Outcomes of pregnancies with more than one positive prenatal screening result in the first or second trimester.
OBJECTIVE
To describe adverse outcomes and fetal abnormalities in women with a positive prenatal screening result for more than one disorder.


METHODS
Study participants were drawn from a population of 452 901 women pregnant with singletons entering the California Prenatal Screening Program in their first-trimester. Risk assessment was provided for trisomy 21 and trisomy 18 in the first-trimester and trisomy 21, trisomy 18, neural tube defects, and Smith-Lemli-Opitz syndrome in the second-trimester. Inclusion in this study required positive screening for more than one of the screened conditions and a completed outcome of pregnancy survey.


RESULTS
A total of 874 women met our study inclusion criteria. Over 25% of these pregnancies had a fetus with a chromosomal abnormality. Of the euploid pregnancies, 6.9% had a fetus with a major birth defect. Of the pregnancies with a fetus with neither a chromosomal abnormality nor a major birth defect, 9.3% ended in fetal demise. Overall, more than 50% of women with multiple positive screening results had either a fetus with a birth defect or a poor pregnancy outcome.


CONCLUSIONS
Although it is rare to screen positive for more than one condition, such results indicate a very high risk for chromosomal abnormality, fetal demise, or structural abnormality.
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA.|Department of Pediatrics, University of California San Diego, La Jolla, CA, USA.
R J
RJ
Baer
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA.
R J
RJ
Currier
Department of Obstetrics, Gynecology & Reproductive Sciences, University of California San Francisco, San Francisco, CA, USA.
M E
ME
Norton
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA.
M C
MC
Flessel
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA.
S
S
Goldman
Division of Maternal Fetal Medicine, University of Hawaii, Honolulu, HI, USA.
D
D
Towner
Genetic Disease Screening Program, California Department of Public Health, Richmond, CA, USA.|Department of Epidemiology and Biostatistics, University of California San Francisco, San Francisco, CA, USA.
L L
LL
Jelliffe-Pawlowski
D000328:Adult; D002140:California / Q000453:epidemiology; D025063:Chromosome Disorders / Q000453:epidemiology*; D005260:Female; D006801:Humans; D062145:Maternal Serum Screening Tests / Q000706:statistics & numerical data*; D011247:Pregnancy; D011256:Pregnancy Outcome / Q000453:epidemiology*; D011261:Pregnancy Trimester, First; D011262:Pregnancy Trimester, Second; D012189:Retrospective Studies