While prenatal testing can provide information on fetal diseases such as Down syndrome (trisomy 21) prior to delivery, ethical issues such as whether it can be used as a basis for abortion decisions have been under debate. In this article, our doctors explain the ethical issues, laws, and abortion decision-making regarding prenatal testing.
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What is Prenatal Testing?
Prenatal testing is a test to determine whether the baby in your belly has a congenital disease. Prenatal testing can be done in the following ways:
- Maternal Serum Marker Test
- NIPT (New Non-invasive Prenatal Testing)
- Fetal Dock (First Trimester Screening）
- Amniotic Fluid Test
- Chorionic Villus Testing
Maternal serum marker tests, NIPT, and fetal dock tests are tests that are less invasive (damaging) to the fetus but at the same time check for the presence of positive risks. They are called ‘non-definitive tests’ or ‘screening tests’ because they do not provide a definitive diagnosis.
Amniotic fluid and chorionic villus tests are called ‘definitive tests’ because they provide definitive results for chromosomal abnormalities, although there are concerns about potential damage to the fetus due to the need to puncture the uterus.
The benefits of prenatal testing are that the baby’s health status is known in advance, making it easier to prepare for the birth and to anticipate future life and conditions.
Illnesses that can be detected by Prenatal Testing
The following congenital diseases are among those that can be detected by prenatal testing:
- Morphological abnormalities such as malformations and deformities
- Down Syndrome (Trisomy 21)
- Edwards Syndrome (Trisomy 18)
- Patau Syndrome (Trisomy 13)
- Turner Syndrome
- Triple X Syndrome
- Klinefelter Syndrome
- Creutzfeldt‐Jakob Syndrome, etc.
Morphological abnormalities such as deformities and deformities are basically treated by evaluating the child’s health status, growth process, and other conditions, and then surgically treating the affected area.
On the other hand, chromosomal abnormalities such as Down syndrome (Trisomy 21) and Edwards syndrome (Trisomy 18) cannot be treated by surgery or medication.
Among these, Down syndrome (Trisomy 21) is said to be the most common case. According to the Ministry of Health, Labor and Welfare, an estimated 2,200 babies with Down syndrome(Trisomy 21) are born each year, and the older a mother’s ager at birth, the higher the percentage of babies born with chromosomal abnormalities.
What is a Chromosomal Abnormality?
Humans have 22 pairs of autosomes and one pair of sex chromosomes, for a total of 46 chromosomes. When two chromosomes, one from each parent, are missing, it is called a chromosome abnormality, and the genetic information differing from the original can cause physical and developmental problems in the fetus.
What is Down Syndrome?
Down syndrome is one of the most common congenital chromosomal abnormalities.
Down syndrome is known as ‘Trisomy 21’, which has three autosome 21. Among the several types of chromosomal abnormalities, Down syndrome is the most common. According to the Ministry of Health, Labor and Welfare, the rate is approximately 1 in 1,000 babies when the mother is in her early 20s, and 1 in 100 babies when the mother is in her 40s or older are born with Down Syndrome. Of course, these are only statistics, but it can be said that older pregnancies and births increase the risk of miscarriage and fetal chromosomal abnormalities.
Major Characteristics of Down Syndrome
Humans are born with a total of 23 pairs of two chromosomes. Down syndrome is a disease in which a child is born with one extra chromosome 21. It is also called ‘Trisomy 21’ because the child is born with three chromosomes instead of the usual two.
The characteristics of a child with Down syndrome (Trisomy 21) are as follows:
- Small head
- Low nose and flat face
- Suspended eyes and small ears
- Weak facial muscles, so their mouths are often open
- Short stature
- Tendency to be obese
- Often suffer from complications such as heart disease
- IQ is often lower than average
- Lack of attention and hyperactivity are often observed
- Autistic symptoms such as difficulty with interpersonal relationships and obsessive-compulsive tend to occur.
A fetus with Down syndrome (Trisomy 21) shows features such as thickening of the back of the neck and slow formation of the nasal bones from the time it is in the belly.
NIPT (New Non-invasive Prenatal Testing), a non-definitive test that requires only a blood sample from the mother, is considered highly accurate with a sensitivity and specificity of 99.9% for Down Syndrome (Trisomy 21).
Symptoms of Down Syndrome
Symptoms of Down syndrome vary widely, but the most prominent of these is considered to be ‘Developmental Disability’. Although it varies according to the degree of Down Syndrome symptoms, in general, inadequate external stimulation such as playing outside and communication during childhood, or the child’s own lack of interest, often results in delays in muscle and language development. As a result, children with Down syndrome may have difficulty with speech and expression during the growth process, and their growth is slower than that of normal children.
