Pregnancy can be diagnosed through several presumptive signs and tests. Presumptive signs include missed periods, morning sickness, breast changes, and increased urination. Tests such as a urine or blood test can detect human chorionic gonadotropin (HCG) levels. An ultrasound can visualize and examine the fetus, and listen for a heartbeat starting at around 12 weeks. More definitive tests include examining the softening of the cervix and uterus, feeling fetal movements, and medical tests such as amniocentesis that analyze amniotic fluid cells. Prenatal diagnosis helps manage the pregnancy and plan for any complications or decisions.
Lecture on prenatal genetic diagnostic techniques and their value in detection of prenatal genetic anomalies. This lecture details techniques employed in the common diagnostic interventions used in prenatal period and their usefulness.
Prenatal Testing, deteksi kelainan bawaan sejak dalam kandunganHendrik Sutopo
Pengenalan mengenai prenatal diagnosis.
Memberikan gambaran sekilas mengenai cara-cara untuk mengetahui kelainan bawaan sejak janin dalam kandungan.
lebih ditujukan untuk kalangan medis.
Non Invasive Prenatal Testing (NIPT)
Lecture on prenatal genetic diagnostic techniques and their value in detection of prenatal genetic anomalies. This lecture details techniques employed in the common diagnostic interventions used in prenatal period and their usefulness.
Prenatal Testing, deteksi kelainan bawaan sejak dalam kandunganHendrik Sutopo
Pengenalan mengenai prenatal diagnosis.
Memberikan gambaran sekilas mengenai cara-cara untuk mengetahui kelainan bawaan sejak janin dalam kandungan.
lebih ditujukan untuk kalangan medis.
Non Invasive Prenatal Testing (NIPT)
presented by HAFIZ M WASEEM
university of education LAHORE Pakistan
i am from mailsi vehari and studied in lahore
bsc in science college multan
msc from lahore
methods of Chromosomal Evaluation in Amniocentesis- Define, Time for test, C...sonal patel
methods of Chromosomal Evaluation in Amniocentesis- Define, Time for test, Complications,and Chorionic Villus sampling ( CVS) , Risk of Procedure, Steps of Procedure in PPT -Define, Time for test made By sonal Patel
Majority of fetal deaths occur in the antepartum period.
There is progressive decline in maternal deaths all over the world. Currently more interest is focused to evaluate the fetal health. The primary objective of antenatal assessment is to avoid fetal death.
presented by HAFIZ M WASEEM
university of education LAHORE Pakistan
i am from mailsi vehari and studied in lahore
bsc in science college multan
msc from lahore
methods of Chromosomal Evaluation in Amniocentesis- Define, Time for test, C...sonal patel
methods of Chromosomal Evaluation in Amniocentesis- Define, Time for test, Complications,and Chorionic Villus sampling ( CVS) , Risk of Procedure, Steps of Procedure in PPT -Define, Time for test made By sonal Patel
Majority of fetal deaths occur in the antepartum period.
There is progressive decline in maternal deaths all over the world. Currently more interest is focused to evaluate the fetal health. The primary objective of antenatal assessment is to avoid fetal death.
Hello everyone
This presentation will give a insight into the recent advances in fetal therapy. Hope it might help you
Thanking you
Dr Ankit gupta
MD Pediatrics
Kims karad
LAMBERT'S LAW :
when monochromatic radiation is passed through a medium the rate of the decrease in the intensity of radiation with thickness of the medium is directly proportional to intensity of the incident radiation
dI/dt α I
BEER'S LAW
According to this law, when a beam of monochromatic radiation is passed through a solution of absorbing species, the intensity of beam of monochromatic light decreases exponentially with increase in concentration of absorbing species
dI/dc α I
A man with hemophilia (a recessive, sex-linked blood clotting disorder) has a daughter of normal phenotype. She marries a man who is normal for the trait. X H - normaL X h - hemophilia.
Since this is a recessive disorder, one X H allele will give a normal phenotype. When the offspring do not have a X H and only have the X h allele/alleles they will have the hemophilia condition.
Man’s genotype is X h Y. Daughter’s genotype is X H X h (She got the X h from her father. She has a normal phenotype, so we know her other allele is X H
Daughter’s Husband is X H Y (Man is normal for the hemophilia trait).
Red-green color blindness is caused by a sex-linked recessive allele. A color-blind man marries a woman with normal vision whose father was color-blind. note: I changed the wording of this question.
