Adolescents comprise a portion of women who present to genetic counselors prenatally. In this study, prenatal genetic counselors (N=128) were surveyed regarding their perceptions of genetic counseling sessions for adolescent (ages 13-19) and adult (ages 20-34) patients. Counselors perceived differences in methods used to communicate risk information for adolescent versus adult populations. Respondents reported that it is more difficult for adolescents to understand prognostic information than adults. They also noted differences between adult and adolescent populations with respect to the people who typically accompany the patient to the session. Respondents stated that adolescents were accompanied by a parent, friend, or sibling, which differed from adults who reportedly were accompanied by a significant other, father of the pregnancy, or by no one. These findings suggest it is important to recognize that adolescent patients are in a unique stage of their development which may influence a prenatal genetic counseling session.

There are multiple etiologies for fetal dilated bowel loops on ultrasonography (US), and we present a unique case of male siblings with a forkhead box P3 (FOXP3) mutation. Both children presented with fetal bowel anomalies on prenatal US. Family histories of cystic fibrosis and immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome were reported. Amniocentesis in both pregnancies identified a normal male karyotype and the familial mutation associated with IPEX syndrome. IPEX syndrome is one of a group of conditions known as congenital diarrhea disorders. Other congenital diarrhea disorder cases have presented with similar prenatal US findings. As a result of these associations, we suggest considering IPEX syndrome as a potential cause of fetal bowel anomalies, particularly with a known family history. However, continued research into the phenotypic and genotypic correlations for IPEX syndrome is likely needed to better understand this possible prenatal presentation.

Illicit activity on the Web often uses noisy text to obscure information between client and seller, such as the seller's phone number. This presents an interesting challenge to language understanding systems; how do we model adversarial noise in a text extraction system? This paper addresses the sex trafficking domain, and proposes some of the first neural network architectures to learn and extract phone numbers from noisy text. We create a new adversarial advertisement dataset, propose several RNN-based models to solve the problem, and most notably propose a visual character language model to interpret unseen unicode characters. We train a CRF jointly with a CNN to improve number recognition by 89% over just a CRF. Through data augmentation in this unique model, we present the first results on characters never seen in training.

INTRODUCTION: While ACOG, ACMG and NSGC recommend reproductive carrier screening for cystic fibrosis (CF) and spinal muscular atrophy (SMA), there are no guidelines to date routinely recommending expanded carrier screening for all reproductive patients. We sought to assess, by ancestry, the proportion of additional individuals who would be identified via an expanded panel compared to CF/SMA alone. METHODS: We deduced the expected observation rate for CF and SMA based on published literature and our laboratory's detection rate for individuals of Hispanic, Caucasian, African American (AA), and Asian descent. We also reviewed observed detection rates for the same patient populations from a 180‐disorder expanded carrier screen completed over an 18 month period. RESULTS: Expanded carrier screening was performed on 2,468 self-reported Hispanic, 921 Caucasian, 339 AA, and 174 Asian individuals. Combining expected carrier frequencies for CF and SMA and observed frequencies for all other diseases on the expanded panel, 1 in 2 Caucasians and 1 in 5 individuals of other backgrounds would be expected to be positive. Compared with the expected carrier frequencies of CF and SMA alone, an expanded carrier screen increased the probability of identifying carriers by 10-, 7-, 9-, and 9-fold, respectively, for the four patient populations. CONCLUSION: Compared to testing for CF and SMA alone, an expanded carrier screen increased the probability of detecting a carrier for a disorder by 7- to 10-fold. Expanded carrier screening will identify a substantially greater number of carriers among various ancestries compared to testing according to current guidelines alone.