GenomeSmart can help you navigate the different reproductive genetic testing options to allow you to make informed decisions for the health of yourself and your family.
American Urological Association (AUA) Lecture given at the American Society of Andrology (ASA) 40th annual conference, April 18 – 21, 2015 in Salt Lake City, Utah.
There I go again, a Western guy giving a lecture to an Eastern crowd. What team do I play on, you ask? In fact, I am honored to give a keynote at the First Integrative Fertility Symposium in Vancouver. Ok, call me a “swingman,” but the Easterners have a lot up their medical sleeves too. Ask Western medicine how to help a guy relax, and they’ll say, “don’t work so hard and take this pill.” Ask an Easterner, and they might suggest acupuncture, mindfulness and meditation. Which approach is better: a patch or a fix? You decide. Read more on my blog at > http://bit.ly/1EMuRFF
PGD combines advances in Molecular genetics and in assisted reproductive technology and is conducted before the embryo is placed inside the womb of the woman.Pre implantation genetic diagnosis was introduced to prevent the inheritance of sex linked diseases
American Urological Association (AUA) Lecture given at the American Society of Andrology (ASA) 40th annual conference, April 18 – 21, 2015 in Salt Lake City, Utah.
There I go again, a Western guy giving a lecture to an Eastern crowd. What team do I play on, you ask? In fact, I am honored to give a keynote at the First Integrative Fertility Symposium in Vancouver. Ok, call me a “swingman,” but the Easterners have a lot up their medical sleeves too. Ask Western medicine how to help a guy relax, and they’ll say, “don’t work so hard and take this pill.” Ask an Easterner, and they might suggest acupuncture, mindfulness and meditation. Which approach is better: a patch or a fix? You decide. Read more on my blog at > http://bit.ly/1EMuRFF
PGD combines advances in Molecular genetics and in assisted reproductive technology and is conducted before the embryo is placed inside the womb of the woman.Pre implantation genetic diagnosis was introduced to prevent the inheritance of sex linked diseases
IVF is a technique of Assisted Reproductive Technology (ART) used to cure infertility and finally helps in conceiving. The IVF process involves ovarian stimulation to enhance egg production, egg and sperm retrieval, fertilizing egg using sperms to create an embryo in the lab and finally transferring the embryo to the intended mother’s uterus.
This is an overview of PGD, based on a talk in Hangzhou, china in 2009-11-22.
It contains (not freat) sound that you can hear by clicking on the sound symbol on the lower right corner of the slide.
investigation of infertility with focus on genetic basis of infertilityPathKind Labs
Infertility if quite common. Understanding genetic basis of infertility can help in making the right decision on what diseases can be transmitted to the offspring and which IVF technique would be most helpful in overcoming infertility.
Acquired Disorders of Spermatogenesis By Paul J. Turek MD, Emeritus Professor...The Turek Clinics
Lecture on Acquired Disorders of Spermatogenesis written and presented by Paul J. Turek MD, Emeritus Professor and Endowed Chair in Urology Education, Department of Urology, University of California San Francisco and current Director of the The Turek Clinic, in San Francisco, California.
Human reproduction is remarkably inefficient; Only 420 are born alive out of 1000 fertilizations, nearly 70% of human conceptions do not survive to live birth. The stillbirth in india is highest in the world 7% to 14% in different states Odisha 8% Karnataka 14% (of course reported only) Recurrent pregnancy loss is a psychologically stressful diagnosis for couples, in approximately 50% of cases, no cause will be found. The number of evidence-based practices available for guidance is limited. This confluence of factors presents a challenge for clinicians. However, in studies of interventions aimed at reducing rates of miscarriage in women with otherwise unexplained RPL, control groups experience a live birth rate of up to 87% with no intervention. Thus, one of the most significant things we can do when caring for these complex patients is to offer them emotional support and accurate information. As more work is done in this emerging area of reproductive science, we will be able to shed more light on this complex problem.
