Seminar

on
genetic testing

PRESENTED BY
SUJITHA.R
M.SC I YEAR
INTRODUCTION:
Genetic testing allows the genetic diagnosis of vulnerabilities to inherited 
diseases, and can also be used to determine a child's paternity (genetic father) or a
person's ancestry. Normally, every person carries two copies of every gene (with the
exception of genes related to sex-linked traits, which are only inherited from the
mother by males), one inherited from their mother, one inherited from their father. The 
human genome is believed to contain around 20,000 - 25,000 genes. In addition to
studying chromosomes to the level of individual genes, genetic testing in a broader
sense includes biochemical tests for the possible presence of genetic diseases, or
mutant forms of genes associated with increased risk of developing genetic disorders.
Genetic testing identifies changes in chromosomes, genes, or proteins
GENES:

A gene is a molecular unit of heredity of a living organism.

A modern working definition of a gene is "a locatable region of 
genomic sequence, corresponding to a unit of inheritance, which is
associated with regulatory regions, transcribed regions, and or other
functional sequence regions “
It is a name given to some stretches of DNA and RNA that code for a 
polypeptideor for an RNA chain that has a function in the organism.
Living beings depend on genes, as they specify all proteins and
functional RNA chains.
Genes hold the information to build and maintain an organism's cells
 and pass genetic traits to offspring.
A gene is the basic instruction—a sequence of nucleic acids (DNA or,
in the case of certain viruses RNA), while an allele is one variant of that
gene.
The chemical structure of a
four-base fragment of a DNA
double helix
CHROMOSOMES:
The word chromosome comes from the Greek  (chroma, colour)
and  (soma, body) due to their property of being very strongly stained by
particular dyes.
A chromosome is an organized structure of DNA and protein
 found in cells. It is a single piece of coiled DNA containing many genes
, regulatory elements and other nucleotide sequences. Chromosomes also
contain DNA-bound proteins, which serve to package the DNA and
control its functions.
The total complement of genes in an organism or cell is known as its 
genome, which may be stored on one or more chromosomes; the region
of the chromosome at which a particular gene is located is called its 
locus. A chromosome consists of a single, very long DNA helix on which
thousands of genes are encoded. 
(1)Chromatid – one of the two identical parts of the chromosome after 
S phase. (2) Centromere – the point where the two chromatids touch, and
where the microtubules attach. (3) Short arm. (4) Long arm.
Human chromosomes:
Chromosomes in humans can be divided into two types: autosomes and
sex chromosomes. Certain genetic traits are linked to a person's sex and
are passed on through the sex chromosomes. The autosomes contain the
rest of the genetic hereditary information. All act in the same way during
cell division. Human cells have 23 pairs of chromosomes (22 pairs of
autosomes and one pair of sex chromosomes), giving a total of 46 per
cell.
Sexually reproducing species have somatic cells (body cells), which are 
diploid [2n] having two sets of chromosomes, one from the mother and
one from the father. Gametes, reproductive cells, are haploid [n]: They
have one set of chromosomes. Gametes are produced by meiosis of a
diploid germ line cell. During meiosis, the matching chromosomes of
father and mother can exchange small parts of themselves (crossover),
and thus create new chromosomes that are not inherited solely from
either parent. When a male and a female gamete merge (fertilization), a
new diploid organism is formed.
GENE EXPRESSION:
In all organisms, there are two major steps separating a protein-
coding gene from its protein: First, the DNA on which the gene resides
must be transcribed from DNA to messenger RNA (mRNA); and,
second, it must be translated from mRNA to protein. RNA-coding genes
must still go through the first step, but are not translated into protein.
The process of producing a biologically functional molecule of either
RNA or protein is called gene expression, and the resulting molecule
itself is called a gene product.
GENETIC CODE:
The genetic code is the set of chemical symbols by which a gene is
translated into a functional protein. Each gene consists of a specific
sequence of nucleotides encoded in a DNA (or sometimes RNA in some
viruses) strand; a correspondence between nucleotides, the basic
building blocks of genetic material, and amino acids, the basic building
blocks of proteins, must be established for genes to be successfully
translated into functional proteins.
Transcription:
The process of genetic transcription produces a single-stranded RNA
 molecule known as messenger RNA, whose nucleotide sequence is
complementary to the DNA from which it was transcribed.

