Have you heard of NIPT (New Non-invasive Prenatal Test)?
Congratulations on your pregnancy.
You must be happy to have a new life in your womb. You may be wondering if it is a girl or a boy, and which of the parents the baby will resemble. You are probably thinking about your child, whom you have not yet seen, and his or her future, but at the same time you are probably worrying about the baby’s health.
With the development of science and technology, the accuracy of genetic testing has improved dramatically. This has made it possible to detect chromosomal abnormalities in the fetus, such as Down’s syndrome (Trisomy 21), as a prenatal diagnosis in the early stages of pregnancy. Tests such as amniotic fluid and chorionic villus tests, which are considered to cause very little direct invasion (damage) to the mother and fetus like traditional prenatal diagnosis, are called non-invasive prenatal genetic testing, also known as non-invasive prenatal screening (NIPS) and prenatal genetic testing. In other countries, non-invasive prenatal genetic testing is included as a part of the testing menu and is commonly performed as a prenatal diagnosis unless the pregnant woman refuses to undergo it.
HIRO CLINIC NIPT is a laboratory clinic that can diagnose the possibility of congenital diseases caused by chromosomal abnormalities in the fetus through NIPT (New Non-invasive Prenatal Testing).
NIPT (New Non-invasive Prenatal Testing) is a non-conclusive prenatal test ※1 that can examine chromosomal abnormalities such as Down syndrome (Trisomy 21), Edwards syndrome (Trisomy 18), and Patau syndrome (Trisomy 13) of the fetus by estimating the amount of DNA of the fetus in blood samples taken from the mother.
The test can be performed by drawing only 10 ml (about 2 teaspoons) of the mother’s blood, so there is no direct invasion (damage) to the fetus. Since there is no need to penetrate the body of the mother, the risk of miscarriage is very low compared to amniotic fluid testing or chorionic villus examinations.
In the United States, NIPT (New Non-invasive Prenatal Testing) is performed unless the patient refuses to undergo the test. In Japan, the number of pregnant women who voluntarily undergo NIPT (New Non-invasive Prenatal Testing) has been increasing every year. The NIPT (New Non-invasive Prenatal Testing) test is more accurate than the conventional prenatal diagnosis using maternal blood, with reported sensitivity and specificity of 99.9%, but it is still a non-conclusive test. If the result of NIPT (New Non-invasive Prenatal Testing) is positive, many pregnant women voluntarily undergo a definitive test ※2.
※1 Non-conclusive tests are tests performed to evaluate the possibility of chromosomal abnormalities in the fetus. Ultrasound examination (echography), maternal serum marker test (triple marker quattro test) NIPT (New Non-invasive Prenatal Testing) are considered non-conclusive tests.
※2 A definitive test is a diagnostic test that confirms the presence or absence of a disease; an amniotic fluid test, which can be performed after 15 weeks, and a chorionic villus test, which is performed between 11 and 14 weeks, are called definitive tests. Since a needle is inserted into the abdomen to directly collect amniotic fluid and chorionic villi, there is risk of miscarriage associated with the test.
The visit for NIPT (New Non-invasive Prenatal Testing) is only one time on the day of the test when blood samples are taken. If you would like to hear more details about the results, our doctors will be happy to explain the results to you.
NIPT (New Non-invasive Prenatal Testing) is available from 10 weeks and 0 days of pregnancy. You may schedule an appointment as soon as you know your due date. There is no time limit for the NIPT (New Non-invasive Prenatal Testing) test. However, in the unlikely event of a positive result and a definitive test, Hiro Clinic NIPT recommends testing before the 15th week, as amniotic fluid testing is performed between 15 and 18 weeks. At Hiro Clinic NIPT, we usually send the results within 1 to 3 days after receiving the specimen. However, as mentioned above, if you are considering a definitive test, it is important to calculate the number of weeks of pregnancy and undergo NIPT (New Non-invasive Prenatal Testing) well in advance.
