Embryo Prioritization Report — Physician Summary

PGT-A reanalysis · viability genes

Cycle: Nadia and Theo IVF cohort
Clinic: Partner clinic
PGT laboratory: Reticular lab
Report date: 2026-05-20
Analysis: PGT-A reanalysis + parental WGS
Cohort: 5 included · 1 excluded
Genome build: GRCh38
Report ID: reticular-demo-embryo-core-report

COHORT RESULT:3 euploid · 1 low-level mosaic · 1 aneuploid — recommended transfer order below

Existing PGT-A results were reanalyzed with parental whole-genome sequencing (no additional biopsy) to add single-gene viability findings to the chromosome and morphology data. The recommended order was reviewed by Reticular's genetic counselor; the transfer decision remains with the treating clinician and patient.

Test results — recommended transfer order

Priority	Embryo	PGT-A	Embryo viability gene risks	Morphology	Clinical assessment
1	Embryo 4Embryo E-4AA-7F3C	Euploid	No known risks	4AA · Day 5	Chromosomally normal (euploid). No high-priority inherited findings.
2	Embryo 2Embryo E-5AB-2A91	Euploid	Moderate riskF5 c.1601G>A (Factor V Leiden)	5AB · Day 5	This embryo is chromosomally normal (euploid) with a moderate-risk F5 finding. The variant is known, but the pregnancy-loss evidence is limited and context-dependent.
3	Embryo 7Embryo E-5BA-4C26	Euploid	Higher riskTUBB8 c.686T>C (p.Val229Ala)	5BA · Day 5	This embryo is chromosomally normal (euploid) with a higher-risk TUBB8 finding that warrants reproductive genetics review.
4	Embryo 6Embryo E-4BA-8D42	Low-level mosaic	Higher riskTUBB8 c.686T>C (p.Val229Ala)	4BA · Day 5	This embryo has a low-level mosaic finding and a viability-gene result that warrants review, which increases uncertainty compared with euploid embryos.
5	Embryo 5Embryo E-3BB-1C57	Aneuploid	Higher risk	3BB · Day 6	Chromosome testing detected aneuploidy in this embryo, which is associated with a low chance of implantation.
Excluded	Embryo 8Embryo E-3BB-6B18	—	—	Not reported	Excluded from fit after embryo-level QC review.

Reportable viability variants — clinical detail

TUBB8 c.686T>C (p.Val229Ala) — heterozygous, PATHOGENIC

Detected in Embryo 7, Embryo 6 · Maternal-effect / oocyte biology

Definitive riskoocyte/zygote/embryo maturation arrest

Gene function: TUBB8 encodes the β-tubulin isotype that forms the oocyte meiotic spindle. Pathogenic variants disrupt microtubule assembly and spindle function, impairing oocyte maturation, fertilization, and the embryo's first cleavage divisions.

Research evidence: TUBB8 variants were first described in dominant oocyte maturation arrest with functional microtubule disruption (Feng et al., NEJM 2016); later series broadened the phenotype to fertilization failure and pre-implantation embryonic arrest (Zheng et al., 2021). p.Val229Ala is recorded as pathogenic in ClinVar. TUBB8 is the most frequently implicated single gene in oocyte-maturation-arrest cohorts.

This cohort: A pathogenic TUBB8 variant was detected in a reproductive-biology gene with strong evidence for oocyte maturation problems and early embryo arrest. The finding informs prioritization and does not exclude transfer on its own.

F5 c.1601G>A (Factor V Leiden) — heterozygous, PATHOGENIC

Detected in Embryo 2 · Autosomal dominant thrombophilia variant

No established risk linkfor recurrent miscarriage — the variant itself is definitively pathogenic for thrombophilia; its link to pregnancy loss is what remains unproven

Gene function: F5 encodes coagulation factor V. The Factor V Leiden variant (c.1601G>A) causes activated protein C resistance, the most common inherited thrombophilia.

Research evidence: Factor V Leiden is a well-characterized thrombophilia allele; its association with pregnancy loss is inconsistent across studies and strongest for later loss in the maternal genotype. Evidence linking an embryonic F5 genotype to viability is limited (GeneReviews; RPL meta-analyses) — reported as context, not an exclusion criterion.

This cohort: F5 Factor V Leiden was detected. The variant classification is pathogenic, but the evidence connecting this finding to embryo viability or pregnancy loss is limited and context-dependent. The finding informs prioritization and does not exclude transfer on its own.

Thrombophilia reporting: if transferred, the future child is a lifelong heterozygous Factor V Leiden carrier (modestly elevated venous-thromboembolism risk in adulthood). The variant was inherited from a parent; if the egg source carries it, standard maternal VTE-risk assessment in pregnancy applies.

