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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 May 13, 2014

 

A "heel prick test" in the first days of life reveals, through a tiny amount of blood
taken from the newborn heel, about five to 54 different health conditions. Should we
also make a record of the infant's entire genome from this bood for future reference?






WHO Child Growth Charts

 

 

 

Public perception will affect newborn testing

While most Canadians say they would participate in public health programs to screen newborns for specific genetic conditions, only 80 per cent are willing to screen the entire newborns' genome.

Most newborns in North America have a "heel prick test" in their first day or two of life. The tiny amount of blood taken from the heel is tested for about five to 54 predictable health conditions, depending on the state or province the family lives in. Some conditions commonly tested for are cystic fibrosis, the enzyme deficiency phenylketonuria or PKU, and hypothyroidism, a thyroid hormone deficiency.


The "heel prick test" is done to identify and treat diseases before irreversible damage has occurred and prevent or reduce developmental or neurologic health issues. These public health measures are not mandatory, but parental consent is typically implied because newborn screening is considered a standard of care.


Dr. Yvonne Bombard, (genomics and health services researcher in the Li Ka Shing Knowledge Institute of St. Michael's Hospital and assistant professor at the University of Toronto's Institute of Health Policy, Management and Evaluation), adds that technology has evolved to the point where we could even now scan a baby's entire DNA sequence — not just conditions that can be treated in infancy — for such things as whether the baby carries the BRCA1 or BRCA2 genes associated with breast and ovarian cancer, or if the child has a genetic predisposition to Alzheimer's.

"Where do we draw the line on what we screen for?" she asks. "Public opinion should matter when we make these decisions. Newborn screening programs require almost 100 per cent participation to be effective and if we lose people's trust, people may opt out."

Dr. Bombard explores those issues in a paper published in the European Journal of Human Genetics.

She and other researchers conducted an online public survey finding that practically all respondents (94%) would be willing to participate in newborn screening for specific genetic conditions that can be treated in childhood. But, a large majority (80%) would also participate in screening their newborns' genomes for any and all forms of disease.

Dr. Bombard feels some of the issues around sequencing newborns' genomes include freedom of choice and the danger of over diagnosis.

"Does whole genome sequencing take away a child's choice to remain unaware of his or her future health risks?" she asks. "It could generate a lot of genetic information that we don't understand. For example, there are genetic variants in the cystic fibrosis gene that are not known to be associated with cystic fibrosis. What do we do about that information? Monitor the child? Overtreat the child?"

"We can filter out what we look at in a genome. That is, while typing the whole book, we don't have to read every sentence. But as a public health program we don't have the capacity to give parents a menu of options and ask them what health information they want to select. So, it's important the public understands this new technology has limitations. As public health officials, we want to draw an appropriate line on what we screen for in newborns."


"It's essential that we respond to technological developments with a full understanding of the needs of newborns, children and the desires of their families. When we decide that it makes sense to screen for a particular condition in a newborn, we need to ensure that our whole system works to maximize benefits and minimize harm."

Fiona A. Miller, the study's principal investigator and associate professor in U of T's Institute of Health Policy, Management and Evaluation.


Abstract
Growing discussion on the use of whole-genome or exome sequencing (WG/ES) in newborn screening (NBS) has raised concerns regarding the generation of incidental information on millions of infants annually. It is unknown whether integrating WG/ES would alter public expectations regarding participation in universal NBS. We assessed public willingness to participate in NBS using WG/ES compared with current NBS. Our secondary objective was to assess the public’s beliefs regarding a parental responsibility to participate in WG/ES-based NBS compared with current NBS. We examined self-reported attitudes regarding willingness to participate in NBS using a cross-sectional national survey of Canadian residents recruited through an internet panel, reflective of the Canadian population by age, gender and region. Our results showed that fewer respondents would be willing to participate in NBS using WG/ES compared with NBS using current technologies (80 vs 94%, P<0.001), or perceived a parental responsibility to participate in WG/ES-based NBS vs current NBS (30 vs 48%, P<0.001). Our findings suggest that integrating WG/ES into NBS might reduce participation, and challenge the moral authority that NBS programmes rely upon to ensure population benefits. These findings point to the need for caution in the untargeted use of WG/ES in public health contexts.

Authors
Yvonne Bombard, Fiona A Miller, Robin Z Hayeems, Carolyn Barg, Celine Cressman, June C Carroll, Brenda J Wilson, Julian Little, Denise Avard,Michael Painter-Main, Judith Allanson, Yves Giguere and Pranesh Chakraborty

This study received funding from the Canadian Institutes for Health Research.

About St. Michael's Hospital
St Michael's Hospital provides compassionate care to all who enter its doors. The hospital also provides outstanding medical education to future health care professionals in 27 academic disciplines. Critical care and trauma, heart disease, neurosurgery, diabetes, cancer care, care of the homeless and global health are among the hospital's recognized areas of expertise. Through the Keenan Research Centre and the Li Ka Shing International Healthcare Education Centre, which make up the Li Ka Shing Knowledge Institute, research and education at St. Michael's Hospital are recognized and make an impact around the world. Founded in 1892, the hospital is fully affiliated with the University of Toronto.

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