Prenatal diagnosis by minisatellite analysis in Italian families with phenylketonuria.

[classical phenylketonuria]

A polymorphic short tandem repeat (STR ) in intron 3 (Goltsov et al ., 1993 ) and a variable number of tandem repeats (Hind III -VNTR ) flanked by two constant Hind III sites (Golstov et al ., 1992 ) have been recently identified in the human phenylalanine hydroxylase (PAH ) gene . These polymorphisms are easily detected by the polymerase chain reaction (PCR ) and gel electrophoresis . We report on the use of these two novel polymorphisms in three Italian families with pregnancies at risk for classical phenylketonuria (PKU ). A carrier status for PKU was ascertained in two fetuses ; the third family refused prenatal diagnosis , although informativeness was shown to be complete .

Diseases
Validation

Diseases presenting "prenatal diagnosis" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

alpha-thalassemia

aromatase deficiency

benign recurrent intrahepatic cholestasis

cadasil

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital diaphragmatic hernia

congenital toxoplasmosis

cystinuria

dentinogenesis imperfecta

epidermolysis bullosa simplex

harlequin ichthyosis

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

junctional epidermolysis bullosa

kindler syndrome

krabbe disease

lamellar ichthyosis

megacystis-microcolon-intestinal hypoperistalsis syndrome

monosomy 21

neonatal adrenoleukodystrophy

oculocutaneous albinism

omenn syndrome

phenylketonuria

primary hyperoxaluria type 1

pyruvate dehydrogenase deficiency

severe combined immunodeficiency

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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