Summary of this article
It is advisable to find out the sex and genetic makeup of your baby before birth because some genetic diseases have a risk of developing depending on the sex of the baby. Understanding genetic diseases will help you as a parent to make the right decisions and raise your child properly. It will also help you as a parent to make your baby’s life more comfortable without being confused by the sudden onset of the disease.
Why find out the sex of your baby before birth?
What’s the point of finding out the sex before birth?”
It’s going to be less fun.”
Do you have these thoughts about the sex of your baby?
To sum up, it is better to find out the sex and genetic makeup of the baby before delivery.
This is because some genetic diseases have a risk of developing*1 depending on gender.
If we know the gender and genetic information before the birth, we can provide for the comfort of the baby as parents.
X-linked recessive inheritance (X-linked recessive inheritance) is one of the causes of genetic disease.
Boys with a companion recessive inheritance develop the disease.
If it is a girl, your grandchildren may be at risk for developing the disease.
In this article,
- Diseases caused by companion recessive inheritance
- About Accompanied Recessive Inheritance
- What tests should I do as a parent?
This section explains the
If you do not understand the above, you will not be able to do anything to help your baby before the onset of the disease.
Even after the onset of the disease, they do not know when to go to the hospital, and by the time they realize it, it is too late.
Without knowledge about the disease, it is hard to know what department to go to.
However, understanding genetic diseases can help you as a parent make appropriate decisions and raise your child.
It will help you, as a parent, to make your baby’s life more comfortable without being confused by the sudden onset of the disease.
1 Onset: Symptoms or illness.
In this article, companion recessive inheritance is the cause of the disease.
Diseases prone to companion recessive inheritance
Humans have an X chromosome, and the information that makes up the human body is recorded in the X chromosome, and this information is called genes.
However, when this information is rewritten due to an abnormality, humans go on to various diseases.
The type of disease depends on which part of the disease is rewritten.
And if you or your spouse has any of the diseases listed below, your baby may inherit them.
red-green color-blindness
Simply put, they cannot recognize red and green systems.
I do not have bad eyesight.
However, there are restrictions on the occupations that can be entered in the future.
It is a type of color blindness, known as color blindness (shikimou).
for example
- Traffic and transportation pilots who see signal lights
- Painter, Designer
- Police, Fire, Marine, Defense
- Fugu Chef, Poisonous and Deleterious Substance Control Supervisor
is a profession that requires proof of non colorblindness.
Hemophilia (A and B)
Hemophilia is a disease in which “when you bleed, you can’t stop bleeding.”
This is because blood clotting factors are low.
Blood coagulation factors are responsible for blood clotting.
When blood is drawn from an injury, it hardens and forms a “scab” thanks to blood clotting factors.
There are two types of hemophilia, A and B, which develop from a companion recessive inheritance.
The difference between hemophilia A and B is the difference in blood clotting factors.
In other words, which blood clotting factors are low?
There is more than one blood coagulation factor.
Hemophilia A is due to abnormalities of factor VIII (8) and hemophilia B is due to abnormalities of factor IX (9).
muscular dystrophy
It is a disease that causes loss of muscle control.
The reason for the loss of muscle control is the lack of dystrophin.
Dystrophin is a protein that supports muscle shape from the inside out.
When the dystrophin gene is abnormal, dystrophin is not produced by the body.
The severity of the disease depends on which muscles lose control.
For example, respiratory muscles can lead to death from respiratory failure.
Without control of the legs and pelvic area, the patient will not be able to walk and will be in a wheelchair.
In recent years, the disease became famous with the movie “Banana Kayo Konnichiwa Aishiki Jitsuwa” starring Yo Oizumi.
Becker and Duchenne types
There are two types of muscular dystrophy caused by companion recessive inheritance: the Becker and Duchenne types.
The difference between the two is the amount of dystrophin.
Compared to the Becker type, the Duchenne type has a smaller amount of dystrophin.
Life expectancy also varies, with the Duchenne type surviving to around 30 years of age and the Becker type surviving into their 40s in some cases.
XLA (X-linked non-gammaglobulinemia)
XLA (X-linked non-gammaglobulinemia) makes the patient more susceptible to infection.
The reason for the increased susceptibility to infection is that B cells are not produced, leading to a weakened immune system.
The role of B cells is to produce antibodies.
B cells are not alone in immune function, but they are in an important position in immune function.
For example, because of a weakened immune system, they cannot resist bacteria and viruses and can easily become seriously ill,
- new strains of coronavirus infection
- meningitis
- septicemia
- pneumonia
- bronchitis
It is easy to become
X-linked ichthyosis
Ichthyosis is a condition in which the skin all over the body dries up and becomes scaly and flakes off a lot of dandruff.
In some cases, abnormalities are seen in organs other than the skin.