Optimizing male infertility treatment in ART- Dr Parul Katiyar, Max Hospitals...Dr Parul Katiyar
Male factor itself is responsible for infertility in approx 30-40% couples and contributes to infertility in another approx 20%. In many men having normal sperm parameters on semenogrom,
sperms do not function in a manner necessary for fertility and can still cause infertility. This often goes undetected unless specifically sought for. This presentation presents a clinical approach to male factor infertility, specifically related to functional aspects of male fertility.
In the future , IVF will not only be for infertile women but will be directed to help fertile couples getting health babies!! How !! this talk will help to illustrate that
Practice Bulletin #226, Screening for Chromosomal AbnormalitiesVõ Tá Sơn
Practice Bulletin #226, Screening for Chromosomal Abnormalities,
Hướng dẫn sàng lọc các bất thường nhiễm sắc thể
ACOG & SMFM 2020
Bs Võ Tá Sơn
0978846100 zalo
IVF is a technique of Assisted Reproductive Technology (ART) used to cure infertility and finally helps in conceiving. The IVF process involves ovarian stimulation to enhance egg production, egg and sperm retrieval, fertilizing egg using sperms to create an embryo in the lab and finally transferring the embryo to the intended mother’s uterus.
This is an overview of PGD, based on a talk in Hangzhou, china in 2009-11-22.
It contains (not freat) sound that you can hear by clicking on the sound symbol on the lower right corner of the slide.
investigation of infertility with focus on genetic basis of infertilityPathKind Labs
Infertility if quite common. Understanding genetic basis of infertility can help in making the right decision on what diseases can be transmitted to the offspring and which IVF technique would be most helpful in overcoming infertility.
Acquired Disorders of Spermatogenesis By Paul J. Turek MD, Emeritus Professor...The Turek Clinics
Lecture on Acquired Disorders of Spermatogenesis written and presented by Paul J. Turek MD, Emeritus Professor and Endowed Chair in Urology Education, Department of Urology, University of California San Francisco and current Director of the The Turek Clinic, in San Francisco, California.
Human reproduction is remarkably inefficient; Only 420 are born alive out of 1000 fertilizations, nearly 70% of human conceptions do not survive to live birth. The stillbirth in india is highest in the world 7% to 14% in different states Odisha 8% Karnataka 14% (of course reported only) Recurrent pregnancy loss is a psychologically stressful diagnosis for couples, in approximately 50% of cases, no cause will be found. The number of evidence-based practices available for guidance is limited. This confluence of factors presents a challenge for clinicians. However, in studies of interventions aimed at reducing rates of miscarriage in women with otherwise unexplained RPL, control groups experience a live birth rate of up to 87% with no intervention. Thus, one of the most significant things we can do when caring for these complex patients is to offer them emotional support and accurate information. As more work is done in this emerging area of reproductive science, we will be able to shed more light on this complex problem.
Optimizing male infertility treatment in ART- Dr Parul Katiyar, Max Hospitals...Dr Parul Katiyar
Male factor itself is responsible for infertility in approx 30-40% couples and contributes to infertility in another approx 20%. In many men having normal sperm parameters on semenogrom,
sperms do not function in a manner necessary for fertility and can still cause infertility. This often goes undetected unless specifically sought for. This presentation presents a clinical approach to male factor infertility, specifically related to functional aspects of male fertility.
In the future , IVF will not only be for infertile women but will be directed to help fertile couples getting health babies!! How !! this talk will help to illustrate that
Practice Bulletin #226, Screening for Chromosomal AbnormalitiesVõ Tá Sơn
Practice Bulletin #226, Screening for Chromosomal Abnormalities,
Hướng dẫn sàng lọc các bất thường nhiễm sắc thể
ACOG & SMFM 2020
Bs Võ Tá Sơn
0978846100 zalo
Post Covid-19 Restaurant Innovative Trendskanew396
There’s no denying that the hospitality industry has been one of the worst affected by the global pandemic that has swept the globe. Read some of the latest restaurant trends that have evolved since the coronavirus outbreak.