Translation:
Translation is the process by which a mature mRNA molecule is used as
a template for synthesizing a new protein. Translation is carried out by 
ribosomes, large complexes of RNA and protein responsible for carrying
out the chemical reactions to add new amino acids to a growing 
polypeptide chain by the formation of peptide bonds.
DNA REPLICATION AND INHERITANCE:
The growth, development, and reproduction of organisms relies
on cell division, or the process by which a single cell divides into two
usually identical daughter cells. This requires first making a duplicate
copy of every gene in the genome in a process called DNA replication.
Then the copy of the genome inherited by each daughter cell contains
one original and one newly synthesized strand of DNA.
Molecular inheritance:
The duplication and transmission of genetic material from one generation of cells to the
next is the basis for molecular inheritance, and the link between the classical and
molecular pictures of genes. Organisms inherit the characteristics of their parents
because the cells of the offspring contain copies of the genes in their parents' cells.

Chromosomal organization:
The total complement of genes in an organism or cell is known as its genome.
Cells or organisms with only one copy of each chromosome are called haploid; those
with two copies are called diploid; and those with more than two copies are called 
polyploid. The copies of genes on the chromosomes are not necessarily identical. In
sexually reproducing organisms, one copy is normally inherited from each parent.
GENETIC TESTING:
Genetic testing (also called DNA-based tests) is among the
newest and most sophisticated of techniques used to test for genetic
disorders which involves direct examination of the DNA molecule itself.
Other genetic tests include biochemical tests for such gene products as 
enzymes and other proteins and for microscopic ;
PURPOSES:
Genetic tests are used for several reasons, including:
•carrier screening, which involves identifying unaffected individuals
who carry one copy of a gene for a disease that requires two copies for
the disease to be expressed
•preimplantation genetic diagnosis (see the side bar, Screening Embryos
for Disease)
•prenatal diagnostic testing
•newborn screening
•Genealogical DNA test (for genetic genealogy purposes)
CONTD…

•presymptomatic testing for predicting adult-onset disorders such as

Huntington's disease
•presymptomatic testing for estimating the risk of developing adult-onset
cancers and Alzheimer's disease
•confirmational diagnosis of a symptomatic individual
•forensic/identity testing
TYPES:
Genetic testing is "the analysis of, chromosomes (DNA), proteins,
and certain metabolites in order to detect heritable disease-related 
genotypes, mutations, phenotypes, or karyotypes for clinical
purposes." It can provide information about a person's genes and
chromosomes throughout life.
•Newborn screening:
Newborn screening is used just after birth to identify genetic
disorders that can be treated early in life. The routine testing of infants
for certain disorders is the most widespread use of genetic testing—
millions of babies are tested each year in the United States. All states
currently test infants for phenylketonuria (a genetic disorder that causes 
mental illness if left untreated) and congenital hypothyroidism (a
disorder of the thyroid gland).
•Diagnostic testing:
Diagnostic testing is used to diagnose or rule out a specific genetic
or chromosomal condition. In many cases, genetic testing is used to
confirm a diagnosis when a particular condition is suspected based on
physical mutations and symptoms. Diagnostic testing can be performed
at any time during a person's life, but is not available for all genes or all
genetic conditions. The results of a diagnostic test can influence a
person's choices about health care and the management of the disease.
•Carrier testing:
Carrier testing is used to identify people who carry one copy of a
gene mutation that, when present in two copies, causes a genetic
disorder. This type of testing is offered to individuals who have a family
history of a genetic disorder and to people in ethnic groups with an
increased risk of specific genetic conditions. If both parents are tested,
the test can provide information about a couple's risk of having a child
with a genetic condition.
Prenatal testing:
Prenatal testing is used to detect changes in a fetus's genes or
chromosomes before birth. This type of testing is offered to couples with
an increased risk of having a baby with a genetic or chromosomal
disorder. In some cases, prenatal testing can lessen a couple's uncertainty
or help them decide whether to abort the pregnancy. It cannot identify all
possible inherited disorders and birth defects, however.

