographic images of 13 fetuses with TAPVC conifrmed by pathology or postnatal echocardiography were reviewed. Echocardiographic features and clinical signiifcance of prenatal diagnosis of TAPVC were summarized. Results Twelve fetuses with TAPVC were diagnosed prenatally by fetal echocardiography, including seven cases of supracardiac type, three cases of infracardiac type and two cases of intracardiac type. The common echocardiographic characteristics of 12 fetuses with TAPVC included slightly size discrepancy of left heart and right heart, large foramen ovale with increased shunting at the atrial level, increased distance between left atrium (LA) and descending aorta, absent insertions of pulmonary veins in the LA, presence of pulmonary venous conlfuence on the top of LA and dilatation of vessels where pulmonary venous conlfuence drained. One case was missed prenatally and intracardiac type TAPVC was diagnosed by postnatal echocardiography. Among the 13 cases, three were isolated and the other ten were all in association with other abnormalities. Conclusions There are fetal echocardiographic characteristics of TAPVC. Fetal echocardiography plays an important role in prenatal diagnosis of TAPVC.

Prenatal ultrasound of fetus with echogenic bowel and complicated structural abnormalities/chromosome abnormality / 中华医学超声杂志（电子版）

Objective To explore the prenatal ultrasonographic features of fetuses diagnosed as echogenic bowel and chromosomal abnormalities. Methods From September 2009 to June 2013, eighty cases diagnosed as echogenic bowel by prenatal ultrasound screening in our hospitals underwent chromosomal karyotype analysis and were followed up till fetal birth. The prenatal ultrasonographic features were carefully correlated with the postnatal findings. Results Prenatal ultrasoundand chromosomal findings of the 80 cases were:(1) Fifty-eight cases of fetuses with echogenic bowel alone (72.5%, 58/80, without chromosomal karyotype abnormalities). (2) Eleven cases of fetuses with additional ultrasound soft markers (13.8%, 11/80, without chromosomal karyotype abnormalities). The ultrasound examination revealed 8 cases of choroid plexus cysts, 1 case of single umbilical artery, 1 case of shorter nasal bone, and 1 case of echogenic intracardiac focus. (3) Five cases of fetuses with severe functional abnormalities or complex structural malformations and normal chromosomal karyotype. The ultrasound examination revealed 3 cases of structural cardiac malformations, 1 case of heart failure and 2 cases of central nervous system malformations. Of them,one case showed complex malformations (right ventricular dysplasia syndrome, cerebellar dysplasia and single umbilical artery), whereas the remaining 4 cases only involve single malformation. (4)Six cases had chromosomal abnormalities (7.5%, 6/80), including 3 cases of abnormal chromosome microdeletions, and 3 cases of abnormal chromosome numbers (1 21-trisomy syndrome, 1 18-trisomy syndrome, and 1 triploid syndrome). All of them had severe structural malformations and abnormal soft markers. The ultrasound examination revealed 2 cases of severe cardiac malformations, 2 cases of central nervous system malformations, 1 case of pericardial/peritoneal effusion, and 1 case of placental chorionic multiple hemangioma. One case of holoprosencephaly (donor of the twins) ended with intrauterine death. The associated abnormal soft markers include nuchal fold (NF) thickening, choroid plexus cysts, umbilical cord cysts, single umbilical artery, and placental chorionic hemangioma. Conclusions The fetuses with echogenic bowelaloneusualyhaveagoodprognosis.Insomecases,echogenicbowelmaydisappearduringvfolow-up.The fetuses complicated with severe structural malformations and chromosomal abnormalities have poor prognosis. For the fetuses diagnosed of echogenic bowel by prenatal ultrasound screening, systematic ultrasound examination should be carried out and clinical chromosomal karyotype analysis was suggested.

