Noninvasive prenatal testing, ultrasonographic findings and poor prenatal diagnosis rates for twin pregnancies: a retrospective study.

BACKGROUND: Noninvasive prenatal testing (NIPT) is increasingly used in the clinical prenatal screening of twin pregnancies, and its screening performance for chromosomal abnormalities requires further evaluation. For twin pregnancies with indications for prenatal diagnosis, there is a lack of clinical data to assess the prenatal diagnosis rate (PDR). The aim of this study was to evaluate the screening performance of NIPT for foetal chromosomal abnormalities in twin pregnancies and the PDR in the second and third trimesters. METHODS: Ultrasound scans were carried out for all twin pregnancies between 11 and 13+ 6 gestational weeks. For twin pregnancies with nuchal translucency thickness˂3.0 mm and no foetal structural malformations, NIPT was performed after blood sampling, followed by routine ultrasound monitoring. Women with twin pregnancies who underwent NIPT at the prenatal diagnostic centre of Xiangya Hospital from January 2018 to May 2022 were included in the study. Genetic counselling was offered to each pregnant woman when the NIPT result indicated a high risk of abnormalities or abnormal ultrasonographic (USG) findings were detected. We followed up twin pregnancies for NIPT results, USG findings, prenatal diagnosis results and pregnancy outcomes. RESULTS: In 1754 twin pregnancies, the sensitivity, specificity and positive predictive value of NIPT for trisomy 21 were 100%, 99.9% and 75%, and the corresponding values for sex chromosome aneuploidy (SCA) were 100%, 99.9% and 50%, respectively. For the 14 twin pregnancies for which the NIPT results indicated a high risk of abnormalities, the PDR was 78.6% (11/14). For the 492 twin pregnancies for which the NIPT results indicated a low risk of abnormalities, the rate of USG findings in the second and third trimesters was 39.4% (194/492); of these pregnancies, prenatal diagnosis was recommended for 16.7% (82/492), but it was actually performed in only 8.3% (41/492), and the PDR was 50% (41/82). There was no significant difference in the PDR between the NIPT high-risk and low-risk groups. CONCLUSIONS: The screening performance of NIPT for SCA in twin pregnancies needs to be further evaluated. When abnormal NIPT results or USG findings are used as the main prenatal diagnostic indicator in the second and third trimesters, the PDR is poor.

Predictive value of ultrasound in prenatal diagnosis of hypospadias: hints for accurate diagnosis.

OBJECTIVES: This study aims to assess the diagnostic accuracy of targeted ultrasound examination in prenatal diagnosis of hypospadias and to evaluate the predictive values of defined ultrasonographic findings of hypospadias. METHODS: The cases diagnosed with hypospadias in our fetal medicine center were identified on an electronic database. The ultrasound reports, images and hospital records were reviewed retrospectively. The predictive value of prenatal ultrasound diagnosis and the predictive values of each sonographic finding were assessed according to the postnatal clinical examinations. RESULTS: Thirty-nine cases were diagnosed with hypospadias on ultrasound during the 6 years. Nine fetuses with missing postnatal examination records were excluded. Twentytwo of the remaining fetuses had their prenatal diagnosis of hypospadias confirmed in postnatal examinations, indicating a 73.3 % positive predictive value. Normal external genitalia was detected in postnatal examinations of three fetuses. Five fetuses were diagnosed with other external genital abnormalities, including micropenis (n=2), clitoromegaly (n=2), and buried penis with bifid scrotum (n=1) in postnatal examinations. The positive predictive value of prenatal ultrasound for any external genital abnormality was 90 %. CONCLUSIONS: Although the positive predictive value of ultrasound for genital anomalies is satisfying, it is slightly lower for the specific diagnosis of hypospadias. This reflects overlapping ultrasound findings of different external genitalia anomalies. Standardized, systematic evaluation of the internal and external genital organs, karyotyping and genetic sex determination are essential to achieve a precise prenatal diagnosis of hypospadias.

Cytomegalovirus in Pregnancy.

