OBJECTIVE To report the outcomes of more than 100 cycles of preimplantation genetic diagnosis for monogenetic diseases. DESIGN Case series. SETTING Tertiary assisted reproductive centre in Hong Kong, where patients needed to pay for the cost of preimplantation genetic diagnosis on top of standard in-vitro fertilisation charges. PATIENTS Patients undergoing preimplantation genetic diagnosi...

Background: Mammalian preimplantation development is a complex process involving dramatic changes in the transcriptional architecture. However, it is still unclear about the crucial transcriptional network and key hub genes that regulate the proceeding of preimplantation embryos. Materials and Methods: Through single-cell RNAsequencing (RNA-seq) of both human and mouse preimplantation embryos, ...

Preimplantation genetic diagnosis (PGD) is a reproductive technology used with an in vitro fertilization (IVF) cycle to increase the potential for a successful pregnancy and delivery. The most common applications for PGD include testing for extra or missing chromosomes (aneuploidy screening), familial structural chromosome rearrangements, and diagnosis of genetic disease in couples of increased...

Genomic imbalances are a major cause of constitutional and acquired disorders. Therefore, aneuploidy screening has become the cornerstone of preimplantation, prenatal and postnatal genetic diagnosis, as well as a routine aspect of the diagnostic workup of many acquired disorders. Recently, array comparative genomic hybridization (array CGH) has been introduced as a rapid and high-resolution met...

Preimplantation genetic diagnosis (PGD) involves testing for specific genetic conditions prior to the implantation [5] of an embryo in the uterine wall. This form of genetic screening has been made possible by the growth of in-vitro fertilization [6] (IVF) technology, which allows for the early stages of development to occur in a laboratory dish rather than in vivo [7]. The purpose of PGD is to...

Preimplantation genetic diagnosis (PGD) involves testing for specific genetic conditions prior to the implantation [5] of an embryo in the uterine wall. This form of genetic screening has been made possible by the growth of in-vitro fertilization [6] (IVF) technology, which allows for the early stages of development to occur in a laboratory dish rather than in vivo [7]. The purpose of PGD is to...

Preimplantation genetic diagnosis (PGD) is now considered routine in IVF laboratories with micromanipulation capability and access to genetic diagnostic services. The past two decades have witnessed a dramatic increase in the use of PGD, the number of cycles performed, and the indications for which PGD has been used. This increase has been mirrored by a slow, but steady, increase in the range o...