Aa
preganacy
Hello im 32 and just found out im 7 weeks pregnant and have had two healthy children with a previous partner.My partner now ,had a child with his previous partner which was servely ill,one being hydrocephalus they was told not to go through with the pregnancy,for them reasons,but had the baby but he sadley died at the age of two.Now im very concerned about my baby and wondered if i can have a scan or tests to check all is well at this early stage,or do i have to wait untill im 12 weeks?I would appreciate if you could answer my question as im very worried.Thank you.Emily
MEDICAL PROFESSIONAL
Congratulations on your pregnancy. Given your current partner's history, you may benefit from meeting with a genetic counselor to review a detailed family history and talk about your partner's son who passed away and see if any more information is known about the cause of his hydrocephalus. If any of his medical records are available, it would be helpful to share these with the genetic counselor, too.
As you have read, hydrocephalus is a build-up of cerebrospinal fluid (CSF) in the ventricles of the brain. This may lead to pressure inside of the skull and enlargement of head. There are many possible causes of hydrocephalus, and some but not all can run in families. Some of the types of hydrocephalus run in families in an autosomal recessive or in an X-linked pattern. If this were the case in your partner's son, then this would be reassuring for you. Here is some background information about inheritance to help explain why.
In an autosomal recessive condition, both parents need to be carriers of a changed gene in order to be at increased risk of passing on the condition. If this were the case, there is a 25% chance with each pregnancy to have an affected child.
The X-linked recessive form of hydrocephalus is the most common form. The gene for this condition is carried on the X chromosome. As you may recall, our chromosomes come in pairs. We have 23 pairs of chromosomes, and the last pair determines our sex. Men have XY chromosomes, and women have XX chromosomes. With X-linked recessive inheritance, if a man carries a condition on his X chromosome, he passes it on to all of his daughters, but
none of his sons (because he gives them a Y chromosome). If this is the cause of hydrocephalus in your partner's son, this would be reassuring for this pregnancy because this may have been something he inherited from his mother and not from your partner.
Depending on the cause of hydrocephalus in your partner's son, you can talk with your doctor about what would be best for you in terms of screening. You can find a genetic counselor from the National Society of Genetic Counselor's website.
As you have read, hydrocephalus is a build-up of cerebrospinal fluid (CSF) in the ventricles of the brain. This may lead to pressure inside of the skull and enlargement of head. There are many possible causes of hydrocephalus, and some but not all can run in families. Some of the types of hydrocephalus run in families in an autosomal recessive or in an X-linked pattern. If this were the case in your partner's son, then this would be reassuring for you. Here is some background information about inheritance to help explain why.
In an autosomal recessive condition, both parents need to be carriers of a changed gene in order to be at increased risk of passing on the condition. If this were the case, there is a 25% chance with each pregnancy to have an affected child.
The X-linked recessive form of hydrocephalus is the most common form. The gene for this condition is carried on the X chromosome. As you may recall, our chromosomes come in pairs. We have 23 pairs of chromosomes, and the last pair determines our sex. Men have XY chromosomes, and women have XX chromosomes. With X-linked recessive inheritance, if a man carries a condition on his X chromosome, he passes it on to all of his daughters, but
none of his sons (because he gives them a Y chromosome). If this is the cause of hydrocephalus in your partner's son, this would be reassuring for this pregnancy because this may have been something he inherited from his mother and not from your partner.
Depending on the cause of hydrocephalus in your partner's son, you can talk with your doctor about what would be best for you in terms of screening. You can find a genetic counselor from the National Society of Genetic Counselor's website.
We just found out through genetic testing our unborn child has 47, xyy. We are struggling to get straight, conclusive answers on what this means. Who would you suggest we speak to?
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