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Prenatal Screening dan Diagnostic Testing pada Sindrom Down

http://www.kompasiana.com/nikenkusumaningrum/prenatal-screening-dan-diagnostic-
testing-pada-sindrom-down_55127774a33311bb56ba864a
Sindrome Down merupakan kelainan genetik yang paling sering ditemukan, di mana terjadi
abnormalitas pada kromosom 21. Kelainan ini dapat terjadi pada 1 dari 380 kehamilan.
Penderita sindrom Down biasanya mengalami masalah kognitif, kelainan jantung, serta
masalah kesehatan yang lain. Berdasarkan data yang ada, di Indonesia terdapat sekitar
300.000 kasus sindrom Down.
Saat ini, skrining prenatal untuk sindrom Down dan beberapa kondisi khusus lain telah
menjadi praktek standar di negara-negara maju. Skrining prenatal adalah prosedur standar
untuk ibu hamil untuk mengetahui penyakit herediter anak yang akan dilahirkan. Dengan kata
lain, tes skrining dapat memberikan informasi apakah kehamilan mempunyai "risiko"
abnormalitas tau tidak. Skrining prenatal sering direkomendasikan untuk wanita hamil di atas
usia 35 atau orang tua yang memiliki riwayat penyakit genetik. Pemeriksaan ini tidak
memberikan jawaban ya atau tidak tetapi mengidentifikasi adanya peningkatan risiko
kondisi tertentu sehingga tes diagnostik definitif dapat dilakukan. Jika hasil tes menunjukkan
adanya abnormalitas, informasi yang memadai di awal kehamilan akan memberi keyakinan
pada orang tua dan memberikan ketenangan pikiran selama sisa kehamilan.
Skrining prenatal dilakukan dengan cara pemeriksaan darah pada trimester pertama maupun
trimester kedua kehamilan. Selain itu, ultrasonogafi (USG) juga dilakukan pada trimester
pertama untuk mengukur jumlah cairan di jaringan bagian belakang leher bayi. Ada dua
pilihan skrining yang berbeda: (1) First Trimester Screening (FTS) merupakan skring yang
dilakukan pada 3 bulan pertama kehamilan, biasanya dilakukan antara minggu ke-9 sampai
13 minggu 6 hari kehamilan dan (2) pemeriksaan trimester kedua yang dilakukan saat mingu
ke-14 sampai 18 kehamilan. Hasil ini menunjukkan apakah bayi mempunyai risiko
mengalami sindrom Down.
FTS akan mengkombinasikan hasil pemeriksaan darah dan USG yang dihitung
dengan software untuk memberikan informasi tentang risiko memiliki bayi dengan sindrom
Down. Tes ini dapat mendeteksi beberapa kelainan lain. FTS juga dapat memberitahu jika
wanita memiliki kehamilan kembar, namun biasanya spina bifida tidak terdeteksi.
Konsentrasi dua hormon dalam darah (b-hCG dan PAPP-A) akan diperiksa apakah terdapat
perubahan selama kehamilan. Jumlah hormon ini sering berubah ketika bayi mengalami
masalah kromosom serius. Pada USG dilakukan pengukuran ketebalan area di belakang leher
bayi. Daerah ini, yang dikenal sebagai nuchal translucency (NT), seringkali lebih besar pada
bayi dengan sindrom Down. Crown-Rump Length serta diameter biparietal bayi juga diukur
untuk menghitung usia kehamilan.
Second Trimester Screening adalah pemeriksaan yang dilakukan saat kehamilan memasuki 3
bulan kedua. Tes ini sering disebut juga sebagaiMaternal Serum Screening (MSS) atau triple
test. Darah diperiksa antara 14 sampai 18 minggu kehamilan, tetapi idealnya dilakukan antara
15 sampai 17 minggu. Darah ibu diperiksa untuk tiga hormon yaitu estriol, bebas B-hCG, dan
fetoprotein alfa.
Diagnostic testing dilakukan untuk mengkonfirmasi kelainan kromosom yang terjadi pada
bayi. Hasil pemeriksaan digunakan untuk memastikan diagnosis serta mengesampingkan
kondisi genetik sebelum bayi lahir. Jenis tes diagnostik ini meliputi Chorionic Villus
Sampling (CVS) dan amniocentesis.
CVS adalah pemeriksaan sepotong kecil jaringan plasenta (villi chorionic) dari rahim selama
awal kehamilan untuk skrining cacat genetik pada bayi. CVS bisa dilakukan melalui leher
rahim (transcervical) atau melalui perut (transabdominal). Hal ini dapat dilakukan sekitar 10
sampai 12 minggu setelah menstruasi terakhir. Pemeriksaan dilakukan di laboratorium untuk
melihat ada atau tidaknya kelainan kromosom. Jika hasilnya normal berarti tidak ada tanda-
tanda cacat genetik. Resiko CVS adalah hanya sedikit lebih tinggi daripada sebuah
amniosentesis. Komplikasi yang mungkin terjadi adalah perdarahan, infeksi, keguguran,
ketidakcocokan Rh pada ibu, dan pecah ketuban.
Amniosintesis adalah tes untuk melihat cairan ketuban yang mengelilingi bayi (janin). Cairan
ini akan dianalisis untuk mendapatkan informasi tentang kesehatan bayi. Hal ini biasanya
dilakukan pada 15-18 minggu kehamilan, tetapi prosedur amniosentesis sekarang lebih
banyak dilakukan pada 11-14 minggu kehamilan. Risiko keguguran kurang dari 1 dalam 100
(kurang dari 1%). Sebuah penelitian menyatakan bahwa amniosentesis pada trimester kedua
lebih aman daripada CVS transcervical dan amniocentesis pada trimester awal kehamilan.
USG memberikan gambar bayi dalam rahim. USG yang dilakukan pada trimester kedua
kehamilan adalah USG struktural rutin. Hal ini dapat dilakukan pada 18 - 20 minggu
kehamilan. USG ini direkomendasikan untuk memeriksa posisi plasenta, jumlah cairan
ketuban, pertumbuhan bayi, dan mendeteksi kelainan struktural pada janin seperti jantung.
anggota badan, perut, tulang, otak, tulang belakang, dan ginjal.

