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Genetics (Expert Forum)
Gynaecologist
Answered by
Lisa Kessler, MS, CGC - Hereditary Disorders, hemochromatosis, Patient Outreach
DNA Direct
Welcome to the Genetics Forum! Questions in the Genetics Forum are being answered by genetic experts from AccessDNA. This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Ashkenazi Jewish Diseases, Bleeding Disorders, Blood Clotting Disorders, Cancer Genetics and Hereditary Cancer Syndromes, Chromosome Abnormalities, Congenital Birth Defects, Cystic Fibrosis, Family History, Fragile X Syndrome, Infertility, Newborn Screening, Rare Genetic Disorders, Prenatal Screening and Testing.
This forum is for questions and support regarding a person’s predisposition to a variety of medical conditions such as Alzheimer’s Disease, Blood-clotting Disorders, Breast Cancer, Cystic Fibrosis, Diabetes, Marfan Syndrome, Ehlers-Danlos Syndrome, etc.
Gynaecologist
by Jaya 29, Sep 22, 2007 11:00AM
Hello doctor,
I am 29 years old and my husband 33 . After planning for 4 yrs we started to try for a child. On 29 th april i found that i was pregnant . Went to the doctor to confirm and he said i was pregnant . We both were very happy . But after a week i started to bleed . Went for a scan and doctor told that i am having a sac and there is no baby inside. One week later i went for a 2nd US and there was a baby's heartbeat. After that everything was normal. I did my 12 week scan and there was no problem. When i went for my 22 week scan the doctor told there is something wrong with the baby. I didnt have amniotic fluid and the baby's kidney was polycystic.
I still unable to understand why it was not possible for them to realease it on my 12 week scan.
i am staying in paris and went to Pitie salpeterie hospital. There doctor told that they suspect it is a very rare type of genetic diease named as MECKEL SYNDROME.I interrupted the pregnancy as doctor told that there is no chance the baby will be alive after birth,and in case he was alive he will not live for long. My husband and i are not related or nither of us had anyone in our family having kidney problem. All had their childrens normally.
Why did it happen to us ? what is the possibity that it will not happen in the next pregnancy.
When can i try again for the next baby.
I am 29 years old and my husband 33 . After planning for 4 yrs we started to try for a child. On 29 th april i found that i was pregnant . Went to the doctor to confirm and he said i was pregnant . We both were very happy . But after a week i started to bleed . Went for a scan and doctor told that i am having a sac and there is no baby inside. One week later i went for a 2nd US and there was a baby's heartbeat. After that everything was normal. I did my 12 week scan and there was no problem. When i went for my 22 week scan the doctor told there is something wrong with the baby. I didnt have amniotic fluid and the baby's kidney was polycystic.
I still unable to understand why it was not possible for them to realease it on my 12 week scan.
i am staying in paris and went to Pitie salpeterie hospital. There doctor told that they suspect it is a very rare type of genetic diease named as MECKEL SYNDROME.I interrupted the pregnancy as doctor told that there is no chance the baby will be alive after birth,and in case he was alive he will not live for long. My husband and i are not related or nither of us had anyone in our family having kidney problem. All had their childrens normally.
Why did it happen to us ? what is the possibity that it will not happen in the next pregnancy.
When can i try again for the next baby.
Doctor's Answer
by Lisa Kessler, MS, CGC, Sep 24, 2007 06:43PM
, Sep 24, 2007 06:43PM
I am very sorry for all that you and your husband have gone through, and I hope that you are able to comfort each other. You are asking very important questions, and perhaps this information can help to guide you both. Making a decision about trying again is very personal and depends upon a number of factors including recommendations from your doctor and when you are emotionally and physically ready to try again.
In the general population, there is a 3-5% chance with each pregnancy that there will be problem. These risks are increased if two partners or related or if there is known family history of a condition.
As you may know, Meckel syndrome is a severe condition which causes cysts in the kidney as well as problems in the central nervous system, liver fibrosis, postaxial polydactyly (having an extra finger), and an occipital encephalocele (this is a specific finding that involves the skull and the brain).
Meckel syndrome is an autosomal recessive condition. This means that both parents need to be carriers of this condition in order to have a child with Meckel syndrome. If two parents are carriers, then there is a 25% chance with each pregnancy that the pregnancy will be affected with Meckel syndrome.
I encourage you to meet with a genetic counselor who will review your specific situation and discuss options for future pregnancies. Some people in your situation pursue carrier testing for Meckel syndrome. Depending on those test results, it may be possible to have prenatal diagnosis for other pregnancies, if you choose. Some people in your situation do not choose to have testing. A genetic counselor can review all of these options with you and as well as discuss if the diagnosis of Meckel was confirmed in this recent pregnancy. To provide information about the chances that this may happen in the future depends on the certainty of the diagnosis. You can find a genetic counselor through the National Society of Genetic Counselors (NSGC) website.
In the general population, there is a 3-5% chance with each pregnancy that there will be problem. These risks are increased if two partners or related or if there is known family history of a condition.
As you may know, Meckel syndrome is a severe condition which causes cysts in the kidney as well as problems in the central nervous system, liver fibrosis, postaxial polydactyly (having an extra finger), and an occipital encephalocele (this is a specific finding that involves the skull and the brain).
Meckel syndrome is an autosomal recessive condition. This means that both parents need to be carriers of this condition in order to have a child with Meckel syndrome. If two parents are carriers, then there is a 25% chance with each pregnancy that the pregnancy will be affected with Meckel syndrome.
I encourage you to meet with a genetic counselor who will review your specific situation and discuss options for future pregnancies. Some people in your situation pursue carrier testing for Meckel syndrome. Depending on those test results, it may be possible to have prenatal diagnosis for other pregnancies, if you choose. Some people in your situation do not choose to have testing. A genetic counselor can review all of these options with you and as well as discuss if the diagnosis of Meckel was confirmed in this recent pregnancy. To provide information about the chances that this may happen in the future depends on the certainty of the diagnosis. You can find a genetic counselor through the National Society of Genetic Counselors (NSGC) website.
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