Meanwhile, there are no common personality traits associated with Down syndrome. Learning ability and socially adaptive functions vary greatly from person to person, and some people are able to graduate from college, get married, drive a car, and work without problems. In addition, there are many cases where developmental disabilities are accepted as part of the individual’s personality due to the understanding of family members and others around them.
Common Complications of Down Syndrome
Down syndrome is a disease with a high rate of congenital complications. The most common of these are heart defects such as ventricular septal defects, endocardial defects, and patent ductus arteriosus. Esophageal and intestinal abnormalities are also common, including esophageal atresia, cloacal anus, and duodenal atresia. Duodenal atresia has a high probability of occurring as a complication of Down syndrome and is estimated to occur in about 30-40% of cases.
Abortion and Prenatal Testing in Japan
The main purpose of prenatal testing is to maintain the health of the mother during pregnancy and childbirth, and to plan and anticipate the future of child rearing after birth. If the result of a prenatal test is positive, and if it is a non-definitive test such as NIPT, the patient is often recommended to undergo a definitive test, and a decision is made as to whether or not to continue with the pregnancy.
The abortion rate is approximately 90% for those who receive a positive result after a definitive test. The reasons for this include physical or financial difficulty in giving birth and raising a child, which is a major problem that cannot be addressed simply by words such as ‘pro-life’ or ‘ethics’.
What is Abortion?
Abortion is formally called ‘induced abortion’, and refers to the removal of a fetus from the mother’s body artificially at a time when the fetus cannot sustain life outside the mother’s body. The cost of abortion for your own reasons is not covered by insurance. The cost of the procedure varies depending on the number of weeks of pregnancy, so please confirm the cost with the medical institution performing the abortion procedure in advance.
Please note that the abortion procedure is possible no later than 22 weeks of pregnancy.
If the pregnancy is less than 12 weeks, a ‘curettage’ or ‘suction’ is performed to remove the interior of the uterus with an instrument.
If the pregnancy is less than 12 to 22 weeks, the abortion is performed by artificially inducing labor and miscarriage. In addition, if the abortion procedure is performed after 12 weeks of pregnancy, the fetus must be reported stillborn and a burial permit must be obtained.
What is an Oral Abortion Pill?
Oral abortion pills are drugs that suppress the secretion of hormones necessary for fetal growth and cause the uterus to contract, artificially inducing labor pains and expelling the fetus. Although it is a common abortion method in other countries, as of September 2022, it is unapproved in Japan*, and many people confuse it with emergency contraceptives.
※Application for approval by the Ministry of Health, Labour and Welfare in 2021.
Oral abortion pills must be taken at the prescribed time under the supervision of a doctor in order to avoid serious side effects. In addition, if an abortion is performed by taking oral abortion pills purchased through a private import website, it is punishable by up to one year in prison under Article 212 of the Penal Code for the crime of self-induced abortion.
It is against the law to purchase oral abortion pills, which are currently unapproved by the Ministry of Health, Labor and Welfare. It is also very dangerous to take the pills on your own judgment.
Laws on Abortion
The crimes related to abortion are defined in Articles 212-216 of the Penal Code, depending on the nature of the abortion. The conditions under which an abortion can be performed are defined by the Maternal Protection Law.
Maternal Protection Law (1948)
In Japan, the conditions under which a woman can have an abortion are defined by the ‘Maternal Protection Law’. The purpose of this law is to protect the life and health of the mother.
According to Article 14 of the Maternal Protection Law, an abortion procedure may be performed under the following conditions:
If the conditions are met, only a physician designated by the medical association can perform the abortion procedure with the consent of the patient and their spouse.
Note that if the spouse is not known or if the spouse’s intention cannot be confirmed, the consent of the spouse is not required.
Any abortion that does not meet the following conditions will be charged with abortion according to the Penal Code:
Maternal Protection Law Article 14
Section 1. A physician designated by a medical association established as a public interest incorporated association with the prefectural area as its unit (hereinafter referred to as a ‘designated physician’) may perform an abortion with the consent of the individual and her spouse.
(i) Continuation of pregnancy or delivery is likely to seriously harm the mother’s health for physical or financial reasons.
(ii) Those who have become pregnant as the result of adultery through assault or threats or while unable to resist or refuse.
The consent set forth in the preceding paragraph shall be sufficient only if the spouse is unknown or unable to manifest his/her intention, or if the spouse ceases to exist after the pregnancy.
Source: Ministry of Health, Labour and Welfare – Maternal Protection Law (Law No. 156 of July 13, 1948)
Article 212 of the Penal Code: Offense of Self-abortion
(2) If a pregnant woman commits abortion by using drugs or by any other means, she shall be punished with penal servitude for a term not exceeding one year.
