Prenatal diagnosis

Spreading Knowledge is a great Legacy.
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Topic:
Prenatal Diagnosis
Presented
By
Group No: 7
Submitted
To
Dr. Shafiq-ur-Rehman
Department of MicroBiology & Molecular Genetics

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Contents
Introduction: ......................................................................................................................................................... 3
Prenatal diagnosis: ................................................................................................. Error! Bookmark not defined.
Purpose of prenatal diagnosis: ............................................................................................................................. 3
Indication of Prenatal diagnosis:............................................................................ Error! Bookmark not defined.
Methods of Prenatal diagnosis: ............................................................................................................................ 3
Ethical issues associated with prenatal screening: ............................................................................................... 7
ISLAM: ................................................................................................................................................................... 8
Christianity: ......................................................................................................................................................... 12
Hinduism: ............................................................................................................................................................ 14
References: ......................................................................................................................................................... 15

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Introduction:
Prenatal testing consists of prenatal screening and prenatal diagnosis, which are aspects
of prenatal care that focus on detecting problems with the pregnancy as early as possible. These
may be anatomic and physiologic problems with the health of the zygote, embryo, or fetus,
either before gestation even starts (as in pre-implantation genetic diagnosis) or as early in
gestation as practicable.
Screening can detect problems such as, neural tube defects , chromosome abnormalities , and
gene mutations that would lead to genetic disorders and birth defects , such as spina bifida , cleft
palate , Downs Syndrome etc.
Purpose of prenatal diagnosis:
Allows;
 Timely medical treatment of a condition before or after birth.
 Parents to make decisions regarding whether to abort a fetus with a diagnosed condition.
 Parents to prepare psychologically, socially, financially, and medically for a baby with a
health problem or disability.
 Determine the outcome of pregnancy.
Methods of Prenatal diagnosis:
1: Invasive
 Amniocentesis
 Cordocentesis
 CVS
 Biopsy from fetal tissue
 Coelocentesis
2: Non-invasive
 Ultrasonography
 MRI
 Fetal ecocardiography
 Maternal serum screening

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Amniocentesis:
The amniocentesis is early if done around the 12th week of gestation. Today several prenatal
diagnostic clinics perform amniocenteses between the 14th and 16th week of pregnancy. Studies
have shown an increased loss of amniotic fluid if the amniocentesis done before the 12th week
and there is a risk of skeletal anomalies in particular of club feet secondary to oligoamnios.
According to the age of pregnancy from 10 to 30 ml of fluid are obtained during the procedure.
Foetal cells from the upper digestive system, urinary tract, skin and membranes are found in the
fluid and recuperated by centrifugation of the specimen. They are then kept in culture for a
period of 5 to10 days in a culture medium to which calf serum has been added. Cellular
multiplication is then sufficient and allows the preparation of microscopic slides allowing the
numerical and structural studies of the metaphasic chromosomes.
Treatment of chromosomes during the slide preparation reveals segments of different intensity
or banding patterns. Those bands reflect a variable ratio of AT and GC nucleotides on the
chromatids and help to identify chromosome pairs.

Illustration of the amniocentesis procedure
Cordocentesis:
Blood can be obtained from the foetal cord under ultrasound guidance. If at the end of second
trimester there is an urgent need to confirm a diagnosis or to avoid extraordinary measures if
there is there is a threat of premature labor and the foetus is found to be abnormal. This
procedure will allow a short term chromosomal analysis from lymphocytes or an enzyme study.
The rapid cytogenetic study could also confirm or exclude a chromosomal defect previously
found in the amniocytes. This approach can also be useful to delineate mosaicism like for instance
a trisomy 20 which usually has a favourable outcome or identify a chromosomal marker confined
to annexial tissues. Cordocentesis has been used to study severe immunological disorders by
measuring adenosine deaminase and doing T cells analysis.

