Premium
Outcomes of pregnancies with more than one positive prenatal screening result in the first or second trimester
Author(s) -
Baer R. J.,
Currier R. J.,
Norton M. E.,
Flessel M. C.,
Goldman S.,
Towner D.,
JelliffePawlowski L. L.
Publication year - 2015
Publication title -
prenatal diagnosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.956
H-Index - 97
eISSN - 1097-0223
pISSN - 0197-3851
DOI - 10.1002/pd.4682
Subject(s) - trisomy , obstetrics , fetus , pregnancy , medicine , abnormality , aneuploidy , gynecology , prenatal diagnosis , population , chromosomal abnormality , neural tube defect , karyotype , biology , genetics , chromosome , psychiatry , environmental health , gene
Objective To describe adverse outcomes and fetal abnormalities in women with a positive prenatal screening result for more than one disorder. Study design 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. Conclusion 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. © 2015 John Wiley & Sons, Ltd.