Man X b Y Woman X B X b . We know this because she has normal vision (X B ). Her father was color-blind and gave her X b allele
What is the probability that their daughter will be color-blind?
note: Because they are telling you in the problem that there is a daughter, you do not have to figure in the probability that the child will be a girl.
Antigen is substance which when introduced parentally into the body stimulates the production of an antibody with which it reacts specifically and in an observable manner.
CLASSIFICATION OF ANTIGENS
Based on Immunogenicity
Complete antigen : substances with both immunogenicity and immunoreactivity Incomplete antigen
Incomplete antigen ( hapten): substances only with immunoreactivity
Hapten +carrier → complete antigen
( Immunogenicity : induction of immune response
• Immunological Reactivity: specific reaction with antibodies or sensitized cells)
HAPTENS
The term Hapten was given by the immunologist Karl Landsteiner, who studied them in early 20th century.
• It came from a Greek word Haptein meaning to fasten.
DEFINITION OF HAPTENS
Small, non-biologic molecules that bind to immune cells receptors but cannot by themselves induce a specific immune response
That are antigenic but not immunogenic Which means that they can bind to immune cells but fail to induce Humoral or cell mediated immune response. Hence no antibodies are raised against them
HAPTENS
The term Hapten was given by the immunologist Karl Landsteiner, who studied them in early 20th century.
• It came from a Greek word Haptein meaning to fasten.
DEFINITION OF HAPTENS
Small, non-biologic molecules that bind to immune cells receptors but cannot by themselves induce a specific immune response
That are antigenic but not immunogenic Which means that they can bind to immune cells but fail to induce Humoral or cell mediated immune response. Hence no antibodies are raised against them
The word Archae came from the Greek word Arkhaion, which means “Ancient”.
Archae is also the Latin name for Prokaryotic Cells. Archaea that growing the hot water of the Hot Spring in Yellowstone National Park produce a bright yellow color.
Archaebacteria are known to be the oldest living organisms on earth. They belong to the kingdom Monera and are classified as bacteria because they resemble bacteria when observed under a microscope. Apart from this, they are completely distinct from prokaryotes. However, they share slightly common characteristics with the eukaryotes.
Applications of rDNA technology
Altering the genome of an organism by introducing genes of interest is known as gene manipulation or recombinant DNA technology.
AIDS test: Has become simple & rapid
Diagnosis of molecular diseases: sickle cell anaemia thalassaemia, familial hyper cholesterolaemia, cystic fibrosis
Prenatal diagnosis: DNA from cells collected from amniotic fluid, chorionic villi
Gene Therapy: This is achieved by cloning a gene into a vector that will readily be taken up & incorporated into genome of a host cell. ADA deficiency (Adenosine deaminase deficiency) has been successfully treated
Application in Agriculture: Genetically engineered plants are developed to resist draught & diseases. Good quality of food & increased yield of crops is also possible.
Industrial Application: Enzymes---use to produce sugars, cheese, detergents. Protein products---used as food additives, increases nutritive value, besides imparting flavour.
Genetically engineered bacteria are employed to synthesize certain vital life saving drugs,hormones,and antibiotics eg.,antiviral /anticancer interferons: human growth hormones somatostatin etc.,
Application in forensic medicine: The restriction analysis pattern of DNA of one individual will be very specific(DNA fingerprinting, but the pattern will be different from person to person. Helps to identify criminals & to settle disputes of parenthood of children.
Transgenesis: Gene replacement therapy will not pass on to offspring. Therefore genes are transferred into fertilized ovum which will be found in somatic as well as germ cells & passed on to the successive generations.
Richard's entangled aventures in wonderlandRichard Gill
Since the loophole-free Bell experiments of 2020 and the Nobel prizes in physics of 2022, critics of Bell's work have retreated to the fortress of super-determinism. Now, super-determinism is a derogatory word - it just means "determinism". Palmer, Hance and Hossenfelder argue that quantum mechanics and determinism are not incompatible, using a sophisticated mathematical construction based on a subtle thinning of allowed states and measurements in quantum mechanics, such that what is left appears to make Bell's argument fail, without altering the empirical predictions of quantum mechanics. I think however that it is a smoke screen, and the slogan "lost in math" comes to my mind. I will discuss some other recent disproofs of Bell's theorem using the language of causality based on causal graphs. Causal thinking is also central to law and justice. I will mention surprising connections to my work on serial killer nurse cases, in particular the Dutch case of Lucia de Berk and the current UK case of Lucy Letby.