With the world feeling ever so unsettled at the moment, it can be hard to imagine what a post-COVID existence might look like. However, businesses are being encouraged to picture that world, so that they can make plans for the future and hit the ground running once they are fully out of lockdown and back to ‘normal’. Take a look at our top tips on how to pivot post-crisis.
What are the Pitfalls of Ignoring a Patient’s Family Historykanew396
The process of collecting a patient’s family history helps engage and educate them about the possibility of a hereditary condition in the family. Going through the process of risk assessment also gives breathing room to a patient as they decide on genetic testing, which can be complicated.
Expanded carrier testing can look for an increased risk of dozens of recessive genetic conditions, depending on the specific test you take. GenomeSmart can help you decide whether expanded carrier screening is right for you.
Huntington’s Disease – Can genetic testing help?kanew396
Huntington’s disease is a disease that causes the breakdown and death of nerve cells in the brain. It’s progressive, which means it steadily worsens over time. Most people inherit the disorder from a parent, but in some cases, a person can have Huntington’s without a family history. GenomeSmart can help you understand the role of genetic testing as you plan your family.
Health, Safety and Security through Compliancekanew396
At Stream Data Centers, we design facilities and train our teams to comply with rigorous standards set by trade groups and certifying organizations, maintaining relevant certifications and attestations.
Comprehensive Health and Safety Consulting Services from Stream Data Centerskanew396
A robust health, safety and environment (HSE) strategy not only saves lives — it also fosters a culture of responsibility that can boost both morale and productivity. As a proven leader in workplace safety, Stream Critical Environments Services delivers comprehensive or targeted HSE services that work for any industry.
Facilities Management Services from Stream Data Centerskanew396
Stream’s Critical Environments Services practice drives mission-critical uptime, without compromising health, safety and security. Our Services brings passion and commitment to the delivery of facilities management and mission-critical services for a wide range of operations.
Parrot Feather -Systemic Options for Controlkanew396
Aquacide Pellets are an excellent systemic option for Parrot Feather control. Aquacide Pellets will kill the entire weed root system and all. When applied according to label directions, Aquacide Pellets will not harm, fish, frogs or crawfish.
What are Systemic Option for Parrot Feather Controlkanew396
Aquacide Pellets are an excellent systemic option for Parrot Feather control. Aquacide Pellets will kill the entire weed root system and all. When applied according to label directions, Aquacide Pellets will not harm, fish, frogs or crawfish.
There are some benefits associated with Cattails, but there are several problems also. The benefit of Cattails providing erosion control is also one of the biggest problems. Getting rid of Common Cattails can be accomplished with a variety of methods. Read about 3 easy ways to get rid of commo cattails.
Water Weed Cutter -Underwater Weed Cutter Designed for Easy Usekanew396
The Weed Razer is a lightweight, hand-operated, underwater weed cutter. Designed for easy use by a single person. The Weed Razer Express and Weed Razer are fixed swath cutters. The Weed Razer is best suited to small localized weed patches. Use on heavy weeds such as Cattails is not recommended.
Report Back from SGO 2024: What’s the Latest in Cervical Cancer?bkling
Are you curious about what’s new in cervical cancer research or unsure what the findings mean? Join Dr. Emily Ko, a gynecologic oncologist at Penn Medicine, to learn about the latest updates from the Society of Gynecologic Oncology (SGO) 2024 Annual Meeting on Women’s Cancer. Dr. Ko will discuss what the research presented at the conference means for you and answer your questions about the new developments.
Title: Sense of Taste
Presenter: Dr. Faiza, Assistant Professor of Physiology
Qualifications:
MBBS (Best Graduate, AIMC Lahore)
FCPS Physiology
ICMT, CHPE, DHPE (STMU)
MPH (GC University, Faisalabad)
MBA (Virtual University of Pakistan)
Learning Objectives:
Describe the structure and function of taste buds.