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Chorionic-villus-sampling(CVS):
The biopsy or aspiration of chorionic villi by the vaginal route yields fetal cells, several of which
are in the process of dividing and can be analyzed during the hours following the procedure.
There is a risk of miscarriage and maternal cell contamination of the specimen thus leading a
number of clinicians to abandon this procedure done before the 12th week of pregnancy.
Reduction limb defects have been reported if the CVS is done towards the end of the first
trimester. In special circumstances when the risk of genetic disease is high as for instance in
hereditary metabolic diseases or if one of the parents is carrier of a balanced chromosomal
translocation, this technique has the advantage of reaching a diagnosis around the 11th or
12th week of gestation.
Biopsy from fetal tissue or Foetoscopy:
Foetoscopy is a technique that allows to visualize the foetus around the end of the second
trimester, by introducing a tube with optic fibres through the abdomen and the uterus allowing
to biopsy the foetus or proceed to surgical interventions. For security reasons this invasive
technique is not a routine procedure and is rarely utilized except in development programs.
Performed between 17-20 weeks gestation. <1 in 1000 women shows infection.
Coelocentesis:
Coelocentesis was performed in 20 singleton pregnancies at 6–10 weeks of gestation and 2–13
days before planned termination.

Ultrasonography:
Ultrasonography makes use of ultrasounds to study tissues and organs. It is applied from the first
trimester but it is only during the second trimester that one can best evaluate foetal morphology
and preferably around the 18th week of gestation.

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Ultrasonography
MRI (magnetic resonance imaging):
MRI is an adjunct to good prenatal ultrasound scan (US). It provides significant additional
information that improves diagnostic accuracy in evaluation of the fetal brain, spine, neck, chest,
abdomen, and urinary tract. MRI provides important anatomic information that helps in planning
delivery and surgical procedures.


Fetal echocardiography:
It is diagnosed most significant chronic heart lesions as early as 17 to 19 week of gestation.
Maternal serum screening:
It is used to identify increased risk of having child with trisomies 18 or 21 or open neural tube effect
while posing no risk to pregnancies. Used maternal serum.

Applications of prenatal diagnosis:
Maternal serum screening:
 Fetoprotein, estriol and HCG estimation
Ultrasonography:

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 Structural abnormalities
Amniocentesis:
 Chromosomal analysis
 Biochemical analysis
Chorionic villus sampling:
 DNA analysis
 Chromosomal analysis
 Biochemical analysis
Fetal blood sampling:
 Chromosomal analysis
 DNA analysis
Ethical issues associated with prenatal screening:
PND raises a number of important ethical issues, some related to diagnostic testing in general and others
related to special circumstances of pregnancy. These issues are most effectively addressed in the context
of a broader understanding because we have a dual obligations,
 Women
 Fetus
1. More testing is beneficial for women but not for child particularly if the information provided
enhances her ability to make sound decision about reproductive matter.
2. Results limits the woman’s sense of control over the decision made about her pregnancy.
3. It can also provide an opportunity for third parties to become involved in, what are usually
considered private matter.
4. It is disturbed structural functionalism because it is a technology that can be misused and lead to
the termination of pregnancy or a loss in one of the parts of society.
5. Disability rights disturbed.
6. Where termination of pregnancy needed it may raise many difficult issues for individual and
families, Wanted pregnancy, many people attribute moral status at mid-trimester and at
viability, Parents who have already viewed the fetus on ultrasound emotionally attached with
fetus.
7. Non-medical use of prenatal diagnosis.
8. Decision to terminate or continue pregnancy based on prenatal diagnostic findings is never an
easy.
9. Social justice affected.