Cancer cell metabolism: special Reference to Lactate PathwayAADYARAJPANDEY1
Normal Cell Metabolism:
Cellular respiration describes the series of steps that cells use to break down sugar and other chemicals to get the energy we need to function.
Energy is stored in the bonds of glucose and when glucose is broken down, much of that energy is released.
Cell utilize energy in the form of ATP.
The first step of respiration is called glycolysis. In a series of steps, glycolysis breaks glucose into two smaller molecules - a chemical called pyruvate. A small amount of ATP is formed during this process.
Most healthy cells continue the breakdown in a second process, called the Kreb's cycle. The Kreb's cycle allows cells to “burn” the pyruvates made in glycolysis to get more ATP.
The last step in the breakdown of glucose is called oxidative phosphorylation (Ox-Phos).
It takes place in specialized cell structures called mitochondria. This process produces a large amount of ATP. Importantly, cells need oxygen to complete oxidative phosphorylation.
If a cell completes only glycolysis, only 2 molecules of ATP are made per glucose. However, if the cell completes the entire respiration process (glycolysis - Kreb's - oxidative phosphorylation), about 36 molecules of ATP are created, giving it much more energy to use.
IN CANCER CELL:
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
Unlike healthy cells that "burn" the entire molecule of sugar to capture a large amount of energy as ATP, cancer cells are wasteful.
Cancer cells only partially break down sugar molecules. They overuse the first step of respiration, glycolysis. They frequently do not complete the second step, oxidative phosphorylation.
This results in only 2 molecules of ATP per each glucose molecule instead of the 36 or so ATPs healthy cells gain. As a result, cancer cells need to use a lot more sugar molecules to get enough energy to survive.
introduction to WARBERG PHENOMENA:
WARBURG EFFECT Usually, cancer cells are highly glycolytic (glucose addiction) and take up more glucose than do normal cells from outside.
Otto Heinrich Warburg (; 8 October 1883 – 1 August 1970) In 1931 was awarded the Nobel Prize in Physiology for his "discovery of the nature and mode of action of the respiratory enzyme.
WARNBURG EFFECT : cancer cells under aerobic (well-oxygenated) conditions to metabolize glucose to lactate (aerobic glycolysis) is known as the Warburg effect. Warburg made the observation that tumor slices consume glucose and secrete lactate at a higher rate than normal tissues.
This presentation explores a brief idea about the structural and functional attributes of nucleotides, the structure and function of genetic materials along with the impact of UV rays and pH upon them.
Deep Behavioral Phenotyping in Systems Neuroscience for Functional Atlasing a...Ana Luísa Pinho
Functional Magnetic Resonance Imaging (fMRI) provides means to characterize brain activations in response to behavior. However, cognitive neuroscience has been limited to group-level effects referring to the performance of specific tasks. To obtain the functional profile of elementary cognitive mechanisms, the combination of brain responses to many tasks is required. Yet, to date, both structural atlases and parcellation-based activations do not fully account for cognitive function and still present several limitations. Further, they do not adapt overall to individual characteristics. In this talk, I will give an account of deep-behavioral phenotyping strategies, namely data-driven methods in large task-fMRI datasets, to optimize functional brain-data collection and improve inference of effects-of-interest related to mental processes. Key to this approach is the employment of fast multi-functional paradigms rich on features that can be well parametrized and, consequently, facilitate the creation of psycho-physiological constructs to be modelled with imaging data. Particular emphasis will be given to music stimuli when studying high-order cognitive mechanisms, due to their ecological nature and quality to enable complex behavior compounded by discrete entities. I will also discuss how deep-behavioral phenotyping and individualized models applied to neuroimaging data can better account for the subject-specific organization of domain-general cognitive systems in the human brain. Finally, the accumulation of functional brain signatures brings the possibility to clarify relationships among tasks and create a univocal link between brain systems and mental functions through: (1) the development of ontologies proposing an organization of cognitive processes; and (2) brain-network taxonomies describing functional specialization. To this end, tools to improve commensurability in cognitive science are necessary, such as public repositories, ontology-based platforms and automated meta-analysis tools. I will thus discuss some brain-atlasing resources currently under development, and their applicability in cognitive as well as clinical neuroscience.