Preimplantation genetic diagnosis: Genetic testing procedures

that are performed on human embryos prior to the implantation as
part of an in vitro fertilization procedure.
Predictive and presymptomatic testing: Predictive and
presymptomatic types of testing are used to detect gene mutations
associated with disorders that appear after birth, often later in life. These
tests can be helpful to people who have a family member with a genetic
disorder, but who have no features of the disorder themselves at the time
of testing. Predictive testing can identify mutations that increase a
person's chances of developing disorders with a genetic basis, such as
certain types of cancer. For example, an individual with a mutation in 
BRCA1 has a 65% cumulative risk of breast cancer.[6] Presymptomatic
testing can determine whether a person will develop a genetic disorder,
such as hemochromatosis (an iron overload disorder), before any signs
or symptoms appear.
Forensic testing: Forensic testing uses DNA sequences to identify an
individual for legal purposes. Unlike the tests described above, forensic
testing is not used to detect gene mutations associated with disease. This
type of testing can identify crime or catastrophe victims, rule out or
implicate a crime suspect, or establish biological relationships between
people (for example, paternity).
Parental testing: This type of genetic test uses special DNA markers to
identify the same or similar inheritance patterns between related
individuals. Based on the fact that we all inherit half of our DNA from
the father, and half from the mother, DNA scientists test individuals to
find the match of DNA sequences at some highly differential markers to
draw the conclusion of relatedness.
•Research testing:
Research testing includes finding unknown genes, learning how
genes work and advancing our understanding of genetic conditions. The
results of testing done as part of a research study are usually not
available to patients or their healthcare providers.

•Pharmacogenomics:
Type of genetic testing that determines the influence of genetic
variation on drug response.
MEDICAL PROCEDURE:
Genetic testing is often done as part of a genetic consultation and
as of mid-2008 there were more than 1,200 clinically applicable genetic
tests available. Once a person decides to proceed with genetic testing, a
medical geneticist, genetic counselor, primary care doctor, or specialist
can order the test after obtaining informed consent.
Interpreting results:
The results of genetic tests are not always straightforward, which
often makes them challenging to interpret and explain. May not always
be correct. When interpreting test results, healthcare professionals
consider a person’s medical history, family history, and the type of
genetic test that was done.

 POSITIVE
 NEGATIVE
DIRECT TO CONSUMER GENETIC TESTING:
Direct-to-Consumer (DTC) genetic testing is a type of genetic test that is accessible
directly to the consumer without having to go through a health care professional.
Usually, to obtain a genetic test, health care professionals such as doctors acquire the
permission of the patient and order the desired test.
 DTC genetic tests, however, allow consumers to bypass this process and order one
themselves.
There are a variety of DTC tests, ranging from testing for breast cancer alleles to
mutations linked to cystic fibrosis.
Benefits of DTC testing are the accessibility of tests to consumers, promotion of
proactive healthcare and the privacy of genetic information.
Possible additional risks of DTC testing are the lack of governmental regulation and
the potential misinterpretation of genetic information.
PRENATAL DIAGNOSIS:
Prenatal diagnosis or prenatal screening is testing for diseases
or conditions in a fetus or embryobefore it is born. The aim is to detect 
birth defects such as neural tube defects, Down syndrome, chromosome
 abnormalities, genetic diseases and other conditions, such as spina
bifida, cleft palate, Tay Sachs disease, sickle cell anemia, thalassemia, 
cystic fibrosis, Muscular dystrophy, and fragile x syndrome. Screening
can also be used for prenatal sex discernment.
REASONS FOR PRENATAL DIAGNOSIS:
There are three purposes of prenatal diagnosis:
(1)to enable timely medical or surgical treatment of a condition before or
after birth
(2) to give the parents the chance to abort a fetus with the diagnosed
condition, and
(3) to give parents the chance to "prepare" psychologically, socially,
financially, and medically for a baby with a health problem or disability,
or for the likelihood of a stillbirth.
Qualifying risk factors
•Women over the age of 35
•Women who have previously had premature babies or babies with a
birth defect, especially heart or genetic problems
•Women who have high blood pressure, lupus, diabetes, asthma, or 
epilepsy
•Women who have family histories or ethnic backgrounds prone to
genetic disorders, or whose partners have these
•Women who are pregnant with multiples (twins or more)
•Women who have previously had miscarriages
METHODS OF PRENATAL DIAGNOSIS:

NONINVASIVE

INVASIVE
NONINVASIVE TECHNIQUES:
•Fetal visualization
•Ultrasound
•Fetal echocardiography
•Magnetic resonance imaging (MRI)
•Radiography
•Screening for neural tube defects (NTDs) - Measuring maternal serum
alpha-fetoprotein (MSAFP)Screening for fetal Down syndrome
CONTD…

