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Welcome to The Visible Embryo, a comprehensive educational resource on human development from conception to birth.

The Visible Embryo provides visual references for changes in fetal development throughout pregnancy and can be navigated via fetal development or maternal changes.

The National Institutes of Child Health and Human Development awarded Phase I and Phase II Small Business Innovative Research Grants to develop The Visible Embryo. Initally designed to evaluate the internet as a teaching tool for first year medical students, The Visible Embryo is linked to over 600 educational institutions and is viewed by more than one million visitors each month.

Today, The Visible Embryo is linked to over 600 educational institutions and is viewed by more than 1 million visitors each month. The field of early embryology has grown to include the identification of the stem cell as not only critical to organogenesis in the embryo, but equally critical to organ function and repair in the adult human. The identification and understanding of genetic malfunction, inflammatory responses, and the progression in chronic disease, begins with a grounding in primary cellular and systemic functions manifested in the study of the early embryo.

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Pregnancy Timeline by SemestersFetal liver is producing blood cellsHead may position into pelvisBrain convolutions beginFull TermWhite fat begins to be madeWhite fat begins to be madeHead may position into pelvisImmune system beginningImmune system beginningPeriod of rapid brain growthBrain convolutions beginLungs begin to produce surfactantSensory brain waves begin to activateSensory brain waves begin to activateInner Ear Bones HardenBone marrow starts making blood cellsBone marrow starts making blood cellsBrown fat surrounds lymphatic systemFetal sexual organs visibleFinger and toe prints appearFinger and toe prints appearHeartbeat can be detectedHeartbeat can be detectedBasic Brain Structure in PlaceThe Appearance of SomitesFirst Detectable Brain WavesA Four Chambered HeartBeginning Cerebral HemispheresFemale Reproductive SystemEnd of Embryonic PeriodEnd of Embryonic PeriodFirst Thin Layer of Skin AppearsThird TrimesterSecond TrimesterFirst TrimesterFertilizationDevelopmental Timeline
CLICK ON weeks 0 - 40 and follow along every 2 weeks of fetal development
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Home | Pregnancy Timeline | News Alerts |News Archive Jan 23, 2015

Karyomapping1 is an off-the shelf test for detecting inherited single-gene
disorders in embryos before implanting them back in the uterus.
Image Credit: Illumina

 






 

 

New way to detect genetic errors in IVF embryos?

New research has identified karyomapping as a viable and cost-effective method of detecting a wide range of genetic diseases in IVF embryos.

The current method involves using preimplantation genetic diagnosis (PGD) for disorders resulting from a single defective gene (monogenic) is expensive, time-consuming and requires tailoring a test to each couple and/or disorder.

Research from the University of Kent, led by Professor Darren Griffin of the University's School of Biosciences, in collaboration with researchers at Illumina, Inc. Cambridge, showed that karyomapping could be used, simultaneously, as a new approach to PGD for monogenic disorders with the potential for the detection of chromosomal disorders.

The new research is described in a paper published in December 2014, titled "Karyomapping - a comprehensive means of simultaneous monogenic and cytogenetic PGD: Comparison with standard approaches in real time for Marfan syndrome, published by the " Journal of Assisted Reproduction and Genetics.

The paper describes how in one clinical case study, a male partner was affected with Marfan syndrome, an autosomal dominant disease affecting the connective tissue which can lead to heart (aorta) and/or visual (retina) problems. Single cells from IVF embryos were biopsied and analysed using standard PGD approaches including minisequencing for the Marfan mutation and analysis of three informative linked markers (work performed by the Dagan Wells laboratory at the University of Oxford and Reprogenetics UK).

Karyomapping was used to confirm the diagnosis utilizing a rapid 24-hour protocol enabling the researchers to perform karyomapping in a clinically applicable setting.

In a second clinical study, published earlier in 2014, karyomapping was used to confirm a PGD case detecting both chromosomal count (euploidy/aneuploidy) as well as a monogenic disorder (Smith-Lemli-Opitz (SLO) syndrome) simultaneously. In this study, the family underwent PGD with simultaneous diagnosis of both SLO status and chromosome constitution using standard approaches. Again, the diagnosis was confirmed simultaneously by karyomapping. (Live birth after PGD with confirmation by a comprehensive approach (karyomapping) for simultaneous detection of monogenic and chromosomal disorders. Natesan et al, 2014).

Both clinical cases led to the birth of a healthy child, unaffected by Marfan syndrome and SLO respectively.

The paper Karyomapping - a comprehensive means of simultaneous monogenic and cytogenetic PGD: Comparison with standard approaches in real time for Marfan syndrome, is available at: http://link.springer.com/article/10.1007/s10815-014-0405-y

Introduction
Preimplantation genetic diagnosis (PGD) of single gene defects by genetic analysis of single or small numbers of cells biopsied from in vitro fertilization (IVF) embryos is clinically well-established. Targeted haplotyping by multiplex fluorescent polymerase chain reaction (PCR) of closely linked or intragenic short tandem repeat (STR) markers combined with direct mutation detection improves the accuracy of single cell analysis significantly and minimizes potential errors caused by undetected allele dropout (ADO) or contamination [1]. Allele dropout refers to the failure of one of the two alleles of a heterozygous locus to amplify. This makes a heterozygous cell appear homozygous at the affected locus, potentially leading to misdiagnosis. Furthermore, using high order multiplex protocols, this approach has been extended to multiple loci, including analysis of the Human leukocyte antigen (HLA) region for selection of embryos tissue matched to existing sick children and diagnosis of translocation chromosome imbalance. However, the development of patient locus-specific protocols, and testing with single cells, is time consuming and labor intensive. Also, this targeted approach only provides limited information on chromosome, aneuploidy, which is recognized to be a major cause of IVF failure and prenancy loss.

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