(May 29th, 2024) Advancements in Intravital Microscopy- Insights for Preclini...Scintica Instrumentation
Intravital microscopy (IVM) is a powerful tool utilized to study cellular behavior over time and space in vivo. Much of our understanding of cell biology has been accomplished using various in vitro and ex vivo methods; however, these studies do not necessarily reflect the natural dynamics of biological processes. Unlike traditional cell culture or fixed tissue imaging, IVM allows for the ultra-fast high-resolution imaging of cellular processes over time and space and were studied in its natural environment. Real-time visualization of biological processes in the context of an intact organism helps maintain physiological relevance and provide insights into the progression of disease, response to treatments or developmental processes.
In this webinar we give an overview of advanced applications of the IVM system in preclinical research. IVIM technology is a provider of all-in-one intravital microscopy systems and solutions optimized for in vivo imaging of live animal models at sub-micron resolution. The system’s unique features and user-friendly software enables researchers to probe fast dynamic biological processes such as immune cell tracking, cell-cell interaction as well as vascularization and tumor metastasis with exceptional detail. This webinar will also give an overview of IVM being utilized in drug development, offering a view into the intricate interaction between drugs/nanoparticles and tissues in vivo and allows for the evaluation of therapeutic intervention in a variety of tissues and organs. This interdisciplinary collaboration continues to drive the advancements of novel therapeutic strategies.
THE IMPORTANCE OF MARTIAN ATMOSPHERE SAMPLE RETURN.Sérgio Sacani
The return of a sample of near-surface atmosphere from Mars would facilitate answers to several first-order science questions surrounding the formation and evolution of the planet. One of the important aspects of terrestrial planet formation in general is the role that primary atmospheres played in influencing the chemistry and structure of the planets and their antecedents. Studies of the martian atmosphere can be used to investigate the role of a primary atmosphere in its history. Atmosphere samples would also inform our understanding of the near-surface chemistry of the planet, and ultimately the prospects for life. High-precision isotopic analyses of constituent gases are needed to address these questions, requiring that the analyses are made on returned samples rather than in situ.
Seminar of U.V. Spectroscopy by SAMIR PANDASAMIR PANDA
Spectroscopy is a branch of science dealing the study of interaction of electromagnetic radiation with matter.
Ultraviolet-visible spectroscopy refers to absorption spectroscopy or reflect spectroscopy in the UV-VIS spectral region.
Ultraviolet-visible spectroscopy is an analytical method that can measure the amount of light received by the analyte.
Slide 1: Title Slide
Extrachromosomal Inheritance
Slide 2: Introduction to Extrachromosomal Inheritance
Definition: Extrachromosomal inheritance refers to the transmission of genetic material that is not found within the nucleus.
Key Components: Involves genes located in mitochondria, chloroplasts, and plasmids.
Slide 3: Mitochondrial Inheritance
Mitochondria: Organelles responsible for energy production.
Mitochondrial DNA (mtDNA): Circular DNA molecule found in mitochondria.
Inheritance Pattern: Maternally inherited, meaning it is passed from mothers to all their offspring.
Diseases: Examples include Leber’s hereditary optic neuropathy (LHON) and mitochondrial myopathy.
Slide 4: Chloroplast Inheritance
Chloroplasts: Organelles responsible for photosynthesis in plants.
Chloroplast DNA (cpDNA): Circular DNA molecule found in chloroplasts.
Inheritance Pattern: Often maternally inherited in most plants, but can vary in some species.
Examples: Variegation in plants, where leaf color patterns are determined by chloroplast DNA.
Slide 5: Plasmid Inheritance
Plasmids: Small, circular DNA molecules found in bacteria and some eukaryotes.
Features: Can carry antibiotic resistance genes and can be transferred between cells through processes like conjugation.
Significance: Important in biotechnology for gene cloning and genetic engineering.
Slide 6: Mechanisms of Extrachromosomal Inheritance
Non-Mendelian Patterns: Do not follow Mendel’s laws of inheritance.
Cytoplasmic Segregation: During cell division, organelles like mitochondria and chloroplasts are randomly distributed to daughter cells.
Heteroplasmy: Presence of more than one type of organellar genome within a cell, leading to variation in expression.
Slide 7: Examples of Extrachromosomal Inheritance
Four O’clock Plant (Mirabilis jalapa): Shows variegated leaves due to different cpDNA in leaf cells.
