The rate of undetectable genetic causes by Cell-free DNA test in congenital heart defects.

OBJECTIVE: The study aimed to estimate the rate of genetic causes that were undetectable by Cell-free DNA (cfDNA) test in prenatally diagnosed congenital heart defect (CHD) cases based on an assumption that cfDNA would accurately detect common aneuploidies including trisomy 21/18/13/45X, and del22q11.2. METHODS: This study included prenatally diagnosed CHD cases with diagnostic genetic results. The possibility of false-positive/negative results from cfDNA testing was discarded. Thus, cfDNA results would be positive in common aneuploidies or del22q11.2 and negative in normal diagnostic genetic testing results or other genetic conditions. The rate of genetic causes that were undetectable by cfDNA test was estimated for all cases as well as for CHD subgroups. RESULTS: Of 302 cases, 98 (34.8%) had a type of genetic abnormalities, with 67 having common aneuploidies or del22q11.2 and 31 having other genetic conditions. The rate of genetic causes that were undetectable by cfDNA test in CHD cases was 13.2% among those with assumingly negative cfDNA screen results and 10.3% among the entire study population. These rates were similar between CHD subgroups (p > .05). The rate of genetic causes that were undetectable by cfDNA test was higher in the non-isolated cases than in the isolated ones among those with assumingly negative-screen results (20.5% and 9.9%, respectively, p = .025). CONCLUSION: In prenatally diagnosed CDH cases, a significant number of chromosomal abnormalities are still identified after diagnostic testing even if cfDNA screen is negative, and thus it is important to extensively counsel patients with negative cfDNA screen carrying a CHD-affected fetus.

Multiple spawning run contingents and population consequences in migratory striped bass Morone saxatilis.

Multiple spawning run contingents within the same population can experience varying demographic fates that stabilize populations through the portfolio effect. Multiple spawning run contingents (aka run timing groups) are reported here for the first time for striped bass, an economically important coastal species, which is well known for plastic estuarine and shelf migration behaviors. Adult Hudson River Estuary striped bass (n = 66) were tagged and tracked with acoustic transmitters from two known spawning reaches separated by 90 km. Biotelemetry recaptures for two years demonstrated that each river reach was associated with separate contingents. Time series of individual spawning phenologies were examined via nonparametric dynamic time warping and revealed two dominant time series centroids, each associated with a separate spawning reach. The lower spawning reach contingent occurred earlier than the higher reach contingent in 2017 but not in 2018. The majority (89%) of returning adults in 2018 showed the same contingent behaviors exhibited in 2017. Spawning contingents may have been cued differently by temperatures, where warming lagged 1-week at the higher reach in comparison to the lower reach. The two contingents exhibited similar Atlantic shelf migration patterns with strong summer fidelity to Massachusetts Bay and winter migrations to the southern US Mid-Atlantic Bight. Still, in 2017, differing times of departure into nearby shelf waters likely caused the early lower reach contingent to experience substantially higher mortality than the later upper reach contingent. Anecdotal evidence suggests that higher fishing effort is exerted on the early-departing individuals as they first enter shelf fisheries. Thus, as in salmon, multiple spawning units can lead to differential demographic outcomes, potentially stabilizing overall population dynamics.

Comparative migration ecology of striped bass and Atlantic sturgeon in the US Southern mid-Atlantic bight flyway.

Seasonal migrations are key to the production and persistence of marine fish populations but movements within shelf migration corridors or, "flyways", are poorly known. Atlantic sturgeon and striped bass, two critical anadromous species, are known for their extensive migrations along the US Mid-Atlantic Bight. Seasonal patterns of habitat selection have been described within spawning rivers, estuaries,and shelf foraging habitats, but information on the location and timing of key coastal migrations is limited. Using a gradient-based array of acoustic telemetry receivers, we compared the seasonal incidence and movement behavior of these species in the near-shelf region of Maryland, USA. Atlantic sturgeon incidence was highest in the spring and fall and tended to be biased toward shallow regions, while striped bass had increased presence during spring and winter months and selected deeper waters. Incidence was transient (mean = ~2 d) for both species with a pattern of increased residency (>2 d) during autumn and winter, particularly for striped bass, with many individuals exhibiting prolonged presence on the outer shelf during winter. Flyways also differed spatially between northern and southern migrations for both species and were related to temperature: striped bass were more likely to occur in cool conditions while Atlantic sturgeon preferred warmer temperatures. Observed timing and spatial distribution within the Mid-Atlantic flyway were dynamic between years and sensitive to climate variables. As shelf ecosystems come under increasing maritime development, gridded telemetry designs represent a feasible approach to provide impact responses within key marine flyways like those that occur within the US Mid-Atlantic Bight.

The importance of prenatal 3-dimensional sonography in a case of a segmental overgrowth syndrome with unclear chromosomal microarray results.

PIK3CA-related overgrowth spectrum, caused by mosaic mutations in the PIK3CA gene, is associated with regional or generalized asymmetric overgrowth of the body or a body part in addition to other clinical findings. Three-dimensional ultrasonography (3-D US) has the capability to display structural abnormalities in soft tissues or other organs, thereby facilitating identification of segmental overgrowth lesions. We present a case suspected of having a segmental overgrowth disorder based on 3-D US, whose chromosomal microarray result was abnormal, but apparently was not the cause of the majority of the fetus's clinical features.

Training to Provide Psychiatric Genetic Counseling: How Does It Impact Recent Graduates' and Current Students' Readiness to Provide Genetic Counseling for Individuals with Psychiatric Illness and Attitudes towards this Population?

Mental illness is extremely common and genetic counselors frequently see patients with mental illness. Genetic counselors report discomfort in providing psychiatric genetic counseling (GC), suggesting the need to look critically at training for psychiatric GC. This study aimed to investigate psychiatric GC training and its impact on perceived preparedness to provide psychiatric GC (preparedness). Current students and recent graduates were invited to complete an anonymous survey evaluating psychiatric GC training and outcomes. Bivariate correlations (p<.10) identified variables for inclusion in a logistic regression model to predict preparedness. Data were checked for assumptions underlying logistic regression. The logistic regression model for the 286 respondents [χ2(8)=84.87, p<.001] explained between 37.1% (Cox & Snell R2=.371) and 49.7% (Nagelkerke R2=.497) of the variance in preparedness scores. More frequent psychiatric GC instruction (OR=5.13), more active methods for practicing risk assessment (OR=4.43), and education on providing resources for mental illness (OR=4.99) made uniquely significant contributions to the model (p<.001). Responses to open-ended questions revealed interest in further psychiatric GC training, particularly enabling "hands on" experience. This exploratory study suggests that enriching GC training through more frequent psychiatric GC instruction and more active opportunities to practice psychiatric GC skills will support students in feeling more prepared to provide psychiatric GC after graduation.

Prenatal diagnosis of inverted duplication deletion 8p syndrome mimicking trisomy 18.

Inverted duplication deletion of 8p (invdupdel[8p]) is a well-described and uncommon chromosomal rearrangement. The majority of the reported cases have revealed no life-threatening malformations. Although the invdupdel[8p] syndrome in children with central nervous system abnormalities has been reported before, we present the first prenatal microarray diagnosis of invdupdel[8p] syndrome mimicking trisomy 18 due to similar sonographic features. Contrary to reported cases with invdupdel[8p] syndrome, the present case had severe polyvalvular dysplasia and the infant deceased at day 12 of life. In this case, we also emphasize the diagnostic power of microarray analysis in detecting the underlying genetic causes for fetuses with multiple congenital anomalies. © 2017 Wiley Periodicals, Inc.