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ISLAM:
According to various Muslim scholar , terminating pregnancy before the ensoulment is allowed when the life
of the mother is in danger, or when the foetus has a serious anomaly. Before the ensoulment, health of the
mother could be interpreted in a broad sense as the physical and mental health, and social safety. From the
Islamic perspective, ensoulment is an important moment in pregnancy; from this moment on, the fetus is
seen as a fully-fledged person. Based on the Prophetic traditions that can be read and interpreted in different
ways, Muslim scholars have had different opinions about the timing of the ensoulment. The majority of
Islamic theologians and legal experts agree that the ensoulment takes place on the 120th day (17 weeks and
one day) after conception. In terms of clinical practice, because gestation is considered to start two weeks
earlier, the 120th day translates to 19 weeks plus one day of gestation. A small minority of Islamic scholars
believes it takes place on the 40th day after conception (or seven weeks plus five days gestation in clinical
practice). Termination after the ensoulment is seen as a crime against a human being, except when the life of
the mother is at stake. After the ensoulment, the life of the mother could be interpreted in a narrow sense as
the physical and mental health. In 1990, Fatwa Number 4 by the Islamic jurisprudence council of Mekkah al
Mukaramah officially confirmed the permissibility of termination of pregnancy in cases of serious anomalies
before the 120th day after conception. This fatwa is also referred to by non-Muslim authors. However,
women’s reproductive choices regarding an affected child have not only been based on religious convictions;
for example, the opinion of a medical expert about the severity of a fetal anomaly and life expectations may
also influence women’s of couples’ reproductive choices. An explanation of the flexible concept of a ‘serious’
anomaly is given by Rispler-Chaim: "the fetus is defective to a degree that it will never develop to live in a
dignified normal life". Down’s syndrome, for example, ranges from mild to very serious forms and most
women in our previous study among pregnant Muslim women from Turkish origin did not consider Down’s
syndrome in general as severe enough to terminate a pregnancy.
In the same study, Muslim women who were interviewed said it would be helpful if midwives knew about the
Islamic perspective on the meaning of life when giving prenatal counseling. This view is supported by
international literature showing that professional knowledge of religious and cultural backgrounds of their
clients is important, but insufficient.
Screening tests in pregnancy:
Question:
As you know, screening tests or diagnostic tests to check for severe handicap in the foetus are
usually performed early in pregnancy with the objective of possible termination of the pregnancy
at approx 19 weeks of pregnancy. I would like to enquire if this is advisable in the Islamic Faith?
Answer:
Praise be to Allah.

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Yes, that is permissible, but with regard to aborting the foetus, some scholars have allowed that
under certain conditions:
1-That the soul should not yet have entered the foetus, i.e. within the first four months of the
pregnancy from the time of conception.
2-There should be a necessary reason for doing so, such as handicap or deformity which is
discovered in the pregnancy, or a risk to the mother. At the same time, if a person can be patient
and put his trust in Allah, that will be better for him with his Lord.
Shaykh Sa’d al-Humayd
But it is essential to note that the doctors may be mistaken in their reports and that the test
results are often imprecise. So we must be very careful when taking serious decisions such as
deciding to abort a pregnancy on the basis of such reports. Some shortcomings in a newborn may
be made up later on, or a fault may be removed and the child may be born healthy. If we assume
that the child is born at full term with a deformity, then bearing that with patience and seeking
the reward of Allah by caring for the child will not be lost with Allah. It will not be a loss, as it is
viewed by many materialists, some of whom want to kill the handicapped because they are a
burden on society. Allah is Most Wise in all that He creates and decrees, may He be glorified and
exalted.
Ruling on aborting a pregnancy in the early stages:
The Council of Senior Scholars issued the following statement:
1 – It is not permissible to abort a pregnancy at any stage unless there is a legitimate reason, and
within very precise limits.
2 – If the pregnancy is in the first stage, which is a period of forty days, and aborting it serves a
legitimate purpose or will ward off harm, then it is permissible to abort it. But aborting it at this
stage for fear of the difficulty of raising children or of being unable to bear the costs of
maintaining and educating them, or for fear for their future or because the couple feel that they
have enough children – this is not permissible.
3 – It is not permissible to abort a pregnancy when it is an ‘alaqah (clot) or mudghah (chewed
lump of flesh) (which are the second and third periods of forty days each) until a trustworthy
medical committee has decided that continuing the pregnancy poses a threat to the mother’s
wellbeing, in that there is the fear that she will die if the pregnancy continues. It is permissible to
abort it once all means of warding off that danger have been exhausted.

