Group meditation, addressing stigma, and "mental health days": Recommendations for integrating self-awareness practices into genetic counseling graduate programs.

Genetic counseling graduate programs provide a rigorous curriculum comprised of coursework encompassing counseling and medical genetics, fieldwork, and research experience. Students face similar emotional and mental demands as practicing genetic counselors while also experiencing stressors commonly associated with graduate study. Increased self-awareness may help combat these stressors.

Building a foundation in self-awareness: Genetic counseling students' experiences with self-care, reflection, and mindfulness.

Stress and anxiety are significant concerns for practicing genetic counselors as well as genetic counseling students and can have downstream effects on patient care. Prior research suggests graduate-level training in self-awareness practices such as self-care, reflection, and mindfulness could have lasting effects for genetic counselors, their patients, and the profession as a whole. This mixed-methods study assessed self-awareness among 154 genetic counseling graduate students using the Self-Reflection and Insight Scale (SRIS), the Mindfulness Attention Awareness Scale (MAAS), and self-described experiences with self-awareness practice.

Prenatal ultrasound diagnosis of Seckel syndrome with bi-allelic variant in TRAIP via exome sequencing.

We present two consecutive pregnancies with shared ultrasound findings-sloping forehead, micrognathia, ambiguous genitalia, brachycephaly, short extremities, single umbilical artery, choroid plexus cysts, and clenched hands. Subsequent whole exome sequencing identified TRAIP gene variants implicating diagnosis of Seckel syndrome 9 (SCKL9). Prenatal testing in subsequent pregnancy identified one variant.

Cantú syndrome: report of nine new cases and expansion of the clinical phenotype.

Cantú syndrome, a rare disorder of congenital hypertrichosis, characteristic facial anomalies, cardiomegaly, and osteochondrodysplasia was first described in 1982 by Cantú. Twenty-three cases of Cantú syndrome have been reported to date. The pathogenesis of this rare autosomal dominant condition is unknown.

FGF10 missense mutations in aplasia of lacrimal and salivary glands (ALSG).

Aplasia of lacrimal and salivary glands (ALSG) is an autosomal dominant congenital anomaly characterized by aplasia, atresia or hypoplasia of the lacrimal and salivary systems. Affected individuals present with irritable eyes and dryness of the mouth with variable expressivity. Mutations in FGF10 were recently described in ALSG and in lacrimo-auriculo-dento-digital (LADD) syndrome which are overlapping clinical entities.