Article 213 of the Penal Code: Offense of Consent to Abortion
A person who causes a pregnant girl to abort at her commission or with her consent shall be punished with penal servitude for a term not exceeding two years. Thus, a person who causes the death or injury of a girl shall be punished with imprisonment for not less than three months and not more than five years.
Article 214 of the Penal Code: Abortion through Professional Conduct; (Causing Death or Injury)
(2) A physician, midwife, pharmacist, or drug distributor who causes a woman to have an abortion at her request or with her consent shall be punished with imprisonment for not less than three months and not more than five years. Thus, if a woman is killed or injured, the offender shall be punished with penal servitude for a term of not less than six months and not more than seven years.
Article 215 of the Penal Code: Abortion Without Consent
(2) Any person who causes an abortion without obtaining the commission of a woman or her consent shall be punished by imprisonment with hard labor for a term of not less than six months and not more than seven years.
Article 216 of the Penal Code: Abortion Without Consent Causing Death or Injury
A person who commits the crime mentioned in the preceding article (Article 215) and thereby causes the death or injury of a woman shall be punished by a heavier sentence than for the crime of injury.
Reference: e-Gov Law Search – Criminal Law (PENAL CODE (Act No. 45 of 1907)
Abortion is available up to 21 weeks and 6 days. There are two types of abortions, early-term and mid-term, and the surgical procedure, costs, and risks to the mother vary depending on when the abortion is performed.
Early abortions are performed between 6 and 11 weeks and 6 days of pregnancy, while mid-term abortions are performed between 12 and 21 weeks and 6 days of pregnancy. Early-term abortions usually take about 10 minutes, and the patient can go home the same day as soon as the operation is over, without hospitalization. A mid-term abortion differs from an early abortion in that the procedure is similar to an actual birth by inducing labor pains.
The NIPT (New Non-invasive Prenatal Testing)test is not a definitive test, so if the test result is positive, the patient will have to undergo a definitive test such as an amniotic fluid test. Therefore, if you choose to have an abortion, you need to make a decision right away.
Ethical Issues in Prenatal Testing
Abortion based on the results of prenatal testing is permitted under the terms of the Maternal Protection Act. On the other hand, prenatal diagnosis often raises ethical issues and opinions.
The presence or absence of fetal congenital diseases, as determined by prenatal testing, is likely to be a factor in abortion decisions, and it is true that some people have asked whether the presence or absence of a congenital disease is a factor in determining preference for life.
Another problem is the lack of support systems at medical institutions after the discovery of a congenital disease. Many medical institutions do not have physicians or staff familiar with congenital diseases caused by chromosomal abnormalities, even though they offer prenatal testing.
Prenatal testing respects the ‘right to know’ of pregnant women and their families to have a healthier pregnancy and future. The challenge for healthcare providers is to provide detailed explanations of the test and a support system that accompanies them in their choice.
The Number of Induced Abortions Has Been Decreasing
Year by Year
Reference: Ministry of Health, Labour and Welfare – 令和2年度の人工妊娠中絶数の状況について
As reported by the Ministry of Health, Labor and Welfare, the number of abortions is decreasing every year. On the other hand, the most frequently cited reason for abortion is ‘financial difficulty in giving birth’, and this is the same reason given by the majority of the respondents whose prenatal tests come back positive.
What to Check Before Undergoing Prenatal Testing
Prenatal testing is a test that allows the doctor to know if the fetus has a congenital disease before delivery. On the other hand, if a baby is diagnosed with a congenital disease, a choice must be made between continuing the pregnancy or having an abortion. Since this is a very sensitive issue for pregnant women, it is important to confirm the following when considering prenatal testing:
Availability of Support After Prenatal Testing
There are many medical institutions that only perform prenatal testing and provide only the results without a detailed explanation of the chromosomal abnormality. However, it is natural that you would want a detailed explanation of the test results, and if non-definitive tests such as NIPT (New Non-invasive Prenatal Testing) detect a risk of a positive result, you should consider whether to proceed to a definitive test (amniotic fluid test).
For these reasons, it is important to research prenatal testing institutions in advance of considering a prenatal test. It is a good idea to check for a doctor who can provide a detailed explanation of chromosomal abnormalities, a certified genetic counselor, and a support system after prenatal testing, such as transitioning to a definitive test.
Hiro Clinic NIPT is staffed by a specialist from the Japan Society of Obstetrics and Gynecology, a prenatal consultant pediatrician, and a clinical genetic specialist. Please refer to After-test ‘Counseling with a Genetic Counselor‘ for more information about the cost.