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4 – After the third stage, and after four months have passed, it is not permissible to abort the
pregnancy unless a group of trustworthy medical specialists decide that keeping the fetus in his
mother’s womb will cause her death, and that should only be done after all means of keeping the
fetus alive have been exhausted. A concession is made allowing abortion in this case so as to
ward off the greater of two evils and to serve the greater of two interests.
There is a hadith about If a woman dies with a child in her womb, or she dies during childbirth or
after childbirth but within the period of nifaas (post-partum bleeding)……
The Messenger of Allah (peace and blessings of Allah be upon him) said, If a woman dies during
the post-partum period, her child will drag her to Paradise by his umbilical cord.” The umbilical
cord is that which is cut by the midwife when the child is born.
The hadith was narrated by Imaam Ahmad in his Musnad with a saheeh isnaad. (al-Musnad,
3/489). There is a corroborating report narrated by Maalik (1/233) and Abu Dawood, 3/482).
Ruling on aborting a deformed foetus :
Question:
A woman is pregnant and has had several scans, which show that there are deformities in the
foetus. Is it permissible to abort it?
Answer:
Firstly: We have already stated in the ruling on aborting a fetus that is physically deformed, and
that this is permissible before the soul is breathed into the foetus, i.e., before 120 days of
pregnancy have passed. This is allowed after exhausting all possible means of treating the
problem. But after the soul has been breathed into the fetus it is not permissible to abort it
because of deformity.
The parents have to be patient and accept the will and decree of Allah, and remember the words
of Allah (interpretation of the meaning):
“And it may be that you dislike a thing which is good for you and that you like a thing which is
bad for you. Allah knows but you do not know”
[Al-Baqarah 2:216]
“it may be that you dislike a thing and Allah brings through it a great deal of good”
[al-Nisa’ 4:19]

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And the Prophet (peace and blessings of Allah be upon him) said: “How wonderful is the affair
of the believer, for all his affairs are good, and that applies to no one but the believer. If
something good happens to him he gives thanks and that is good for him, and if something bad
happens to him he bears it with patience and that is good for him.” Narrated by Muslim, 2999.
Secondly: Here we will add something from a fatwa of the Standing Committee concerning this
matter.
The Standing Committee was asked about aborting a pregnancy in the fifth month, after scans
proved that the foetus was deformed and the top of the skull was absent.
They replied:
It is not permissible to abort the foetus because of the deformity mentioned in the question.
Allah may heal the fetus during the remainder of the pregnancy, and it may be born normal and
healthy, as has happened to many people.
Fataawa al-Lajnah al-Daa’imah, 21/440.
They were also asked about a pregnant woman who was treated for cancer with radiotherapy,
which would affect the foetus and cause it to be born deformed – is it permissible to abort it?
They replied:
It is not permissible to abort the fetus which it is feared may be deformed. Rather the matter
should be left to the will of Allah; it may be free of deformity.
Fataawa al-Lajnah al-Daa’imah, 21/249.
They were also asked about a woman in the fifth month of pregnancy; scans had shown the
presence of several deformities in the foetus which made the doctors sure that it would die after
birth. These deformities were as follows: a deformity in the heart, a severe deformity of the
spinal cord and spinal column, the size of the head is very small, there is a large sac between the
head and body that is bigger than the head, the intestines are outside the abdominal cavity, and
there is a deformity in the brain. Is it permissible to abort it?
They replied:
After studying the question, the Committee replied that it is not permissible to abort this
pregnancy, because often the doctor’s reports are speculative, and the basic principle is that the
fetus must be respected and it is forbidden to abort it, because Allah may make the foetus whole
during the remainder of the pregnancy, so it may be born free of the things that the doctors

