0091
PRENATAL GENETIC DIAGNOSIS OF PHENYLKETONURIA, TEN YEARS RETROSPECTION Yuan LF1,
Wang T1, Wang SZ1, Zhao SM2, Sun NH2,
Lo H-Y1 1 Institute of Basic
Medical Sciences, CAMS & PUMC, Beijing, China 2 Peking Union Medical
College Hospital, Beijing, China Objective: Classical phenylketonuria (PKU) is a
rather common inherited metabolic disorder caused by a deficiency of
hepatic phenylalnine hydroxylase (PAH). The majority of untreated PKU
patients are severe mental retarded. Low phenylalanie diet starts from
birth can prevent mental retardation. But it is too difficult. Many parents
are seeking for prenatal diagnosis. During past 40 years, we performed 40
prenatal diagnosis of PKU. Method: More than 200 cases of classical PKU were
diagnosed at PUMC Hospital. 40 pregnancies with high risk of classical PKU
requested for prenatal diagnosis. To detect PAH gene mutations, PCR-ASO
(allele-specific oligonucleotide), PCR-SSCP (single strand conformation
polymorfism) and PCR-STR (short tandem repeat) were used. Chorionic villi
and amniotic cells were processed for prenatal diagnosis.at 8-12 weeks
& 4-5 months respectively. Results: Among 40 pregnancies 26 fetus were predicted
normal, 24 were confirmed after birth, except two pregnancies were ended.
One was ended for spontaneous abortion and another one for gynaecologic
complication. 16 fetus were predicted as having PKU, one was given birth
and was confirmed as affected. The rest pregnancies were ended. Conclusion: Molecular techniques
can be used to do prenatal diagnosis in pregnancies with high risk of PKU.