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Kleinfelter's syndrome, a sex chromosome abnormality that can be detected early by NIPT

Group outpatient clinic supporting congenital diseases

As new-type prenatal diagnosis (hereafter NIPT) becomes more widespread throughout Japan, there are high expectations for medical efforts to support families who are concerned about their child's congenital disease.
In this issue, we will introduce the "group outpatient clinic" that supports babies born with congenital diseases and their families.

What should I do if my baby is found to have a congenital disease such as Down's Syndrome…"

Along with the joy of pregnancy, pregnant women may also experience such anxiety.

As new-type prenatal diagnosis (hereafter NIPT) becomes more widespread throughout Japan, there are high expectations for medical efforts to support families who are concerned about their child's congenital disease.

In this issue, we will introduce the "group outpatient clinic" that supports babies born with congenital diseases and their families.

What is congenital disease?

First of all, what kind of diseases are congenital diseases?

Congenital diseases are diseases that a baby is born with.

The disease can be captured in the following categories.

  • Chromosomal changes (about 25% of all birth defects): Down syndrome, 18-trisomy, 13-trisomy
  • Genetic changes (about 20% of all cases)
  • Various factors have an effect (about half of all cases): congenital heart disease
  • Teratogenic and environmental factors affect (about 5% of all): drugs, tobacco, alcohol, etc.

Even with these classifications of congenital diseases, only some of these diseases are known when the baby is born.

Sometimes the disease is discovered after the baby has grown up.

Of course, it is important to consider any illness or disability as one of the child's characteristics.

Congenital Diseases Revealed by Maternal Blood Fetal Chromosome Test (NIPT)

Among the baby's congenital diseases, 21 trisomy (Down syndrome), 18 trisomy, and 13 trisomy can be tested for positive, negative, or pending decision probability by NIPT, one of the prenatal genetic tests.

This test can be done with a blood draw at 10-18 weeks gestation and is non-invasive for the mother.

Organizations to consult after NIPT

It is advisable to have genetic counseling before and after NIPT.

This is because some parents may have concerns about continuing with the pregnancy depending on the results of the NIPT, and they need the opportunity to work together with the specialist to provide psychological support and address their concerns afterwards.

In addition to genetic counseling, there are also organizations that support families undergoing NIPT in choosing what kind of happiness they want, such as the NPO Association for the Future of Parents and Children.

This non-profit organization also operates the "Cradle" service, which provides free consultations on NIPT testing, results, and baby diseases.

What is a group outpatient clinic?

Before undergoing NIPT, we would like you to know that even if your baby is found to have Down syndrome or other disabilities, there is medical and welfare support for the parents and the newborn baby.

Among them, it can be said that many group outpatient clinics, mainly hospitals, provide support for infants with Down syndrome, a common congenital disorder, and their families.

The group outpatient clinic is characterized by providing comprehensive child development and psychological and social support for the child and family picture to the group after the announcement of Down syndrome, which cannot be handled by individual outpatient clinic alone.

What takes place in a group outpatient clinic

The group outpatient program offers early treatment and education for Down syndrome for children with Down syndrome from 0 to about 3 years of age and their families.

Most courses are six months to one year in early infancy, and course content varies depending on the hospital offering the course.

In most cases, a visit to a geneticist's outpatient clinic is required prior to any group outpatient clinic.

Furthermore, the group outpatient clinic is unique in that it not only provides information for the child and family, but also provides an opportunity for family interaction.

Many of the programs are monthly for six months to a year, and are designed to provide a program that promotes the development of babies with Down syndrome by physicians, certified nurses, certified genetic counselors, clinical psychologists, physical therapists, occupational therapists, speech therapists, nutritionists, social workers, childcare professionals, dental hygienists, and other professionals.

  • Health care (ophthalmology, otolaryngology, orthopedics, cardiology)
  • Motor development and rehabilitation
  • Medical and welfare information (services and facilities to be used)
  • Eating Function Development and Dental Health, Feeding and Feeding Advice
  • Play and Communication
  • Parenting Free Talks and Study Sessions for Parents
  • Information on local rehabilitation and educational institutions
  • Genetic counseling

These are incorporated into the program and offered to children with Down syndrome and their families.

Hospitals with group outpatient services

In Japan, the following hospitals have established group outpatient clinics for children with Down syndrome and their families.

Clinic with group therapy

Many hospitals and facilities are operated by volunteers in addition to medical personnel, and it must be said that they are few in number in the country.

What to Expect from Group Outpatient Services

One of the expected benefits of having children with Down syndrome and their families participate in group outpatient programs is that the interaction between children with Down syndrome and their families can reduce the family's sense of isolation and anxiety.

In addition, through the group outpatient program, an understanding of Down syndrome and an attitude toward parenting will be promoted, which will help the child progress in understanding and acceptance of the disorder through feelings of affirmation and denial of the disorder.

In this sense, it is significant to participate in group outpatient programs for children with Down syndrome and their families.

Support for children with congenital conditions other than Down syndrome and their families is also needed, as well as outpatient services for the Down syndrome population.

However, there are only a few of them in Japan, and group outpatient clinics (congenital anomaly syndrome) have been established at the Saitama Children's Medical Center.

Summary

Because NIPT shows the probability of congenital diseases, it is important to know that there are services and medical, childcare, and rehabilitation support, including group outpatient services, for children with Down syndrome and other congenital diseases and their families before undergoing NIPT.

Knowing these facts will help you to obtain appropriate information and make appropriate decisions after receiving the NIPT test results, and will also help to alleviate your anxiety.

It is most important to take the NIPT test with an understanding and information about the Down syndrome disease and support systems, such as group outpatient services, and what kind of support is available.

It can be said that more and more group outpatient clinics will be established in the future, and a system must be created so that pregnant women undergoing NIPT will be informed of their existence.