Wide scope prenatal diagnosis at Kuopio University Hospital 1997-1998: integration of gene tests and fetal karyotyping.
OBJECTIVE
To investigate the applicability of carrier screening in women undergoing invasive prenatal diagnosis.


METHODS
Prospective study.


METHODS
University-based clinic.


METHODS
Two hundred and fifty-six pregnant women.


METHODS
Gene tests were offered for fragile X syndrome, aspartylglycosaminuria and infantile neuronal ceroid lipofuscinosis at the time of invasive prenatal testing.


RESULTS
The overall uptake of the tests was 92%. Previously unrecognised carriership was found in 10 women: aspartylglycosaminuria (7); infantile neuronal ceroid lipofuscinosis (2) and fragile X (1). Fetal genotyping was carried out in one carrier of aspartylglycosaminuria whose partner was also a carrier, and in one woman who was found to have fragile X premutation. Both fetuses were unaffected.


CONCLUSIONS
Carrier screening for single-gene disorders is feasible and well accepted among pregnant women undergoing invasive prenatal testing. The major benefit is that there is no need to consider extra invasive tests when carriership is detected. Incorporation of genetic testing into fetal karyotyping gives more security to future parents.
Kallinen
J
J
Department of Obstetrics and Gynaecology, University Hospital of Kuopio, Finland.
Marin
K
K
Heinonen
S
S
Mannermaa
A
A
Palotie
A
A
Ryynänen
M
M
D015331:Cohort Studies; D005260:Female; D005600:Fragile X Syndrome / Q000175:diagnosis*; D005820:Genetic Testing / Q000379:methods* / Q000523:psychology / Q000706:statistics & numerical data; D006579:Heterozygote; D006801:Humans; D007621:Karyotyping; D016464:Lysosomal Storage Diseases / Q000175:diagnosis*; D009472:Neuronal Ceroid-Lipofuscinoses / Q000175:diagnosis*; D010342:Patient Acceptance of Health Care; D011247:Pregnancy; D011296:Prenatal Diagnosis / Q000379:methods* / Q000523:psychology / Q000706:statistics & numerical data; D011446:Prospective Studies