NIPT outpatient care
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NIPT outpatient care For those of you who have tested positive for NIPT
NIPT (Non-invasive Prenatal Genetic Testing) looks for chromosomal abnormalities such as Down syndrome (21 trisomy), 18 trisomy and 13 trisomy. However, it only confirms the possibility and is not considered to be "diagnostic" of chromosomal abnormalities.
Even if the NIPT test is negative and no problem is detected, a chromosomal abnormality may still be present. On the other hand, it is possible to have a positive result and then have a false positive result when another test confirms that the result is normal.
A positive result in NIPT does not mean that the chromosomal abnormality is confirmed, so please do not be concerned about your fetus based on the result alone.
Recently, unlicensed facilities sometimes reveal chromosome number abnormalities other than trisomy, as well as minor abnormalities such as microchromosome loss and gain, and some patients visit CRIFM because they received positive results by these microchromosome abnormalities by NIPT.
It is not possible to check for microchromosome abnormalities by general amniocentesis (G-band), but a special test called a microarray must be performed.
CRIFM's CVS and Amniocentesis can clearly show all chromosomal microchromosome abnormalities, by SNP microarray technology.
What CRIFM can do for you when you test positive for NIPT
At our clinic, we do not do the CVS or Amniocentesis immediately after a positive NIPT result. We will guide you through the CVS or Amniocentesis after carefully examining your baby in a detailed ultrasound.
The method of confirmatory testing will vary depending on what exactly has tested positive. Take a close look at the results of your NIPT and try to figure out how to do the confirmatory tests.
All patients must first undergo a fetal dock, after which the method and content of the definitive test will differ depending on the positive results.
What is fetal dock?
A fetal dock is the detailed ultrasonography examination, which has a combination of genetic ultrasonography and morphological diagnosis to identify chromosomal and congenital abnormalities.
In particular, early fetal diagnosis at 11-13 weeks is expected to have a higher detection rate of chromosomal abnormalities than 2nd trimester or later. Each chromosomal abnormality can be used to determine the characteristics of the disease and to make a more detailed diagnosis of the next test to be performed.
In addition to the measurement of NT and heart blood flow, the doctor will also check for problems in facial structure and organ development, such as low set ear and small mandible, which are commonly seen in babies with chromosomal abnormalities or genetic mutations.
Flow of fetal diagnosis
If you receive a positive result from NIPT, please do not worry about it alone.
If the fetal diagnosis also indicates a chromosomal abnormality, we will guide you to CVS or Amniocentesis. If fetal dock result is negative, the Amniocentesis is a more reliable test than the CVS, because NIPT positive result may be because of placental mosaicism with normal baby.
When a chromosome test is necessary
CVS
CVS is performed by extracting fetal DNA from chorionic tissue that contains cells of fetal originplacenta. The test can be performed as early as 5 hours after CVS by QF-PCR test of 21, 18, and 13 trisomies without culturing the chromosomes.
Flow of CVS
A blood test is done on the mother to check for possible infection. If there is no problem, local anesthesia is administered, and the chorionic villus tissue is collected, taking care to be safe while checking with transabdominal ultrasonography. We use the latest high-end ultrasound machine. The test takes about 10 seconds.
CVS fee
| CVS fee (including QF-PCR rapid test, chromosome karyotyping, and D-karyo microchromosome test) |
229,900 yen (tax included) |
|---|---|
| Preoperative examination | 5,500 yen (tax included) |
| DNA extraction fee | 16,500 yen (including tax) |
| Explanation of results, genetic counseling | 3,850 - 22,000 yen (tax included) |
In addition to the above basic fee, fetal diagnosis: 41,800 yen or more (including tax) will be charged for those who have not yet undergone fetal diagnosis.
Amniocentesis
This is a test for chromosomal abnormalities performed after 16 weeks. Cells from the amniotic fluid are collected and cultured to increase the number of cells, and then the shape and number of chromosomes are examined to determine the presence of abnormalities.
The test can be performed as early as 5 hours after CVS by QF-PCR test of 21, 18, and 13 trisomies without culturing the chromosomes.
However, it will take two to three weeks before we can provide you with accurate results from a detailed examination of all the chromosomes for changes in number and structure, microstructure and genetic changes. (G-band and D-karyo)
Flow of the Amniocentesis
Transabdominal ultrasound is used to look inside the uterus and carefully collect the sample, avoiding the fetus, umbilical cord and placenta. No anesthesia is required and the test takes about one minute.
Amniocentesis fee
| Amniocentesis fee (including QF-PCR rapid test, chromosome karyotyping, and D-karyo microchromosome test) |
189,900 yen (tax included) |
|---|---|
| Preoperative examination | 5,500 yen (tax included) |
| DNA extraction fee | 16,500 yen (including tax) |
| Explanation of results, genetic counseling | 3,850 - 22,000 yen (tax included) |
※In addition to the above basic fee, if you have not had a fetal diagnosis yet, you will be charged a fetal diagnosis fee of 41,800 yen or more (tax included).
For both the CVS and the Amniocentesis, both mothers and fathers are required to come to the clinic together to receive the test results. If both parents are unable to come to the clinic for the explanation of the results, they will not be allowed to take the test.
About CVS and Amniocentesis
Click here for details.
Ultrasound images can be viewed on medical imaging cloud services.
CRIFM uses Tricefy, a medical imaging cloud service, which allows mothers to share their baby's ultrasound images directly with their smartphones.
Since the images can be stored in the cloud with thorough security, you can view the images of your cute baby anytime, anywhere, from any device.
For those of you who are not sure if you want to see an NT outpatient care provider
The prenatal fetal diagnosis, which we offer to those who have undergone NIPT at other medical institutions and tested positive, is a combination of genetic ultrasound (to determine the probability of Down syndrome, etc.) and morphological diagnosis (nowadays, quite a few congenital malformations can be diagnosed from the very beginning).
Therefore, strictly speaking, ultrasonography is not only a screening test, but also a diagnostic test in a sense.
Prenatal diagnosis is the beginning of CRIFM Care
At CRIFM, we believe that prenatal diagnosis is not the goal, but the beginning.
If we find any abnormality in your baby, we will explain the condition of your baby based on objective and accurate imaging diagnosis. We will provide you with the latest information on the clinical course and treatment of each disease, which is advancing day by day, and we will discuss with you and your mother what preparations you can make for your baby.
CRIFM also provides consultation services for mothers and fathers who are unsure whether to continue their pregnancy or are worried about their ability to continue their pregnancy.
CRIFM does not deliver babies or provide treatment, but we will refer you to an appropriate medical institution based on the condition of the baby and the wishes of the mother and father.
The entire staff at CRIFM will support mothers and fathers in dealing with their babies until the end of their lives.
If you have any concerns about your baby, why don't you check the health of your baby with Dr. Pooh. Please feel free to call us first.
Medical Appointments
All appointments are by appointment only.. Appointments can be made by phone (until the end of the clinic) or by using the "Appointment Form" on our website, so please feel free to make an appointment. Please remember to bring a letter of introduction written by the doctor who take care of you, health insurance card, and maternal and child health handbook with you when you come to the clinic. If you do not have a letter of introduction, you will need to pay an additional fee of 5,500 yen (tax included).
Currently, in order to prevent COVID-19 infection, only mothers are allowed to visit the clinic. Dads and other family members are asked to wait in the "Family Kizuna Lounge".