Prenatal Diagnostic Tests and the Social, Legal, and Ethical Implications
https://www.ndsu.edu/pubweb/~mcclean/plsc431/students/mclean.html
Sara McLean
Copyright 1997
Introduction
Jackie and Michael are expecting their first baby. Jackie is 32 years old and is in good health.
She is 15 weeks pregnant and wants to do everything possible to ensure a healthy baby. Even
though they do not have risk factors within their families, she and Michael decide to have an
amniocentesis.
The results indicate that their baby is a female with Turner Syndrome. This condition is
caused by a missing X chromosome and results in short stature, ovarian failure, and medical
problems involving the heart, thyroid glands, and kidneys. Some of these conditions can be
treated and managed with great success. The question that arises after diagnoses is whether or
not they will choose to terminate the pregnancy with an abortion or carry the child to full
term.
The availability of methods that determine the genetic predisposition of a fetus gives rise to a
whole array of questions and issues that must be confronted as we develop policies to deal
with genetic testing. In this essay, I will present current and future methods for prenatal
diagnosis, ethical concerns and related problems dealing with this new technology, my
personal opinion on the issue, and finally, future goals in the science of genetics.
All of us are potential carriers of several deleterious recessive genes that could be lethal to
our offspring if combined with another recessive allele carrying the same fate (IOM 1994).
The chances of a genetic disease being passed on are 1 in 100 Americans born today (March
of Dimes 1997). Because of the risks involved, many people are having prenatal tests to
examine the genetic makeup of their fetuses. For many couples, this option enables them to
ensure they will have healthy children that they might not have had because of a history of
inherited diseases. This information relieves a lot of parental anxiety and unfulfilled
expectations of an impaired child.
People who may be especially interested and advised for testing might include couples with a
family history of genetic disease, those that might have a birth defect, pregnant women over
the age of 34, couples who already have a child with a genetic disorder, and couples
concerned about specific disorders that occur more frequently within their ethnic group
(March of Dimes 1997).
Techniques
Currently, there are four prenatal diagnosis techniques used. The first, and safest method, is
an ultrasound. It is noninvasive and can assess and evaluate gestational age, fetal position,
growth, development, and any structural birth defects. When performed by highly skilled
operators, abnormalities can be detected with as high as 90% accuracy (IOM 1994).
The next technique routinely performed for prenatal diagnosis is amniocentesis. A long
needle is inserted into the mothers uterus to withdraw a sample of amniotic fluid containing
cells shed by the fetus. The cells are cultured and analyzed for chromosome abnormalities.
Despite the lengthy time in obtaining results because the cells need to be cultured, this
method has become widely accepted as a safe and accurate way to determine genetic
disorders.
Chorionic Villus Sampling (CVS) is yet another technique that can be performed very early
on in gestation-between 9 and 12 weeks. A catheter is passed through the cervix into the
uterus, and a sample of the chorionic villus surrounding the sac, which protects the fetus, is
obtained. Large amounts of DNA are gathered and analyzed within 24 hours. Because of the
quick results and use early on in pregnancy, abnormalities can be identified and used to make
more acceptable decisions about selective termination of the pregnancy. Abortion is also
much safer at this early stage (Weatherall 1991).
The last method involves fetal blood sampling and is called percutaneous umbilical cord
sampling (PUBS). A needle is inserted into the umbilical cord and fetal blood is obtained and
evaluated for metabolism or hematologic abnormalities (IOM 1994).
In addition, a couple of new technological advances may become combined with prenatal
diagnosis in the near future. First, the use of dot-blot technology could be used to detect point
mutations more easily and more accurately. CVS and PUBS methods are still used to obtain
the DNA samples; however, the DNA is then simply spotted on a nylon filter, probed with
oligonucleotides, and non-radioactively labelled with probes to identify genetic diseases
(Weatherall 1991).
Another advancement on its way combines prenatal diagnosis with in vitro fertilization. This
technique would involve acquiring a number of fertilized ova and analyzing them for a
particular genetic disorder before implanting a healthy one into the uterus. This approach may
be more acceptable to couples who oppose abortion (Weatherall 1991).
Pros and Cons
Although many of these options for prenatal diagnosis are being used and benefited from by
amiable couples wishing to have healthy children, opponents of these genetic tests are not
giving up without a fight. They bring up many concerns and issues that must be dealt with if
we are to evolve in the science of genetics.
Many opponents believe in the preservation of all life, and until we come up with cures to all
genetic diseases, terminating the lives of inflicted fetuses will remain prevalent in our society.
Besides the fact that eliminating a human being that cannot be cured violates the principles of
medicine, prenatal diagnosis combined with the option of terminating the pregnancy raises
two more issues: selective breeding, or eugenics, and value judgements.
The first, eugenics, might include using abortions as a means of eradicating a disease and