A genetic anomaly is the reason why the steroid sulfatase enzyme (STS) is not present in the body.
Glucose-6-phosphate dehydrogenase deficiency
Anemia is more likely to occur.
The reason for this is that reactive oxygen species make red blood cells more susceptible to hemolysis*1.
Glucose-6-phosphate dehydrogenase helps remove reactive oxygen species.
In other words, without this enzyme, ROS cannot be removed, and ROS causes hemolysis of red blood cells.
1 Hemolysis: Breakdown of red blood cells.
Companion recessive inheritance is the cause of the disease and is inherited
Human gender is represented by X and Y
Men are described as X and Y (hereafter XY) and women as X and X (hereafter XX).
Humans have 46 chromosomes.
Two of these chromosomes are X and Y or X and X. These are called sex chromosomes.
Part of X is abnormal and will be passed on
Companion recessive inheritance shows an abnormality in part of the X chromosome.
Sex chromosomes (X and Y) record the information that makes up the human body and are like a dictionary
It can be likened to a
If, for some reason, a part of the dictionary becomes defective, such as burning or tearing, the human body will lose the defective part.
In extreme cases, if the information about the little finger is written on the X chromosome and it is missing, we would be a person without a little finger.
And the lexicon (X chromosome abnormality) will be passed on to your offspring for generations to come.
Son has onset of disease, daughter rarely has onset of disease
If you inherit an X chromosome abnormality, your daughter (XX) will not develop the disease.
The reason is that women have two X chromosomes.
If you have two X chromosomes, if one is abnormal, the other will serve to compensate for the abnormality.
If a daughter (XX) develops the disease, both parents must have an abnormal X chromosome, which is very rare.
Son (XY) does not cover anomalies.
This is because the Y chromosome has fewer gene types than the X chromosome.
To use the analogy from the previous section, if the X chromosome is a dictionary, the Y chromosome is a paperback book.
A paperback book cannot replace a dictionary because it does not contain as much information as a dictionary.
The son (XY) who has nothing compensable will develop the disease, and the disease that develops will depend on how many pages of the dictionary are abnormal.
Both daughters and sons inherit
Sex chromosomes are inherited either X or Y from the father (XY) or X and X from the mother (XX).
The abnormal X chromosome is inherited with or without onset of disease.
However, there is not a 100% chance of inheritance.
How it is inherited depends on whether the father or the mother has the abnormal X chromosome.
Even if a daughter (XX) is born who does not develop the disease, she may still be a carrier*1.
If you do not know that your daughter (XX) is a carrier when she gives birth, your grandchildren may be adversely affected.
1 Predisposition: A condition in which a person has an abnormal gene but has not developed the disease./p>
If the father has an abnormal X chromosome
When the father has an abnormal X chromosome, it is not passed on to the son.
息This is because the child inherits the Y chromosome from the father.
However, the daughter always inherits an abnormal X chromosome and is a carrier.
If the mother has an abnormal X chromosome
If the mother carries the abnormal gene, there is a 50% chance that the gene will be passed on to sons and daughters, and the son will only develop the disease when he inherits it from his mother.
What you, as a parent, can do for your baby before birth [full chromosome test].
We recommend a prenatal diagnosis to test the baby’s gender and genetic makeup.
It is essential to understand about babies because it is essential to raising them.
As a parent, don’t you think it would be difficult to deal with the situation correctly if you don’t know in advance?
For example, suppose the baby is a boy and is at risk for hemophilia.
It’s horrible to realize the onset of the disease only after the bleeding stops.
Hiro Clinic NIPT でcan be sex-determined by prenatal diagnosis.
Companion recessive inheritance, introduced today, can be tested along with gender for the risk of developing the disease with the “whole chromosome test”.
I want my baby to be healthy and comfortable after birth.”
To make this wish come true, why don’t you as a parent know about your baby before birth?
[References]
- NATIONAL CANCER INSTITUTE) – X-linked recessive inheritance
- Tohoku University Graduate School of Medicine, Faculty of Medicine, Advanced Developmental Medicine Lecture on Fetal Pediatrics Murotsuki Laboratory, Department of Genetic Counseling for Companion Inheritance)
- Japan Blood Transfusion Products Association – Japan Blood Transfusion Products Association Hemophilia and Heredity
- Keio University Recommendations for Color Vision Testing – Before Choosing a Vocation
- Atarashii na shinshitsu dermatology, 3rd edition (Hiroshi Shimizu)
- MSD Manuals – MSD Manuals Duchenne and Becker muscular dystrophy
- National Hospital Organization Higashi Saitama Hospital muscular dystrophy
Article Editorial Supervisor
Dr Hiroshi Oka
NIPT specialist clinic, MD
Graduated from Keio University, School of Medicine