Ae. Donnenfeld et al., TISSUE-SPECIFIC MOSAICISM AMONG FETUSES WITH PRENATALLY DIAGNOSED DIAPHRAGMATIC-HERNIA, American journal of obstetrics and gynecology, 169(4), 1993, pp. 1017-1021
OBJECTIVE: Our purpose was to determine if cytogenetic discrepancies b
etween fetal blood and amniotic fluid are present in fetuses with pren
atally diagnosed diaphragmatic hernia STUDY DESIGN: Chromosome analysi
s was performed on 15 fetuses with prenatally diagnosed diaphragmatic
hernia. Fourteen had both amniotic fluid and fetal blood studies One f
etus had an amniocentesis followed by postnatal skin and peripheral ly
mphocyte chromosome analysis. RESULTS: In one fetus with a normal kary
otype on fetal blood, amniotic fluid mosaicism for a supernumerary iso
chromosome 12p was identified, Another fetus had normal amniotic fluid
chromosome analysis but was diagnosed with mosaic isochromosome 12p o
n skin biopsy after birth. Concordant aneuploidy in both fetal blood a
nd amniocytes was found in five pregnancies (three with trisomy 18, on
e with an unbalanced translocation, and one with mosaic supernumerary
isochromosome 12p). Eight fetuses had normal karyotypes, CONCLUSION: B
ecause diaphragmatic hernia is a common component of mosaic isochromos
ome 12p syndrome and this chromosome abnormality is predominantly foun
d in fibroblasts but not lymphocytes, an amniocentesis may be more acc
urate than fetal blood sampling in defining the true fetal chromosome
status when diaphragmatic hernia is detected prenatally.