We report our experience, since 1978, with prenatal diagnosis in fetuses at risk for @entity11807 . Amniotic fluid cells from 30 fetuses from 24 families were monitored for baseline and @entity19644 -induced chromosomal breakage. Seven of the fetuses at risk were diagnosed as affected; baseline and @entity19644 -induced breakage ranged from 0.18 to 0.45 and 0.69 to 0.96 breaks per cell, respectively. The range of baseline and @entity19644 -induced chromosomal breakage in amniocytes from the 23 pregnancies at risk that were diagnosed prenatally as unaffected ranged from 0 to 0.08 and 0 to 0.13 breaks per cell, respectively. Four of these cases were also diagnosed as normal on the basis of chromosomal breakage studies in cells obtained by chorionic villus sampling. The range of baseline and @entity19644 -induced breakage in cells from five control fetuses was 0 to 0.05 and 0 to 0.10 breaks per cell, respectively. Of the pregnancies diagnosed as affected, two were carried to term, whereas five were terminated. One newborn and two abortuses had @entity600 including @entity854 and radius. The other affected live-born @entity1 , now 5 1/2 years old, has severe @entity851 and @entity3043 . No @entity11807 -associated @entity600 were found in any of the other fetuses or newborns studied. In all cases in which tissue was available for study, diagnoses were confirmed by chromosome breakage studies. This method thus permits reliable detection of @entity11807 .

XXXX : prenatal diagnosis in 30 fetuses at risk.

@entity1 :: ('9606', 'Species') :: ['infant'] @entity851 :: ('MESH:D006130', 'Disease') :: ['growth retardation'] @entity600 :: ('MESH:D000014', 'Disease') :: ['malformations', 'congenital malformations'] @entity854 :: ('MESH:D018376', 'Disease') :: ['abnormalities of the thumb'] @entity19644 :: ('MESH:C007366', 'Chemical') :: ['diepoxybutane'] @entity3043 :: ('MESH:D010198', 'Disease') :: ['pancytopenia'] @entity11807 :: ('MESH:D005199', 'Disease') :: ['Fanconi anemia']
@entity11807 :: (MESH:D005199,Disease) :: ['Fanconi anemia']
