Objective To investigate the methodology and feasibility of an anatomic survey of fetal limbs in the first trimester. Methods In this study, 533 normal fetus and 6 fetal corpse without limb abnormalities form June 2011 to August 2012 underwent an anatomic survey on the limbs in our consultation center. The limbs were scanned using a systematic continuous sequence approach:(1) Displaying upper arm and humerus, forearms and radius/ulna, hands in proximal to distal direction. (2) The thigh and femur, crus and tibia/fibula, feet was attempted from the sagittal section of each structure. (3) If the whole limb couldn′t be visualized in a section then the three segments will be demonstrated respectively. The position and move-ment also should be observed during the scan. Data were collected regarding gestation age, examining time and the structures. Results The limbs except toes of 533 normal fetus were clearly observed, which was completely unaffected by gestational age, with the mean time of scanning is 98.6±37.4 s (rang:36-189 s). The structures (including upper arms and humerus, forearms ,radius and ulna, hands, thigh and femur, crus and tibia, fibula, feet) of fetal limbs were clearly observed on the 6 fetal corpse, but the ossification center of fingers were steadily visualized until 13 weeks and toes after 13 weeks. Conclusions Scanning fetal limbs in the first trimester were feasible by a systematic continuous sequence approach in a short period of time.

Objective To explore the value of prenatal diagnosis and sonographic features of Joubert syndrome and related disease (JSRD). Methods From April 2013 to August 2013, a fetal suspected hydrocephaly and the child of the same family were studied in Southern Medical University Afifliated Shenzhen Maternity&Child Healthcare Hospital. The fetal underwent ultrasonographic imaging, magnetic resonance imaging, genetic test and autopsy. The propositus underwent magnetic resonance imaging, genetic test and clinical test. The magnetic resonance imaging and ultrasonographic imaging features of the JSRD were analysed. Results (1) Ultrasound results:′cleft sign′was detected because of the fetus cerebellar vermis dysplasia. The width of left ventricle was 2.3 cm. (2) MRI results:Both the fetal and the propositus showed′molar tooth sign′and′cleft sign′. (3) Genetic test results:Both of them had the mutations of CC2D2A gene at chromosome 4p15.32. (4) Fetal autopsy results:fetal cerebellar vermis hypoplasia and cerebellar hemispheres moved closer to the midline. (5) Clinical test result:the propositus had poor audio-visual reaction, looked instability, poor head-eye coordination, upper eyelid lifting fatigue, mental retardation and ataxia. His mouth crooked when he was crying. (6) The electroencephalogram results:the EEG with abnormal 3-4 Hz coming from occipital cortex showed poor sleep background. Frontal area launched sharp wave frequently. It was more obvious on the right area. Conclusions It is easy to diagnose JSRD according to the′molar tooth sign′,′cleft sign′,′bat wing sign′and the clinical features. The′molar tooth sign′on prenatal MRI may prompt JSRD risk, but it is not speciifc. Prenatal ultrasonographic features of cerebellar vermis hypogenesis provide some clues for the diagnosis.

Objective To discuss the prenatal ultrasound manifestations of Apert syndrome. Methods The prenatal ultrasound features of 4 fetuses identified as Apert syndrome after detailed antenatal ultrasound examinations between January, 2010 to Februry, 2014 in our hospital were analyzed. The ultrasound images and postnatal outcome or autopsy were compared to analysis the sonographic features of Apert syndrome in prenatal. Results The prenatal ultrasound characteristics and pregnant outcome of the 4 fetuses were showed as followings:(1) Skull deformity:4 fetuses were all appeared as acrocephaly, coronal suture premature close and frontal protrusion, while 3 cases (case 1-3) had“clover leaf skull deformity”features. (2) Midfacial malformation deformity:3 cases (case 1-3) were all with hypertelorism and mid-sagittal facial proifle abnormal and only 1 case (case 2) had nose hypoplasia. (3) Limbs abnormal:4 cases were all appeared as bilateral symmetry syndactyly of hands and 1 case (case 2) was diagnosed as bilateral symmetry syndactyly of feet. (4) Associated abnormality:persistent right umbilical vein in 1 case (case1), thoracic spine stenosis in 1 case (case 2), hyperechogenic renal parenchyma in 1 case (case 3) and left-diaphragmatic hernia in 1 case (case 4). (5) The pregnant outcome:3 cases underwent pregnancy termination and 1 case was labored at term. The 3 cases (case1-3) were diagnosed as bilateral symmetry syndactyly of feet after induced labor. The cleft palate and bilateral symmetry syndactyly of feet were misdiagnosed in the full-time infant (case 3), who was died two days after birth. Conclusions The Apert syndrome is a rare syndrome. It generally has typical characteristic of prenatal ultrasound, such as coronal suture premature close, acrocephaly, mid-sagittal facial profile abnormal and bilateral symmetry syndactyly of hands and feet. Prenatal diagnosis of Apert syndrome can play an important role in genetic counseling and postnatal treatment.