Cytomegalovirus is a pervasive DNA herpesvirus that, while clinically insignificant to an immunocompetent adult host, can cause significant morbidity to a congenitally infected fetus. Although detection is often possible with several common ultrasonographic markers and good diagnostic accuracy using polymerase chain reaction testing of amniotic fluid, there are no proven prenatal prevention or antenatal treatment options. Therefore, universal screening is not currently recommended in pregnancy. Strategies that have been studied in the past include immunoglobulins, antivirals, and the development of a vaccine. In this review, we will further discuss the themes above, along with future direction for prevention and treatment.

Prenatal features of 17q12 microdeletion and microduplication syndromes: A retrospective case series.

OBJECTIVE: To present the experience on prenatal features of 17q12 microdeletion and microduplication syndromes. MATERIALS AND METHODS: Prenatal chromosomal microarray analysis (CMA) were conducted between January 2015 and December 2018 at a single Chinese tertiary medical centre. Information of cases identified with 17q12 microdeletion or microduplication syndromes were retrospectively collected. Foetal ultrasonographic findings were reviewed, and other information about the gestation week at diagnosis, inheritance and pregnancy outcomes were also included. RESULTS: Ten pregnancies with 17q12 microdeletion and 4 with 17q12 microduplication were identified. The copy number variation (CNV) sizes were 1.39-1.94 Mb in the deleted cases and 1.42-1.48 Mb in the duplicated cases, respectively. All the duplicated and deleted regions included HNF1B and LHX1 genes. Most individuals with 17q12 deletion presented kidney anomalies (9/10), with renal hyperechogenicity being the most common finding (7/10). Fetuses with 17q12 duplication presented a wide phenotypic spectrum, including "double bubble" sign, structural anomalies of the heart and growth anomalies. CONCLUSIONS: Our experience further demonstrated the high correlation between 17q12 microdeletion and renal anomalies especially hyperechogenic kidneys. Structural anomalies of the heart were newly identified phenotypes of 17q12 duplication during prenatal period. Besides, growth anomalies and duodenal atresia might be associated with the duplication.

Equine granulosa cell tumours among other ovarian conditions: Diagnostic challenges.

BACKGROUND: Granulosa cell tumours (GCT) are the most common ovarian tumours in mares. While the classical presentation may not represent diagnostic challenges, diagnosis is not easy in the early stages. OBJECTIVES: Illustrate the variability in the presentation and serum biomarkers associated with ovarian abnormalities in the mare. STUDY DESIGN: Retrospective case series. METHODS: Nonclassical cases of GCTs and other ovarian conditions were identified and behaviour, GCT endocrine results, palpation and ultrasonographic findings are described and the diagnostic value of each is discussed. RESULTS: Mares in this case series with GCTs had been presenting clinical signs ranging from no behavioural changes to behaviours including aggression, stallion-like and inability to work under saddle. Hormonal profiles of endocrinologically functional GCTs can be erratic and unpredictable. The clinical form and ultrasonographic appearance may also vary with time from an initially enlarged/anovulatory follicular structure that later develops a multicystic 'honeycomb' appearance. Mares with GCTs can also present with persistent anovulatory follicles or apparent luteal tissue that are unresponsive to treatment. If both ovaries are of relatively normal size and symmetry, but hormonal biomarkers are markedly increased (AMH >10 ng/mL, inhibin B and/or testosterone >100 pg/mL; 0.37 nmol/L), it is likely that a functional GCT is present. Still, it can be a challenge to decide which ovary to remove. Post-surgical endocrine testing can be helpful, especially if histopathology is not performed or a GCT is not found. MAIN LIMITATIONS: Cases limited to 14. CONCLUSIONS: Granulosa cell tumours present with a wide variety of clinical signs that do not fit what is commonly described as 'classic'. Only if AMH, testosterone and inhibin B concentrations are markedly increased, and there is an abnormally enlarged ovary, the diagnosis of a GCT is more confident. In the presence of normal size ovaries, normal hormonal biomarkers and abnormal behaviour, it is more likely that the ovaries are not involved.

Differentiation of inflammatory papulosquamous skin diseases based on skin biophysical and ultrasonographic properties: A decision tree model.