eliminating an entire population that did not fit into societys criteria for an ideal community.
Also, specific physical characteristics, such as eye color and IQ, will eventually be
obtainable. Will we, as a society, emerge into a supremacy in which those with bad genes
will be scorned.
A second problem that might need to be addressed involves value judgments. Prenatal tests
are being used more and more. Parents are choosing to abort a child based on any indication
of a birth defect, no matter what the severity. The Institute of Medicine recommends that
prenatal diagnosis not be used for minor conditions or characteristics (Botkin 1995). But who
decides what a minor condition is? Different views depend on the couples race, culture,
education, religious beliefs, and economic status. The decision will also depend on what
information about the abnormality is presented to them and how they interpret the data.
Undoubtedly, these problems address the need for ethical and legal standards. A parental
crusade for the perfect baby is well on its way. While we must uphold the freedom of choice,
we must decide what is best for society as a whole.
While there are opponents to the use of these tests, more people are in favor of them. Prenatal
testing and selective abortion to avoid a seriously genetically impaired child is widely
accepted in the United States. It was determined that 79% of Americans believe abortion
should be available for a fetus with a severe abnormality (Botkin 1995). Some believe that
the birth of a child with a severe genetic disorder may bring the mother and/or family
distress, psychological harm, emotional harm and suffering, loss of a child, loss of
opportunities, loss of freedom, isolation, and financial expenses (Morejon 1996).
An additional potential threat that could present itself with the birth of a defective child may
be the quality of the relationship between parents and the child. For instance, a child may be
subjected to activities that do not necessarily benefit the child because of the parents lack of
preparation for dealing with the child. Also, the childs personal freedom may be restricted or
his/her condition may lead to fragile treatment.
Societal discrimination also makes raising a child much more difficult, not only for those
actually having a genetic disease, but also for individuals who have a predisposition to one.
The latter refers to late onset disorders in which the person may be symptomless until later on
in his/her life. There has already been over 200 reported cases cases of genetic discrimination
involving health insurance, employment, and adoption (Arc 1997). A key element that must
be remembered, however, is that just because we may have the gene for a disease doesnt
mean we will get the disease. Many other physical and environmental factors contribute to
the development of the disease.
According to Francis Collins, Director of The National Center for Human Genome Research,
all of us carry probably 4 or 5 really fouled up genes and another couple of dozen that are not
so great and place us at risk for something (Arc 1997). If this is true, everyone is genetically
impaired and could be subject to discrimination.
My Beliefs
My personal opinion coincides with the majority of the population. Although my ideal
scenario would be carrier screening of all at risk couples before conception, I believe in the
use of prenatal tests to determine severe abnormalities in a fetus. I would never want to
subject any child to a disease in which the consequences are severe and detrimental as well as
something the child has no control over. I cannot bear the thought of any child suffering
needlessly because of an unforeseen deleterious inheritance from its mother and father.
To me, the benefits far outweigh the consequences of bringing a helpless baby who may
surcome to a serious and fatal destiny into this world . Until we can intervene with effective
treatments, I believe testing is necessary.
Upon completion of the Human Genome Project, a worldwide effort to map out the entire
sequence of human genes, we will be able to develop these treatments. New diagnostic and
prevention techniques will enable us to detect genes leading to disease. The knowledge will
bring about an increased availability of genetic testing and gene therapy. Along with this
profound discovery, the field of genetics will give rise to an even more debated issue.
Government intervention of standards and policies will be called upon to regulate genetic
testing.
To prepare citizens for informed personal decision making, public education and counseling
will become vital to understand these new genetic concepts. We will also need to rely on our
pre-existing knowledge and values if this emerging technological field is to be dealt with
appropriately. My outlook for the future is optimistic. We will be able to cure diseases we
never dreamed possible, and the lives of humans will be improved eminently.
References Cited
Arc. Genetic Discrimination. Obtained from WWW 10/09/97:
http://www.the.arc.org/depts/gbr03.html
Botkin, Jeffrey R. Fetal Privacy and Confidentiality. Hastings Center Report, Sept.-Oct.
1995:32-39.
Institute of Medicine. Assessing Genetic Risks. National Academy Press, Washington, D.C.
1994.
March of Dimes Birth Defects Foundation. Genetic Testing and Gene Therapy: What They
Mean to You and Your Family. Obtained from WWW 10/09/97:
http://ubeclu.unibe.ch/insel/GENETEST.HTML
Mattei, Jean-Francois. Prenatal Diagnosis. World Health, No. 5, Sept.-Oct. 1996:22-23.
Morejon, Diana Punales. Commentary. Hastings Center Report, May-June 1996:21-22.
Weatherall, D.J. The New Genetics and Clinical Practice. Oxford University Press, 1991.

