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Eduvest – Journal of Universal Studies Volume 3 Number 3, March, 2023 p- ISSN 2775-3735-
e-ISSN 2775-3727 |
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ETHICS AND LEGAL ASPECT OF TERMINATION OF PREGNANCY WITH TRISOMY 13
(PATAU SYNDROME) |
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Dian Andriani Ratna Dewi1,2, Febriansyah
Darus2, Hayra Diah Avianggi2, Gunawan Rusuldi2, Sutan Finekri Arifin
Abidin2 1Faculty of Medicine, The Republic Indonesia Defense University, Indonesia 2RSPAD Gatot Subroto, Indonesia |
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ABSTRACT |
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Trisomy 13 is a
serious genetic anomaly in the fetus that is one of the causes of abortion as
a result of the chromosomal aneuploidy. Trisomy 13 affects roughly 1 in
10,000 to 20,000 live births, and more than 95% of pregnancies end in
prenatal death. Due to the higher prevalence of preeclampsia and the danger
of maternal death associated with early birth, abnormalities in these infants
also have an impact on the mother's health. There is a medical emergency
condition to save the mother's life in trisomy 13 pregnancy. Termination of
pregnancy avoids the adverse effects that will be experienced by babies with
severe congenital abnormalities. According to Law No. 36 of 2009 concerning
Health, women who eligble for abortions if there are medical reasons to do
so. Pregnancies that endanger the fetus' life and health, including those
with severe genetic diseases that cannot be treated so that they have a
negative impact on the baby and mother's life are medically indicated for
medical provocatus abortions. The problems in this paper are 1) What are the
ethical problems found in pregnancies with a fetus diagnosed with a genetic
disorder due to trisomy 13? 2) What is the procedure for implementing medical
abortion provocation that fulfills ethical aspects and complies with
applicable regulations. To answer these problems, a research using normative
legal research, accompanied by reports of cases of abortion. This normative
legal research focuses on ethical and legal aspects of the implementation of
provocative medical abortion following statutory regulations. This normative
legal research starts with articles and case reports of fetal pregnancies
with genetic disorders from the Gatot Soebroto Army Hospital. The results of
the study show that consent to termination of pregnancy with medical
indications by the patient and approved by the husband/family. Termination of
pregnancy in a fetus with a severe genetic disorder Trisomy 13 is a legal
abortion if it is carried out according to medical indications and
steps regulated in Health Law No. 36 of 2009 and Government Regulation No. 61
of 2014 concerning Reproductive Health. |
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KEYWORDS |
Trisomy 13, Medical Provocatus
Abortion, informed consent, legal certainty, legal protection. |
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This work is licensed under a Creative
Commons Attribution-ShareAlike 4.0 International |
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INTRODUCTION
In Indonesia, there is a lot of discussion around the
issue of abortion. According to data from the Indonesian Ministry of Health,
thousands of unintended pregnancies occur each year, whether as a result of
rape, wrongful affiliations that result in unmarried pregnancies, or failure of
contraception.
Because most abortions are performed by couples who
conceive outside of marriage, abortion is typically seen as a shame that needs
to be kept hidden. Abortion is frequently prompted by unwanted pregnancies.
Health professionals should pay extra attention to abortion since it is a risky
medical procedure and involves moral quandaries. According to Bearak
(2020) in 2015–19, there were 121.0 million unwanted
pregnancies each year. There are 64 unwanted pregnancies per 1000 women aged
15–49 years. 61% of unintended pregnancies end in abortion (a total of 73·3
million abortions each year) (Bearak et al., 2020).
From this number, it can also be calculated that three out of 10 pregnancies
end in abortion.
According to 2014 research that looked at statistics
on maternal mortality from the years 2003 to 2012, unsafe abortions were
responsible for 7.9% of maternal fatalities, or the equivalent of 193,000
pregnancies, with an estimated value range of 4.7% - 13.2% Maternal Mortality
Rate (MMR). Yet, data on the causes of MMR related to unsafe abortion can also
be considered to not accurately reflect the reality because issues go
unreported, specifically because abortion is still illegal under current legal
laws.
