Re: early onset severe IUGR and ambiguous genitalia without any other anomaly
From: Efrain Ramirez (eramirezt@coqui.net)
Wed Nov 1 20:35:18 2006
Good questions..
Thrombophilia work up is my first option..
Ef
At Wed, 1 Nov 2006, JD Stewart,MD wrote:
> Few details you may or may not be able to access-
>2 or 3 cord vessels?
> Any history of losses/ defects in either side of family?
>Coagulopathy/ autoimmune problems? (One would expect preeclampsia with
>this...)
>Was mom's platelet count normal? The timing of the IVH would coincide
>with expected low platelet count in baby (48-72 hrs)
>Anything on the placental pathology of note..clots, infarcts , villous
>dysmorphology?
>Was a more detailed autopsy done of the baby?
>
>Sorry for this loss. Clinically, surprising that baby made it to
>delivery age, given the degree of IUGR...
>
>At Tue, 31 Oct 2006, Lalehan Kutlay wrote:
>>
>> CASE INFORMATION
>>
>>First trimester screening test of a 29 years old woman in her first
>>pregnancy with no health problem revealed high levels of free BHCG.NT
>>was within normal limits and no other abnormal finding was observed in
>>second level ultrasonographic examination. Fetal caryotype was reported
>>as normal (It's forbidden to give information about sex genotype in
>>Turkey ) .Fetal growth restriction was observed after 18 th week and
>>maternal uterine artery doppler was abnormal.Ultrasonography of external
>>genitalia was reported as normal female fetus.
>>
>>At 26th week ,EFBW was 580 gr.In spite of absence of end-diastolic
>>velocity,fetal body movements were normal, NST was reactive and AFI was
>>within normal limits .
>>
>>Up to 32 th week NST's were reactive , AFI measurements were normal but
>>brain spairing effect persisted .Maternal blood pressure was always
>>normal during pregnancy.
>>
>>Ath 32th week EFBW was 680 gr,AFI was lower than %3 . NST was non
>>reactive and CS is performed and a 700 gr baby with severe hypospadias
>>,micropenis and palpable testicles was delivered. There was no other
>>congenital malformation. Fetal caryotype is learned as 46XY.
>>
>>RDS was not severe and nasal CPAP is sufficient after 12 hours of
>>endotracheal entubation. After 36 hours intracranial hemorrhage is
>>observed and neonatal excitus occured in 3rd day.
>>
>> I'd like to hear the comments about;
>>
>>- Is it possible to explain this severe IUGR with uteroplacental insufficiency ?
>>
>>- Is there any syndrome defined to explain this case ?
>>
>>- What is to be done for future pregnancies?
>
>--
>JD. Stewart, MD
>MFM up too late all night, every night
>
--
“ The greatest obstacle to knowledge is not ignorance,
it is the illusion of knowledge.” Daniel J. Boorstin - Historian
