Prenatal ultrasound diagnosis of fetal right aortic arch / 中国医师进修杂志

Objective:To explore the prenatal ultrasound manifestations of fetal congenital right aortic arch and its diagnostic significance.Methods:The characteristics of prenatal ultrasound images (focusing on the three vessel trachea section) and clinical data of 128 cases of fetal congenital right aortic arch diagnosed in Dalian Women and Children′s Medical Center(Group) from January 2014 to January 2019 were analyzed retrospectively.Results:Among 128 cases of fetal congenital right aortic arch, 111 cases were right aortic arch and leftductus arteriosus with aberrant left subclavian artery (RAA-LDA-ALSA), 1 case was diagnosed as left aortic arch atresia of double aortic arch by operation after birth; 9 cases were right aortic arch and right ductus arteriosus (RAA-RDA); 6 cases were mirror-image right active aortic arch and left ductus arteriosus connected to descending aorta (RAA-BAMB-LDA-DAO); 2 cases were mirror-image right aortic arch and left ductus arteriosus connected to the left innominate artery (RAA-BAMB-LDA-LINA). The three vessels and trachea view (3VT) had characteristic sonographic features.If necessary, coronary section of the upper thoracic aorta and / or stic were added - HD live flow technology assisted the diagnosis of 3vt section.Conclusions:Three vessel trachea view is a sensitive and effective view for prenatal detection and diagnosis of congenital right aortic arch. Upper thoracic aorta coronal section and combined stic - HD live flow technology can make up for its shortcomings. Prenatal ultrasound diagnosis of right aortic arch hasguiding significance for prenatal prognosis consultation.

Feasibility of transperineal ultrasound in quantitative assessment of posterior compartment prolapse / 中华超声影像学杂志

Objective:To investigate the feasibility of transperineal ultrasound in quantitative assessment of posterior compartment prolapse among Chinese women.Methods:The prospective multicenter study enrolled 485 women between January 2017 and January 2019. All patients underwent a standard clinical interview, pelvic organ prolapse quantification (POP-Q) examination and transperineal ultrasound examination. Volume data of transperineal ultrasound examinations were obtained at rest and in maximal Valsalva maneuver.Results:The higher POP-Q stage of posterior compartment, the lower rectal ampulla position in maximal Valsalva maneuver (POP-Q stage=0 vs POP-Q stage=1, P<0.001; POP-Q stage=1 vs POP-Q stage≥2, P<0.001), and the greater rectal ampulla hypermobility (POP-Q stage=0 vs POP-Q stage=1, P<0.001; POP-Q stage=1 vs POP-Q stage≥ 2, P=0.007). The rectal ampulla position at rest and in maximal Valsalva maneuver and rectocele depth were correlated with prolapse symptoms ( r=-0.200, P<0.001; r=-0.252, P<0.001; r=0.086, P=0.045). The corresponding cut-off values of rectal ampulla position in maximal Valsalva in diagnosing posterior compartment prolapse (POP-Q stage ≥1) and clinical significant posterior compartment prolapse (POP-Q stage ≥2) were 7.32 mm below the symphysis pubis and 12 mm below the symphysis pubis, respectively, with the area under the ROC curve as 0.75 and 0.85, respectively. Conclusions:The ultrasonic measurements by transperineal ultrasound is significantly associated with POP-Q examination in posterior compartment, and it is demonstrated as a useful tool in quantitative assessment of the severity of posterior compartment prolapse.

Correlation between levator hiatus area, pelvic organ prolapse quantification and prolapse symptoms / 中华超声影像学杂志

Objective:To investigate the association between levator hiatus area, pelvic organ prolapse quantification (POP-Q) examination and prolapse symptoms.Methods:The prospective multicenter study enrolled 996 female patients between January 2017 and January 2019. All enrolled patients underwent a standard clinical interview, POP-Q examination and transperineal ultrasound examination. Volume data of pelvic floor ultrasound examinations were obtained at rest, during contraction and during maximal Valsalva maneuver. The association between levator hiatus area, POP-Q examination and prolapse symptoms was analyzed. The performance of levator hiatus area on maximal Valsalva for assessing significant POP(POP-Q stage≥2) and prolapse symptoms were also evaluated.Results:There were significant differences of levator hiatus area at rest, during contraction and during maximal Valsalva among patients with different POP-Q stages (all P<0.001). Levator hiatus area during maximal Valsalva showed the highest correlation with abdominal dragging sensation ( r=0.277, P<0.001). The area under the ROC curve (AUC) of levator hiatus area during maximal Valsalva for significant POP (POP-Q stage≥2) was significantly higher than that for prolapse symptoms (AUC: 0.77 vs 0.69, P<0.001). Conclusions:Levator hiatus area on transperineal has moderate correlation with POP-Q examination and their association is stronger than the correlation between ultrasound findings and prolapse symptoms.

Prenatal diagnosis of two Turner syndrome fetuses with 46,X,i(X)(q10) / 中华围产医学杂志

Objective To summarize the prenatal diagnosis and genetic counseling of Turner syndrome fetuses with 46,X,i(X)(q10).Methods Two gravidas admitted to the Obstetrics and Gynecology Hospital of Dalian were enrolled in this study.One gravida,who was admitted in October 2016,was classified as high risk of Down syndrome based on prenatal serologic screening and systematic ultrasonography,which found remarkably shorter humeri and femora than fetus of the same gestations.The other was suggested to be monosomy X after non-invasive prenatal testing and admitted in November 2017.Fluorescence in situ hybridization (FISH) and karyotyping were performed for prenatal diagnosis.Peripheral blood karyotyping was also offered to the two women and their partners.Results FISH test for amniotic fluid did not find numerical abnormality in 13,18,21,and sex chromosomes in these two fetuses.Karyotype analysis showed that the two fetuses were both 46,X,i(X) (q10),while their parents were normal.Both cases were terminated after genetic counseling.Conclusions Prenatal serological screening,systematic ultrasonography and non-invasive prenatal testing may help to identify Turner syndrome fetus of 46,X,i(X) (q10).Timely and accurate prenatal diagnosis may prevent the affected fetus from being born.