Although though abortion is legal in some situations
under state law, reporting an abortion is nonetheless difficult due to cultural
and religious stigmas. Bleeding, infection, sepsis, genital damage, and
necrotic bowel are the main factors that contribute to unsafe abortion
fatalities (Haddad & Nour, 2009).
In Indonesia, few
research have been able to document safe abortion practices; this is because of
legal restrictions that still categorically forbid all activity linked to
abortion. Only two studies have attempted to demonstrate the estimated 1000
abortions per year in Indonesia. Based on studies done in six Indonesian
provinces, it was estimated that in 2000, there were 37 abortions for every
1000 women between the ages of 15 and 49. The typical age of abortion-taking
women is between 20 and 29 (46%), and 66% are married (Jones et al., 2010). In
2018, there were 42.5 abortions per 1000 women aged 15 to 49 on the island of
Java, according to recent data conducted in Indonesia (Giorgio et al., 2020). This rate is higher than the global abortion rate,
which is 39/1000 women.
According to Law No. 36 of 2009 concerning Health,
women who have been raped are eligible for abortions if there are medical
reasons to do so. Pregnancies that endanger the fetus' life and health,
including those with severe genetic diseases that cannot be treated so that
they have a negative impact on the baby and make it impossible for it to live
for a very long time outside the womb, are medically indicated for medical
provocatus abortions. Also, taking into account the danger to the mother's life
if the pregnancy is continued.
Trisomy 13 is a serious genetic anomaly in the fetus
that is one of the causes of abortion as a result of the chromosomal
aneuploidy. Trisomy 13 first identified by Patau et al. in 1960 (Cammarata-Scalisi et al., 2019). Trisomy
13 affects roughly 1 in 10,000 to 20,000 live births, and more than 95% of
pregnancies end in prenatal death (Satgé et al., 2017).
Due to aspiration, faulty heart architecture, and
central shortness of breath, trisomy 13 congenital defects can cause infant
death. The first month's mortality rate is 50%, while the first year's rate is
90%. Due to the higher prevalence of preeclampsia and the
danger of maternal death associated with early birth, abnormalities in these
infants also have an impact on the mother's health (Chen, 2009).
In
the Criminal Code Bill it is explained that there are efforts to reform the law
related to the exception setting for the criminalization of abortion, the
formulation of Article 467 paragraph (2) becomes:
The provisions referred to in paragraph (1) do not
apply in if a woman is a victim of the crime of rape or other crimes of sexual
violence that causes pregnancy whose gestational age does not exceed 12
(twelve) weeks or has indications of a medical emergency.
There
is a medical emergency condition to save the mother's life in trisomy 13
pregnancy. Termination of pregnancy avoids the adverse effects that will be
experienced by babies with severe congenital abnormalities.
The problems in this paper are; (1) what are the
ethical problems found in pregnancies with a fetus diagnosed with a genetic
disorder due to trisomy 13? and (2) What is the procedure for implementing
medical abortion provocation that fulfills ethical aspects and complies with
applicable regulations
RESEARCH
METHOD
This research is included in the type of normative legal research,
accompanied by reports of cases of abortion. Research in the field of law is
based on applicable laws and regulations. This normative legal research focuses
on ethical and legal aspects of the implementation of provocative medical
abortion following statutory regulations.
This normative legal research starts with articles of positive law which
contain explanatory concepts regarding the limitations of the permissibility of
abortions that need to be carried out due to medical emergencies. Abortions
performed because there are severe abnormalities in the fetus still reap
various interpretations. Saving a mother's life is a priority considering that
a mother is a person who has existence and social values compared to a fetus
with severe birth defects. The implementation of safe, quality, and responsible
abortion by the Health Law in Indonesia requires commitment from various parties.
The data sources used in this paper are primary data from case reports of
fetal pregnancies with genetic disorders from the Gatot Soebroto Army Hospital
and secondary data obtained from the literature to seek, study and collect
information, concepts, theories, and related laws and regulations
RESULT
AND DISCUSSION
Ethical
issues in pregnancy with a fetus diagnosed with a genetic disorder due to
trisomy 13
What is Trisomy 13
Trisomy 13 is a chromosomal condition with a poor
prognosis that is marked by numerous severe congenital defects. Trisomy 13 is
also known as Patau Syndrome because it was initially identified as a syndrome
by Dr. Patau in 1960. After trisomy 21 (Down Syndrome) and trisomy 18, this is
the third most common trisomy instance (Edwards Syndrome). When compared to
other autosomal trisomies, trisomy 13 has the worst circumstances for
congenital anomalies, psychomotor delays, mental retardation, and life
expectancy (Fogu et al., 2008).