•Measuring MSAFP
•Measuring maternal unconjugated estriol
•Measuring maternal serum beta-human chorionic gonadotropin (HCG)
•Separation of fetal cells from the mother's blood
•Assessment of fetal-specific DNA methylation ratio[1]
INVASIVE TECHNIQUES:
•Fetal visualization
•Embryoscopy
•Fetoscopy
•Fetal tissue sampling
•Amniocentesis
•Chorionic villus sampling (CVS)
•Percutaneous umbilical blood sampling (PUBS)
•Percutaneous skin biopsy
•Other organ biopsies, including muscle and liver biopsy
•Preimplantation biopsy of blastocysts obtained by in vitro fertilization
•Cytogenetic investigations
•Detection of chromosomal aberrations
•Fluorescent in situ hybridization
•Molecular genetic techniques
•Linkage analysis using microsatellite markers
•Restriction fragment length polymorphisms (RFLPs)
•Single nucleotide polymorphisms (SNPs)
•DNA chip
•Dynamic allele-specific hybridization (DASH)
 There are multiple ways of classifying the methods available,
including the invasiveness and the time performed.

Invasiveness Test Comments Time

Based on enrichment
of fetal cells which
circulate in maternal
blood. Since fetal
Fetal Cells in
cells hold all the
Non-invasive Maternal Blood First trimester
genetic information
(FCMB) of the developing
fetus they can be used
to perform prenatal
diagnosis.
 Based on DNA of
fetal origin
circulating in the
maternal blood.
Testing can
potentially identify
fetal aneuploidy
Cell-free Fetal  (available in the
Non-invasive DNA in Maternal United States, First trimester
Blood beginning 2011) and 
gender of a fetus as
early as six weeks
into a pregnancy.
Fetal DNA ranges
from about 2-10% of
the total DNA in
 During 
in vitro fertilization
 (IVF) procedures, it
is possible to sample
cells from 
Preimplantation human embryos prior
prior to
Non-invasive Genetic Diagnosi the implantation.
PGD is in itself non-
implantation
s
invasive, but IVF
(PGD)
usually involves
invasive procedures
such as transvaginal
oocyte retrieval
Examination of the
First or second
Non-invasive External examination woman's uterus from
outside the body.
trimester
 Commonly dating
scans (sometimes
known as booking
scans) from 7 weeks First or second
Non-invasive Ultrasound detect
to confirm pregnancy trimester
ion
dates and look for 
twins. The
specialised 
nuchal scan at 11–13
weeks may be used
to identify higher
risks of Downs
syndrome.
Later morphology
scans from 18 weeks
may check for any
 Listening to the
First or second
Non-invasive Fetal heartbeat fetal heartbeat
trimester
(see stethoscope)

Use of 
cardiotocography
 during the third
Non-invasive Non-stress test Third trimester
trimester to
monitor fetal
wellbeing
 Cervical mucus aspirati
on
, cervical swabbing,
and cervical or 
intrauterine lavage can
Transcervical be used to retrieve

Less invasive retrieval of trophoblast cells for First trimester 

diagnostic purposes,
trophoblast cells
including 
prenatal genetic analysis
. Success rates for
retrieving fetal
trophoblast cells vary
from 40% to 90%.
 Including β-hCG, 
PAPP-A, 
Maternal serum alpha fetoprotein, First or second
Less invasive intact or beta hCG,
screening trimester
inhibin-A

Involves getting a
sample of the 
chorionic villus and
testing it. This can be
More invasive Chorionic villu done earlier than After 10 weeks
amniocentesis, but may
s sampling
have a higher risk of
miscarriage, estimated
at 1%.
 This can be done once
enough amniotic fluid
 has developed to
sample. Cells from the
fetus will be floating in
this fluid, and can be
separated and tested.
More invasive Amniocentesis Miscarriage risk of
After 15 weeks
amniocentesis is
commonly quoted as
0.06% (1:1600). By 
amniocentesis is also
possible to cryopreserve
 amniotic stem cells.
 Though rarely done,
these involve putting a
probe into a women's
Embryoscopyand  uterus to observe (with
More invasive
fetoscopy a video camera), or to
sample blood or tissue
from the embryo or
fetus.