Prenatal ultrasound characteristics of fetal congenital absence of the ductus venosus and follow-up analysis of the prognosis / 中国医师进修杂志

Objective@#To investigate the sonographic findings of fetal congenital absence of the ductus venosus (ADV) and its effect on the prognosis of fetus.@*Methods@#The ultrasonographic features of 11cases of fetal ADV deficiency diagnosed from December 2013 to June 2017 were retrospectively analyzed, and the fetal prognosis was followed up.@*Results@#Of the 11 cases, umbilical vein flew directly back to the right atrium in 7 cases; umbilical vein connected with the inferior vena cava in 1 case; umbilical vein directly flowed into the iliac vein in 1 case; umbilical vein and portal vein connection in the other 2 cases. Of the 11 cases, 4 cases were solitary and had no abnormality after birth; 5 cases were complicated with abnormal structure of intracardiac and extracardiac system; 2 cases were only followed with abnormal extracardiac system. Of the 5 complicated cases, 1 case was double chorionic twin amniotic membrane pregnancy (the second fetuse had no obvious abnormality) and died after birth; the other 4 cases were terminated before 28 weeks of gestation. Of the 2 complicated cases, 1 case was followed with severe digestive tract abnormalities and died after birth, and the other one was followed with single umbilical artery and hydramnion.@*Conclusions@#Color Doppler ultrasonography is an important means for prenatal screening of fetal ADV.The prognosis of patients with solitary ADV without fetal cardiac dysfunction is good.The prognosis is poor to patients with severe intracardiac and extracardiac abnormality. There is a correlation between the ADV and fetal chromosomal abnormalities. If pregnancy is necessary, fetal chromosome examination should be recommended first and cardiac function should be followed up closely by ultrasound.

Short rib-thoracic dysplasia syndrome (type Ⅲ) caused by compound heterozygous mutation in DYNC2H1: a case report / 中华围产医学杂志

We reported one fetus who was identified with significantly short humeri and femora,bulging abdomen and narrowed chest at 22+2 weeks' gestation,which was consistent with clinical findings at birth.Genetic analysis revealed that this was a case of short-rib thoracic dysplasia syndrome (type Ⅲ) caused by compound heterozygous mutation in DYNC2H1.We summarized the features of prenatal ultrasound imaging and results of postpartum genetic analysis of this case to provide information for prenatal ultrasound diagnosis and postpartum consultation.

Phenotypic and genetic analysis of a boy with 3p26.3-pter deletion and 7q31.33-qter duplication / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To delineate the nature and origin of chromosomal copy number variants (CNVs) in a boy with mental retardation and multiple congenital malformation.</p><p><b>METHODS</b>The karyotypes of the patient and his parents were analyzed with routine G-banded chromosomal analysis. Genome DNA was analyzed by next generation sequencing (NGS).</p><p><b>RESULTS</b>The patient was found to harbor a structural aberration involving chromosome 3p. The karyotype of his father was 46,XY,t(3;7)(p26;q31), while his mother was found to be normal. NGS analysis of the patient revealed a 2.16 Mb microdeletion at 3p26.3-pter and a duplication at 7q31.33-qter.</p><p><b>CONCLUSION</b>The structural aberration of 3p carried by the patient has derived from his father whom carried a balanced translocation of t(3;7), and his karyotype was finally determined as 46,XY,der(3) t(3;7)(p26.3;q31.33)pat. The abnormal phenotype of the patient can probably be attributed to the presence of 3p26.3-pter microdeletion and 7q31.33-qter duplication.</p>

Spina bifida occulta in prenatal ultrasound scan / 中华围产医学杂志

Objectives To summarize and analyze the characteristics ofspina bifida occulta in prenatal ultrasound scan in order to improve the accuracy of diagnosis.Methods Sixteen singleton pregnant women with fetal spina bifida occulta who were diagnosed in the Ultrasonography Department of Dalian Maternal and Child Health Hospital from January 2014 to April 2015,were enrolled in this study.Diagnosis was made based upon the abnormalities found in the spinal column of fetus during routine ultrasound scan,followed by a close examination on the fetal spinal column and the position of conus medullaris by using multiple scan.Descriptive analysis was used to summarize the characteristics of spina bifida occulta in ultrasonic images.Results Among the 16 cases,12 had subcutaneous mass (nine cases had follicle-like anechoic mass and three cases had masses with strong echoes).The other four cases without subcutaneous mass manifested signs of disappeared physiological curvatures or disordered arrangement of spinal column,angulation deformity or scoliosis,or asymmetry in ossification centers of spinal column on both sides of lesions and lowered position of conus medullaris.Lemon shaped head and banana shaped cerebellum were seen in one case,while the other 15 cases were found no cerebral abnormalities.Eight cases had tethered cord (the position of conus medullaris was lower than the second lumber vertebra),six cases had unclear position of conus medullaris and the other two were normal.Diagnoses for all of the 16 cases were confirmed by MRI after delivery or autopsy or neonatal operation.Conclusions Abnormalities such as subcutaneous mass and tethered cord observed in prenatal ultrasound scan are significant indicators for suspected closed spinal dysraphism and further multiple scan is required to confirm the diagnosis.