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Serum PAPP‐A and free β‐hCG are first‐trimester screening markers for down syndrome
Author(s) -
Brambati B.,
Tului L.,
Bonacchi I.,
Shrimanker K.,
Suzuki Y.,
Grudzinskas J. G.
Publication year - 1994
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.1970141106
Subject(s) - medicine , aneuploidy , confidence interval , pregnancy associated plasma protein a , down syndrome , gestation , receiver operating characteristic , gynecology , pregnancy , obstetrics , trisomy , chorionic villus sampling , first trimester , biology , biochemistry , genetics , psychiatry , gene , chromosome
Serum measurements of pregnancy‐associated plasma protein A (PAPP‐A) and the free β‐human chorionic gonadotrophin (hCG) subunit were made in 13 women with Down syndrome (DS) pregnancies and six other women with fetal aneuploidy ascertained at chorionic villus sampling (CVS), as well as 89 women with contemporaneous normal control pregnancies. Median serum PAPP‐A measurements (0·31 MOM, 95 per cent confidence interval (CI) 0·22–0·65 vs. normal 1·06, 95 per cent CI 0·89–1·20) were lower and free β‐hCG subunit measurements (1·13 MOM, 95 per cent CI 0·93–2·63 vs. normal 0·91, 95 per cent CI 0·79–1·03) were higher at statistically significant levels. Receiver operator characteristic (ROC) curves showed that the highest sensitivity for detection, 71·2 per cent (95 per cent CI 54·7–87·6 per cent), was for depressed PAPP‐A levels; the combination of low serum PAPP‐A levels, maternal age, and elevated free β‐hCG levels yielded a detection rate of 78·9 per cent (95 per cent CI 64·9–92·8 per cent) of the affected pregnancies at 8–12 weeks' gestation.