More invasive Percutaneous umbilical

cord blood sampling
AMNIOCENTESIS:
Amniocentesis (also referred to as amniotic fluid test or AFT) is
a medical procedure used in prenatal diagnosis of chromosomal
abnormalitiesand fetal infections, in which a small amount of amniotic
fluid, which contains fetal tissues, is sampled from the amnion or
amniotic sac surrounding a developing fetus, and the fetal DNA is
examined for genetic abnormalities.
PROCEDURE:
Before the start of the procedure, a local anesthetic
can be given to the mother in order to relieve the pain felt
during the insertion of the needle used to withdraw the fluid.
After the local is in effect, a needle is usually inserted through
the mother's abdominal wall, then through the wall of the
uterus, and finally into the amniotic sac. With the aid of
ultrasound-guidance, a physician punctures the sac in an area
away from the fetus and extracts approximately 20 ml of
amniotic fluid.
If used for prenatal genetic diagnosis, fetal cells are separated
from the extracted sample. The cells are grown in a culture
medium, then fixed and stained. Under a microscope the
chromosomes are examined for abnormalities. The most
common abnormalities detected are Down syndrome (trisomy
21), Edwards syndrome (trisomy 18), and Turner syndrome
 (monosomy X). In regard to the fetus, the puncture heals and
the amniotic sac replenishes the liquid over the next 24–48
hours.
Genetic diagnosis
Early in pregnancy, amniocentesis used for diagnosis of
chromosomal and other fetal problems such as:
•Down syndrome (trisomy 21)
•Trisomy 13
•Trisomy 18
•Fragile X
•Rare, inherited metabolic disorders
Neural tube defects (anencephaly and spina bifida) by 
alpha-fetoprotein levels.
Lung maturity
Amniocentesis can predict fetal lung maturity, which is inversely
correlated to the risk of infant respiratory distress syndrome. In
pregnancies of greater than 30 weeks, the fetal lung maturity may be
tested by sampling the amount of surfactant in the amniotic fluid.
Several tests are available that correlate with the production of
surfactant. These include the lecithin-sphingomyelin ratio ("L/S ratio"),
the presence of phosphatidylglycerol (PG), and more recently, the 
surfactant/albumin (S/A) ratio.
Other
Amniocentesis can also be used to detect problems such as:
•Infection, in which amniocentesis can detect a decreased glucose
level,
a Gram stain showing bacteria or an abnormal 
differential count of white blood cells.
•Rh incompatibility
•Decompression of polyhydramnios
RISKS AND DRAWBACKS:
Amniocentesis is performed between the 15th and 20th week of
pregnancy; performing this test earlier may result in fetal injury. The
term "early amniocentesis" is sometimes used to describe use of the
process between weeks 11 and 13.
Complications of amniocentesis include preterm labor and delivery,
respiratory distress, postural deformities, fetal trauma and
alloimmunisation of the mother (rhesus disease).
Amniotic fluid embolism has been described as a possible risk.
Amniocentesis and stem cells
Recent studies have discovered that amniotic fluid can be
a rich source of multipotent mesenchymal, hematopoietic, 
neural, epithelial, and endothelial stem cells.A potential
benefit of using amniotic stem cells over those obtained from
embryos is that they side-step ethical concerns among 
pro-life activists by obtaining pluripotent lines of
undifferentiated cells without harm to a fetus or destruction
of an embryo.
CHORIONIC VILLUS SAMPLING
Chorionic villus sampling (CVS), is a form of 
prenatal diagnosis to determine chromosomal orgenetic
disorders in the fetus. It entails sampling of the 
chorionic villus (placental tissue) and testing it for
chromosomal abnormalities, usually with FISH or PCR. CVS
usually takes place at 10–12 weeks' gestation, earlier than 
amniocentesis (14–16 weeks). It is the preferred technique
before 15 weeks.
INDICATIONS:
•Abnormal first trimester screen results
•Increased nuchal translucency or other abnormal ultrasound findings
•Family history of a chromosomal abnormality or other genetic disorder
•Parents are known carriers for a genetic disorder
•Advanced maternal age (maternal age above 35). AMA is associated
with increase risk of Down's syndrome and at age 35, risk is 1:400.[6]
 Screening test are usually carried out first before deciding if CVS
should be done.
RISKS:
Risk of miscarriage in CVS is about 0.5 - 1%. Apart from a risk of
miscarriage, there is a risk of infection and amniotic fluid leakage. The
resulting amniotic fluid leak can develop into a condition known as 
oligohydramnios, which is low amniotic fluid level. If the resulting
oligohydramnios is not treated and the amniotic fluid continues to leak it
can result in the baby developing hypoplastic lungs (underdeveloped
lungs).
PERCUTANEOUS UMBILICAL CORD BLOOD SAMPLING:

Percutaneous umbilical cord blood sampling (PUBS), also

called cordocentesis, is a diagnostic genetic test that examines blood
from the fetalumbilical cord to detect fetal abnormalities. PUBS provides
a means of rapid chromosome analysis and is useful when information
cannot be obtained through amniocentesis, CVS, or ultrasound (or if the
results of these tests were inconclusive). This test carries a significant
risk of complication and is typically reserved for pregnancies determined
to be at high risk for genetic defect.
PROCEDURE:
PUBS is similar to amniocentesis, but instead of sampling the 
amniotic fluid which surrounds the fetus, PUBS examines fetal blood.
An advanced imaging ultrasound determines the location for needle
insertion into the placenta, and the needle is guided through the mother's
abdomen and uterine wall into the fetal vein of the umbilical cord, where
a fetal blood sample is removed. The sample can then be sent for
chromosomal analysis. The entire process lasts 45 minutes to an hour.
Because the fetal vein is fragile early in pregnancy, PUBS is performed
no earlier than 17 weeks into pregnancy.
RISKS:
Miscarriage is the primary risk associated with PUBS and occurs in
1-2% of procedures. Additional possible complications are similar to
those for amniocentesis and include blood loss at the puncture site, 
infection, and premature rupture of membranes. During the procedure,
the mother may feel discomfort similar to a menstrual cramp.
ELEVATED ALPHA FETO PROTEIN:
Elevated alpha-fetoprotein refers to a state where 
Alpha-fetoprotein levels are outside of the reference range.There are two
categories of AFP tests: tests performed on serum (blood plasma), and
tests performed on amniotic fluid. Tests performed on serum are further
categorized by the reason for performing the test: maternal serum, adult
tumor marker, and pediatric tumor marker.
Maternal testing for fetal screening:
Abnormally elevated AFP in the serum of a pregnant woman can have
one or more of these sources:
•a problem with the fetus
•a problem with the placenta
•a tumor or liver disease in the woman
•a normally elevated AFP in the fetus or woman (some people
naturally have very high AFP)
Abnormally elevated AFP in amniotic fluid can have one or more of
many different causes:
•normal elevation. 75% of AF AFP test results in the range 2.0 to 4.9 
MoM are false positives: the baby is normal.
•open neural tube defect
•open abdominal wall defect
•congenital nephrosis
•others
Maternal serum screening
First trimester maternal serum screening can check levels of free
β-hCG, PAPP-A, alpha fetoprotein, intact or beta hCG, inhibin-A, or h-
hCG in the woman's serum, and combine these with the measurement of 
nuchal translucency (NT). Some institutions also look for the presence of
a fetal nasalbone on the ultrasound.
Second trimester maternal serum screening (AFP screening, triple
screen, quad screen, or penta screen) can check levels of 
alpha fetoprotein, β-hCG, inhibin-A, estriol, and h-hCG
(hyperglycosolated hCG) in the woman's serum.
The triple test measures serum levels of AFP, estriol, and beta-hCG, with
a 70% sensitivity and 5% false-positive rate. It is complemented in some
regions of the United States, as the Quad test(adding inhibin A to the
panel, resulting in an 81% sensitivity and 5% false-positive rate for
detecting Down syndrome when taken at 15–18 weeks of gestational age
).
The biomarkers PAPP-A and β-hCG seem to be altered for
pregnancies resulting from ICSI, causing a higher false-positive rate.
ETHICAL ISSUES OF PRENATAL TESTING:
•The option to continue or abort a pregnancy is the primary choice after
most prenatal testing. Rarely, fetal intervention corrective procedures are
possible.
•Knowing about certain birth defects such as spina bifida and teratoma
 before birth may give the option of fetal surgery during pregnancy, or
assure that the appropriate treatment and/or surgery be provided
immediately after birth.
•That parents are well informed if they have to consider abortion vs.
continuing a pregnancy. 
Both false positives and false negatives will have a large impact on a
couple when they are told the result, or when the child is born.
Societal Pressures on Prenatal Testing Decisions:
Amniocentesis has become the standard of care for prenatal care
visits for women who are "at risk" or over a certain age. Most
obstetricians (depending on the country) offer patients the AFP triple test
, HIV test, and ultrasounds routinely. However, almost all women meet
with a genetic counselor before deciding whether to have prenatal
diagnosis. It is the role of the genetic counselor to accurately inform
women of the risks and benefits of prenatal diagnosis. Genetic
counselors are trained to be non-directive and to support the patient's
decision. Some doctors do advise women to have certain prenatal tests
and the patient's partner may also influence the woman's decision.
Informed consent and medical malpractice:
Obstetricians have an ethical duty to properly inform patients of
their options, specifically the availability of screening and diagnostic
testing. Physicians have been successfully sued by women who gave
birth to babies with abnormalities that could have been detected had they
known about their screening options, though the plaintiff must also prove
that she would have elected to terminate the pregnancy in the event of a
positive finding. Also, physicians who fail to inform their patients of the
risks of amniocentesis and CVS might be found guilty of negligence
informed consent in the event that the patient sues after a procedure-
related miscarriage or fetal damage.
There is a misconception that a physician only needs to do what other
physicians typically do (i.e. standard of care). However, in the case of
informed consent, the legal standard is more commonly defined as what