Describe the relationship between the taste threshold and taste index of common substances.
Explain the chemical basis and signal transduction of taste perception for each type of primary taste sensation.
Recognize different abnormalities of taste perception and their causes.
Key Topics:
Significance of Taste Sensation:
Differentiation between pleasant and harmful food
Influence on behavior
Selection of food based on metabolic needs
Receptors of Taste:
Taste buds on the tongue
Influence of sense of smell, texture of food, and pain stimulation (e.g., by pepper)
Primary and Secondary Taste Sensations:
Primary taste sensations: Sweet, Sour, Salty, Bitter, Umami
Chemical basis and signal transduction mechanisms for each taste
Taste Threshold and Index:
Taste threshold values for Sweet (sucrose), Salty (NaCl), Sour (HCl), and Bitter (Quinine)
Taste index relationship: Inversely proportional to taste threshold
Taste Blindness:
Inability to taste certain substances, particularly thiourea compounds
Example: Phenylthiocarbamide
Structure and Function of Taste Buds:
Composition: Epithelial cells, Sustentacular/Supporting cells, Taste cells, Basal cells
Features: Taste pores, Taste hairs/microvilli, and Taste nerve fibers
Location of Taste Buds:
Found in papillae of the tongue (Fungiform, Circumvallate, Foliate)
Also present on the palate, tonsillar pillars, epiglottis, and proximal esophagus
Mechanism of Taste Stimulation:
Interaction of taste substances with receptors on microvilli
Signal transduction pathways for Umami, Sweet, Bitter, Sour, and Salty tastes
Taste Sensitivity and Adaptation:
Decrease in sensitivity with age
Rapid adaptation of taste sensation
Role of Saliva in Taste:
Dissolution of tastants to reach receptors
Washing away the stimulus
Taste Preferences and Aversions:
Mechanisms behind taste preference and aversion
Influence of receptors and neural pathways
Impact of Sensory Nerve Damage:
Degeneration of taste buds if the sensory nerve fiber is cut
Abnormalities of Taste Detection:
Conditions: Ageusia, Hypogeusia, Dysgeusia (parageusia)
Causes: Nerve damage, neurological disorders, infections, poor oral hygiene, adverse drug effects, deficiencies, aging, tobacco use, altered neurotransmitter levels
Neurotransmitters and Taste Threshold:
Effects of serotonin (5-HT) and norepinephrine (NE) on taste sensitivity
Supertasters:
25% of the population with heightened sensitivity to taste, especially bitterness
Increased number of fungiform papillae
Prix Galien International 2024 Forum ProgramLevi Shapiro
June 20, 2024, Prix Galien International and Jerusalem Ethics Forum in ROME. Detailed agenda including panels:
- ADVANCES IN CARDIOLOGY: A NEW PARADIGM IS COMING
- WOMEN’S HEALTH: FERTILITY PRESERVATION
- WHAT’S NEW IN THE TREATMENT OF INFECTIOUS,
ONCOLOGICAL AND INFLAMMATORY SKIN DISEASES?
- ARTIFICIAL INTELLIGENCE AND ETHICS
- GENE THERAPY
- BEYOND BORDERS: GLOBAL INITIATIVES FOR DEMOCRATIZING LIFE SCIENCE TECHNOLOGIES AND PROMOTING ACCESS TO HEALTHCARE
- ETHICAL CHALLENGES IN LIFE SCIENCES
- Prix Galien International Awards Ceremony
These simplified slides by Dr. Sidra Arshad present an overview of the non-respiratory functions of the respiratory tract.
