Objective:To summarize the prenatal sonographic characteristics of affected joints of fetal arthrogryposis multiplex congenita (AMC) by comparing the ultrasonographic features and the postnatal pathological manifestations.Methods:The cases of AMC detected by antenatal ultrasound and confirmed by postnatal pathology were collected in the First Affiliated Hospital of Sun Yat-Sen University and Kaiping Central Hospital from January 2015 to June 2020. The differences between prenatal ultrasonic manifestations, types of affected joints and postnatal pathological features were analyzed. And the different involvements of joints in AMC cases with or without other system abnormalities were also explored separately.Results:A total of 31 cases of AMC were included, in which 11 cases were with other system abnormalities and 20 cases without. No significant difference was observed in number of affected joints between these two groups ( P>0.05). The prenatal sonogram features were completely consistent with the postnatal pathological manifestations in 21 (21/31, 67.7%) cases. Among 31 cases, the involvement rates of joints were: interphalangeal joints of fingers (23/31, 74.2%), knee joints (20/31, 64.5%) and ankle joints (19/31, 61.3%), temporomandibular joint (11/31, 35.5%), wrists (11/31, 35.5%), elbow joints (10/31, 32.3%), interphalangeal joints of toes (6/31, 19.4%), spinal joints (2/31, 6.5%), shoulder joint (1/31, 3.2%) and hip joint (1/31, 3.2%), respectively. The coincidence rates of prenatal ultrasound in involved joints were: interphalangeal joints of fingers (100%), ankles (100%), spines (100%), hips (100%), wrists (90.9%), knees (75.0%), elbows (70.0%), jaws (54.5%), interphalangeal joints of toes (50.0%), and shoulders (0), respectively. Conclusions:When postural abnormalities of fetal upper and lower extremities are detected by prenatal ultrasound screening, especially overlapping fingers, extended knee and club foot, AMC should be kept on alert. Simultaneously, other joints should be carefully scanned to improve the prenatal detection rate of AMC.

Objective To analyze the ultrasonic features ,associated malformations and combined genetic abnormalities of microphthalmia . Methods The characteristics of 15 cases of fetal microphthalmia were retrospectively analyzed . And the proportion of fetal microphthalmia associated malformations were further assessed according to the different organ system . Results All the orbital diameters of affected eyes of the 15 cases were less than the 5th centile of normal fetal orbital diameter corresponding to gestational age . In which ,26 .67% ( 4/15 ) fetuses had additional ocular defects ,and 66 .67% ( 10/15 ) were diagnosis with extrocular defects ,including 20 .00% ( 3/15) with central nervous system defects ,13 .33% ( 2/15) with orofacial defects ,26 .67% ( 4/15) with cardiac defect ,13 .33% ( 2/15) with limb defect ,33 .33% ( 2/15) with urogenital defect and 40 .00% ( 6/15 ) with abnormal ultrasonographic soft markers . And the proportion of fetal microphthalmia associated extrocular defects showed no significant difference ( P ＝ 0 .502 ) . Conclusions Fetal microphthalmia is frequently associated with random and sporadic occurrence of extrocular defects

Objective: To analyze the ultrasonic features, associated malformations and combined genetic abnormalities of microphthalmia . Methods: The characteristics of 15 cases of fetal microphthalmia were retrospectively analyzed. And the proportion of fetal microphthalmia associated malformations were further assessed according to the different organ system. Results: All the orbital diameters of affected eyes of the 15 cases were less than the 5th centile of normal fetal orbital diameter corresponding to gestational age. In which, 26.67%(4/15) fetuses had additional ocular defects, and 66.67%(10/15) were diagnosis with extrocular defects, including 20.00%(3/15) with central nervous system defects, 13.33%(2/15) with orofacial defects, 26.67% (4/15) with cardiac defect, 13.33%(2/15) with limb defect, 33.33% (2/15) with urogenital defect and 40.00%(6/15) with abnormal ultrasonographic soft markers. And the proportion of fetal microphthalmia associated extrocular defects showed no significant difference(P=0.502). Conclusions Fetal microphthalmia is frequently associated with random and sporadic occurrence of extrocular defects

