Project description:Autosomal recessive congenital ichthyosis is a genetically and phenotypically heterogeneous group of skin disorders, including harlequin ichthyosis (HI), lamellar ichthyosis, and bullous congenital ichthyosiform erythroderma. HI is the most phenotypically severe autosomal recessive congenital ichthyosis associated with the mutation of the adenosine triphosphate-binding cassette subfamily A member 12 (ABCA12) gene. The clinical manifestations include generalized hyperkeratotic plaques and deep fissures, ectropion, eclabium, and contractures. However, the severe HI may easily be misdiagnosed as epidermolysis bullosa or syndromic ichthyosis. Meanwhile, no consensus exists about the best used in clinical trials or clinical practice when more elaborate scoring systems have been proposed to evaluate skin xerosis, palmoplantar keratoderma, and disease extension an accurate prenatal diagnosis is necessary. Until the ABCA12 gene was identified as the pathogenic gene, prenatal diagnosis of HI had been performed by the invasive techniques of fetal skin biopsy. Now, advances in ultrasound technology and fetal DNA-based analysis have replaced it. The mortality rate is markedly high and prompt; prenatal diagnosis of neonate HI is critical for appropriate perinatal and postnatal management. It is also essential to prepare parents for future pregnancies and reduce the family's physical and mental distress and financial burden. This report presents a rare case of harlequin ichthyosis diagnosed by the ultrasound and discusses the significance of prenatal ultrasound diagnosis and molecular diagnosis in the prenatal diagnosis of HI.
Project description:Vaginal foreign bodies usually present with bleeding and foul-smelling discharge. It is often difficult to detect and identify vaginal foreign bodies in pediatric cases without any symptoms. Therefore, detection of vaginal foreign bodies using noninvasive methods, like transabdominal ultrasonography, is important in pediatric patients.
Project description:IntroductionIntrauterine microcephaly is a complex and lifelong condition that poses significant ethical challenges for clinicians and parents. The prognosis of microcephaly is highly variable and depends on the underlying cause and severity. In addition, microcephaly is often associated with various comorbidities, including intellectual disability, developmental delay, and epilepsy. Ultrasonography (US) is currently the most commonly used imaging modality for detecting microcephaly in the second trimester of pregnancy. However, antenatal brain magnetic resonance imaging (MRI) is increasingly being used as a more sensitive tool to identify structural abnormalities that may suggest a specific diagnosis. In this study, we report a case series of microcephaly diagnosed through the combination of MRI and US.Patient concernsHow to utilize a combination of MRI and US to screen for fetal microcephaly.DiagnosisBased on the results of US and MRI examinations, patient 1 was found to have other craniocerebral malformations, patient 2 demonstrated macrogyria, and patient 3 exhibited skull irregularities.InterventionsThe pregnancies of all 3 patients were terminated through the induction of labor by injecting Rivanol into the amniotic cavity.OutcomesThe 3 patients were discharged after a period of observation.ConclusionUS is an important tool for diagnosing fetal microcephaly. However, MRI can overcome the limitations of US and detect additional brain structural abnormalities, thereby providing more specific and valuable prenatal diagnostic information. Therefore, combining MRI and US has significant diagnostic value for fetal microcephaly.
Project description:Transabdominal sonography (TAS) and Transvaginal sonography (TVS) were compared for follicular monitoring in 73 patients of infertility. These patients were referred for follicular monitoring in normal and stimulated cycles from infertility clinic. Patient compliance and acceptance was excellent for TVS technique as compared to TAS technique. The overall resolution of ovarian and follicular anatomy was much better in TVS. With TAS only 35.6% had good visualisation of follicles as compared to 80.8% (p<0.05) in TVS. TVS offered advantage of much better detection rate of smaller follicles (<10mm) and higher accuracy in assessing number of follicles.
Project description:BackgroundTriphalangeal thumb-polysyndactyly syndrome (TPT-PS) is a rare type of congenital limb deformity, and most studies focus on the genetics. Case reports of the sonographic characteristics of TPT-PS during pregnancy are rare.Case summaryA 30-year-old woman (G3P1) who had pregnancies with TPT-PS fetuses is presented. The possibility of TPT-PS was shown by ultrasound performed at the 19th wk of pregnancy, featuring hands with six metacarpals, an extra digit at the 5th finger side, and an abnormally widened thumb. Whole-exome sequencing was subsequently conducted. The results showed that exons 1-17 of the LMBR1 gene had a heterozygous duplication, with a length of approximately 253 kb.ConclusionWe suggest prenatal ultrasound examination combined with genetic testing to diagnose TPT-PS accurately and to help clinicians and patients make decisions.
Project description:To compare the prenatal diagnostic performance as well as appearance of ultrasonic details between 2-dimensional ultrasonography (2DUS) combined with 3-dimensional ultrasonography (3DUS) and 2DUS alone for hypospadias. A total of 47 fetuses were enrolled and examined by 2DUS and then 3DUS. Postnatal follow-up data were obtained and 28 cases were confirmed of hypospadias. Although not statistically significant, there was a trend toward higher AUC (0.85 vs. 0.76; p = 0.08), ACC (85.1 vs. 76.6%; p = 0.22), SEN (85.7 vs. 78.6%; p = 0.63), and SPE (84.2 vs. 73.7%; p = 0.50) for 2DUS combined with 3DUS compared with 2DUS alone. The agreement between both methods was moderate [kappa = 0.592]. Both modalities showed accurately the short penis and blunt tip of the penis. 2DUS in combination with 3DUS showed more cases in other detailed features, such as "chordee", a "hooded" incomplete prepuce, and so on. Overall 2DUS combined with 3DUS showed a trend toward higher performance compared with 2DUS alone for the diagnosis of hypospadias, although the difference was not statistically significant. 3DUS is a useful complement for 2DUS in the diagnosis of fetal hypospadias and may provide more detailed information related to its diagnosis and prognosis.