Learning objectives:
1. Enlist the non-respiratory functions of the respiratory tract
2. Briefly explain how these functions are carried out
3. Discuss the significance of dead space
4. Differentiate between minute ventilation and alveolar ventilation
5. Describe the cough and sneeze reflexes
Study Resources:
1. Chapter 39, Guyton and Hall Textbook of Medical Physiology, 14th edition
2. Chapter 34, Ganong’s Review of Medical Physiology, 26th edition
3. Chapter 17, Human Physiology by Lauralee Sherwood, 9th edition
4. Non-respiratory functions of the lungs https://academic.oup.com/bjaed/article/13/3/98/278874
Couples presenting to the infertility clinic- Do they really have infertility...Sujoy Dasgupta
Dr Sujoy Dasgupta presented the study on "Couples presenting to the infertility clinic- Do they really have infertility? – The unexplored stories of non-consummation" in the 13th Congress of the Asia Pacific Initiative on Reproduction (ASPIRE 2024) at Manila on 24 May, 2024.
Ozempic: Preoperative Management of Patients on GLP-1 Receptor Agonists Saeid Safari
Preoperative Management of Patients on GLP-1 Receptor Agonists like Ozempic and Semiglutide
ASA GUIDELINE
NYSORA Guideline
2 Case Reports of Gastric Ultrasound
ARTIFICIAL INTELLIGENCE IN HEALTHCARE.pdfAnujkumaranit
Artificial intelligence (AI) refers to the simulation of human intelligence processes by machines, especially computer systems. It encompasses tasks such as learning, reasoning, problem-solving, perception, and language understanding. AI technologies are revolutionizing various fields, from healthcare to finance, by enabling machines to perform tasks that typically require human intelligence.
micro teaching on communication m.sc nursing.pdfAnurag Sharma
Microteaching is a unique model of practice teaching. It is a viable instrument for the. desired change in the teaching behavior or the behavior potential which, in specified types of real. classroom situations, tends to facilitate the achievement of specified types of objectives.
Lung Cancer: Artificial Intelligence, Synergetics, Complex System Analysis, S...Oleg Kshivets
RESULTS: Overall life span (LS) was 2252.1±1742.5 days and cumulative 5-year survival (5YS) reached 73.2%, 10 years – 64.8%, 20 years – 42.5%. 513 LCP lived more than 5 years (LS=3124.6±1525.6 days), 148 LCP – more than 10 years (LS=5054.4±1504.1 days).199 LCP died because of LC (LS=562.7±374.5 days). 5YS of LCP after bi/lobectomies was significantly superior in comparison with LCP after pneumonectomies (78.1% vs.63.7%, P=0.00001 by log-rank test). AT significantly improved 5YS (66.3% vs. 34.8%) (P=0.00000 by log-rank test) only for LCP with N1-2. Cox modeling displayed that 5YS of LCP significantly depended on: phase transition (PT) early-invasive LC in terms of synergetics, PT N0—N12, cell ratio factors (ratio between cancer cells- CC and blood cells subpopulations), G1-3, histology, glucose, AT, blood cell circuit, prothrombin index, heparin tolerance, recalcification time (P=0.000-0.038). Neural networks, genetic algorithm selection and bootstrap simulation revealed relationships between 5YS and PT early-invasive LC (rank=1), PT N0—N12 (rank=2), thrombocytes/CC (3), erythrocytes/CC (4), eosinophils/CC (5), healthy cells/CC (6), lymphocytes/CC (7), segmented neutrophils/CC (8), stick neutrophils/CC (9), monocytes/CC (10); leucocytes/CC (11). Correct prediction of 5YS was 100% by neural networks computing (area under ROC curve=1.0; error=0.0).
