Discussions By Condition: I cannot get a diagnosis.

Why do my babies keep dying

Posted In: I cannot get a diagnosis. 2 Replies
  • Posted By: Mrssugarman
  • March 13, 2008
  • 07:48 PM

:confused:Hello, I am a 29 year old female, I have a healthy 5 year old son and with his pregnancy I had no complications. Since my son, I have had 3 miscarriages outside of 2 pregnancies that ended with both of my babies dying of Renal Agenesis (Potter's Syndrome). This disease affects the urinary tract that causes the baby not to born with kidneys and this in turns prevents the baby from producing amniotic fluid which helps with the development of the lungs. In both cases the baby can not survive outside of the womb. Both myself and my husband have had chomosome testing that came out normal, I have seen a fertility specialist that didn't find any abnormalities and again all of my testing have come back normal. I've gone to a Maternal Fetal Specialist and they couldn't find anything wrong. I really don't know where to go now, I need to find out if anyone can tell me what specialist we need to seek, and what test we need to ask for to find out what's going on. Can anyone help us? We so desperately want to have more babies, but we just can't go through another loss like this again.

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  • I am so sorry for your loss. I had to look up Potter's syndrome as I have never heard of it. From what I read, it sounds like even though you have had chromosome testing, there can still be abnormalities that exist. I wish you well in your search for answers. http://en.wikipedia.org/wiki/Potter_syndrome
    Beth56 272 Replies Flag this Response
  • Hello. My name is Maurizio Gallieni, I am a nephrologist from Italy. I have never seen a case of Potter's syndrome, because I work with adults and because it is indeed a rare disease. Your case is moving, I am sorry about what you went through. I searched the Net to find something that could be of help. Here is what I found:1. In PubMed, there is not much, especially no recent articles. However, I found a 1978 article (see below) that reports a case similar to your own (recurrence of Potter Syndrome).2. There is an internet sites dedcaited to Potter Syndrome:http://www.potterssyndrome.org/Through this site, I found another one that I strongly reccommend, because it is from University of Iowa. Its curator, Dr. Patrick Brophy, a pedaitric nephrologist, seems to be the right person for you. http://www.kidneygenes.com/ - contact: info@kidneygenes.com3. A detailed outline of the disease can be found at the following link:http://www.emedicine.com/PED/topic1878.htmAll the best for you and your family,Maurizio----------------------------------------------------------------Eur J Obstet Gynecol Reprod Biol. 1978 Jun;8(3):137-42.Bilateral renal agenesis (Potter's syndrome) in two consecutive infants.Loendersloot EW, Verjaal M, Leschot NJ.Bilateral renal agenesis is a relatively rare congenital anomaly; its frequencyis 1 : 3000-4000 deliveries, with a remarkable predominance of male infants. Thisanomaly is most often found in combination with characteristic facial features('Potter's face') and pulmonary hypoplasia, the combination being known asPotter's syndrome. In the course of pregnancy an increasing oligohydramniosbecomes manifest; during labor, virtual absence of amniotic fluid is found inmost cases. This oligohydramnios should alert the obstetrician to suspectPotter's syndrome; serial ultrasonography may confirm the diagnosis. Mostaffected children are born alive but die within a few hours due to respiratorydifficulties caused by the pulmonary hypoplasia. Despite the remarkable facialcharacteristics of these infants, it was only in a small minority that thediagnosis was considered before autopsy. This stresses the need for a fullpost-mortem examination in all cases of perinatal death. The etiology is stilluncertain, though multifactorial inheritance is the most likely. As aconsequence, the recurrence risk is not negligible; the small number of 'familialoccurrence' observations, however, does not allow estimation of a risk figure.Genetic counseling is indicated in any family giving birth to a child withbilateral renal agenesis. A family is described in which two consecutive maleinfants with bilateral renal agenesis were born alive and survived 19 and 38 h.PMID: 264077
    Anonymous 42,789 Replies Flag this Response
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