a reasonable patient would elect to do if she is informed. So if a
reasonable patient would want to be screened if only she is informed or
if a reasonable patient would want to receive an amniocentesis if only
she is informed of that option, then a physician is legally obligated to
inform the patient of these options.
As newer, more accurate screening tests emerge, physicians may need to
quickly get up to speed on the most recent data and start informing their
patients of the existence of these tests.
PREIMPLANTATION GENETIC DIAGNOSIS:
In medicine and (clinical) genetics pre-implantation genetic
diagnosis (PGD or PIGD) (also known as embryo screening) refers to
procedures that are performed on embryos prior to implantation,
sometimes even on oocytes prior to fertilization. PGD is considered
another way to prenatal diagnosis. When used to screen for a specific 
genetic disease, its main advantage is that it avoids selective 
pregnancy termination as the method makes it highly likely that the baby
will be free of the disease under consideration. PGD thus is an adjunct
to assisted reproductive technology, and requires in vitro fertilization
 (IVF) to obtain oocytes or embryos for evaluation.
The term pre-implantation genetic screening (PGS) is used to denote
procedures that do not look for a specific disease but use PGD
techniques to identify embryos at risk. PGD is a poorly chosen phrase
because, in medicine, to "diagnose" means to identify an illness or
determine its cause. An oocyte or early-stage embryo has no symptoms
of disease. They are not ill. Rather, they may have a genetic condition
that could lead to disease. To "screen" means to test for anatomical,
physiological, or genetic conditions in the absence of symptoms of
disease. So both PGD and PGS should be referred to as types of embryo
screening.
Pregnancy chances:
Preimplantation genetic profiling (PGP) has been suggested to be
applied as a method of assisted reproductive technology to perform 
embryo selection of an embryo that appears to have the greatest chances
for successful pregnancy. However, as the results of PGP rely on the
assessment of a single cell, PGP has inherent limitations as the tested cell
may not be representative of the embryo because of mosaicism.
Sex discernment:
Preimplantation genetic diagnosis provides a method of 
prenatal sex discernment even before implantation, and may therefore be
termed preimplantation sex discernment. Potential applications of
preimplantation sex discernment include:
•Sex selection. A 2006 survey  found that 42 per cent of clinics that offer
PGD have provided it for sex selection for non-medical reasons. Nearly
half of these clinics perform it only for “family balancing”, which is
where a couple with two or more children of one sex desire a child of the
other, but half do not restrict sex selection to family balancing. In India,
this practice has been used to select only male embryos although this
practice is illegal {{PNDT ACT NO. 57 OF 1994 }}.
BIOPSY PROCEDURES:
As PGD can be performed on cells from different developmental stages,
the biopsy procedures vary accordingly. Theoretically, the biopsy can be
performed at all preimplantation stages, but only three have been
suggested: on unfertilised and fertilised oocytes (for polar bodies, PBs),
on day three cleavage-stage embryos (for blastomeres) and on
blastocysts (for trophectoderm cells).
The biopsy procedure always involves two steps: the opening of the zona
pellucida and the removal of the cells.
1.Polar body biopsy:
The first and second polar body of the oocyte are extruded at the
time of the conclusion of the meiotic division, normally the first polar
body is noted after ovulation, and the second polar body afterfertilization
.
The first PB is removed from the unfertilised oocyte, and the second PB
from the zygote, shortly after fertilization. The main advantage of the use
of PBs in PGD is that they are not necessary for successful fertilisation
or normal embryonic development, thus ensuring no deleterious effect
for the embryo.
2.Cleavage-stage biopsy (Blastomere biopsy):
Cleavage-stage biopsy is generally performed the morning of day
three post-fertilization, when normally developing embryos reach the
eight-cell stage. The biopsy is usually performed on embryos with less
than 50% of anucleated fragments and at an 8-cell or later stage of
development. A hole is made in the zona pellucida and one or two 
blastomeres containing a nucleus are gently aspirated or extruded
through the opening. The main advantage of cleavage-stage biopsy over
PB analysis is that the genetic input of both parents can be studied.
3.Blastocyst biopsy:
In an attempt to overcome the difficulties related to single-cell
techniques, it has been suggested to biopsy embryos at the blastocyst
stage, providing a larger amount of starting material for
diagnosis.Human blastocyst-stage biopsy for PGD is performed by
making a hole in the ZP on day three of in vitro culture. This allows the
developing TE to protrude after blastulation, facilitating the biopsy. On
day five post-fertilization, approximately five cells are excised from the
TE using a glass needle or laser energy, leaving the embryo largely intact
and without loss of inner cell mass. After diagnosis, the embryos can be
replaced during the same cycle, or cryopreserved and transferred in a
subsequent cycle.
4.Cumulus cell sampling:
Sampling of cumulus cells can be performed in addition to a
sampling of polar bodies or cells from the embryo. Because of the
molecular interactions between cumulus cells and the oocyte, 
gene expression profiling of cumulus cells can be performed to estimate
oocyte quality and the efficiency of an ovarian hyperstimulation
 protocol, and may indirectly predict aneuploidy, embryo development
and pregnancy outcomes.
GENETIC ANALYSIS TECHNIQUES:

 Fluorescent in situ hybridization (FISH)

 Polymerase chain reaction (PCR)
FISH:
FISH is the most commonly applied method to determine the
chromosomal constitution of an embryo. In contrast to karyotyping, it
can be used on interphase chromosomes, so that it can be used on PBs,
blastomeres and TE samples. The cells are fixated on glass microscope
slides and hybridised with DNA probes. Each of these probes are
specific for part of a chromosome, and are labelled with a fluorochrome.
Currently, a large panel of probes are available for different segments of
all chromosomes, but the limited number of different fluorochromes
confines the number of signals that can be analysed simultaneously.
PCR:
Kary Mullis conceived PCR in 1985 as an in vitro simplified
reproduction of the in vivo process of DNA replication. Taking
advantage of the chemical properties of DNA and the availability of
thermostable DNA polymerases, PCR allows for the enrichment of a
DNA sample for a certain sequence.
Preimplantation genetic haplotyping:
Preimplantation genetic haplotyping (PGH) is a new clinical method of
Preimplantation genetic diagnosis (PGD). PGH was first developed in
2006 at London's Guy's Hospital and greatly advances PGD by using
DNA fingerprinting rather than identifying the actual genetic signature
(such as point mutations).
Embryo transfer and cryopreservation of surplus embryos:
Embryo transfer is usually performed on day three or day five post-
fertilization, the timing depending on the techniques used for PGD and
the standard procedures of the IVF centre where it is performed.
RELIGIOUS OBJECTIONS:
Some religious organizations disapprove of this procedure. The
Roman Catholic Church, for example, takes the position that it involves
the destruction of human life and besides that, opposes the necessary in
vitro fertilization of eggs as contrary to Aristotelian principles of nature.
The Jewish Orthodox religion believes the repair of genetics is okay, but
they do not support making a child that is genetically fashioned.
MOLECULAR GENETICS:
Molecular genetics is the field of biology and genetics that
studies the structure and function of genes at a molecular level. The field
studies how the genes are transferred from generation to generation.
Molecular genetics employs the methods of genetics and 
molecular biology. It is so-called to differentiate it from other sub fields
of genetics such as ecological genetics and population genetics. An
important area within molecular genetics is the use of molecular
information to determine the patterns of descent, and therefore the
correct scientific classification of organisms: this is called molecular
systematics.
GENE THERAPY:
A gene therapy is the process of treating or alleviating diseases by
genetically modifying the cells of the affected person with a new gene
that's functioning properly.
HUMAN GENOME PROJECT:
The Human Genome Project is a molecular genetics project that
began in the 1990s and was projected to take fifteen years to complete.
However, because of technological advances the progress of the project
was advanced and the project finished in 2003, taking only thirteen
years. The project was started by the U.S. Department of Energy and the
National Institutes of Health in an effort to reach six set goals.
These goals included:
•identifying 20,000 to 25,000 genes in human DNA (although initial
estimates were approximately 100,000 genes),
•determining sequences of chemical based pairs in human DNA,
•storing all found information into databases,
•improving the tools used for data analysis,
•transferring technologies to private sectors, and
•addressing the ethical, legal, and social issues (ELSI) that may arise
from the projects.
CONCLUSION:
As Nurses we have to know the various types of genetic testing and
involve in genetic counseling of risk parents to bring out the genetically
healthy offsprings.
THANK YOU