The evidence behind the BioBloom test menu

Karyotyping and FMR1 (fragile-X) premutation testing are guideline-recommended parts of the premature-ovarian-insufficiency and reduced-ovarian-reserve workup.

Limitations: These tests identify risk factors, not certainties. The FMR1 premutation is incompletely penetrant: it raises the risk of ovarian insufficiency but does not predict whether or when it will occur.

cfDNA/NIPT is a highly accurate screening test for the common trisomies. Microarray and QF-PCR are first-line diagnostics on invasive samples, with prenatal exome adding yield in selected cases.

Limitations: cfDNA/NIPT is a screening test, not a diagnosis: a high-risk result requires confirmatory invasive testing, and performance for microdeletions is more limited than for the common trisomies.

Y-chromosome (AZF) microdeletion testing and CFTR analysis in CBAVD are well-established diagnostics. Sperm DNA fragmentation and sperm FISH are useful adjuncts, best interpreted alongside the wider workup.

Limitations: AZF and CFTR testing are diagnostic; sperm DNA fragmentation and sperm FISH are adjuncts with no single agreed cut-off. Thresholds are assay-specific, professional bodies differ on when to use them, and a result does not by itself determine treatment.

Expanded carrier screening is the ACMG-endorsed standard for identifying reproductive risk. Embryo polygenic scoring and immunogenetic adjuncts are active areas of research, best used within a specialist context.

Limitations: KIR-HLA-C is described by researchers in the field as too early for clinical intervention (Moffett 2016), and the ALIFE2 randomised trial found heparin did not improve live birth in inherited thrombophilia with recurrent loss. Embryo polygenic risk scoring has no established clinical utility and is not a routine test.

PGT-M and PGT-SR are well-established for monogenic disease and structural rearrangements. PGT-A and non-invasive PGT-A are best used selectively, with the clearest signal in older patients per transfer.

Limitations: Randomised trials have not shown PGT-A to improve cumulative live birth in unselected patients: it selects between existing embryos rather than improving them. niPGT-A from spent culture medium is investigational, and its concordance with trophectoderm biopsy varies between laboratories.

A Lactobacillus-dominant endometrium and the absence of chronic endometritis are increasingly linked to better implantation, with randomised outcome data still maturing.

Limitations: Most evidence comes from small, low-biomass sequencing cohorts, and randomised evidence that treating dysbiosis improves live birth is not yet available. A dysbiotic result describes a bacterial pattern; it is not a diagnosis of infection.