Mode of delivery preference in prenatal genetic counseling between English- and Spanish-speaking patients at two US medical institutions.

Although Hispanic individuals are at an increased risk for various genetic conditions, they have lower uptake of genetic counseling and genetic testing. Virtual appointments have many advantages that may help Spanish-speaking patients access genetic services more readily. Despite these benefits, there are limitations that may make them less attractive options for these individuals.

OBGYN providers' lack of knowledge and management of genetic risks due to advanced paternal age underscore the need for updated practice guidance.

The objective of this pilot study was to characterize healthcare professionals' knowledge of advanced paternal age (APA), the associated risks, as well as current clinical practices regarding APA. Our study utilized an online survey that questioned providers who see children with genetic conditions and patients who are or may become pregnant regarding demographic information, APA knowledge, APA guideline familiarity, and their clinical practices. A total of 67 providers responded to the survey.

Genetic counseling for advanced paternal age: A survey of genetic counselors' current practice.

Advanced paternal age (APA) has no formal definition, though many publications utilize the cutoff of fathers >40 years of age. The literature demonstrates an association between APA and certain conditions including de novo autosomal dominant disorders, birth defects, and neuropsychiatric conditions. This study surveyed 165 genetic counselors within the National Society of Genetic Counselors to assess their current approach to APA.

NIPT and Informed Consent: an Assessment of Patient Understanding of a Negative NIPT Result.

Since becoming clinically available in 2011, the use of noninvasive prenatal testing (NIPT) to screen for fetal aneuploidy has continued to increase. However, it has been questioned whether the education of patients undergoing NIPT consistently meets informed consent standards. We sought to evaluate patients' basic understanding of NIPT, such as conditions assessed and accuracy.

Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.

Carpenter syndrome is an autosomal recessive disorder comprising craniosynostosis, polysyndactyly, and brachydactyly. It occurs in approximately 1 birth per million. We present a patient with Carpenter syndrome (confirmed by molecular diagnosis) who has several unique and previously unreported manifestations including a large ovarian cyst and heterotaxy with malrotation of stomach, intestine, and liver.

Genetic counselors' experience with cell-free fetal DNA testing as a prenatal screening option for aneuploidy.

First identified in 1997, cell-free fetal DNA (cffDNA) has just recently been used to detect fetal aneuploidy of chromosomes 13, 18, and 21, showing its potential to revolutionize prenatal genetic testing as a non-invasive screening tool. Although this technological advancement is exciting and has certain medical applications, it has been unclear how it will be implemented in a clinical setting. Genetic counselors will likely be instrumental in answering that question, but to date, there is no published research regarding prenatal counselors' implementation of and experiences with cffDNA testing.

Genetic counselors' perceived responsibilities regarding reproductive issues for patients at risk for Huntington disease.

Research indicates that health care professionals' attitudes may affect patients' decisions regarding prenatal Huntington Disease testing, but few studies have sampled genetic counselors. In this qualitative study, genetic counselors described their experiences counseling individuals at risk for HD regarding reproductive decision-making. Five major research questions were investigated: 1) What are genetic counselor responsibilities? 2) What issues arise for patients and counselors? 3) How do counselors reconcile prenatal testing with presymptomatic testing? 4) To what extent are counselors' initial expectations of at-risk patients' beliefs and behaviors met? and 5) What advice would counselors offer to novice practitioners about working with this patient population? Fifteen genetic counselors experienced in counseling individuals at risk for HD participated in a semi-structured phone interview that yielded several themes.

Domains of heterochromatin protein 1 required for Drosophila melanogaster heterochromatin spreading.

Centric regions of eukaryotic genomes are packaged into heterochromatin, which possesses the ability to spread along the chromosome and silence gene expression. The process of spreading has been challenging to study at the molecular level due to repetitious sequences within centric regions. A heterochromatin protein 1 (HP1) tethering system was developed that generates "ectopic heterochromatin" at sites within euchromatic regions of the Drosophila melanogaster genome.

Conserved properties of HP1(Hsalpha).

Heterochromatin protein 1 Hsalpha (HP1(Hsalpha)) is one of three human proteins that share sequence similarity with Drosophila HP1. HP1 proteins are enriched at centric heterochromatin and play a role in chromatin packaging and gene regulation. In humans, HP1(Hsalpha) is down-regulated in highly invasive/metastatic breast cancer cells, compared to poorly invasive/non-metastatic breast cancer cells.