Petite Mutants in Yeast: Result from mutations in mitochondrial DNA affecting respiration.
Slide 8: Importance of Extrachromosomal Inheritance
Evolution: Provides insight into the evolution of eukaryotic cells.
Medicine: Understanding mitochondrial inheritance helps in diagnosing and treating mitochondrial diseases.
Agriculture: Chloroplast inheritance can be used in plant breeding and genetic modification.
Slide 9: Recent Research and Advances
Gene Editing: Techniques like CRISPR-Cas9 are being used to edit mitochondrial and chloroplast DNA.
Therapies: Development of mitochondrial replacement therapy (MRT) for preventing mitochondrial diseases.
Slide 10: Conclusion
Summary: Extrachromosomal inheritance involves the transmission of genetic material outside the nucleus and plays a crucial role in genetics, medicine, and biotechnology.
Future Directions: Continued research and technological advancements hold promise for new treatments and applications.
Slide 11: Questions and Discussion
Invite Audience: Open the floor for any questions or further discussion on the topic.
Comparing Evolved Extractive Text Summary Scores of Bidirectional Encoder Rep...University of Maribor
Slides from:
11th International Conference on Electrical, Electronics and Computer Engineering (IcETRAN), Niš, 3-6 June 2024
Track: Artificial Intelligence
https://www.etran.rs/2024/en/home-english/
2. Pregnancy:
It can define as the condition of having a
developing a embryo or fetus in the body after
successful conception
Duration of pregnancy :
Calculated in term of 10 lunar months /9
calender months and 7days 280 days 40 weeks.
Calculated from 1st day of last menstrual
period
Also called menstrual or gestational age
3. First trimester : first 12 weeks
Second trimester : 13 -28 weeks
Last trimester : 29 -40 weeks
6. PRESUMPTIVE SIGN :
AMENORRHEA : ABSENCES OF MENSTRUATION MORE
THAN 3 MONTHS .
MORNING SICKNESS : NAUSEA AND VOMITING .THESE
SYMPTOMES DISAPPER SPANTANEOUSLY FROM 6 TO 12
WEEKS (FIRST TRIMESTER)
ENLARGEMENT OF BREASTS : INCREASED SIZE &SENSITIVITY
OF BREASTS AND NIPPLS INCREASED VASCULARITY AND
APPERANCE OF SUBCUTANEOUS VENIS.
DARK PIGMENT OF THE NIPPLS AND AREOLA.
SECRETION OF CLOSTRUM
FREQUENCY OF MICTURITION :
INCREASED DURING 8TH TO 12TH WEEK OF PREGNANCY.
RESTING OF BULKY UTERUS ON FUNDUS OF BLADDER
CONGESTION OF BLADDER MUCOSA
CHANGES IN MATERNAL OSMOREGULATION CAUSES
INCREASED THIST & POLYURIA .
Hyperpigmentation : MELASMA ,LINCANIGRA
Quickening : 12 to14 weeks women feel fetus moment movement
7. Probable evidence :
GOODELL’S SIGN :Tips of cervix become soft and swollen
CHADWICK’S SIGN: cervix and vagina a violet bluish colour
BALLOTTEMENT :its an bimanually evident from 16th week .
Uterine ‘s sign : The uterus become large in size ,globular in
shape and soft in consistence. By the end of third month the funds
of the uterus can be felt just above symphysis pubis.
Hegar ‘s sign: It is the sofening of isthmus of the uterus the area between the
cervix and body of uterus ,which occur at 6to 8 weeks of pregnancy. This area
may become so soft that on bimanual examination the anterior fornix finger and
abdominally fingers meet each other
9. Positive sign:
Fetal heart sounds : These are usually heard by the 24th
week. The presence is sue sign of pregnancy, their rate
of fetal heart sounds is between 120 to 140 under
normal condition.
Visualization of fetus : By ultra sound scanning.
HCG (HUMAN CHRONIC GONADATROPHIN )
Hormone found in blood and urine of pregnant women
*(HCG is an embryonic hormone that maintains secretion of progesterone and estrogen by
the uterus lining through the first trimester. The level of HCG in maternal blood is so high
that it is present in the urine, which allows it to be detected for pregnancy tests.)*
10.
11.
12.
13. Prenatal diagnosis employs a variety of techniques to
determine the health and condition of an unborn fetus.
