Lee 2015.
| Study characteristics | |||
| Patient sampling | Study design: blinded, prospective cohort study. Participants: pregnant women selected at high risk of fetal aneuploidy presenting for invasive testing. Inclusion criteria: pregnant women who were > 18 years old and gestational age > 8 weeks, multifetal and singleton pregnancies. Exclusion criteria: not reported. | ||
| Patient characteristics and setting | Number enrolled: 93 pregnant women. Number available for 2 x 2 table: 92 pregnant women (subgroup of 99%). Setting: 1 centre at Asan Medical Centre, Seoul, Korea. Recruitment period: August 2014 to February 2015. Ethnicity: Asian. Median gestational age (range): 21.1 (8.2 to 31.1) weeks. Median maternal age (range): 32 (21 to 43) years. Relevant tests carried out prior to index test: ultrasonography (nuchal translucency measurement) or biochemical screening or both. Language of the study: English. | ||
| Index tests | gNIPT by MPSS on Illumina MiSeq sequencer in 12‐plex or on NextSeq 500 sequencer in 96‐plex. Median fetal fraction DNA (range): male fetus only: 10.2% (3.85% to 25.0%). Blood samples for gNIPT were collected before reference standard. Cutpoint: 1) positive if Z score > 4 (intermediate risk if Z score between 2.5 and 4) for T21 and T18. 2) positive if Z score > 2.8 (intermediate risk if Z score between 1.9 and 2.8) for T13. Commercial test: MomGuard™ by LabGenomics. |
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| Target condition and reference standard(s) | Target conditions: T21, T18 and T13. SCA were also assessed but no case was found. Reference standards: fetal karyotype of chorionic villi, amniotic fluid, cord blood or products of conception or neonatal karyotype from peripheral blood. | ||
| Flow and timing | Blood samples for gNIPT were obtained just prior to the invasive procedure (reference standard).
gNIPT was a second‐tier test.
1/93 samples failed during sequencing process for low fetal fraction DNA (no gNIPT result). No repeated test reported. |
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| Comparative | |||
| Aim to study | To evaluate the performance of MomGuard™, a gNIPT, for detecting T21, T18, T13, and SCA abnormalities recently developed in Korea. | ||
| Funding source or sponsor of the study | Study funded by a grant from the LabGenomics Clinical Research Institute. | ||
| Informations about the authors contacted | No need for further contact. | ||
| Notes | |||
| Methodological quality | |||
| Item | Authors' judgement | Risk of bias | Applicability concerns |
| DOMAIN 1: Patient Selection | |||
| Was a consecutive or random sample of patients enrolled? | No | ||
| Was a case‐control design avoided? | Yes | ||
| Did the study avoid inappropriate exclusions? | No | ||
| High | Low | ||
| DOMAIN 2: Index Test MPSS | |||
| Were the index test results interpreted without knowledge of the results of the reference standard? | Yes | ||
| If a threshold was used, was it pre‐specified? | Yes | ||
| Low | Low | ||
| DOMAIN 3: Reference Standard | |||
| Is the reference standards likely to correctly classify the target condition? | Yes | ||
| Were the reference standard results interpreted without knowledge of the results of the index tests? | Yes | ||
| Low | Low | ||
| DOMAIN 4: Flow and Timing | |||
| Was there an appropriate interval between index test and reference standard? | Yes | ||
| Did all analysed patients receive the reference standard? | Yes | ||
| Were all patients included in the analysis? | No | ||
| High | |||