Objective To explore the prenatal ultrasound diagnosis and postnatal clinical outcomes of fetuses with hepatohilar cystic occupying lesions . Methods T his was a retrospective study that included all fetuses found to have hepatohilar cystic occupying lesions diagnosed by ultrasound in the First Affiliated Hospital of Sun Yat‐sen University between January 2008 and December 2017 . According to the morphology of the cyst and max diameter ,the cases were divided into four groups . Cases with polygonal cysts and max diameter over 30 mm were assigned to group 1 ,non‐polygonal cysts and max diameter over 30 mm to group 2 ,polygonal cysts and max diameter under 30 mm to group 3 ,non‐polygonal cysts and max diameter under 30 mm to group 4 . T he birth status ,ultrasound review image ,surgical treatment and pathological findings were tracked to analyze the prognosis of these fetuses . Results Among 47 cases of fetal hepatohilar cystic occupying lesions ,38 fetuses were born and 9 were terminated with only 1 case taking pathological examination . T here were 39 cases with pregnancy outcomes . T wenty‐seven cases ( 69 .2% ,27/39) were diagnosed as congenital biliary dilatation ( CBD) ,5 cases ( 12 .8% ,5/39) were found cysts resolved in postnatal ultrasound examinations . Biliary atresia was diagnosed in 3 cases ( 7 .8% ,3/39 ) by operation ; M esenteric cysts ( 5 .1% ,2/39) were diagnosed in 2 cases by ultrasound . One ( 2 .6% ,1/39) was diagnosed as double‐gallbladder by ultrasound . 1 ( 2 .6% , 1/39 ) was diagnosed as teratoma by operation . M ost cases were in the group 3 ,but there was no significant difference compared with other groups ( all P ＞ 0 .05) . Conclusions More than half of hepatohilar cystic occupying lesions diagnosed in prenatal ultrasound are proved to be CBD with good prognosis . T he cysts in few cases can be resolved after born . 7 .8% of cases are biliary atresia with poor prognosis ,w hich give messages to prenatal clinical consultation .

Objective To investigate the clinical performance of ultrasound screening for fetal structural anomalies at 11-13+6 weeks of gestation and to evaluate the relation of structural anomalies with karyotypes and copy number variations. Methods A retrospective analysis was conducted on fetuses with structural anomalies detected by ultrasound examination at 11-13+6 gestational weeks in First Affiliated Hospital of Sun Yat-Sen University from January 2013 to December 2017. Karyotype and chromosomal microarray analysis(CMA) were offered to these fetuses and ultrasound scans were repeated at 16-18 gestational weeks. All fetuses were followed up to termination or birth. Fisher's exact test was used for statistical analysis. Results A total of 362 fetuses with structural anomalies were studied including 101 (27.9%) fatal malformations, 253 (69.9%) major malformations and eight (0.2%) minor malformations. Cardiac malformation (32.6%, 118/362), central nervous system anomalies (24.9%, 90/362) and anterior abdominal wall defects (20.9%, 76/362) were the three most common abnormalities. Invasive prenatal test was performed in 107 cases including 25 fatal, 79 major and three minor malformations. Thirty (28%) out of the 107 cases had abnormal karyotypes, which were chromosomal aneuploidies (n=28) and chromosomal fragment abnormalities (n=2). Among the 99 cases received CMA, 25 had abnormal karyotypes, and copy number variations were identified in eight [three (4.05%) were pathogenic variations] out of the rest 74 with normal karyotypes. The incidence of chromosomal abnormalities in fetuses with major malformations was higher than that of fetuses with fatal malformation [32.9% (26/79) vs 12.0% (3/25), P=0.045]. Altogether, 117 cases repeated second-trimester ultrasound among which 16 (13.7%) were normal; 19 (16.2%) had cardiac defect which was discordant with the first-trimester evaluation and five (4.2%) were found to have additional malformations. Diagnosis of the other 77 cases were consistent with the first-trimester ultrasound findings. After the second-trimester ultrasound scanning, 49 pregnancies were terminated; 39 twin pregnancies and four triplet pregnancies underwent selective fetal reduction; 25 continued to delivery with good neonatal outcomes. Out of the 23 699 cases without abnormal ultrasound findings at 11-13+6 gestational weeks, 20 182 (85.2%) were successfully followed up, among which structural abnormalities were found in 178 during the second trimester and in 31 after birth. Conclusions A detailed ultrasound examination at 11-13+6 weeks of gestation is important to identify fetal structural defects. However, it could not replace the second-trimester ultrasound. There is a high risk of chromosomal abnormalities in fetuses with early-detected structural defects. CMA is able to identify pathogenic copy number variations with a relatively low detection rate.