Prenatal Genetic Screening Tests: Benefits & Risks


By Cari Nierneberg, Live Science Contributor | December 18, 2014 10:54pm ET
http://www.livescience.com/45949-prenatal-genetic-testing.html
Women are routinely offered a variety of genetic screening tests during their first three
months of pregnancy to evaluate the risk for genetic disorders in their unborn baby. The first
trimester screening tests are usually done between the 10th and 13th week of pregnancy.
They involve measuring the level of certain substances in the mother's blood and obtaining an
ultrasound. Genetic screening tests can be done during the second trimester as well.
Information from these screening tests, along with other risk factors such as a woman's age
and a couple's ethnic background and family history of genetic disorders, are used to help
calculate the odds that the fetus might be born with genetic disorders, such as Down
syndrome, cystic fibrosis, Tay-Sachs disease, or sickle cell anemia.
Birth defects affect 1 in 33 babies born in the United States each year, according to the
Centers for Disease Control and Prevention (CDC). The CDC also said that birth defects can
occur at any point during pregnancy, but most of them take place during the first trimester,
when the baby's organs are forming.
Screening tests can help tell parents-to-be whether the fetus may be at high or low risk of
having a chromosomal abnormality, but the only way to actually know if the baby will be
born with a problem in its genetic makeup is by doing diagnostic testing, according to the
National Institutes of Health (NIH).
Whether or not a woman decides to undergo genetic screening is her own choice, as positive
results could produce anxiety and conflicting emotions.
Making a choice
Genetic screening is offered to all pregnant women, and it's usually discussed during the first
prenatal visit, said Dr. Andrea Greiner, a maternal and fetal medicine specialist at the
University of Iowa Hospitals and Clinics. "It's optional, but not required."
In trying to decide whether or not to undergo prenatal genetic screening, Greiner
recommended that moms-to-be ask themselves if they want to know if their babies risk for
certain chromosomal abnormalities or genetic defects is increased, and if it is, then how will
this information affect them.
"Every woman wants to believe that her pregnancy is normal and uncomplicated," Greiner
said. If a pregnant woman chooses to have genetic screening, there is a possibility the results
could come back abnormal, she added, explaining that a lot of women don't go through that
thought process before getting screened but need to.
Greiner said that one common misconception about genetic screening and testing that some
pregnant women have is the only reason to do them is if they were going to have an abortion
because of a positive result. But she said that's not the case.
"Most women do prenatal genetic testing to know what the risk is before the baby is born,"
Greiner said. They would rather know the information during pregnancy than at birth to make
plans or gain further knowledge, she explained.
Practical implications of testing
Greiner explained the key differences between genetic screening and diagnostic testing, as
well as how and when these tests are done and their practical implications:
Screening vs. diagnostic testing
Genetic screening and genetic testing are not the same things. Genetic screening is measuring
a level of risk for genetic diseases in the fetus, Greiner said.
Screening tests assess the degree of risk, or chance, that the fetus may potentially have certain
common birth defects, but they cannot tell with certainty if the baby actually has the problem,
according to The American College of Obstetricians and Gynecologists.
There are no dangers to the mother or the fetus from these screening tests, but positive
screening results are not diagnostic.
A new screening test done at 10 weeks of pregnancy, called cell-free fetal DNA testing, uses
the mother's blood to detect Down syndrome. Not covered by all health insurances, cell-free
fetal DNA testing should only be used by women who are at high risk for chromosomal
abnormalities, Greiner said.
"The science is still very new and patients should use some caution," she explained, but
Greiner said it's important for women to know that cell-free fetal DNA is not a replacement
for diagnostic testing if it shows a positive result.
Pregnant women are recommended to follow-up a positive screening result with genetic
counseling and undergoing one of two invasive diagnostic tests, which have greater accuracy
and reliability than genetic screening alone.