Risk-evidence categories follow the ESHRE FeRGI gene–disease scoring (0–18; Limited 3–8, Moderate 9–12, Strong 13–15, Definitive 16–18): TUBB8 scores 17/18 for oocyte/zygote/embryo maturation arrest; F5 scores 2/18 for recurrent miscarriage.

Method — how the transfer order is determined

Chromosome result (PGT-A) sets the tier: euploid, then mosaic, then aneuploid. This is a hard floor — no other factor moves an embryo above a euploid.
Reportable viability-gene findings order embryos within the same chromosome tier.
Gardner morphology breaks any remaining ties.

PGT-A results are interpreted as reported by the originating laboratory; mosaic classification thresholds vary between laboratories and platforms. Every recommendation is reviewed by a genetic counselor before release.

Limitations

Whole-chromosome aneuploid embryos rarely lead to a healthy live birth (rare exceptions: undetected mosaicism, segmental aneuploidy).
Single-gene viability findings are prioritization context, not stand-alone exclusions. Gene–disease validity is tiered per finding; per-transfer positive predictive values are not yet established.

Genetic counseling: included with this report — patients schedule directly at cal.com/team/reticular-bio, and the counselor is available to the clinical team for case review.

References

Appendix A — genes evaluated in the viability screen

Egg maturation & division (18)

TUBB8, PATL2, TRIP13, TACC3, CDC20, KIF11, TUBA4A, KIF18A, HAUS6, LHX8, TBPL2, ZFP36L2, PABPC1L, MLH3, KASH5, LHCGR, SYCP3, CCNB3

Fertilization (10)

ZP1, WEE2, PLCZ1, ZP2, ZP3, ZP4, ASTL, ACTL7A, ACTL9, IZUMO1R

The embryo's first days (12)

PADI6, TLE6, NLRP5, NLRP2, BTG4, CHEK1, OOEP, KPNA7, MOS, FBXO43, MEI4, PANX1

Molar pregnancy (5)

NLRP7, KHDC3L, MEI1, TOP6BL, REC114

Pregnancy survival — Human Intolerome, Known tier, prenatal-onset (182)

AAAS, ABCB4, ABCC6, ACO2, ACTA1, ACTG2, ADAMTS2, ADGRG6, ADSL, AGK, AGT, AGTR1, AK2, AKT2, ALDH18A1, ALG1, ALG8, ALG9, AMACR, AMT, ANK2, ANOS1, ANTXR2, ARHGAP31, ARID1B, ASCC1, ASNS, ASXL1, ATP6V1E1, ATP7A, B3GAT3, B4GAT1, BCKDHB, BCOR, BLTP1, BMPR2, BUB1B, C1QBP, CCBE1, CEP290, CHRND, CHRNE, CILK1, COG7, COL11A1, COL1A1, COL1A2, COX15, CRB2, CSPP1, CTSA, CYP26B1, CYP27A1, DLD, DNAH5, DNM2, DPAGT1, DYNC2H1, DYNC2LI1, EBP, ENG, ETFDH, EVC2, EXTL3, F10, F7, FAM111A, FANCL, FBN2, FLNA, FRAS1, G6PC1, GATA4, GLDN, GLE1, GLI2, GLI3, GLUL, GNAS, GNPAT, GNPTAB, GPC3, GPI, GPX4, GRIP1, GUCY2D, HADHA, HADHB, HBB, HCCS, HNF1B, HRAS, HSD17B10, HSPD1, HYLS1, IFT122, IFT80, IKBKG, ITGA8, ITGB4, JAM3, KCNH2, KCNJ2, KIAA1109 (BLTP1), KIF7, KMT2D, L1CAM, LONP1, MAGED2, MAGEL2, MECOM, MECP2, MED12, MIPEP, MKS1, MTOR, MYBPC3, MYH7, NAA10, NDUFAF5, NDUFB11, NDUFV1, NEK1, NEK8, NEU1, NPC2, NPHP3, NPHS1, NSDHL, OBSCN, OFD1, OTX2, P3H1, PHGDH, PIEZO1, PIGA, PIGW, PITX1, PLD1, POMGNT1, PORCN, PPIB, PRRX1, PTH1R, PTPN11, RAG1, RBM10, RET, RFT1, RIPK4, RIT1, RLIM, RMND1, SBDS, SCN5A, SCO2, SLC26A2, SOX18, SOX9, SPINK5, TAZ, TBX1, TBX19, TCTN2, THSD1, TMEM126B, TMEM231, TMEM67, TRIP11, TRPV4, TSEN54, TSPYL1, TTC37, TTC7A, TTN, TUFM, UBR1, WASHC5, WDR35, WDR73, WNT7A, WWOX

Survival genes, postnatal-onset — Known tier, reported as secondary findings (377)