Fetal growth restriction (FGR) is defined as the fetus does not reach its biological growth potential as a consequence of impaired placental function. Currently, the biggest clinical problem in this field is how to distinguish FGR fetus from healthy small for gestational age (SGA) fetus. Ultrasonography was regarded as golden criteria in diagnosis of FGR. The key diagnostic indexes included abdominal circumference (AC), estimated fetal weight (EFW) and umbilical artery (UA) blood flow spectrum curve. Ultrasonic monitoring can help to predict the adverse perinatal outcomes and select the optimal time of delivery. Some monitoring indexes, including growth parameters such as EFW and AC, resistance index of UA, ductus venosous Doppler waveform, middle cerebral artery, cerebroplacental ratio, as well as resistance index of uterine artery have been proved to be helpful to monitoring and prognosis of FGR.

Objective To investigated the clinical value of chromosomal microarray analysis (CMA)in fetuses with increased nuchal translucency(NT). Methods Totally 101 cases out of 19261 singleton fetuses who underwent the first trimester(11-13+6 weeks)ultrasound examination from January 2015 to June 2017 at First Affiliated Hospital of Sun Yat-sen University were diagnosed with NT ≥2.5 mm and underwent invasive prenatal test for fetal karyotype and CMA. According to the combination of other ultrasound abnormalities,the cases were divided into isolated group(67.3％, 68 / 101)and complicated group(32.7％, 33/101). In addition, the cases were divided into 5 groups according to the thickness of NT,2.5-2.9 mm(borderline thickening;16.8％, 17/101), 3.0-3.4 mm(33.7％, 34/101), 3.5-4.4 mm(16.8％, 17/101),4.5-5.4 mm(15.8％, 16/101),and ≥5.5 mm(16.8％, 17/101). Chi square test was used to detect the different rates of other combined ultrasound abnormalities and abnormal chromosome between 5 groups. Results The median thickness of NT was 3.4 mm(2.5-8.5 mm). And 32 cases(31.7％, 32/101)had abnormal karyotype. There was a significant difference in the frequency of abnormal karyotype between the isolated and the complicated group(20.6％ vs 54.5％, P<0.01). Among 69 cases(68.3％,69/101) of normal karyotype, 3 cases(4.3％, 3/69)were detected with pathogenic copy number variation(CNV) by CMA. Thirty-five cases with chromosomal abnormalities(include abnormal karyotype and pathogenic CNV), there was a significant difference in the frequency of chromosomal abnormalities between the isolated and the complicated group(23.5％ vs 57.6％, P=0.001). The median age of pregnant women in 5 groups was 35 years(24-39 years),33 years(23-46 years),31 years(21-46 years),33 years (21-41 years) and 35 years (21-43 years). The rates of chromosomal abnormalities increased with the increase of NT thickness. There was significant difference in the incidence of associated chromosomal abnormalities among 5 groups(P<0.05). Comparative analysis within the 5 groups, the incidence of associated chromosomal abnormalities between NT 2.5-2.9 mm and ≥5.5 mm was significantly different (P=0.005), while the differences between the other groups were not significant(P>0.05). Conclusions There is a high risk of fetal chromosomal abnormalities in borderline NT thickening (2.5-2.9 mm)at advanced maternal age, but the pathogenic CNV is not detected. Chromosomal microdeletion or microduplication could be further detected in the NT thickening(≥3.0 mm)fetuses with normal karyotype by chromosome microarray analysis, while the positive rate is relatively low, and the variants of unknown significance might be detected.

[Objective]To evaluate the incidence of chromosomal abnormalities and associated abnormalities in prenatally diag?nosed clubfoot,and to determine the prognostic factors as well.[Methods]A total of 89 fetuses with clubfoot diagnosed during Janu?ary 2010 to October 2015 in prenatal ultrasound scan and confirmed postnatally or by autopsy,were selected,within which 16 (18.0%)cases were without other abnormalities and 73(82.0%)cases were with other abnormalities. The associated abnormalities were identified ,the correlation with chromosomal abnormalities were analyzed with Fisher analysis and the factors affecting the outcomes were determined with Logistic regression analysis.[Results]Among associated abnormalities ,the skeletal abnormalities besides the clubfoot were the most frequently associated anomalies (35 ,47.9%),and the central nervous abnormalities followed secondly(30,41.1%). A chromosomal abnormality,with trisomy 18 being the most frequently detected,was identified in 34%(17/49)of the clubfoot fetuses with other anomalies ,whereas none of chromosomal abnormality was identified in 11 fetuses without other anomalies,a significant different rate of aberrant chromosome noted(P < 0.001). The survival rate of clubfoot fetuses without other anomalies was higher than that of clubfoot fetuses with other anomalies(50.0%vs 1.3%,P=0.03). The conditions of with or without associated anomalies were the independent prognostic factors (P = 0.01),the clubfoot fetuses associated with other anomalies had poor outcomes[OR=11.9(95%CI:1.8,80.1)].[Conclusion]Skeletal abnormalities besides the clubfoot were the most frequently associated anomalies. The condition of with or without associated anomalies is the independent prognostic index for fetuses with clubfoot. Aneuploidy were more commonly in clubfoot fetuses with associated abnormalities than in those without other abnormalities. No indication for karyotyping suggests for the clubfoot fetuses without other abnormalities due to the low incidence of associate chromo?somal anomalies.