BACKGROUND: The biophysical and ultrasonographic properties of the skin change in papulosquamous diseases. AIMS: : To identify biophysical and ultrasonographic properties for the differentiation of five main groups of papulosquamous skin diseases. METHODS: Fifteen biophysical and ultrasonographic parameters were measured by multiprobe adapter system and high-frequency ultrasonography in active lesions and normal control skin in patients with chronic eczema, psoriasis, lichen planus, pityriasis rosea and parapsoriasis/mycosis fungoides. Using histological diagnosis as a gold standard, a decision tree analysis was performed based on the mean percentage changes of these parameters [(lesion-control/control) ×100] for differentiation of the diseases. RESULTS: The accuracy of the decision tree model for differentiation of five diseases was 67% which developed based on changes in stratum corneum hydration, epidermal thickness, skin pH, melanin index, R0 (reciprocal of firmness) and erythema. Among the flowcharts for pairs of diseases, three models for differentiation had high accuracy (> 95%): those of psoriasis from lichen planus, pityriasis rosea, and parapsoriasis/mycosis fungoides. LIMITATIONS: Validation studies on a larger sample size in situations where the diagnosis is unclear are needed to confirm the accuracy and applicability of decision trees. CONCLUSION: Skin biophysical and ultrasonographic properties may help in the differentiation of papulosquamous diseases as simple and non-invasive tools.

Ultrasonographic Findings in Eyes with Retinopathy of Prematurity in Malaysia

RetCam is an excellent screening tool for the detection of retinopathy of prematurity (ROP). However, affordability is a barrier when adopting the use of RetCam in developing countries. We aimed to describe different stages of ROP using ultrasonographic B-scan and to evaluate the association between funduscopic examinations and ultrasonographic B-scan findings in premature neonates with ROP in Malaysia. A descriptive cross sectional study was conducted in 90 eyes of 47 premature neonates with different stages of ROP in three tertiary hospitals in Malaysia. Experienced ophthalmologists performed detailed funduscopic examinations using binocular indirect ophthalmoscopy (BIO). A masked examiner performed a 10 MHz ultrasonographic B-scan evaluation with 12 meridian position images within 48 hours of clinical diagnosis. Data from the clinical examination and ultrasonographic findings were collected and analysed. We recruited 37 eyes (41.1%) with stage 1 ROP, 29 eyes (32.3%) with stage 2, 18 eyes (20.0%) with stage 3, and 3 eyes (3.3%) with stages 4 and 5 based on the clinical assessment. Ultrasonography correctly identified 3 (8.1%) stage 1 eyes, 17 (58.6%) stage 2 eyes, 13 (72.2%) stage 3 eyes, and 3 each (100%) of the stage 4 and 5 eyes. There was a significant association between the funduscopic signs and the ultrasound findings for stage 2 ROP and above (Fisher’s exact test, p <0.001). In conclusion, all stages of ROP were detected and described with a 10 MHz ultrasonic B-scan system. A significant association was observed between funduscopic signs and ultrasonographic findings in premature Malaysian neonates with stage 2 ROP and above.

The intersection syndrome: Ultrasound findings and their diagnostic value.

INTRODUCTION: The intersection syndrome is a well-known overuse syndrome of the distal forearm. It is characterized by noninfectious, inflammatory changes involving the area of intersection of the first (abductor pollicis longus and extensor pollicis brevis) and second (extensor carpi radialis longus and extensor carpi radialis brevis) extensor compartments in the dorsoradial aspect of the distal forearm. Imaging modalities used to diagnosis this syndrome include ultrasonography (US) and magnetic resonance imaging. The purpose of this report is to describe typical US findings in the intersection syndrome and to demonstrate the diagnostic value of this approach. MATERIALS AND METHODS: We reviewed US findings in 4 patients (mean age 40 years) referred to our staff for symptoms suggestive of the intersection syndrome (pain, swelling, erythema, and edema of the wrist). RESULTS: In all 4 cases, the US examination revealed peritendinous edema and synovial fluid within the tendon sheaths at the intersection between the first and the second dorsal extensor tendon compartments. DISCUSSION: Our experience shows that the intersection syndrome is associated with typical signs on US. This imaging modality can be considered a reliable tool for diagnosing this syndrome and may eliminate the need for other more expensive tests.