Median survival is only 7-10 days in patients who are born live, and 90% live
less than 1 year. The estimated mortality rate for trisomy 13 is about 50 times
higher than the general neonatal mortality rate (Williams & Brady, 2019).
Neonates with trisomy 13 are generally born with low
birth weight (LBW) accompanied by intrauterine growth retardation (IUGR), have
one umbilical artery, prolonged persistent fetal hemoglobin, microcephaly
(small head size), microphthalmia (small eye size), arrhinencephaly (without
some brain tissue and skull bones), cleft lip and palate, postaxial hexdactyly,
and severe cardiac and great vessel defects. In approximately 4/5 cases there
is a congenital abnormality of the kidney, muscle, and bone. Most of the
patients were blind and deaf, with epilepsy and severe developmental delays (Čulić et al., 2016). According to Jones (2006),
there are more than 100 abnormalities that can be found in patients with
trisomy 13 (Jones et al., 2010).
Antenatal Diagnosis of Trisomy 13
The initial evaluation of trisomy 13 begins with fetal
nuchal translucency (FNT) performed at 11-14 weeks of gestation. This
examination is to measure the ultrasound appearance of a collection of fluid
under the skin behind the neck of the fetus in the first trimester of
pregnancy. In fetuses with chromosomal abnormalities, heart defects, and many
genetic syndromes, the thickness of the FNT is increased. The size usually
appears to be greater than or equal to 3.5mm. Part of the first-trimester
screening also includes measurement of the free beta subunit or total human
chorionic gonadotropin (B-hCG) and pregnancy-associated plasma protein-A
(PAPP-A). During the first trimester, both biomarkers appear to decline (Alzahrani, 2023).
One way to assess the presence of genetic
abnormalities in the fetus is to perform a Non-Invasive Prenatal Test (NIPT)
using cell-free DNA in the mother's plasma to differentiate trisomy 18 and 21
from trisomy 13.
In a retrospective study
conducted by Papageorghiou (2006), it was found
that ultrasound findings in fetuses with trisomy 13 during the second trimester
generally are holoprosencephaly, which is an anomaly of the brain parenchymal
structure due to failure of complete separation of the forebrain at the stage
of brain development, small head size, facial abnormalities, heart and kidney
disorders, omphalocele (exit of the abdominal cavity organs), and polydactyly.
In the first trimester of pregnancies with trisomy 13, 3 major defects are
easily detected: holoprosencephaly, omphalocele, and/or megacystis (very large
bladder). These three clinical signs of congenital abnormalities are often
found in cases of trisomy 13 and 18 chromosome abnormalities, which are found
in approximately 60% of fetuses with omphalocele, in approximately 20% of
fetuses with megacystis, and approximately 30% of fetuses with
holoprosencephaly (Papageorghiou et al., 2006).
Risks for Mothers
Containing Babies with Trisomy 13
Women carrying
trisomy 13 fetuses tend to have an abnormal placenta and can experience
preeclampsia in the second and third trimesters. Preeclampsia is an increase in
blood pressure and excess protein in the urine that occurs after more than 20
weeks of gestation. If not treated immediately, preeclampsia can cause
complications that are dangerous for the mother and fetus. If this condition is
not treated immediately, it can develop into eclampsia which threatens the life
of pregnant women and the fetus. This is caused by an excess of circulating
proteins that dissolve in the circulation and are involved in the occurrence of
preeclampsia
(Jena et al., 2020).
