early onset severe IUGR and ambiguous genitalia without any other anomaly

From: Lalehan Kutlay (lalehan1@superonline.com)
Tue Oct 31 18:01:09 2006


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?





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