Hiro Clinic NIPT does not require a letter of referral from your family doctor. You can make reservations from your iPhone or smartphone or from your computer as well. Please feel free to make a reservation using our web reservation form, which is available 24 hours a day. ※Please bring your mother-child handbook.
NIPT (New Non-invasive Prenatal Testing) can be done at what week of pregnancy？
NIPT (New Non-invasive Prenatal Testing) is performed after 10 weeks and 0 days of pregnancy. During the 10th week of pregnancy, the fetal brain, heart, liver, and other major organs are being formed, and fetal DNA is increasing in the mother’s blood.
NIPT (New Non-invasive Prenatal Testing) Over 25,000 completed cases If you have any concerns,
please feel free to contact us.
Main features of NIPT (New Non-invasive Prenatal Testing)
No significant risk of direct invasion (damage) to the fetus
In the definitive examination, there is a considerable risk of invasion of the fetus, such as amniotic fluid sampling by maternal puncture and miscarraige due to transvaginal chorionic villus sampling.It is said that there is a possibility of miscarriage of 1/300 in amniotic fluid test and 1/100 chorionic villus testing.
Since NIPT (New Non-invasive Prenatal Testing) can be tested only by collecting blood sample from the mother, it is an excellent non-deterministic test because there is no direct invasion (damage) to the fetus.
Testing is available from the 10th week of the pregnancy cycle.
Traditional nonconclusive tests (maternal serum markers and combined tests) could not be performed until after 11 weeks of pregnancy at the earliest.
NIPT (New Non-invasive Prenatal Testing) is available from the 10th week of pregnancy, so you can learn about your baby’s health early.
There are two criteria for measuring the accuracy of a chromosome test. One is sensitivity, which indicates the probability of being positive and being positive after birth. The other is “specificity,” which indicates the probability of being negative and remaining negative after birth.
NIPT (New Non-invasive Prenatal Testing) has a high accuracy of 99.9% in both sensitivity and specificity in the examination of chromosome 21 (down syndrome), and can detect the number of abnormal chromosomes in babies more accurately.
There is no special age limit for NIPT (New Non-invasive Prenatal Testing) at Hiro Clinic NIPT. There are also no restrictions, such as the fact that a pregnant wife must be accompanied by their husbands to undergo the test.
It is known that as a pregnant woman is older, the probability of developing Down Syndrome increases. The incidence is said to be as high as 1 in 1,000 for a 30-year-old pregnant woman.
Human chromosomes, which are contained in the cell nucleus, normally have 23 pairs of chromosomes in two pairs. Down syndrome is a disorder caused by the loss of three of these 21st chromosomes because the 21st chromosome contains fewer genes than the other chromosomes. The probability of being born with Down syndrome is said to be higher than with other diseases.
Is it advisable to test for Down’s Syndrome, which can cause miscarriages?
You are right, the probability of miscarriage is high and we often have to let them go while they are still in the womb, but it may help to know so that we can prepare ourselves.
Is there a case where it is only discovered at the age of two?
There are some instances in which this is the case. Sometimes the swelling in the back of the neck is detected during an ultrasound examination, but often it is discovered after the baby is born.
Why is a child with Down syndrome called an angel child?
This is because it is said that children with Down syndrome are often very cheerful and friendly.
I have a relative with Down syndrome. Do I still have a higher chance of conceiving a child with Down syndrome than the rest of the general population?
There is a higher chance. This is due to the presence of Down syndrome with translocations. Also, if one of the parents has a chromosomal abnormality, the child will develop Down syndrome at a much higher frequency than normal.
As mentioned earlier, Down syndrome is a disorder with one more chromosome 21, called Trisomy 21. Diseases with a higher number of chromosomes are called trisomies, and other examples include Edwards syndrome with Trisomy 18 and Patau syndrome with Trisomy 13.
Why don’t you start by knowing what New Non-invasive Prenatal Testing (NIPT) is?
NIPT (New Non-invasive Prenatal Testing) Over 25,000 completed cases If you have any concerns,
please feel free to contact us.
