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- W1967952008 abstract "Abnormal karyotype and congenital viral infection both cause fetal abnormality. We investigated clinical circumstances when viral PCR studies should be performed at indicated genetic amniocenteses (AC). Women having midtrimester AC were prospectively studied. Amniotic fluid from consecutive AC was karyotyped and tested for adeno-, cytomegalo-, respiratory syncitial-, entero-, herpes simplex-, Ebstein-Barr-, and parvovirus B19 by multiplex PCR with multiple appropriate controls. Ultrasound findings were coded as normal, or showing regional fetal anomaly/aneuploidy markers in: head/neck, thorax, cardiovascular, abdomen, renal or musculoskeletal regions yielding 36 abnormality categories. Relationships between these categories and karyotype/PCR results were tested by Chi-square. 1202 patients had AC (maternal age 488 (40.6%), anomaly 261 (21.7%), serum biochemistry 213 (17.7%), aneuploidy markers 178 (14.8%), familial disease 39 (2.5%) others 25 (2%)). Abnormal karyotype in 57 (4.7%) and PCR+ in 97 (8.1%), were both more frequent with abnormal sonogram (p<0.005). Karyotype was abnormal for 13/36 abnormality categories, PCR+ for seven. Ventriculomegaly/hydrocephaly, anencephaly, echogenic liver and clubfoot were specifically associated with PCR+. Cystic hygroma, abnormal skull, nuchal thickening, choroid plexus cyst, pleural effusion, cardiac defect, omphalocele, abnormal hand position, isolated ascites, were exclusively associated with abnormal karyotype. Both tests were abnormal with hydrops and skeletal deformity (p<0.001). Multiple anomalies or aneuploidy markers were associated with abnormal karyotype (p<0.007 for both), but not PCR+. When midtrimester sonogram is abnormal, prevalence of abnormal karyotype and/or viral genome in amniotic fluid is increased. However, an abnormal karyotype is more likely the underlying cause, particularly if multiple abnormalities/markers are observed. Amniotic fluid viral PCR is indicated for specific recognizable viral syndromes, hydrops, neural tube defect, echogenic liver and club foot." @default.
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- W1967952008 date "2006-12-01" @default.
- W1967952008 modified "2023-09-27" @default.
- W1967952008 title "When are amniotic fluid viral PCR studies indicated in prenatal diagnosis?" @default.
- W1967952008 doi "https://doi.org/10.1016/j.ajog.2006.10.544" @default.
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