ObjectiveTo analyze the prenatal sonographic features of facial anomalies and evaluate the relationship between facial anomalies and increased nuchal translucency.MethodsPregnant women coming to Shenzhen Maternity and Child Healthcare Hospital afifliated to Nanfang Medical University between October 2008 and December 2012 for the 11th-13th+6 gestational week scanning were included in this study. Fetal facial region was evaluated by the technique of cross-sectional view of the fetal lateral ventricle with probe tilting. Comparative analysis was performed on autopsy and prenatal ultrasonograpgy. ResultsThe prenatal ultrasonic results of 10 518 fetus: 10 343 fetus (98.3%, 10 343/10 518) were conifrmed as facial normal with the technique of cross-sectional view of the fetal lateral ventricle with probe tilting at the ifrst trimester. Twenty-eight cases of facial malformation were conifrmed at the ifrst trimester (8 cases of cleft lip/plate, 14 cases of absence of nasal bone, 5 cases of holoprosencephaly facial feature and 1 cases of irregular facial cleft). Forty-nine cases of facial malformation were conifrmed by postnatal evaluation or autopsy (the incidence was 0.47%, 49/10 518 ). Twenty-one cases were misdiagnosed (11 cases of cleft lip/plate, 7 cases of ear deformity, 2 cases of micrognathia and 1 cases of irregular facial cleft). Ultrasonic soft marker: 34 cases were combined with abnormal soft marker (69.4%, 34/49), 22 cases of various kinds of facial malformation were combined with other structural deformity. Twenty-three cases were combined with increased nuchal translucency. Fourteen cases of absence of nasal bone were detected in the ifrst trimester, including twelve cases of increased nuchal translucency, six cases of structural deformity, two cases of chromosomal abnormalities (21-trisomy). Five cases of holoprosencephaly facial feature were detected in the first trimester, including three cases of increased nuchal translucency and structural deformity. Eight cases of cleft lip/plate were detected in the ifrst trimester, including ifve cases of increased nuchal translucency. One cases of irregular facial cleft were detected in the ifrst trimester, who was combined with structural deformity and increased nuchal translucency. Postpartum examination showed: there were 25 cases of simple facial anomaly, 22 cases were combined with structural deformity (9 cases of cardiac defect and 8 cases of holoprosencephaly), there were 2 cases of chromsomal abnormalities. The results showed that increased nuchal translucency had certain relationship with facial anomaly. The value of nuchal translucency of facial anomalies fetus was apparently higher than that of normal fetus and fetus with simply facial anomalies. There was no signiifcant difference between normal fetus and fetus with simply facial anomalies.ConclusionsFindings of holoprosencephaly and cardiac defects is a signiifcant clue for diagnosing facial anomalies. Fetuses with cleft palate/lip have an abnormal conifguration of the retronasal triangle. Cross-sectional view of the fetal lateral ventricle with probe tilting caudal slightly technique is an important method to screen fetal facial malformation in the ifrst trimester.

Objective To study the ultrasonographic clues and methods for fetal anomalies of the aorta arch and improve prenatal detection of anomalies of the aorta arch.Methods One thousand four hundred and seventy-two cases fetus who were carried out detailed scan and whose results were confirmed were chose as study objects.Every routine fetal echocardiography included four chamber and left and right outflow tract and three-vessel trachea view(3VT).The more views which included longitudinal and coronary view of the aorta arch and coronary view of the trachea and main bronchus were obtained when the abnormality of aorta arch was suspected.Results One hundred and forty-eight cases with anomalies of aorta arch were diagnosed by ultrasonography.One case was misdiagnosed.Ninety-two fetus with anomalies of aorta arch which included 28 aortic coarctation(CoA) and 10 interrupted aortic arch (IAA) and 52 right-side aortic arch and abnormal aortic branch and 2 double aortic arch were confirmed by postmortem or postnatal echocardiography and surgery.Of the 92 confirmed cases,24 had prenatally diagnosed additional complex intracardiac anomalies.All cases with CoA and IAA presented ventricular and/or great arterial disproportion with smaller left ventricle and aorta diameter on four chamber view and 3VT.Right aortic arch (RAA) and abnormal aortic branch(AAB) displayed aortic arch located on the right side of the trachea and increased distance between the aortic arch and arterial duct and abnormal aortic arch branch-subclavian artery originating from the beginning section of the descend aorta which coursed behind the trachea with U-shaped appearance on the 3VT plane.The display rate of the transverse and longitudinal and coronary view of the aorta arch was 98.4%,90.0%,81.9%,respectively.Conclusions Disproportional ventricular and /or great arterial with smaller left ventricle and aorta diameter are the clues for CoA and IAA.Increased distance between the aortic arch and arterial duct is the clue for RSA.The transverse view of the aortic arch 3VT is the most sensitive for detecting the anomalies of the aortic arch and the most easily be obtained.The longitudinal and coronary view of the aorta arch and coronary view of the trachea and main bronchus are helpful in differentiating the anomalies of the aortic arch.