Diagnostic tests can actually detect many genetic conditions caused by chromosome
abnormalities. They usually can tell prospective parents whether or not their fetus has a
particular genetic problem.
Preconception genetic screening vs. prenatal genetic screening
During pre-conception genetic screening, carrier tests can be done before pregnancy to
determine whether the mother or father carry a gene for genetic disorders that might run in
families, such as cystic fibrosis and sickle cell anemia, and could be passed on when the
couple conceives.
Genetic counselors are trained health professionals, who can help explain the meaning of
screening results and interpret the risks of an inherited genetic disorder.
In prenatal genetic screening, a pregnant mother receives a blood test to determine a level of
risk for genetic conditions in the fetus.
Pros and cons of genetic screening
When women need help weighing the pros and cons of genetic screening, Greiner said she
tells them to consider several questions: First, she asks them, "Would they want to know prior
to their baby's birth if the child was at an increased risk for common chromosomal
abnormalities?"
Second, Greiner suggested women think about "What would a positive screening test result
mean to them?"
One of the benefits of undergoing genetic screening is that a pregnant woman obtains
information about possible chromosomal abnormalities in the fetus.
But the disadvantages are that if the screening yields positive results, then a woman and her
partner will have to deal with this new information and choose whether or not to act on it.
They may follow-up by seeking out genetic counseling and undergoing prenatal diagnostic
tests to more accurately detect whether the fetus actually has a genetic condition.
Genetic screenings can give false positive results, meaning they can be wrong and lead
expectant parents to believe their unborn babies might have genetic abnormalities when they
do not. There's also a chance the screening will not pick up a chromosomal abnormality when
there is one.
That's why pregnant women should not be making decisions about terminating a pregnancy
based on a positive screening result alone without getting an invasive diagnostic test to
confirm or rule out a diagnosis.
Pros and cons of genetic diagnostic testing
Greiner said that some of her patients ask her why they should do prenatal genetic testing
because if there is a positive result, the genetic problem detected in the baby can't be
changed, fixed or treated.
Her answer to that question is that no one likes a surprise. Knowing this information in
advance can help expectant parents plan and prepare themselves as well as their home for a
baby who may have special needs.
Greiner said women need to ask themselves whether a positive diagnostic testing result
would cause them anxiety if they choose to continue the pregnancy, or if these genetic
findings may provide reassurance if they decide to terminate the pregnancy as a result of the
diagnosis.
Two common types of diagnostic testing
Both diagnostic tests are invasive and require that cells be extracted from the fetus and
analyzed under a microscope. This allows geneticists to determine whether the fetus has too
few or too many chromosomes present, or if the chromosomes are damaged and could result
in a genetic problem.
Chorionic Villus Sampling (CVS)
Done during the first trimester of pregnancy usually at 10 to 12 weeks, this diagnostic test
involves taking a small sample of cells from the placenta. Placental tissue contains the same
genetic material as the fetus and can be checked for chromosomal abnormalities and other
genetic disorders. CVS cannot identify neural tube defects, such as spina bifida, which can be
detected by amniocentesis.
How it's done: Depending upon where the placenta is located and using ultrasound for
guidance, a small tube is inserted through either the mother's abdomen or her vagina and a
small tissue sample is withdrawn from the placenta.
Possible risks: CVS has a slightly higher risk of miscarriage than amniocentesis. CVS has a 1
percent risk of miscarriage, according to the Mayo Clinic.
Amniocentesis
"Amniocentesis is considered the gold standard for prenatal genetic testing," Greiner said.
How it's done: A long, thin needle is inserted into the mother's abdomento extract a sample of
the amniotic fluid surrounding the fetus. The procedure is usually done between the 15th and
20th week of pregnancy, and the amniotic fluid contains cells from the fetus with genetic
information about the unborn child.
Possible risks: Amniocentesis carries a lower risk of miscarriage than CVS, about 1 in 400,
Greiner said.

