Ancillary benefits of prenatal maternal serum screening achieved in the California program.
OBJECTIVE
To evaluate the extent of fetal structural abnormalities, other than neural tube and abdominal wall defects (AWDs), identified by California's Prenatal Screening Program.


METHODS
The Quad Marker Prenatal Screening records of 516,172 women were examined for screening interpretation and the diagnosis of structural abnormalities detected via follow-up. Women who were screen-positive for trisomy 21, trisomy 18, neural tube defects (NTDs) or Smith-Lemli-Opitz syndrome (SLOS) received follow-up services at state-approved Prenatal Diagnosis Centers (PDCs). Detailed reports of services and diagnostic information were linked in a database to the original screening results.


RESULTS
A total of 26 323 women received follow-up ultrasound services at the PDCs in the study time period. Of these women, 1085 (4.1%) were identified as having fetuses with significant structural abnormalities, other than NTDs (n = 207) or AWDs (n = 254). In addition to the structural abnormalities, 225 cases of fetal demise, 4 molar pregnancies, 15 cases of twin-to-twin transfusion, and 92 cases with placental abnormalities were identified.


CONCLUSIONS
While Prenatal Screening Programs do not explicitly screen for structural abnormalities other than NTDs and AWDs, clearly many other structural abnormalities may be associated with a screen-positive status. Thus, the detection of these additional structural defects can be considered an ancillary program benefit.
Kazerouni
N Neely
NN
Genetic Disease Screening Program, California Department of Public Health, 850 Marina Bay Parkway, Richmond, CA 94804, USA. neely.kazerouni@cdph.ca.gov
Currier
Robert J
RJ
Hodgkinson
Christina
C
Goldman
Sara
S
Lorey
Fred
F
Roberson
Marie
M
D000328:Adult; D015415:Biomarkers / Q000097:blood; D002140:California / Q000453:epidemiology; D000013:Congenital Abnormalities / Q000175:diagnosis* / Q000453:epidemiology / Q000517:prevention & control; D005260:Female; D006801:Humans; D008403:Mass Screening / Q000379:methods*; D011247:Pregnancy / Q000097:blood*; D011261:Pregnancy Trimester, First; D011296:Prenatal Diagnosis; D035141:Voluntary Programs
D015415:Biomarkers