Purpose To analyze the ultrasound manifestation of ovarian malignant teratoma, and to evaluate its diagnostic value and explore reasons for its misdiagnosis. Materials and Methods A retrospective study was conducted on the ultrasound findings of 25 patients with ovarian malignant teratoma confirmed surgically and pathologically (22 with immature teratoma, 3 with teratoma with malignant transformation). Their ultrasound imaging features were summarized and the reasons for misdiagnosis were further analyzed. Results The ultrasound imaging of 22 immature teratoma cases were divided into three types, namely, predominant solid components, predominant fluid components and mixed components of fluid and solid. All displayed calcification-like strong echo scattering in the low echo;color Doppler showed rich blood signal, little signal or no blood flow signal. Preoperative ultrasound presented1 case of immature teratoma (4.5%), 8 cases of ovarian tumors (malignant) (36.4%) and 13 cases of other diagnosis (59.1%). As to the 3 cases of teratoma with malignant transformation, the ultrasound imaging showed 2 cases were composed by fluid and solid components and that 1 case was mature cystic teratoma;typical hypoecho suggested malignant transformation. Preoperative ultrasound did not present teratoma with malignant transformation. Conclusion The ultrasound findings of ovarian malignant teratoma seem to be complicated and variable;thus the preoperative diagnosis rate is low though it still shows certain characteristics.

Objective To investigate the NPHS1 gene mutations in Finnish type congenital nephrotic syndrome (CNF). Methods Clinical data of one neonate with CNF and the results of NPHS1 gene detection in the neonate and his parents were retrospectively analyzed. Results The male neonate who was born at gestational age of 34 weeks presented with breathing difficulties after birth, and then glycosuria, proteinuria, and hematuria at 3 days of age. The CNF was clinically diagnosed. The neonate carried two heterozygous mutations in NPHS1 gene, c.1699?>?C, p.(Cys567Arg) and c.3523_3524de1TT, p.(Leu1175Valfs). His father carried the heterozygous mutations of c.1699?>?C, p.(Cys567Arg). His mother carried the heterozygous mutations of c.3523_3524de1TT, p.(Leu1175Valfs). Conclusions The NHPSI gene mutation of c.1699?>?C, p.(Cys567Arg) and c.3523_3524de1TT, p.(Leu1175Valfs) may cause CNF. The mutation of c.1699?>?C, P. (Cys567Arg) has not been reported at home and abroad.

Objective To investigate the value of detection of fetal cell-free fetal DNA(cff-DNA)in maternal plasma in the prenatal diagnosis of chromosomal abnormalities.Methods The plasma from 3200 gravidas(singleton with 20.3 ± 3.8 gestational weeks)was collected from April 1st 2011 to May 30th 2012.They were divided into 3 groups:(1)To tally 1720 cases were included in the high-risk serological screening group,in which women were younger than 35 years and got high-risk results in serological screening;(2)To tally 1310 cases were included in the advanced age group,in which women's age was more than 35 years;(3)To tally 170 cases were included in the supplementary group,in which women were younger than 35 years and got low-risk results in serological screening,or women who didn't take serological screening tests.All the 3030 gravidas in group 1 and 2 didn't take invasive prenatal diagnosis because of fear of abortion or short of prenatal diagnosis.Cff-DNA were detected by next generation sequencing in Shenzhen BGI Genomics Center for clinical laboratory.Amniocentesis and karyotype analysis were provided to the positive cases and women with negative results were followed-up by telephone.Results(1)The 3200 cases took cff-DNA detection,and 31 cases got positive results,including 27 cases of trisomy 21 and 4 cases of trisomy 18.Sixteen cases of trisomy 21 and 1 case of trisomy 18 were in the high-risk serological screening group.7 cases of trisomy 21 and 2 cases of trisomy 18 were in the advanced age group.Four cases of trisomy 21 and 1 case of trisomy 18 were in the supplementary group.(2)And the 84％(26/31)cff-DNA detecting positive cases received amniocentesis.In the 27 trisomy 21 positive cases,23 received amnioeentesis and got karyotype of 47XN,+ 21,with the diagnostic accordance rate of 100％.In the 4 cases who didn't take karyotype analysis,fetal anomaly(ventricular septal defect,dextrocardia and choroid plexus cyst)was found in 1 case before 20 gestational weeks;intrauterine fetal demise happened in 1 case before getting the result;2 other cases who already had healthy children took abortion in the local hospital without taking amniocentesis.In the 4 trisomy 18 positive cases,3 took amniocentesis,2 of which were trisomy 18 and took abortion,the other was chimera(46,XN/47,XN,+ 18)with only 2％ cells of trisomy 18,with no malformation found after delivery.Hypoevolutism(3 weeks less than gestational week),general hydropsy and intrauterine fetal demise happened before the other case took amniocentesis.(3)Follow up of cff-DNA negative cases:until May 30th 2012,no Down's baby was found in the 1230 cases with cff-DNA test negative results.Conclusions(1)The non-invasive fetal trisomy test(NIFTY)by next generation sequencing is a safe,accurate and high throughput method for the prenatal diagnosis of trisomy-21.(2)Use NIFTY as a further screening for pregnant women with high-risk serological screening results could lower invasive prenatal diagnosis rate.(3)Cases with positive NIFTY test results should receive amniocentesis and karyotype analysis to confirm the diagnosis before abortion.

