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Dr. Andrew Rynne
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Dr. Andrew Rynne

Family Physician

Exp 50 years

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Could Myotonic Dystrophy Type 1 Be Detected When I Was Pregnant With A Child With Major Exomphalos?

Hi I had an amniocentesis done when I was pregnant with my son as he had major exompholis so they checked for other defects well at the time I didn t know I had myotonic dystrophy type 1 would the doctors of still picked up on it if my son had it as its genetic.
Mon, 5 Feb 2024
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General & Family Physician,  's  Response
Hi,

Myotonic dystrophy type 1 is genetically inherited through dominant autosomal mode. Therefore, it is possible, to diagnose it through amniocentesis pre-natal, if the parents want to find out presence of myotonic dystrophy in fetus. The procedure involves, removing a sample of fluid from the womb, that contains skin cells shed by the fetus. However, I cannot say whether this test was specifically performed on your baby or not. If this test was performed, then, the doctors should have known about presence or absence of this condition.

Take care. Hope I have answered your question. Let me know if I can assist you further.

Regards,
Dr. Satnarain Bansal, General & Family Physician
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Could Myotonic Dystrophy Type 1 Be Detected When I Was Pregnant With A Child With Major Exomphalos?

Hi, Myotonic dystrophy type 1 is genetically inherited through dominant autosomal mode. Therefore, it is possible, to diagnose it through amniocentesis pre-natal, if the parents want to find out presence of myotonic dystrophy in fetus. The procedure involves, removing a sample of fluid from the womb, that contains skin cells shed by the fetus. However, I cannot say whether this test was specifically performed on your baby or not. If this test was performed, then, the doctors should have known about presence or absence of this condition. Take care. Hope I have answered your question. Let me know if I can assist you further. Regards, Dr. Satnarain Bansal, General & Family Physician