Without knowledge gained by prenatal diagnosis, there could
be an untoward outcome for the fetus or the mother or both.
Congenital anomalies account for 20 to 25% of perinatal
deaths. Specifically, prenatal diagnosis is helpful for:
Managing the remaining weeks of the pregnancy
Determining the outcome of the pregnancy
Planning for possible complications with the birth
process
Planning for problems that may occur in the newborn
infant
Deciding whether to continue the pregnancy
Finding conditions that may affect future pregnancies
14. There are a variety of non-invasive and invasive techniques
available for prenatal diagnosis. Each of them can be applied
only during specific time periods during the pregnancy for
greatest utility. The techniques employed for prenatal
diagnosis include:
Ultrasonography
Amniocentesis
Chorionic villus sampling
Fetal blood cells in maternal blood
Maternal serum alpha-fetoprotein
Maternal serum beta-HCG
Maternal serum estriol
Karyotyping
Radiography
15. Ultrasonography :
This is a non-invasive procedure that is harmless
to both the fetus and the mother. High frequency
sound waves are utilized to produce visible
images from the pattern of the echos made by
different tissues and organs, including the baby in
the amniotic cavity. The developing embryo can
first be visualized at about 6 weeks gestation.
Recognition of the major internal organs and
extremities to determine if any are abnormal can
best be accomplished between 16 to 20 weeks
gestation
16. o Although an ultrasound examination can be quite
useful to determine the size and position of the
fetus, the size and position of the placenta, the
amount of amniotic fluid, and the appearance of
fetal anatomy, there are limitations to this
procedure. Subtle abnormalities may not be
detected until later in pregnancy, or may not be
detected at all.
o A good example of this is Down syndrome
(trisomy 21) where the morphologic abnormalities
are often not marked, but only subtle, such as
nuchal thickening.
20. AMNIOCENTESIS :
This is an invasive procedure in which a needle is passed
through the mother's lower abdomen into the amniotic cavity
inside the uterus.
Enough amniotic fluid is present for this to be
accomplished starting about 14 weeks gestation.
For prenatal diagnosis, most amniocenteses are
performed between 14 and 20 weeks gestation. However,
an ultrasound examination always proceeds
amniocentesis in order to determine gestational age, the
position of the fetus and placenta, and determine if enough
amniotic fluid is present.
o Within the amniotic fluid are fetal cells (mostly derived
from fetal skin) which can be grown in culture for
chromosome analysis, biochemical analysis, and
molecular biologic analysis.
21. In the third trimester of pregnancy, the amniotic
fluid can be analyzed for determination of fetal lung
maturity.
This is important when the fetus is below 35 to 36
weeks gestation, because the lungs may not be
mature enough to sustain life.
This is because the lungs are not producing
enough surfactant. After birth, the infant will
develop respiratory distress syndrome from
hyaline membrane disease.
The amniotic fluid can be analyzed by
fluorescence polarization (fpol), for
lecithin:sphingomyelin (LS) ration, or for
phosphatidyl glycerol (PG).
22. Risks with amniocentesis are uncommon, but include fetal
loss and maternal Rh sensitization.
The increased risk for fetal mortality following
amniocentesis is about 0.5% above what would normally
be expected.
Rh negative mothers can be treated with RhoGam.
Contamination of fluid from amniocentesis by maternal
cells is highly unlikely.
If oligohydramnios is present, then amniotic fluid cannot
be obtained.
It is sometimes possible to instill saline into the amniotic
cavity and then remove fluid for analysis
23.
24. CHORIONIC VILLUS SAMPLING (CVS)
In this procedure, a catheter is passed via the vagina through
the cervix and into the uterus to the developing placenta
under ultrasound guidance.
Alternative approaches are transvaginal and
transabdominal.
The introduction of the catheter allows sampling of cells
from the placental chorionic villi.
These cells can then be analyzed by a variety of
techniques.
The most common test employed on cells obtained by CVS
is chromosome analysis to determine the karyotype of the
fetus.
The cells can also be grown in culture for biochemical or
molecular biologic analysis. CVS can be safely performed
between 9.5 and 12.5 weeks gestation.
25. CVS has the disadvantage of being an invasive
procedure, and it has a small but significant rate of
morbidity for the fetus; this loss rate is about 0.5 to
1% higher than for women undergoing
amniocentesis.