Objective To explore the ultrasonographic imaging characteristics of placenta increta and clinical data, and analyze the reasons for failure to make an accurate diagnosis. Methods By means of a retrospective analysis of 27 patients with placenta increta confirmed by operation and pathologic examination from January 2014 to May 2017 in the General Hospital of the People's Liberation Army (also Hospital 301 for short), the reasons for missed diagnosis and misdiagnosis are comprehensively summarized. Results The ultrasound examination in all the 27 cases (5 cases of first pregnancy, 17 cases of scar, 5 cases of maternal) illustrated the poorly-defined boundary between placenta and uterus mesometrium, the loss of retroplacental space, multiple lacunae echo areas, and the incomplete high-echo area of the serous membrane of placenta and bladder (involving the bladder); despite 3 normal placenta, the rest 24 were all diagnosed as placenta previa before operation, of which 20 belonged to central placenta previa and the other 4 belonged to marginal placenta previa. Twenty liveborn infants were delivered in the study, 13 of them went through abdominal hysterectomy after cesarean section surgery, 8 of them only received cesarean section surgery; 2 of them went through vaginal hysterectomy, 1 received cesarean section surgery after interventional embolization, 1 Uterine rupture in utero before got to the hospital, with the rest 2 received interventional embolization clamp scraping as a consequence of deadly induced labor or stillbirth. Postoperative placenta increta types demonstrated adhensive implantation, penetrating implantation, and implantation into muscular but not membrane layer in 3, 2, and 22 cases respectively. In terms of implanting position, only 3 patients (3/17) with cicatricial uterus did't undergo the implantation into the scar area mainly in the left wall, left anterior wall and posterior wall, as for patients with non-scar uterus, posterior wall implantation was the main mode presented in 6 cases (6/10). Fifteen of all the involved 27 cases were identified while 12 cases failed to be distinguished. The deep reasons of misdiagnosis were placental location (placenta adheres to the posterior wall), fetal head shelter, or small placental placement, gestational age, larger range of placenta implantation, emergency ultrasound only pay attention to the emergency situation and ignore the exist at the same time, experience of inspectors with placenta increta and so on. Conclusions Although there are some limitations in prenatal ultrasound diagnosis of placenta, it is still an important method for the diagnosis and prenatal dynamic monitoring of the condition before the placenta implantation.

Purpose:The study was designed to investigate the feasibility of contrast-enhanced ultrasound in the differentiation of benign and malignant adnexal masses.Materials and Methods:Sixty-nine consecutive patients with adnexal masses received trans vaginal contrast-enhanced ultrasound.The image and perfusion features were assessed.Results:All of 26 malignant tumors showed detectable contrast enhancement,including 24 cases with a quick,heterogeneous or branching pattern.Among 39 benign lesions,24 were cystic with circle or half-circle enhancement,including 5 cases with intra-cystic septum or papillae slightly enhanced.The other 15 cases were solid,8 of them had slightly dotted enhancement.There are significant difference in enhancement patterns between benign and malignant masses ( P < 0.0001).The 4 cases of borderline tumors showed progressive,heterogeneous enhancement.Conclusion:Contrast-enhanced ultrasound is of value in the differentiation of benign and malignant adnexal masses.

Objective:To analyze the indications for invasive prenatal diagnosis in the third trimester and summarize the pregnant outcome.Methods:Clinical data of 121 women who underwent invasive prenatal diagnosis in the third trimester in the prenatal diagnostic center of the First Medical Center of Chinese PLA General Hospital from January 2016 to December 2020 was retrospectively analyzed. Different genetic diagnostic methods were used according to different indications. Indications and results of prenatal diagnosis, as well as the complications within two weeks after the invasive procedure, pregnancy outcome, and neonatal follow-up of all the participants were described.Results:Among the 121 cases, 107 cases underwent amniocentesis, seven underwent percutaneous umbilical blood sampling, and seven had both procedures performed at the same time (one underwent thoracocentesis at the same time). Newly identified ultrasound abnormalities in the second and third trimesters were the main indications for prenatal diagnosis, accounting for 99.2%(120/121), of which short limbs and fetal growth restriction accounted for 25.0% (30/120) and 20.0% (24/120), respectively. Genetic abnormalities and congenital diseases were detected in 20 cases with a detection rate of 16.5%(20/121). Among them, there were nine cases of achondroplasia, five cases of pathogenic copy number variations, one case of achondroplasia with pathogenic copy number variation, one trisomy 18, one 47,XXX, one tetrasome mosaicism of 12p, one de novo WTX c. 1072(Exon2) C>Tp.R358X heterozygous mutation, and one fetal hypoproteinemia. In addition, six cases with copy number variation of unknown significance (VUS) were detected, noting for a detection rate of 5.0%(6/121). Among the 20 cases with abnormal detection, 15 were terminated, two delivered prematurely before obtaining the prenatal diagnosis results, one underwent cesarean section before obtaining prenatal diagnostic results and two continued the pregnancies. In the six cases with VUS, one was terminated and the other five continued the pregnancy. Only one case had preterm premature rupture of membranes 2 d after amniocentesis and the incidence rate of complications after all kinds of invasive procedures was 0.8% (1/121). During the neonatal follow-up, postnatal whole exome sequencing revealed monogenetic disorder in two cases with normal prenatal diagnostic results; the patient with 12p chimerism had developmental delay; the one with WTX mutation deceased on the day of born; the rest newborns developed normally. Conclusions:As a relatively safe method, invasive prenatal diagnosis in the third trimester is of great importance and value in reducing the miss diagnostic rate of fetuses with severe genetic diseases and birth defects. The appropriate application of prenatal whole exome sequencing could further help to decrease the miss diagnostic rate of monogenetic disorder.