CONCLUSIONS: 5YS of LCP after radical procedures significantly depended on: 1) PT early-invasive cancer; 2) PT N0--N12; 3) cell ratio factors; 4) blood cell circuit; 5) biochemical factors; 6) hemostasis system; 7) AT; 8) LC characteristics; 9) LC cell dynamics; 10) surgery type: lobectomy/pneumonectomy; 11) anthropometric data. Optimal diagnosis and treatment strategies for LC are: 1) screening and early detection of LC; 2) availability of experienced thoracic surgeons because of complexity of radical procedures; 3) aggressive en block surgery and adequate lymph node dissection for completeness; 4) precise prediction; 5) adjuvant chemoimmunoradiotherapy for LCP with unfavorable prognosis.
Reproductive Genetics: Introduction to Genetic Testing Options
1. Reproductive Genetics: Introduction to
genetic testing options
7 min readReproductive Genetics
Reproductive genetic testing can be a valuable tool in the reproductive health
care of women and their families. Genetic disorders and congenital anomalies
affect about 6% of live births, so it is important to be proactive and consider
genetic testing. There are various genetic tests available to couples who are
expecting or planning to conceive. Depending on whether a couple is having
difficulty conceiving or carrying a pregnancy to term, has a family history of a
genetic condition, or is already pregnant, different genetic testing options may
be appropriate. Choosing a test depends on a couple’s specific risk factors,
pregnancy timeline, and how the pregnancy will be conceived (for example,
with assistance from artificial reproductive technology or by natural means).
These are some of the tests available in reproductive genetics:
Fertility testing
Carrier testing
Pre-implantation genetic testing/diagnosis for those considering in
vitro fertilization
Prenatal testing
Maternal serum testing, First trimester screening, Second
trimester screening, Integrated screening and sequential
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2. Chorionic villus sampling/ amniocentesis
Non-invasive prenatal screening
Timeline of reproductive genetic
testing
Genetic testing can be considered before, during and after pregnancy. The
choice of type of testing a couple chooses depends on their risks and
personal choice. Newborn testing is a state mandated test which tests for
different genetic disorders depending on the state you reside in.
What is fertility testing? (Timeline:
before pregnancy)
When a couple is having difficulty conceiving both may consider genetic
fertility testing. There may be genetic causes for either male or female
infertility. Assistive reproductive technology (ART) may be useful in treating
some genetic forms of infertility (for example, cystic fibrosis in males and
fragile X syndrome in females). Use of sperm or egg donations or adoption
may also be considered by those affected by infertility who wish to grow their
families.
3. What is carrier testing? (Timeline:
before, during, and after pregnancy)
Carrier testing determines whether a prospective parent carries a genetic
mutation associated with an inherited disorder. Traditionally it was
recommended to those from certain ethnicities but now it is offered to all
women of reproductive age. It can test for mutations for some of the most
common genetic conditions (such as cystic fibrosis or spinal muscular
atrophy) as well as rare disorders seen mostly in certain ethnicities. Carriers
are usually not affected by the genetic condition as recessive inherited
disorders are only seen when individual has two affected genes. Technological
advances allow gene panels to test prospective parents for alterations to
hundreds of disease-associated genes simultaneously so that they may know
if future children might be at increased risk of being affected by a genetic
condition. Carrier testing can be performed at any time before or during a
pregnancy, but preconception carrier testing affords the most options to
reduce the risk of future children being affected by an inherited condition.
What is pre-implantation genetic
screening (PGS)/ diagnosis (PGD)?
(Timeline: before pregnancy)
Genetic condition risk reduction for those considering IVF
Assisted Reproductive Technology (ART) is exactly what it sounds like – helping
people have babies with procedures such as in vitro fertilization (IVF,
colloquially referred to as “test tube babies”). Something IVF allows is pre-
implantation genetic diagnosis. If you know a genetic condition runs in your or
your partner’s families a few cells can be safely removed from an early embryo
and tested for the inherited condition. The couple may then choose to
implant embryos that are unaffected. Even in the absence of a familial
condition, ART enables screening for chromosome-level changes that are
thought to account for many early miscarriages and some genetic conditions.