Objective To research fetal optic nerve,optic chiasma and optic tract size using high resolution prenatal ultrasound,establish a scan method and the reference range of optic nerve,optic chiasma and optic tract in normal fetus.Methods Based on the section of circulus arteriosus cerebri,the probe were rotated to get the chiasma section for measuring the diameter of bilateral optic nerve,optic tract and area of optic chiasma in 453 normal fetus respectively.Used gestation age and corresponding biological parameters as independent variables,the regression equation was established analyse the gender differences.Results 26-33 weeks was the preferable gestational age to visualize the chiasma section.It had good repeatability except chiasma area.The bilateral optic nerve and optic tract diameter,optic chiasma diameter and area had an increased along with the gestational age reposefully.There was no significant difference between the two sides of optic nerve and the gender.Conclusions Prenatal ultrasound can assess the size and shape of fetal optic nerve,optic chiasma and optic tract.The normal reference range,established by ultrasound,is helpful to diagnose the abnormality of optic chiasma.

Objective To evaluate the development of cerebral sulci and gyrus in fetuses with conotruncal defect(CTD) at the second and third trimester by ultrasound,and to improve clinician′s understanding of the cerebral cortical development in fetuses with CTD.Methods The study was conducted at Shenzhen Maternity and Child Healthcare Hospital Affiliated to Southern Medicial University from December 2015 to January 2017,enrolled 180 women with single fetus,among whom 60 fetuses with CTD and gestational age between 20 weeks to 33+6 weeks were diagnosed by echocardiographic examination.CTD included persistent truncus arteriosous,tetralogy of fallot,transpofition of the great arteries and double outlet of right ventricle.Evaluation indexes of cerebral sulci and gyrus included depth and angle of parietooccipital sulcus,width and depth of sylvian fissure,uncovered width of insular,uncovered insular ratio,depth of calcarine sulcus,head circumference;evaluation indexes of hemodynamics included umbilical artery resistance index,umbilical artery pulsation index,middle cerebral artery resistance index,middle cerebral artery pulsation index,the cerebral-to-placental resistance ratio and the cerebroplacental pulsation ratio.Above indexes were measured for statistical analysis.Results At the whole gestational age in the study,depth of parietooccipital sulcus and width of sylvian fissure in CTD fetuses were smaller than those in the control group,uncovered insular ratio was larger than that in the normal group(P<0.05);middle cerebral artery resistance index,middle cerebral artery pulsation index and the cerebroplacental pulsation ratio in CTD fetuses were lower than those of the control group (P<0.05).Conclusions The change of hemodynamics in fetuses with CTD may be one of the reasons that fetuses with CTD have cerebral cortical hypoevolutism.

Objective To study the ultrasonic features and outcomes of VACTERL association fetuses. Methods From Jan 2003 to Sep 2013 in Shenzhen Maternity&Child Healthcare Hospital there were 55 fetuses diagnosed as VACTERL association, the prenatal ultrasonographic characteristics and outcomes were summarized. Results Ultrasonography showed that the incidence of 6 VACTERL association anomalies were:vertebral defects were 45.5%(25/55), anal atresia were 30.9%(46/55), cardiac malformations were 81.8%(45/55), tracheoesophageal ifstula/esophageal atresia were 32.7%(18/55), renal anomalies were 60.0%(33/55) and limb anomalies were 83.6%(17/55). All the 55 fetuses had 3 or more VACTERL association malformations and the characteristic ultrasonic features were as follows:(1) There were 39 cases (70.9%, 39/55) co-occur with three VACTERL malformations, the more common malformations were limb anomalies (33/39), cardiac malformations (31/39) and renal anomalies (21/39). (2) There were 13 cases (23.6%, 13/55) co-occur with four VACTERL malformations, the more common malformations were cardiac malformations (11/13), limb anomalies(10/13), renal anomalies (9/13) and tracheoesophageal ifstula/esophageal (8/13). (3) There were 3 cases (5.5%, 3/55) co-occur with ifve VACTERL malformations, they were all with anal atresia, cardiac malformations, renal anomalies and limb anomalies (3/3), and two were co-occur with vertebral defects (2/3). (4) No fetus co-occur with six VACTERL malformations. There were 29 cases (52.7%, 29/55) co-occur with other malformations, of which 21 cases (38.2%, 21/55) with single umbilical artery. All the 55 cases underwent labor induction. The results of postmortem appearance of 55 cases and autopsies of 9 cases were all consistent with prenatal ultrasound scan. Conclusions Fetuses with VACTERL association had characteristic prenatal ultrasound imaging, multiple malformations can be found and limb anomalies, cardiac malformations and renal anomalies are more common. Scanning the fetal structures from higher incidence to lower incidence of VACTERL association can be helpful to improve the diagnostic coincidence rate of VACTERL association. Prenatal ultrasound diagnosis of VACTERL association can provide guidance for clinical obstetrical management.