This is caused by
the presence of genes that cause preeclampsia on chromosome 13, such as sFlt1,
COL4A2 and periostin. sFlt1 locks onto chromosome 13q12 and encodes a placental
completion-like FMS tyrosine kinase 1 (sFlt1), which binds to vascular
endothelial growth factor receptor 1 (VEGF) with high affinity. Excess
circulating circulating soluble proteins such as tyrosinase kinase 1 and
decreased circulating placental growth factor affect maternal circulating
angiogenic proteins, which may explain the increased incidence of preeclampsia
in trisomy 13 pregnancies. COL4A1 maps to 13q34 and encodes the α1 base chain
of type IV collagen. Abnormal expression of the collagen IV gene can result in
ineffective basement membrane remodeling and subsequent shallow trophoblastic
infiltration. Periostin or OSF2 maps to chromosome 13q13.3 and encodes
periostin or osteoblast-specific factor 2 (OSF2), which plays a role in the
adhesion process. Release of adhesion molecules from the placenta can interfere
with adhesion interactions between cells and regulate the activation of
leukocytes and endothelial cells, there by stimulating inflammation (Bianchi et al., 2010).
Case Report of
Pregnancy with Trisomy 13 fetus
Mrs. LD (33 years)
pregnant with G2P1A0 (second pregnancy and never had an abortion), made her
first antenatal visit on December 4 2022 at Brawijaya Hospital Jakarta with a
gestational age of 4 weeks 5 days. The second antenatal visit was carried out
on 17 December 2022 at the Brawijaya Saharjo Hospital with a gestational age of
7 weeks and 2 days, the ultrasound results showed a fetal heart rate. On
January 14, 2023, at 10 weeks and 2 days of gestation, the patient's mother was
advised to perform NIPT. NIPT examination results show High Risk results on
chromosome 13 or trisomy 13.
The patient was
referred to the Gatot Soebroto Army Hospital, from the ultrasound results at 13
weeks 2 days of gestation, several abnormalities were found in the fetus,
including clubfeet (abnormalities of legs twisted out of shape or position),
omphalocele, nasal bone hypoplasia (nasal bones that do not develop), and
hygroma colli (an abnormal growth on the neck). With the results of these
supporting examinations, the fetus Ny. LD was diagnosed as trisomy 13 with
multiple congenital abnormalities.
On the basis of
poor prognosis considerations, a meeting was held by the Gatot Soebroto Army
Hospital Medical Committee. The meeting was aimed at considering the
feasibility of terminating the pregnancy in this patient. Families are given
the option to terminate the pregnancy or continue the pregnancy with the risk
that the baby will be born with severe defects and it will be difficult for the
baby to survive in the long term. In addition, there is a possibility of
preeclampsia which can threaten the mother's life if the pregnancy is
maintained. After receiving this information, the family gave consent to
terminate the pregnancy. Before termination of pregnancy counseling is carried
out to patients who can be well received. Then a recommendation was issued from
the Head of RSPAD Gatot Soebroto to carry out medical abortion provocation at
14 weeks of gestation which was carried out by a Fetomaternal subspecialty
Obstetrics and Gynecology Specialist doctor accompanied by a Pediatrician on 6
February 2023.
From a 3-dimensional ultrasound
examination at 13 weeks 2 days of pregnancy, the following picture is obtained:
B A
C D
Figure 1. Ultrasound image showing
congenital abnormalities A: Nasal bone hypoplasia, B: Hygroma colli (abnormal
growth on the back of the neck), C: Omphalocele (discharge of abdominal
contents), D: clubfeet (twisted leg)
Figure 2. After induction of labor, a
fetus with a Trisomy 13 abnormality can be delivered intact (in toto)
B A
D C
Figure 3 After the fetus is born, congenital abnormalities are obvious:
A: abnormal fetal body shape, B: facial deformity, C: omphalocele, D: hygroma
colli
Procedures for Implementing Medical Provocatus Abortion that Meets
Ethical Aspects and Complies with Applicable Regulations
Abortion or
Abortus provocatus comes from the Latin which means miscarriage on purpose.
Abortus provocatus is one of the various types of abortion. If traced in the
English-Indonesian dictionary, the word abortion does indeed mean abortion. In
contrast to criminal abortion, namely abortion done deliberately for a reason
and against the law. Abortus provocatus is a term in Latin that is officially
used in the medical and legal professions. This means deliberately ending the
life of the womb in the womb of a mother or pregnant woman (Seran & Setyowati, 2010).