Rarely, CVS can be associated with limb defects
in the fetus. The possibility of maternal Rh
sensitization is present.
There is also the possibility that maternal blood
cells in the developing placenta will be sampled
instead of fetal cells and confound chromosome
analysis
26.
27.
28. KARYOTYPING
Tissues must be obtained as fresh as possible
for culture and without contamination.
A useful procedure is to wash the tissue samples
in sterile saline prior to placing them into cell
culture media.
Tissues with the best chance for growth are
those with the least maceration: placenta, lung,
diaphragm.
Obtaining tissue from more than one site can
increase the yield by avoiding contamination or
by detection of mosaicism
29.
30.
31. DNA PROBES : (is single standard seqences that is complementary to know the region od dna)
Fetal cells obtained via amniocentesis or CVS can be analyzed by
probes specific for DNA sequences.
One method employs restriction fragment length polymorphism
(RFLP) analysis.
This method is useful for detection of mutations involving genes that
are closely linked to the DNA restriction fragments generated by the
action of an endonuclease. The DNA of family members is analyzed to
determine differences by RFLP analysis.
In some cases, if the DNA sequence of a gene is known, a probe to a
DNA sequence specific for a genetic marker is available, and the
polymerase chain reaction (PCR) technique can be applied for
diagnosis.
There are many genetic diseases, but only in a minority have
particular genes been identified, and tests to detect them have been
developed in some of these. Thus, it is not possible to detect all
genetic diseases. Moreover, testing is confounded by the presence of
different mutations in the same gene, making testing more complex.
34. MATERNAL SERUM ESTRIOL
The amount of estriol in maternal serum is dependent
upon a viable fetus, a properly functioning placenta, and
maternal well-being.
The substrate for estriol begins as
dehydroepiandrosterone (DHEA) made by the fetal adrenal
glands. This is further metabolized in the placenta to
estriol.
The estriol crosses to the maternal circulation and is
excreted by the maternal kidney in urine or by the
maternal liver in the bile. The measurement of serial estriol
levels in the third trimester will give an indication of
general wellbeing of the fetus.
If the estriol level drops, then the fetus is threatened and
delivery may be necessary emergently.
Estriol tends to be lower when Down syndrome is present
and when there is adrenal hypoplasia with anencephaly.22
35. FISH (PERFORMED ON FRESH TISSUE OR PARAFFIN
BLOCKS)
In addition to karyotyping, fluorescence in situ
hybridization (FISH) can be useful. A wide variety of probes
are available. It is useful for detecting aneuploid conditions
(trisomies, monosomies).
Fresh cells are desirable, but the method can be applied
even to fixed tissues stored in paraffin blocks, though
working with paraffin blocks is much more time consuming
and interpretation can be difficult. The ability to use FISH
on paraffin blocks means that archival tissues can be
examined in cases where karyotyping was not performed,
or cells didn't grow in culture.
36.
37.
38. RADIOGRAPHY
Standard anterior-posterior and lateral radiographic views are essential
for analysis of the fetal skeleton. Radiographs are useful for
comparison with prenatal ultrasound, and help define anomalies when
autopsy consent is limited, or can help to determine sites to be
examined microscopically. Conditions diagnosed by postmortem
radiography may include:
Skeletal anomalies (dwarfism, dysplasia, sirenomelia, etc.)
Neural tube defects (anencephaly, iniencephaly, spina bifida, etc.)
Osteogenesis imperfecta (osteopenia, fractures)
Soft tissue changes (hydrops, hygroma, etc.)
Teratomas or other neoplasms
Growth retardation
Orientation and audit of fetal parts (with D&E specimens)
Assessment of catheter or therapeutic device placement
41. MICROBIOLOGIC CULTURE
Culture can aid in diagnosis or confirmation of congenital
infections. Examples of congenital infection include:
T - toxoplasmosis
O - other, such as Listeria monocytogenes, group B
streptococcus, syphilis
R - rubella
C - cytomegalovirus
H - herpes simplex or human immunodeficiency virus
(HIV)
Cultures have to be appropriately obtained with the proper
media and sent with the proper requisitions ("routine"
includes aerobic and anaerobic bacteria; fungal and viral
cultures must be separately ordered).
Viral cultures are difficult and expensive. Separate media
and collection procedures may be necessary depending
upon what virus is being sought.
Bacterial contamination can be a problem