BACKGROUND Many of the genetic childhood disorders leading to death in the pre- or neonatal period or during early childhood follow autosomal recessive modes of inheritance and bear specific challenges for genetic counseling and prenatal diagnostics. Parents are carriers but clinically unaffected, and diseases are rare but have recurrence risks of 25% in the same family. Often, affected childre...

Since the birth of first IVF baby, Louise Brown, in 1978, researchers and clinicians have sought ways to improve pregnancy outcomes through embryo selection. In 1990s, blastomere biopsy fluorescence situ hybridization (FISH) were developed human embryos for assessment aneuploidy translocations. Limitations number chromosomes that could be assayed with FISH lead development comparative genomic (...

Meiotic errors during oocyte maturation are considered the major contributors to embryonic aneuploidy and failures in human IVF treatment. Various technologies have been developed to screen polar bodies, blastomeres and trophectoderm cells for chromosomal aberrations. Array-CGH analysis using bacterial artificial chromosome (BAC) arrays is widely applied for preimplantation genetic diagnosis (P...

The advent of human in vitro fertilization (IVF) over 30 years ago has made the oocyte and preimplantation embryo uniquely accessible. This accessibility has given rise to new micromanipulation techniques, such as intracytoplasmic sperm injection for treatment of male infertility, as well as embryo biopsy for preimplantation diagnosis of both genetic disease and aneuploidy, a major cause of ear...

The frequency of inherited malformations as well as genetic disorders in newborns account for around 3-5%. These frequency is much higher in early stages of pregnancy, because serious malformations and genetic disorders usually lead to spontaneous abortion. Prenatal diagnosis allowed identification of malformations and/or some genetic syndromes in fetuses during the first trimester of pregnancy...

F.Fiorentino,,, A.Biricik, H.Karadayi, H.Berkil, G.Karlikaya, S.Sertyel, D.Podini, M.Baldi, M.C.Magli, L.Gianaroli and S.Kahraman EmbryoGen (Centre for Preimplantation Genetic Diagnosis), Rome, Reproductive Endocrinology and Genetics Unit, Istanbul Memorial Hospital, Istanbul, Turkey and GENOMA (Molecular Genetics Laboratory), Rome, Italy To whom correspondence should be addressed at: EmbryoGen...

Background Embryo morphology has been proposed as an alternative marker of chromosomal status. The objective of this retrospective cohort study was to investigate the association between the chromosomal status on day 3 of embryo development and blastocyst morphology.Embryo morphology has been proposed as an alternative marker of chromosomal status. The objective of this retrospective cohort stu...

Background: Preimplantation genetic diagnosis - PGD is currently an established procedure allowing genetic research of oocyte or embryo before implantation to the uterus. Spinal muscular atrophy (SMA) is a neurodegenerative disorder, being the second most common lethal autosomal recessive disease in Caucasians, after cystic fibrosis. There are three clinically different types of which type I (W...