The predictive value of abnormal ultrasonographic finding for fetal trisomy in the second trimester / 대한산부인과학회지

OBJECTIVE: The purpose of this study is to evaluate obstetrical characteristics related to fetal trisomies and to survey the predictive value of abnormal second trimester ultrasonographic findings for fetal trisomies. METHODS: We reviewed the medical records of 3,023 patients who had fetal karyotyping performed between May 1989 and May 2005, and then retrospectively examined 71 cases of trisomies diagnosed prenatally. All patients were classified into three groups according to indications of fetal karyotyping such as positive triple test result, maternal age older than 35 at delivery, and abnormal ultrasonographic findings and we compared the obstetrical features and positive predictive value of each indication. RESULTS: Thirty two cases (39%) of total trisomies had abnormal ultrasonographic findings. Abnormal ultrasonographic findings were significantly more common (16 cases, 76%, P=0.001) in fetuses with trisomy 18 compared to the other trisomies. Structural anomalies in fetuses with trisomy were usually detected in late second trimester. The positive predictive value of abnormal ultrasonographic findings was 3.0% (elderly woman; 1.4%, positive triple test; 1.7%) in trisomy 21 and 6.3% (elderly woman; 1.6%, positive triple test; 1.8%) in both trisomy 21 and 18. CONCLUSION: The positive predictive value of abnormal ultrasonographic findings for diagnosis of fetal trisomy is higher than the other indications for fetal karyotyping. In addition, screening of trisomy 18 with an ultrasonography may be still more important because the majority of fetuses with trisomy 18 show various congenital anomalies.

Dolor pélvico en niñas y adolescentes: hallazgos ultrasonográficos / Pelvic pain in children and adolescents girls: ultrasonographic findings

Describir los hallazgos ultrasonográficos en niñas y adolescentes que consultaron por dolor pélvico entre marzo y octubre de 2008. Estudio descriptivo. Muestra: 190 niñas y adolescentes que cumplieron con los criterios de inclusión. Servicio de Ginecología Infanto Juvenil del Hospital de Niños "Dr. José Manuel de los Ríos". En total se estudiaron 11 niñas, 76 adolescentes tempranas, 75 en adolescencia media y 21 en adolescencia tardía. Los grupos fueron homogéneos para las medidas uterinas y ováricas. 57 pacientes consultaron por dolor pélvico, 9 por dismenorrea y 3 por hallazgo ultrasonográfico de tumor parauterino. En el grupo de edad que más hallazgos se encontraron fue en la adolescencia temprana (34 pacientes). En el 67,9 por ciento no se encontró ningún hallazgo y el 32,1 por ciento se encontraron hallazgos ultrasonográficos. El 16 por ciento consultó por dolor pélvico agudo y el 84 por ciento por dolor pélvico crónico. El 77,4 por ciento consultó por dolor pélvico de tipo punzante y el 22,6 por ciento por dolor pélvico tipo cólico. El folículo dominante fue el hallazgo ultrasonográfico encontrado en el mayor porcentaje de las pacientes (10,5 por ciento). El mayor porcentaje de las pacientes incluidas en este estudio tenía ultrasonido pélvico normal. El ultrasonido es el método aceptado como la primera modalidad diagnóstica por imágenes en pacientes con dolor pélvico

To describe the ultrasonographic findings in children and adolescent girls that consulted for pelvic pain between March and October 2008. Descriptive study. Sample: 190 children and adolescent girls that met the inclusion criteria. Servicio de Ginecologia Infanto Juvenil del Hospital de Niños "Dr. Jose Manuel de los Rios". A total of 11 children, 76 early, 75 medium and 21 late adolescent girls were studied. The groups were homogeneous for the uterine and ovarian measurements. 57 patients consulted for pelvic pain, 9 for dysmenorrhea and 3 for ultrasonographic findings of para uterine tumors. The age group with more findings was the early adolescence (34 patients). In 67.9 percent there were no findings and in 32.1 percent ultrasonographic changes were found. The 16 percent consulted for acute pelvic pain and 84 percent for chronic pelvic pain. The 77.4 percent consulted for sharp pelvic pain and 22,6 percent for colic pelvic pain. The dominant follicle was the ultrasonographic finding in the higher percentage of patients (10,5 percent). The higher percentage of patients included in this study had a normal pelvic ultrasound. The ultrasound is the accepted method for diagnostic of images in patients with pelvic pain

Bilaterality of Papillary Thyroid Carcinoma: Analysis of Clinicopathologic Factors and the Value of Preoperative Ultrasonography / 대한내분비외과학회지