Will New Genetic Tests Lead to More and Earlier Abortions?


Arthur L. Caplan, PhD
http://www.medscape.com/viewarticle/813186
Hi. I am Art Caplan at the New York University Langone Medical Center Division of
Medical Ethics. Today I want to discuss an interesting ethical challenge that is emerging from
a technological innovation in the area of genetic screening.

Historically, a pregnant woman who was deemed at risk of having a child with a severe birth
defect would have undergone genetic testing using a technique called amniocentesis. Many of
you know that this involves putting a needle into the pregnant woman's belly and pulling
amniotic fluid out so that you can get cells from the fetus and analyze their genetic
composition, looking for abnormalities such as Down syndrome.

That test can only be performed when the fetus is large enough to be sloughing off cells.
Inserting the needle into the womb poses some risk of harm to the fetus if the needle
accidently nicks it, or rarely by causing an abortion. There are also dangers of infection for
the mom. But for women over age 35, the potential of having a child with a severe congenital
defect has been deemed large enough to justify taking those risks.

That technique is soon to be in the dustbin of history because we have a new technology just
emerging that I think is going to push it away forever. That new technology involves the
ability to draw cells from the pregnant mother's blood and find fetal cells circulating inside
the mother's bloodstream.

If you can get those cells out and then copy them or clone them, you can perform the same
type of genetic tests that you can do with amniocentesis, but with no risk to the fetus. There is
no needle injected into the womb. You are just taking a blood sample and analyzing the fetal
cells that way.

So...What's the Ethics Problem?

This is clearly going to be a technique that replaces amniocentesis, so what is the ethical
problem? Isn't this a technology that is all to the good? No more needles, no more risk to
mom, no more infections, and so on. Unfortunately, there are some potential ethical
problems. Amniocentesis is a test performed on perhaps 5% of pregnancies. The ability to
draw cells from the mom's blood will quickly become a test that is used on 100% of pregnant
women. I would be surprised if it does not become the standard of care.

More testing means that more women may find problems with their fetuses. This test can be
performed much earlier than amniocentesis, possibly enabling fetal screening at 7 to 9 weeks.
Many people worry that this will lead to more pregnancy terminations. Women who would
not have had testing before this will undergo testing, and some may discover things about
their fetus that they will not accept, be it a birth defect or some other disease risk factor.
Because it is earlier, the burden of abortion may seem morally more acceptable to women
than having an abortion much later in pregnancy. Thus, while this technology brings much
that is good -- earlier and less risky fetal cell screening -- it certainly will wind up being
controversial.
If it leads to more abortions, many critics will say that it is not a good thing. It is something
we have to try to restrict. Conversely, if it is easy to do, many doctors will say this must be
done routinely for everyone, and it quickly will become the standard of care. But that means
much more counseling and much more discussion of the findings. It is one thing to find
Down syndrome and decide what to do early in the first trimester of pregnancy. It is another
thing to find that your baby has a high risk for breast cancer when they get to be 50 years old.
Is that a reason to terminate a pregnancy?

I believe we will have many ethical discussions about this rapidly evolving technique of fetal
cell screening using blood tests. The good news is that it is safer, more efficient, and less
burdensome to the fetus and mom than amniocentesis. Perhaps the bad news is that it will
result in a lot more ethical arguments and discussions about the rationale for ending a
pregnancy, what constitutes a disability, and who is going to do the counseling with women
who previously have never had fetal testing during their pregnancies.