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mentioned, even if what they said was correct. We must think positively of Allah and ask Him to
heal him and make him whole, and to cause him to be born healthy. His parents have to fear
Allah and ask Him to heal him from all ills and to delight them with a healthy child. The Prophet
(peace and blessings of Allah be upon him) said: “Allah says: ‘I am as My slave thinks I am.’”
Fataawa al-Lajnah al-Daa’imah, 21/250-251.
They were also asked about a woman in the fifth month of pregnancy, whose foetus has some
deformities which expose the mother’s life to danger. Is it permissible to abort it?
They replied:
After studying the question, the Committee replied that if the situation is as described, and
continuation of the pregnancy to full term will result in danger to the mother’s life, then there is
nothing wrong with aborting the pregnancy before it reaches full term, in order to protect the
mother’s life. But if the abortion is because of the deformities only, then it is not permissible to
abort the pregnancy.
Fataawa al-Lajnah al-Daa’imah, 21/452.
Christianity:
For Christians, the practice of prenatal diagnosis (PND) is ethically problematic. Western ethics
has been traditionally based on Judeo-Christian values. There are many procedures involved in
prenatal genetic screening and diagnosis and the subsequent management pathways that need
to be considered carefully from a biblical framework. Undoubtedly, the current ethical climate in
obstetric care will create dilemmas for many Christian doctors. As scripture is silent on many
issues that face us in the 21st century, ethical principles need to be derived. We live in what is
called the “post-modern” era. It is a time of both serious challenge to faith and a fresh
opportunity to engage in ethical discussion through the Christian principles found in scripture.
SCRIPTURAL PRINCIPLES FOR PRENATAL ETHICS:
Reading scripture for ethics in our post-modern context starts with faith and an openness
inspired by the Holy Spirit. Consequently, we identify that the following approach may help us.
There are cultural and literary genre issues with all biblical texts. The best information can help
start the conversation around ethical concern. For Christians, ethics starts in the community of
faith where it can be grounded in worship/liturgy and the fruit of the Spirit at work among the
people of God. God’s truth providentially extends beyond the church.

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For Christian doctors, the doctrine of man being made in the image of God will have an impact
on these decisions. Bible also prohibit the abortion as it is mentioned: "Whoever sheds human
blood, by humans shall their blood be shed; for in the image of God has God made
mankind."(GENESIS 9:6)
Furthermore, “And now the LORD says-- he who formed me in the womb to be his servant to
bring Jacob back to him and gather Israel to himself, for I am honored in the eyes of the LORD
and my God has been my strength”(Isaiah 49:5). Since the moment of formation in the womb
of the mother God has been involved.
Similarly, Abortifacient is a substance that induces abortion. It is not considered as a Christian
family planning method weather it is legal or illegal.
Genesis teaches us that human beings were made in the image of God (Genesis 1:26–27).
However, we also know that as a result of the fall, the image is tarnished and our reasoning is
flawed.
Abnormalities can exist from the beginning of human development and we cannot always repair
the damage. But our understanding allows us to place value on all human beings, not because of
who or what they are, or what they can do, but because of the God in whose image they are
made. Therefore, genetic aberrations will not change the innate value of human fetuses. As
embodied souls we understand the complexity of human nature and reductionist views of human
beings can be rejected. We image God also as social and relational beings. This is not surprising
given the Trinitarian understanding of God for Christians. We are not autonomous individuals in
this sense, and where possible family members beyond the mother alone should be involved in
healthcare decision making. This will be influenced by our biblical view of parenthood, which sees
children as a gift from God to be gratefully received, rather than a product of manufacture
which can be rejected when imperfect (Ps 127:3–5). We need to remember that God has already
redeemed us through the saving work of Christ Jesus, and that all creation will one day be free
from suffering (Revelation 21: 4).
Christians have been given a mandate to side with the oppressed, the needy and the vulnerable.
This was part of Jesus’s manifesto (Luke 4:18–19). The care of orphans, widows, aliens and the
poor is a recurring theme in the Old Testament (Isaiah 10:8). This mandate calls us to extend care
to the fetus in its vulnerable state, and to offer prenatal diagnosis and treatment where indicated.
The reality of our lives is the fallenness of our world, which disrupts all relationships, even at the
level of chromosomes and genes. Parents will continue to demand prenatal genetic testing,
either for knowledge or decision making regarding the continuation or discontinuation of
pregnancy.