Vanishing twins is a phenomenon that occurs in early pregnancy, when the fetus disappears from the womb. The name “vanishing twin” comes from the idea that one half of a deceased twin (twin) appears to have vanished before long.
It is one of the symptoms that appears to have disappeared when a fetus during multiple pregnancies dies in the womb and the deceased fetus stays in the womb and is absorbed.
Vanishing twins are said to occur in more than 30% of twin pregnancies. Although medical developments have gradually clarified this phenomenon, there are still many unknowns.
Vanishing twins are more likely to occur in monochorionic twins than in bichorionic twins, which are more common in monozygotic twins.
Bichorionic twins refers to a situation in which each twin fetus has one placenta, for a total of two placentas. On the other hand, monochorionic twins refers to a situation where two twins share one placenta.
●Twin-to-twin death syndrome, intrauterine fetal death, twin-to-twin death, twin-to-twin reabsorption
Two fertilized eggs that were fraternal twins may fuse into a single fertilized egg, in which case, one individual will have two different sets of genetic information. In most cases, the fertilized eggs do not grow to the point of birth, but in rare cases, an individual may be born as a chimera with two different sets of genetic information.
When identical twins fuse, they are not chimaeras because they have the same genes. There are also cases where one half of a twin embryo that died as a vanishing twin fuses with the remaining embryo that did not disappear and is born as a chimera. In particular, when embryos that were intended to be born as opposite-sex twins are fused, hermaphrodites with male and female reproductive organs in one individual or hemihybrids with ambiguous male and female reproductive organs may be born.
The occurrence of such a chimera phenomenon is almost unheard of, and the probability is said to be less than 1 in 100,000.
Normal human chromosomes have two identical chromosomes with the same number. However, when several chromosomes that should have two chromosomes each are mutated (increased or decreased), such as one or three chromosomes, this is called aneuploidy.
If the effects of aneuploidy are significant, the baby is often Stillbirth before birth, but even if it is not fatal, some abnormality can occur. For example, Down’s syndrome, a congenital disorder, is a disorder of chromosomal abnormalities caused by the presence of three chromosomes 21*.
Trisomy is a trisomy syndrome, in which there are usually 23 types of chromosomes, each with two chromosomes. Trisomy is a chromosomal abnormality in which one of the 46 chromosomes is overrepresented, resulting in the presence of 47 chromosomes. Chromosomes include autosomes, which contain genetic information that forms the body, and sex chromosomes, which determine gender. Depending on which of the two chromosomes is more numerous, the term “autosomal trisomy” or “sex chromosome trisomy” is used.
Autosomal trisomies include Down syndrome with chromosome Trisomy 21, Edwards syndrome with chromosome 18 trisomy, and Patau syndrome with chromosome 13 trisomy. Most cases of chromosomal abnormalities result in miscarriage, but in mosaic cases, births have been reported with all chromosomes.
Pregnancy causes symptoms similar to premenstrual symptoms, such as drowsiness, fatigue, and breast tenderness. For this reason, many people do not realize they are pregnant even though they are aware of the symptoms and feel that it is a sign of menstruation or premenstrual period. It is difficult to determine whether or not physical changes alone are a sign of pregnancy, but by measuring your basal body temperature on a regular basis, you can be sure to notice any changes. If you think you may be pregnant, first check with an over-the-counter pregnancy test. If it is positive, go to a hospital for a pregnancy test.
Hiro Clinic NIPT (New Non-invasive Prenatal Testing) can be performed after 10 weeks of pregnancy, regardless of the age of the expectant mother. The test is performed only by drawing blood from the mother, and there is no direct invasion (damage) to the fetus.
Although it varies from person to person, morning sickness is said to peak around the 10th to 12th week of pregnancy.
If you have made an appointment for NIPT (New Non-invasive Prenatal Testing) but are not feeling well on the day, please do not hesitate to contact the Hiro Clinic NIPT staff. Also, if you have any questions about NIPT (New Non-invasive Prenatal Testing) or the plan, please consult with our doctors and staff.