Zoppi 2001.
| Clinical features and settings | Routine screening | |
| Participants | 10,001 participants Italy ‐ genetic diagnosis centre May 1996 to unspecified date Pregnant women Median age 33 years (14‐48 years) Singleton pregnancies 10 to 14 weeks' gestation |
|
| Study design | Prospective cohort | |
| Target condition and reference standard(s) | Down's syndrome: 64 cases Reference standards: amniocentesis, CVS or follow‐up to birth |
|
| Index and comparator tests | Maternal age First trimester NT (FMF methods) Risk cut‐points of 1:100, 1:200 and 1:300 |
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| Follow‐up | Outcome obtained from women themselves. 1422 patients (11%) with no data on follow‐up outcome and 202 patients with miscarriages were excluded from the study | |
| Aim of study | To examine the distribution of fetal NT thickness in normal and abnormal fetuses in Sardinia and to determine its effectiveness as a screening tool | |
| Notes | Study design unclear (maybe a case‐control study) | |
| Table of Methodological Quality | ||
| Item | Authors' judgement | Description |
| Representative spectrum? All tests | Yes | Routine screening of typical pregnant population |
| Acceptable reference standard? All tests | Yes | Karyotyping or follow‐up to birth |
| Partial verification avoided? All tests | Unclear | Unclear if all women received a reference standard |
| Differential verification avoided? All tests | No | Choice of reference standard depended on index test results |
| Incorporation avoided? All tests | Yes | Reference standard was independent of the index test |
| Reference standard results blinded? All tests | No | Reference standard interpreted with knowledge of index test results |
| Index test results blinded? All tests | Yes | Index test interpreted without knowledge of reference standard results |
| Relevant clinical information? All tests | Yes | Information available as would be in standard clinical practice |
| Uninterpretable results reported? All tests | Yes | NT could not be measured in 25 (0.2%) of cases |
| Withdrawals explained? All tests | No | No details of withdrawals given |
AFP:alpha‐fetoprotein ßhCG: beta human chorionic gonadotrophin CVS: chorionic villus sampling DELFIA: dual labelled time resolved fluorescent assay DVPI: ductus venosus pulsivity index FMF: frontomaxillary facial hCG: human chorionic gonadotrophin NT: nuchal translucency PAPP‐A: pregnancy‐associated plasma protein A PIGF: placental growth factor uE3: unconjugated oestriol