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Hinduism:
Hindu medical ethics stem from the principle of ahimsa - of non-violence.
When considering abortion, the Hindu way is to choose the action that will do least harm to all
involved: the mother and father, the foetus and society.
Hinduism is therefore generally opposed to abortion except where it is necessary to save the
mother's life.
Classical Hindu texts are strongly opposed to abortion:
 one text compares abortion to the killing of a priest
 another text considers abortion a worse sin than killing one's parents
 another text says that a woman who aborts her child will lose her caste
Traditional Hinduism and many modern Hindus also see abortion as a breach of the duty to
produce children in order to continue the family and produce new members of society.
Many Hindus regard the production of offspring as a 'public duty', not simply an 'individual
expression of personal choice' (see Lipner, "The classical Hindu view on abortion and the moral
status of the unborn" 1989).
In practice, however, abortion is practiced in Hindu culture in India, because the religious ban on
abortion is sometimes overruled by the cultural preference for sons. This can lead to abortion to
prevent the birth of girl babies, which is called 'female foeticide'.
The status of the foetus in Hinduism:
The soul and the matter which form the foetus are considered by many Hindus to be joined
together from conception.
According to the doctrine of reincarnation a foetus is not developing into a person, but is a person
from a very early stage. It contains a reborn soul and should be treated appropriately.
By the ninth month the foetus has achieved very substantial awareness.
According to the Garbha Upanishad, the soul remembers its past lives during the last month the
foetus spends in the womb (these memories are destroyed during the trauma of birth).
The Mahabharata refers to a child learning from its father while in the womb.
Reincarnation:

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Abortion and reincarnation
The doctrine of reincarnation, which sees life as a repeating cycle of birth, death and rebirth, is
basic to Hindu thinking.
The doctrine of reincarnation can be used to make a strong case against abortion:
If a foetus is aborted, the soul within it suffers a major karmic setback. It is deprived of the
opportunities its potential human existence would have given it to earn good karma, and is
returned immediately to the cycle of birth, death and rebirth. Thus abortion hinders a soul's
spiritual progress.
Reincarnation can also be used to make a case that abortion should be permitted. Under the
doctrine of reincarnation, abortion only deprives the soul of one of many births that it will have.
The consequences of abortion in the framework of reincarnation are therefore not as bad as they
are in those religions where a soul gets only one chance to be born and where abortion deprives
the soul of all possibility of life.
Abortion and non-violence:
Ahimsa - non-violence - teaches that it is wrong not only to kill living beings, but to also to kill
embryos.
Hindus believe that all life is sacred, to be loved and revered, and therefore practice ahimsa or
non-violence. All life is sacred because all creatures are manifestations of the Supreme Being.


References:
https://en.wikipedia.org/wiki/Prenatal_testing
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5548328/
https://www.slideshare.net/dasnelaturi/prenatal-diagnosis-75957509
http://atlasgeneticsoncology.org/Educ/PrenatID30055ES.html
https://islamqa.info/en/answers/9249/screening-tests-in-pregnancy
https://islamqa.info/en/answers/42321/ruling-on-aborting-a-pregnancy-in-the-early-stages

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https://islamqa.info/en/answers/12289/ruling-on-aborting-a-deformed-foetus
https://islamqa.info/en/answers/13317/abortion-of-pregnancy-resulting-from-rape
file:///C:/Users/OWNER/Downloads/Prenatal+Genetic+Screening+and+Diagnosis+edited+version.pdf
https://www.bbc.co.uk/religion/religions/hinduism/hinduethics/abortion_1.shtml