Objective To summarize and analyze prenatal ultrasound and postnatal autopsy ifndings in fetuses with urorectal septum malformation sequence (URSMS). Methods An analysis of prenatal ultrsound ifndings and postnatal autopsy features was performed on eleven cases of fetuses with URSMS that were identiifed by ultrasonography at Shenzhen Maternity&Child Healthcare Hospital in the period of January 2003 to December 2012. Results Prenatal ultrasonography showed a large abdominal cystic mass concomitant with imperforate anus in eleven fetuses with URSMS. The cyst contained unilocular or bilocular cystic structures in two fetuses, and trilocular cystic structures in nine fetuses. The cyst was demonstrated as clear acoustic transmission in three fetuses and unclear in eight fetuses. Out of them, seven fetuses had kidney abnormalities, six had ascites, and three had enterolithiasis. The associated systemic abnormalities included tethered cord in two fetuses, single umbilical artery in two fetuses, sacrococcygeal dysplasia in one fetus, and myocardial noncompaction in one fetus. 21-trisomy was found in one fetus by chromosome examination. Eleven cases were all identiifed as female fetuses by autopsy ifndings, including a single perineal opening and ambiguous genitalia with clitoral hypertrophy and labial fusion. The internal genital abnormalities included double vagina or longitudinal vaginal septum in nine fetuses, double uterus or uterus bicornis in ten fetuses and vaginal dysplasia in one fetus. Conclusions URSMS is a complex congenital malformation, which includes abnormalities of the urinary system, reproductive system and gastrointestinal track. An abdominal cystic mass visualized by prenatal ultrasonography might be the distinctive lesion in female with URSMS, and have an important diagnostic value. The kidney abnormalities and ambiguous genitalia can contribute to the diagnosis of URSMS.

ObjectiveTo summarize prenatal ultrasound image features of Cantrell′s syndrome (Cantrell′s pentalogy).MethodsFrom January 2007 to December 2013 in Shenzhen Maternity & Child Healthcare Hospital, there were twenty cases diagnosed and conifrmed by postmortem as Cantrell′s syndrome. The prenatal ultrasound image features and outcomes were analyzed.ResultsAmong the twenty cases, eighteen were singleton and two were twins with the other normal fetus. Prenatal ultrasound image: two obvious ultrasound image features of ectopic heart and hight omphalocele (seventeen cases) or gastroschisis (three cases) were appeared in prenatal ultrasound of twenty cases. Fourteen cases were complete ectopic heart (Ectopic heart was located within the omphalocele in one case, ectopic heart was completely exposed in amniotic lfuid in thirteen cases), six cases were incomplete ectopic heart, three cases were ventricular septal defect in which one was associated with pulmonary stenosis, two cases were single atrium and single ventricle in which one was associated with a single arterial trunk, one case was tetralogy of Fallot, and six cases were without signiifcant heart abnormalities. Associated with other abnormalities: seventeen cases were associated with other abnormalities in twenty cases, in which eleven cases were spinal abnormalities, nine cases were umbilical cord abnormalities (short umbilical cord in six cases, single umbilical artery in two cases, short umbilical cord associated with single umbilical artery in one case), ifve cases were neurological abnormalities (exencephalia in four cases, encephalocele in one case), four cases were limb abnormalities, three cases were cheilopalatognathus, one case was giant bladder. Three cases weren′t associated with other abnormalities. Nuchal Translucency: in eight cases, nuchal translucency were measured in early pregnancy. Nuchal translucency of ifve cases were thick, one case was cervical hygroma in one of the two twins. Chromosome examination results: only three cases had chromosome examination in twenty cases, in which one case was trisomy 21, another two were chromosome normal. Fetal outcome and examination results: in twenty cases, one of the two twins can′t survive after birth, and the other one of two twins was reduced in intrauterine, so the specimen could not be obtained. Eighteen cases of singleton underwent labor induction. The results of postmortem appearance (nineteen cases) and autopsies (ifve cases) were all consistent with prenatal ultrasound scan.ConclusionsEctopic heart and hight omphalocele or gastroschisis appearing at the same time was the characteristic of Cantrell′s syndrome in prenatal ultrasound and other abnormalities may be part of the Cantrell′s syndrome spectrum. It is beneift to detect and diagnose Cantrell′s syndrome by prenatal ultrasound in the ifrst trimester.