Ultrasonic diagnosis of thyroid microcarcinoma and analysis on reason for its misdiagnosis / 中华医学超声杂志（电子版）

Objective To analyze the ultrasonic features of thyroid microcarcinoma (TMC) and the causes of misdiagnosis. Methods The ultrasonic features including shape, margin, echogenecity, microcalcification, vascularity and lymphadenopathy were analyzed retrospectively in 26 pathologically-proven TMC patients. Results In 26 cases, 11 cases were diagnosed correctly before operation (11/26, 42.31%), 12 cases were misdiagnosed (12/26, 46.15%) as adenoma or benign nodule, and 3 cases were missed diagnosed (3/26, 11.54%). Among the 23 cases detected on ultrasound, 21 cases were solid and hypoechoic (21/23, 91.30%);19 cases were ill-defined (19/23, 82.61%);12 cases were taller than wide in shape (12/23, 52.17%); 14 cases had microcalcification (14/23, 60.87%); 7 cases showed central or peripheral blood flow signals (7/23,30.43%) with arterial resistance index>0.70 in 3 lesions and<0.70 in 4 lesions. Conclusions Several ultrasonographic features are helpful in identiifcation of TMC, including hypo/iso-echogenecity, ill-deifned margin, taller-than-wide shape, microcalciifcation, arterial signals with high resistance index, and abnormal lymphadenopathy. Moreover, for cases with multiple lesions, to the potential co-existence of benign and malignant lesions should be considered.

The clinical study of prenatal ultrasound screening of fetal nasal bone and nuchal translucency at 11 to 13 +6 weeks / 中华医学超声杂志（电子版）

Objective To evaluate the clinical significance of fetal nasal bone absence and thickened nuchal translucency ( NT) at 11-13 +6 weeks ultrasound screening .Methods A total of 4200 pregnant women with single fetus registered at Mother and Children ’ s Health Care Center in our hospital were examined at 11-13 +6 gestational weeks .Both fetal nasal bone and NT ultrasound evaluation were offered to assess whether nasal bone is absent and NT is thickened (>3.0 mm) in these cases.Particular attention was paid to the relationship between abnormal findings ,karyotype and pregnancy outcome .Results In all, 3492/4200 cases were included in the study with both NT measurement and nasal bone evaluation .Seven hundred and night cases were excluded because of unavailable clinical outcome .Among 3492 fetuses:(1) There were 3 cases absent of nasal bone .Among the 3 cases without nasal bone , 2 cases ( 1 case combined with thickened NT ) were trisomy 21(66.7%,2/3).(2) There were 351 cases with NT>3.0 mm (10.1%,351/3492).Among the 351 cases with thickened NT,there were 4 with trisomy 21 syndromes (1.14%,4/351,1 case combined with nasal bone absence ),1 with trisomy 18 syndrome,1 with Turner syndrome,6 with structural anomalies but normal karyotype (1.71%,6/351).(3)Among the 3139 cases with normal nasal bone and NT ,there were 8 cases with chromosomal or structural anomalies .Conclusions Absent nasal bone and thickened NT are important markers of trisomy 21 in the first trimester ultrasound screening .Thickened NT has significant correlation with other fetal chromosomal and structural anomalies .

Prenatal diagnosis and typing of fetal cystic adenomatoid malformation of the lung by ultrasound / 中华医学超声杂志（电子版）

Objective To explore the clinical value and typing characteristic of prenatal ultrasonography for fetal cystic adenomatoid malformation of the lung(CAML).Methods Ultrasonographic features and typing of fetal CAML in 41 cases detected by prenatal ultrasonography were analyzed retrospectively.All cases were followed up until to the induction of labor or birth.Results (1)Site of tumor: in the 41 cases,there were 22 cases on the left side,15 on the right side and 4 on bilateral.(2)Typing diagnosis of prenatal ultrasonography: three cases were CAML type Ⅰ,14 were type Ⅱ,and 24 cases were type Ⅲ.(3)Pathology diagnosis: thirty two cases were induced abortion.CAML was confirmed in 29 cases by autopsy and the classifications were consistent with the prenatal diagnosis of ultrasonography.Three pulmonary sequestration cases were prenatally misdiagnosed as CAML type Ⅲ by ultrasonography.(4)The other nine cases were followed up to birth.Three masses decreased gradually and then disappeared.Six newborns were confirmed as CAML by CT.Their typings were consistent with the postnatal diagnosis.(5)The diagnostic accuracy rate of prenatal ultrasonography for CAML was 92.7%(38/41).Its misdiagnostic rate was 7.3%(3/41).Conclusions Prenatal ultrasonography has a high accuracy rate for the diagnosis and classification of CAML and is the first choice to detect CAML early in pregnancy.It has an important clinical value.Pulmonary sequestration should be distinguished from CAML type Ⅲ because they tend to be confused.