An update of preimplantation genetic diagnosis in gene diseases, chromosomal translocation, and aneuploidy screening

Preimplantation genetic diagnosis (PGD) is gradually widely used in prevention of gene diseases and chromosomal abnormalities. Much improvement has been achieved in biopsy technique and molecular diagnosis. Blastocyst biopsy can increase diagnostic accuracy and reduce allele dropout. It is cost-effective and currently plays an important role. Whole genome amplification permits subsequent individual detection of multiple gene loci and screening all 23 pairs of chromosomes. For PGD of chromosomal translocation, fluorescence in-situ hybridization (FISH) is traditionally used, but with technical difficulty. Array comparative genomic hybridization (CGH) can detect translocation and 23 pairs of chromosomes that may replace FISH. Single nucleotide polymorphisms array with haplotyping can further distinguish between normal chromosomes and balanced translocation. PGD may shorten time to conceive and reduce miscarriage for patients with chromosomal translocation. PGD has a potential value for mitochondrial diseases. Preimplantation genetic haplotyping has been applied for unknown mutation sites of single gene disease. Preimplantation genetic screening (PGS) using limited FISH probes in the cleavage-stage embryo did not increase live birth rates for patients with advanced maternal age, unexplained recurrent abortions, and repeated implantation failure. Polar body and blastocyst biopsy may circumvent the problem of mosaicism. PGS using blastocyst biopsy and array CGH is encouraging and merit further studies. Cryopreservation of biopsied blastocysts instead of fresh transfer permits sufficient time for transportation and genetic analysis. Cryopreservation of embryos may avoid ovarian hyperstimulation syndrome and possible suboptimal endometrium

Oocyte banking for anticipated gamete exhaustion (AGE) is a preventive intervention, neither social nor nonmedical

The scope of female fertility preservation through cryopreservation of oocytes or ovarian cortex has widened from mainly oncological indications to a variety of fertility-threatening conditions. So far, no specific universally accepted denomination name has been given to cryopreservation of oocytes or ovarian cortex for the prevention of age-related fertility decline. We argue that the commonly used phrases 'social' and 'nonmedical freezing' to denote the indication for cryopreservation are not entirely correct. We suggest 'AGE banking', as this has not only the advantage of being catchy but also depicts the exact indication for the strategy, anticipated gamete exhaustio

International comparison of parenting styles in ICSI, IVF and natural conception families: results from a European study

In studies comparing ART children born in different countries cultural factors mediate outcomes on child development and parenting. The aim of the study was to investigate whether the variability between the parents living in different cultures is the same regardless of whether these parents conceived after ICSI-IVF or naturally. Questionnaires measuring parental wellbeing, attitudes to family life and parent-child relationships were distributed to parents of 5-year-old ICSI, IVF and natural conceived (NC) control children in the UK (n = 510), Belgium (n = 512), Denmark and Sweden (n = 400). Participation rates were not known for every conception group in each country. However, the participation rate was 45% in the ICSI and IVF conception groups in Belgium, 90% in the ICSI conception group in the UK and 82%, 76% and 56% in the ICSI, IVF and NC groups, respectively, in Denmark and Sweden. In the UK mothers and fathers experienced less marital satisfaction compared to their counterparts in the other countries. Compared to the mothers in Belgium and in the Nordic countries, the mothers in the UK who conceived after ICSI, IVF or naturally reported more stress from parenting. In Belgium ICSI, IVF and NC mothers were highly committed to work while Belgian fathers were least committed to parenting when compared to fathers in Nordic countries and the UK. Mothers in Nordic countries differed from other mothers in that they described fewer negative feelings towards their ICSI, IVF or NC offspring. Although international multi-centre ART follow-up studies help to investigate the wellbeing of ART children and parents the effect of living in a particular culture or nation needs to be taken into account