4. Couples may then implant embryos with the best chance of developing into a
baby. Before such screening became routine fertility clinics used to transfer
multiple embryos to increase the likelihood of a successful pregnancy, which
often resulted in twin or triplet pregnancies that can be riskier both for
mothers and infants. Now fertility clinics can obtain nearly the same rate of
successful live births transferring just a single embryo that has been screened
for chromosomal changes. Finally, if a couple is using an anonymous sperm
or egg donor, carrier screening may provide peace of mind that the donor will
not be at an increased risk of passing on a disease-causing gene to a
biological child.
What is prenatal screening/ diagnosis?
(Timeline: during pregnancy)
Prenatal tests are tests done on a pregnant woman to understand her risks of
having a child affected by a genetic disorder. This is different from carrier
screening because it involves just the woman and is targeted to find risks for a
specific pregnancy. The tests have the potential to shed light on possible
pregnancy outcomes as well as provide reassurance about chances of a
healthy baby. Tests also give a woman an opportunity to choose whether to
continue a pregnancy in case the expected child has a birth defect or genetic
disorder. Even if she decides to continue, the test helps determine the need
for prenatal or early infant therapy for her expected child when possible and
prepare for bearing and rearing of a child with special needs. Prenatal tests
can be screening or diagnostic. A screening test helps identify risk
(probability), whereas a diagnostic test is definitive test, (giving a yes or no
answer) typically done after a screening test. Screening is usually done by
taking a blood sample from the mother, a simple noninvasive method.
Diagnostic tests are more invasive and sample the cells from the fluid/tissue in
which the fetus grows. Maternal blood tests are more often a part of routine
prenatal care, but as genetic testing becomes more available and affordable
prospective parents may be interested in newer types of genetic testing like
non-invasive prenatal testing (NIPT) which have benefits over the traditional
tests. Two commonly offered diagnostic tests are chorionic villus sampling
and amniocentesis.
5. Chorionic villus sampling (10-13 weeks)/amniocentesis (15-24 weeks)
Chorionic villus sampling (CVS) and amniocentesis refer to the procedures by
which a needle is used to withdraw cells for fetal diagnostic testing. CVS can
be performed earlier during a pregnancy than amniocentesis, but
amniocentesis generally carries less risks to a pregnancy and provides more
material for genetic testing. Your doctor may recommend these tests if you
have an abnormal finding on a screening test, such as a maternal serum test
(for example, the Quad screen), the non-invasive prenatal screening (NIPT), or
on an ultrasound. Screening tests (such as maternal serum screening like
QUAD screen) measure the levels of specific substances in the mother’s blood
that many indicate a trisomy (like the extra copy of chromosome 21 in Down
Syndrome) or a neural tube defect (such as spina bifida). In the past,
amniocentesis and chromosomal karyotypes were performed in women over
35 to test for chromosomal abnormalities but today they are considered
mostly if there is a positive screening test. Testing can also be done ifthere is a
family history or previous affected child, parents know of because of which a
fetus may be at risk for a specific genetic condition. The samples taken are
tested by Chromosomal microarrays, Karyotyping or FISH techniques to look
for missing or extra pieces of DNA that can cause disease.
Non-invasive prenatal screening (NIPS, 10+ weeks)
Pregnant women carry some fetal DNA in their blood. Non-invasive prenatal
screening (NIPS), sometimes referred to as cell-free DNA screening, takes
advantage of the low levels of fetal DNA in mother’s blood for genetic testing.
This technology is currently most sensitive for detecting trisomy (an extra copy
of a chromosome) such as trisomy 21 that causes Down Syndrome and
certain other chromosomal changes. Ultimately NIPS is still a screening test
and an abnormal result should be followed by diagnostic testing.
GenomeSmart can help you navigate the different reproductive genetic
testing options to allow you to make informed decisions for the health of
yourself and your family!
Non-invasive pre-natal screening
(10+weeks)
6. NIPS works because fetal DNA is present in mother’s blood
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