Recurrent pregnancy loss evaluation combined with 24-chromosome microarray of miscarriage tissue provides a probable or definite cause of pregnancy loss in over 90% of patients.
Level 4 - case-series / case-control
Single-center prospective single-arm diagnostic cohort study without a control group
PubMed 29538673 · doi:10.1093/humrep/dey021
What was done
Single-center prospective cohort study of 100 women (aged 26–45) with two or more pregnancy losses evaluated at a private clinic between 2014 and 2017. All participants received a standard American Society for Reproductive Medicine (ASRM) workup (parental karyotyping, pelvic/uterine assessment, antiphospholipid antibodies, TSH, prolactin, and HbA1c) alongside 24-chromosome microarray analysis of products of conception from their second or subsequent miscarriage. Cases with maternal cell contamination or incomplete evaluations were excluded. A cost-efficiency model was also evaluated.
What was found
A probable or definite cause of loss was identified in 95/100 (95%) patients using the combined approach. Standard ASRM testing alone identified a probable cause in 45/100 (45%) patients, whereas 24-chromosome microarray of miscarriage tissue alone detected abnormalities in 67/100 (67%) patients. Only 5/100 (5%) patients had unexplained losses (euploid loss with normal ASRM workup). Cost modeling indicated that initial microarray analysis of miscarriage tissue followed by reflex ASRM testing for euploid losses reduced overall diagnostic costs by 50%.
Why it matters
Incorporating chromosomal microarray of miscarriage tissue substantially increases diagnostic yield in recurrent pregnancy loss compared with standard parental and anatomical workups alone, and testing tissue first may reduce overall evaluation costs.
Limits
Single-center design with a modest sample size (n = 100) recruited from a private specialty clinic, limiting generalizability. Lack of a control group. Maternal age ranged widely (26–45 years), which heavily influences baseline aneuploidy rates. The abstract notes incomplete follow-up on subsequent pregnancy outcomes, precluding assessment of clinical management impact or subsequent live-birth rates.
Cited by
- contradicts In approximately 80% of recurrent pregnancy loss cases, all diagnostic test results are normal, while roughly 20% show an identifiable cause.