What Social Support is Provided after Childbirth
If a prenatal test is positive for a congenital disorder in a baby, the most worrisome thing may be the cost of treatment and care after the birth of the child. In Japan, various welfare services are provided for children with disabilities. These include the ‘Special Child Support Allowance’, which provides monthly subsidies depending on the degree of disability, and the ‘Rehabilitation Certificate’, which allows priority admission to nursery schools. Welfare services provided by each municipality vary. For details, please contact your local government directly.
Support System by Hiro Clinic NIPT
Prenatal testing is a test that can detect congenital diseases caused by chromosomal abnormalities in the fetus prior to delivery.
While it allows for proper preparation and prediction of the future before birth, many have voiced their concerns that prenatal diagnosis may lead to the selective selection of life and eugenic ideology. However, there are many people who choose abortion out of necessity due to family circumstances and other reasons.
NIPT (New Non-invasive Prenatal Testing)can be performed with only a blood sample from the mother. Therefore, many medical institutions are currently performing the test, but not all doctors are familiar with NIPT. Therefore, there may be some medical institutions that provide only blood sampling and test results without detailed explanations and support system.
Hiro Clinic NIPT is a nationwide clinic specializing in NIPT (New Non-invasive Prenatal Testing), and is staffed by specialists in NIPT from the Japan Society of Obstetrics and Gynecology, a prenatal consultant pediatrician, and a clinical genetic specialist, so we provide detailed counseling on chromosomal abnormalities and provide support for the transition to amniotic fluid testing. Our goal is to help you have a healthy pregnancy and delivery. Please contact Hiro Clinic NIPT for any questions you may have.
Summary
The pros and cons of prenatal testing, including NIPT (New Non-invasive Prenatal Testing), will continue to require careful debate in light of older age pregnancies and declining birthrates. However, pregnancy and childbirth are issues that directly affect the life and health of the mother and her future. It is important to carefully discuss the issue with your partner to find the best answer before listening to media information or biased opinions.
【References】
- National Center for Child Health and Development – 日本のダウン症候群出生数は、ほぼ横ばいと推定される
- Japan Society of Obstetricians and Gynecologists – 人工妊娠中絶について教えてください。
- Japan Society of Obstetricians and Gynecologists – 人工妊娠中絶ができる条件とは何ですか？
- Digital Sixth Amendment – 第二十九章 堕胎の罪
Q&A
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QWhat is prenatal diagnosis by NIPT?NIPT is a test that analyzes DNA from the mother's blood to non-invasively detect chromosomal abnormalities in the fetus. It can detect chromosomal abnormalities such as Down syndrome (21 trisomy) with high accuracy and can be performed early in pregnancy.
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QWhat percentage of women in their late 20s undergo NIPT (new prenatal diagnosis)?Although it varies by region and health care provider, the risks of older childbearing are widely recognized, and more young adults are undergoing informed testing. women in their late 20s are often considered based on their perception of the risks associated with childbearing and their plans for the future.
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QWhat are the advantages of having NIPT (new prenatal diagnosis) in my late 20s?Early knowledge of the health of the fetus allows for appropriate medical intervention, and early preparation and necessary support can be put in place.
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QAre there any risks related to older childbearing even if I am in my late 20s?The risks are generally lower for pregnancies in the late 20s than for older births that occur at age 35 or older. However, individual health, lifestyle, and family history may increase certain risks, so it is important to have regular antenatal checkups and receive appropriate medical care, including prenatal checkups if necessary.
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QIs it possible that the nipt positive result is incorrect?Although nipt is a highly accurate test, false positive or false negative results may occur in rare cases. If a positive result is obtained, it is important to make a definitive diagnosis to accurately confirm the presence or absence of chromosomal abnormalities.
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QIs there any support if I get a positive result for the new prenatal diagnosis?In the event of a positive result in the new prenatal diagnosis, we will support the cost of amniotic fluid testing.
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QWhat is the abortion rate for a positive prenatal diagnosis result?The abortion rate for a positive prenatal diagnosis result is approximately 90%. Reasons for abortion often include physical and economic difficulties in giving birth and raising a child.
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QCan a positive NIPT result turn negative?If the NIPT result is positive, a confirmed diagnosis may rarely prove negative. This is because although NIPT is highly accurate, it is not a definitive diagnosis. It is important to confirm the accurate result with a definitive diagnosis.
While prenatal testing can provide information on fetal diseases such as Down syndrome (trisomy 21) prior to delivery, ethical issues such as whether it can be used as a basis for abortion decisions have been under debate. In this article, our doctors explain the ethical issues, laws, and abortion decision-making regarding prenatal testing.
Read more about Amniotic Fluid Testing
Article Editorial Supervisor
Dr Hiroshi Oka
NIPT specialist clinic, MD
Graduated from Keio University, School of Medicine
