Right, they didn't want the baby cut open.  Of course at the time they thought it was a boy.....hindsight 20/20!!  Robin

________________________________

From: Communication for the Heartland Regional Genetics Group on behalf of Gorski, Jerome L.
Sent: Mon 19-Feb-07 1:20 PM
To: [log in to unmask]
Subject: Re: fetal demise with anomalies



Hi Robin,

Interesting.  I take it that by a gross exam you mean that there was no
dissection performed.  If there was a dissection, I'm curious as to what
was observed (intraabdominal testes, uterus, etc??).

There are no diagnostic studies that I can recommend now.  However, I
would counsel them that their recurrence risk could be as high as 25%
with a possible autosomal recessive developmental defect.  I hope that
this helps.  Later...

Jerry

-----Original Message-----
From: Communication for the Heartland Regional Genetics Group
[mailto:[log in to unmask]] On Behalf Of Troxell, Robin M.
Sent: Monday, February 19, 2007 1:09 PM
To: [log in to unmask]
Subject: fetal demise with anomalies

Hello -
I have a 23 year old G2,P1,IUFD1 patient returning for counseling this
week.  Baby had severe hydrops/anasarca, single-chamber heart, cystic
kidneys with probably hydronephrosis, IUGR, cystic hygroma, dilated 4th
ventricle of brain, and bilateral cervical/?branchial cleft cysts first
noted on 20 week scan.  Autopsy at 22 weeks after demise was limited to
gross exam which was normal, except for ambiguous genitalia.  Parents
were told baby was male.  Karyo 46,XX.  No samples from baby remaining.
Anything specific to offer them at this point?

Thanks,
Robin
************************************
Robin M. Troxell, MS, CGC
Genetic Counselor
University of Missouri Department of Child Health Mercy St. John's
Hospital (Springfield, MO)
(p) 417-820-9839
(f) 417-820-3720
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