Prenatal Diagnosis of Williams-Beuren Syndrome Based on Suspected Fetal Hypotonia in Early Pregnancy.

In this report, we describe a rare case of prenatal diagnosis of Williams-Beuren syndrome (WBS). While the prenatal diagnosis of WBS is very rare, in the current case, WBS was diagnosed in early pregnancy. The key element was the detection of fetal hands hypotonia and generalized fetal hypotonia at 17 weeks of gestation. This led to the diagnosis of WBS by molecular karyotyping, specifically array comparative genomic hybridization (arrayCGH) of the fetal DNA. The genetic material was acquired by extraction from the fetal cells which are abundant in the amniotic fluid drawn by amniocentesis. Clinical hypotonia of the affected individuals is a clinical characteristic that is widely associated with WBS; however, fetal hypotonia has not been described as a diagnostic criterion for the prenatal diagnosis of WBS.

Inference and Learning for Generative Capsule Models.

Capsule networks (see Hinton et al., 2018) aim to encode knowledge of and reason about the relationship between an object and its parts. In this letter, we specify a generative model for such data and derive a variational algorithm for inferring the transformation of each model object in a scene and the assignments of observed parts to the objects. We derive a learning algorithm for the object models, based on variational expectation maximization (Jordan et al., 1999). We also study an alternative inference algorithm based on the RANSAC method of Fischler and Bolles (1981). We apply these inference methods to data generated from multiple geometric objects like squares and triangles ("constellations") and data from a parts-based model of faces. Recent work by Kosiorek et al. (2019) has used amortized inference via stacked capsule autoencoders to tackle this problem; our results show that we significantly outperform them where we can make comparisons (on the constellations data).

Fetal Hand Abnormalities in the First-Trimester Scan: A Report of Two Cases.

Two cases of fetal hand abnormalities are presented in this report. The first one is a case of unilateral fetal syndactyly detected in the first trimester routine scan, resulting in the early diagnosis of a severe genetic condition by invasive testing and early termination of pregnancy. By doing so, we ensured that the woman was managed in the most appropriate way. In the second case, we describe a fetus with bilateral hand polydactyly, which was combined with a cardiac defect - incompatible with extrauterine life. This was once again diagnosed during the first trimester scan. An uncomplicated termination of pregnancy was achieved in the first trimester of pregnancy.

Extramedullary Leukemia, Presenting at the Cervix of the Uterus.

Extramedullary relapse of leukemia is encountered more often than in the past. The reason is that leukemia survival rates increase with improved treatment schemes. We present a rare case of involvement of the cervix of the uterus in an adult B Acute Lymphocytic Leukemia (B-ALL) survivor. Relapses affect various organs but rarely the female genital tract. Nevertheless, in this case, a woman with a history of induced amenorrhea due to treatment for leukemia presented to the gynecologist because of vaginal spotting. Colposcopy evaluation of the vagina/cervix, sonography and cytological and histological sampling established the diagnosis of leukemia relapse in the cervix of the uterus. Under these circumstances, our study highlights the rare extramedullary presentation of leukemia in the cervix of the uterus of a young lady considered to be disease-free and listed for bone marrow transplantation. In this rare case of relapse in the cervix of the uterus, Pap smears alarmed physicians, and radiology examinations assisted the diagnostic workup. Still, only biopsy, microscopic evaluation, and immunohistochemistry studies established the exact diagnosis. Prognosis in the situation of extramedullary disease relapse in the female genital tract was poor, but gynecologists' high suspicion led to a prompt diagnosis. Survival is in general limited, but together with high suspicion, multidisciplinary team involvement is imperative to improve the reduced chances of survival.

Ascites in the Puerperium in the Context of a Woman with Turner Syndrome Who Conceived through Assisted Reproductive Technology.

The case is about a young female who delivered twins by caesarean section (CS). On the 4th postoperative day, she presented with ascites which was resistant to empirical antibiotic and diuretic treatment. The woman was affected by Turner syndrome (TS); she had a medical background of chronic use of hormonal medication since puberty and conceived through ART- (assisted reproduction techniques-) IVF-oocyte donation. It is important to exhibit high suspicion for clot formation in the hepatic vasculature during the puerperium, especially in the case of history of chronic hormone treatment. Ascites albumin gradient and Doppler values lead to the diagnosis of thrombosis and the administration of high doses of anticoagulants is considered to be fundamental.