PURPOSE: Papillary thyroid carcinoma (PTC) is the most common endocrine malignancy. The extent of the initial surgical treatment for PTC is still controversial and the bilaterality of PTC is an important factor for determining the extent of surgical resection. The aim of this study was to analyze clinicopathologic factors and the value of preoperative ultrasonography (PU) for bilateral tumor. METHODS: We retrospectively reviewed clinicopathologic factors and PU findings of 91 patients who underwent total thyroidectomy for PTC at the Dongguk University Ilsan Hospital from January 2006 to April 2009. RESULTS: Of the 91 patients, 28 (30.7%) had bilateral PTC in postoperative pathology. Of these 28 patients, only 18 patients (64.3%) were checked for bilateral PTC by PU findings and fine needle aspiration cytology. Sensitivity and specificity for bilaterality of PTC were 64.3% and 85.7%, respectively. The presence of benign nodules or malignant nodules in the same lobe in PU (P=0.008) and post-operative pathology (P=0.014) were statistically correlated with bilaterality. CONCLUSION: For the surgical care of PTC, bilaterality must always be considered, even though the tumor is diagnosed unilateral small PTC. PU in PTC patients has limited diagnostic value for bilateral PTC.

Cornual pregnancy diagnosed at 9 weeks of atypical ultrasonographic findings / 대한산부인과학회지

A cornual pregnancy occurs when the conceptus implants at the cornus of the uterus which is the junction between the fallopian tube and uterine cavity. Cornual pregnancy is a rare form of ectopic pregnancy and its diagnosis is difficult. It accounts for 2 to 4% of tubal pregnancy and rupture usually occurs between 8 weeks and 16 weeks of gestation. The rich vascularity in this location makes the rupture particularly dangerous, resulting in higher maternal mortality. We have experienced a case of unruptured cornual pregnancy at 9 weeks of atypical ultrasonographic findings, which was hourglass appearance. We present this case with a brief review of the literature.

Comparison of the Ultrasonographic Study and the Electrodiagnostic Study on the Ulnar Neuropathy around the Elbow Region

OBJECTIVE: To evaluate the relationship between the electrophysiologic findings and the ultrasonographic findings of the ulnar neuropathy around the elbow. METHOD: We examed 20 elbows with the ulnar neuropathy around the elbow and 22 healthy elbows. We measured the cross-sectional area (CSA) and the diameters of the long, short axis of the ulnar nerve at the swollen portion and the compressed portion by ultrasonography. RESULTS: The CSA, diameters on the longitudinal and transverse view of the swollen portion of the ulnar nerve of the patients group was larger than that of the control group (p0.05). There was significant correlation between the decrement of the nerve conduction velocity across elbow and the increment of the diameter on the swollen portion on the longitudinal and transverse view (r=0.541, 0.466, p<0.05, respectively). CONCLUSION: The difference of diameter between swollen and compressed portion of the ulnar nerve on the ultrasonography was correlated with the conduction velocity decrement on the electrophysiologic study.

The Comparison of Therapeutic Effect of Shoulder Pain with Simple and Mixed Type in Patients with Adhesive Capsulitis

OBJECTIVE: This study was designed to divide the patients with adhesive capsulitis into two groups by ultrasonographic findings, such as simple capsulitis and mixed capsulitis patients and to compare the improvement of range of motion and shoulder pain in one month. METHOD: We examined 50 patients with adhesive capsulitis diagnosed by physical examination. In accordance to ultrasonographic findings, we divided the patients into two groups such as capsulitis and mixed capsulitis in patients with adhesive capsulitis. We treated shoulder pain by intraarticular injection and medication. We examined the range of motion of shoulder and visual analogue scale at each visiting time in a month. RESULTS: The mean age of patients was 55.3 (range: 39~77) years. There were 26 patients with simple capsulitis and 24 patients with mixed capsulitis. The average duration of pain was 16.1+/-23.9 months. There was meaningful difference of shoulder range of motion and visual analogue scale between pretreatment and posttreatment in patients with simple capsulitis and mixed capsulitis. But, there was no meaningful difference of shoulder range of motion and visual analogue scale between two groups. CONCLUSION: No specific difference was noted between the simple and the complex groups of adhesive capsulitis in the effect of treatment.