Preconception carrier screening in couples seeking IVF: exploring the patient perspective.

Research Question: What is the level of understanding, and what are the attitudes and considerations regarding preconception carrier screening (PCS) among couples seeking IVF or intracytoplasmic sperm injection (ICSI)?

Design: A mixed-methods design was used. Nine interviews were conducted with couples or individual partners (n = 16) who had an initial consultation for IVF/ICSI in the 2 years preceding this study. A questionnaire was completed by 115 participants.

Reproductive options and genetic testing for patients with an inherited cardiac disease.

In the past decade, genetic testing for cardiac disease has become part of routine clinical care. A genetic diagnosis provides the possibility to clarify risk for relatives. For family planning, a genetic diagnosis provides reproductive options, including prenatal diagnosis and preimplantation genetic testing, that can prevent an affected parent from having a child with the genetic predisposition.

Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.

High-throughput sequencing technologies have increasingly led to discovery of disease-causing genetic variants, primarily in postnatal multi-cell DNA samples. However, applying these technologies to preimplantation genetic testing (PGT) in nuclear or mitochondrial DNA from single or few-cells biopsied from in vitro fertilised (IVF) embryos is challenging. PGT aims to select IVF embryos without genetic abnormalities.

Clinical Guideline for Preimplantation Genetic Testing in Inherited Cardiac Diseases.

Background: Preimplantation genetic testing (PGT) is a reproductive technology that selects embryos without (familial) genetic variants. PGT has been applied in inherited cardiac disease and is included in the latest American Heart Association/American College of Cardiology guidelines. However, guidelines selecting eligible couples who will have the strongest risk reduction most from PGT are lacking.

Detection of Copy-Number Variants in Mosaic Basal Cell Nevus Syndrome.

Basal cell nevus syndrome (BCNS) is an inherited disorder characterized mainly by the development of basal cell carcinomas (BCCs) at an early age. BCNS is caused by heterozygous small-nucleotide variants (SNVs) and copy-number variants (CNVs) in the Patched1 () gene. Genetic diagnosis may be complicated in mosaic BCNS patients, as accurate SNV and CNV analysis requires high-sensitivity methods due to possible low variant allele frequencies.