Objective To evaluate the effect of two different venous drainage patterns on the prognosis of fetal pulmonary sequestration( PS) . Methods Sixty cases of fetal PS with confirmed venous drainage diagnosed by prenatal ultrasound were retrospectively analyzed . Changes of the volumes of PS lesions and the clinical outcomes were compared between two different venous drainage patterns . Results Among the total 64 cases ,34 cases were pulmonary venous drainage and 30 cases were systemic venous drainage . There was no case combined with any abnormality in pulmonary venous drainage group;whereas , 6 cases combined with other abnormalities in systemic venous drainage group ,between which significant difference was noted( P =0 .02) . In pulmonary venous drainage group ,there was no significant difference in the volumes of PS lesions between at 20-24 weeks′gestational age(WGA) and at 24+1 -30 WGA( P >0 .05) ;but not between at 24+1 -30 WGA or at 20 -24 WGA and at 30+1 -39 WGA ( P < 0 .05) . However ,in the systemic venous drainage group ,the volumes of PS lesions were stable at these three stages ( P > 0 .05) . Postnatal respiratory symptoms and postnatal surgery rates were similar between the two groups( P > 0 .05) . Conclusions PS with systemic venous drainage is more likely combined with other abnormalities than PS with pulmonary venous drainage . The lesion volumes of PS with pulmonary venous drainage decreas remarkably during the middle‐late pregnancy . Nevertheless ,the clinical postnatal outcomes are both favorable in the two groups .

Objective To evaluate the diagnostic accuracy and integrity of two-dimension ultrasound (2DUS)assisted with spatio-temporal image correlation (STIC)for cardiac and vascular abnormalities in fetal heterotaxy syndrome (HS).Methods The retrospective study was conducted from Nov 2007 to Feb 2013.Forty-five fetuses with suspected heterotaxy syndrome on routine prenatal ultrasonic screening underwent STIC volume sweep.The diagnosis was confirmed by pathological or echocardiographic examination.STIC volume data sets of fetal hearts were off-line analyzed blindly by one doctor who had practiced fetal echocardiography for more than five years.The concordance and integrity levels of diagnosis with 2DUS or assisted with STIC were compared according with pathological results.Results There were 397 cardiac and vascular defects in 37 cases of right isomerism.The overall concordance of various defects in right isomerism diagnosed assisted with STIC (96.5%)was significantly higher than that of 2DUS (60.2%) (P <0.05).The concordance rates of right atria and ventricle isomerism,anomalies of ventriculo-arterial junction,arterial arch,systematic and pulmonary veins diagnosed assisted with STIC (78.9%,96.7%, 100%,100%,100%)were higher(P <0.05)than those of 2DUS (49.1 %,60%,34.7%,23.2%,62.2%). Percentages of diagnostic integrity levels (0 ~3)on 2DUS+STIC (8% on level 2,92% on level 3 )were significantly different(P <0.05)with those on 2DUS (1 1 % on level 0,21 % on level 1 ,57% on level 2, 1 1 % on level 3).There were 59 cardiac and vascular defects in 8 cases of left isomerism with the overall concordance of defects diagnosed assisted with STIC (89.8%)and 2DUS (81 .4%)being no difference (P >0.05).There was no significant difference in concordance rates of various defects of left isomerism diagnosed between two methods,except that the concordance rate of left atria isomerism diagnosed assisted with STIC was higher(P <0.05).There was no difference in percentages of diagnostic integrity levels (0-3)in left isomerism between two methods.Conclusions STIC technology may provide considerable diagnostic information for ultrasonic diagnosis of fetal heterotaxy syndrome,especially in abnormalities of atria and ventricle isomerism,ventriculo-arterial junction,arterial arches,systematic and pulmonary veins in right isomerism.