Spontaneous
abortion or miscarriage can be caused by several things, such as growth
abnormalities resulting from fertilization, chromosomal abnormalities, the
environment, poor content, abnormalities in the placenta, maternal diseases in
the form of chronic diseases and reproductive tract disorders. Abortion is a
term that is applied to all pregnancies that are terminated before the fetus is
able to live outside the uterus, namely before the fetus's weight reaches 500
grams. If the weight is not known, then the gestational age can be measured,
namely less than 20 weeks (139 days, counting from the first day of the last
normal menstrual period) (DeCherney et al., 2019).
Analysis of
Abortion in an Ethical and Legal Perspective in the Case of Trisomy 13 Fetuses
According to Bertens, there are views of pro life and
pro choice. This difference in views has led to the emergence of two schools of
thought that debate the issue of abortion. A pregnant woman can emphasize the
right of the fetus to live. For them, abortion is the same as murder, while the
pro-choice movement puts forward the choice of whether the mother will continue
her pregnancy or end it with an abortion. That is, a pregnant woman has the
right to her own body, so she has the right to choose between the two
possibilities, while other people in this matter cannot interfere (Bertens, 2007).
Provisions regarding abortion in medical ethics are
stated in:
1) Indonesian doctor's oath: I will respect every
human life from conception.
2) Article 10 KODEKI: Doctors must remember their
obligation to protect the life of every human being.
According to this article, all actions and actions of
doctors are aimed at maintaining the patient's health, therefore human life
must be maintained with all the might. But sometimes doctors have to sacrifice
one life to save another life that is more important. In the case of medical
abortion provocatus (therapeutic abortion) the mother's health is sometimes a
priority because of the large role of the mother in the family.
For legal reform, the Government and the DPR
strengthen the regulation that the permissibility of abortions for victims of
sexual violence can be up to 28 weeks or returned to 16 weeks to provide
greater opportunities to build a health system that provides safe abortions.
With the promulgation of Law no. 36 of 2009 concerning
Health on October 13, 2009, then Law no. 23 of 1992 concerning Health was
declared no longer valid based on the Closing Provisions of Article 204 of the
new Health Law. Legal arrangements regarding abortion in this Law are contained
in Article 75, Article 76, Article 77 and Article 194.
Further provisions regarding indications of medical
emergencies and rape, as referred to in paragraph (2) and paragraph (3) are
regulated by the Government Regulation of the Republic of Indonesia No. 61 of
2014 concerning Reproductive Health.
According to Patrick (2005),
there are at least 3 options that can be offered to parents with trisomy 13
pregnancies. The first option is to have an immediate abortion. Second, is
early induction of labor for termination of pregnancy. While the third option
is to continue the high-risk pregnancy (Guinan, 2005).
In Indonesia, the choice to have an abortion in cases
of trisomy 13 is a legal action because it fulfills medical emergency
indications when referring to Health Law No. 36 of 2009:
CONCLUSION
Provocatus abortion remains a controversial issue. On the
one hand, they allow it for reasons that prioritize the mother's rights, while
the other group believes that the child's right to life is the main thing. The
legitimacy of provocative abortion in a country is very dependent on the laws
in force in that country. In Indonesia, the Criminal Code states that abortion
provocatus is a crime. The Criminal Code Bill has opened opportunities for
medical indications and rape victims.
Termination of pregnancy in a fetus with Trisomy 13 is included
in medical abortion provocatus which is carried out based on medical
indications. This medical indication is based on the existence of a threat to
the mother's life if the pregnancy is continued and also the condition of the
fetus that cannot live long outside the womb with severe genetic disorders.
The conclusions that can be drawn based on the
explanation above are consent to termination of pregnancy with medical
indications must be decided by the patient and approved by the husband/family.
The purpose of this action is to prioritize patient safety in a safe, quality
and responsible manner.
Termination of pregnancy in a fetus with a severe genetic
disorder Trisomy 13 is a legal abortion if it is carried out according to
medical indications and steps regulated in Health Law No. 36 of 2009 and
Government Regulation No. 61 of 2014 concerning Reproductive Health. Doctors
and medical personnel who perform legal abortions must complete the
requirements and comply with regulations in order to avoid legal sanctions.
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