ABAT, ABCA3, ACADM, ACE, ADAMTSL2, AIMP1, AKR1D1, ALDH1A3, ALDH7A1, ALPL, AMER1, ANK1, AP1S1, AP4M1, ARG1, ARHGDIA, ARV1, ARX, ASAH1, ASPA, ASS1, ATP6V1B1, ATP6V1B2, ATRX, B3GALT6, BCKDHA, BMPER, BOLA3, BRAT1, CANT1, CARD11, CASK, CCDC115, CD3D, CD3E, CD3G, CD40LG, CD96, CDKN1C, CDSN, CHAT, CHST14, CIT, CLCN7, CLMP, CLPB, COA6, COA8, COG6, COL2A1, COL3A1, COLEC10, COQ2, COQ9, COX10, CPOX, CPS1, CRLF1, CRPPA, CRTAP, CRYAB, CSF3R, CXCR4, CYP11B1, CYP11B2, CYP7B1, D2HGDH, DAG1, DBT, DDR2, DGUOK, DHCR7, DHDDS, DHFR, DIS3L2, DKC1, DLL3, DNAI1, DNAJC19, DNM1L, DOLK, DPM2, DPYD, DYNC2I1, DYNC2I2, EARS2, ECEL1, EDA, EDN3, EDNRB, EFEMP2, EIF2AK3, ELAC2, ELOVL4, EMG1, ENPP1, EPB41, EPCAM, EPG5, ERBB3, ERCC1, ESCO2, ETFB, ETHE1, EXOSC3, EXOSC8, EYA1, FANCB, FARS2, FBLN5, FBN1, FBP1, FBXL4, FCN3, FERMT3, FGFR3, FH, FHL1, FIG4, FKRP, FLAD1, FOXF1, FOXP3, FOXRED1, GALC, GATA6, GBA1, GBE1, GCSH, GFAP, GGCX, GLDC, GLIS3, GNAO1, GRIN1, GTPBP3, GUCY2C, GYS1, HAAO, HADH, HAX1, HELLS, HIBCH, HSPG2, IER3IP1, IFT43, IFT81, IGHMBP2, IL2RG, ISCA2, ITCH, ITGA3, ITGA6, ITPA, IVD, KCNA1, KCNJ10, KCNJ5, KCNT1, KDSR, KIF5A, KLHL41, KRT1, KRT10, KYNU, LAGE3, LAMA3, LAMC2, LARGE1, LBR, LGI4, LIAS, LIFR, LIPA, LIPT1, LIPT2, LMBRD1, LRPPRC, MANBA, MAPRE2, MBTPS2, MCCC2, MDH2, MESP2, MKKS, MLYCD, MMUT, MOCS1, MOCS2, MPC1, MPDU1, MPI, MPV17, MRPS22, MRPS34, MTM1, MTO1, MUSK, MYLK2, MYO18B, MYO5B, NAGA, NAGS, NAXE, NDUFA1, NDUFA11, NDUFAF1, NDUFAF2, NDUFAF3, NDUFAF4, NDUFB3, NDUFS1, NDUFS2, NDUFS4, NDUFS6, NEB, NEK9, NNT, NOTCH2, NR1H4, NTRK1, NUP62, OCLN, ORAI1, OSGEP, OSTM1, OTC, OTULIN, OXCT1, PAM16, PAX6, PC, PCCA, PCCB, PDGFRB, PDHB, PDHX, PDP1, PDSS2, PEPD, PET100, PEX10, PEX12, PEX13, PEX14, PEX16, PEX19, PEX2, PEX3, PEX5, PEX6, PEX7, PFKM, PHF8, PIGO, PIGV, PIGY, PIP5K1C, PKD1L1, PKD2, PKHD1, PKLR, PLA2G6, PLEC, PLPBP, PNPO, POLA1, POMC, POMGNT2, POMT2, POU1F1, PRPS1, PSAP, PTF1A, PUF60, PYGM, RAB27A, RAD51C, RAG2, RARS2, RBM8A, RFX6, RPSA, RRM2B, RTTN, RXYLT1, RYR1, SALL1, SAMHD1, SCN2A, SCN4A, SCNN1B, SCNN1G, SCO1, SDHA, SDHAF1, SDHD, SETBP1, SFTPA2, SFTPB, SGPL1, SH3PXD2B, SIK1, SIX3, SLC16A2, SLC19A3, SLC25A1, SLC25A19, SLC25A20, SLC25A22, SLC25A24, SLC25A26, SLC25A4, SLC25A46, SLC35D1, SLC39A14, SLC46A1, SLC52A3, SLC5A7, SLC6A9, SMARCAL1, SMARCD2, SMCHD1, SMG9, SMN1, SNRPB, SOX3, SPECC1L, SPEG, SPINT2, STAMBP, STAR, STAT1, STAT2, STIM1, STRA6, SUCLG1, SUMF1, SUOX, TBC1D24, TBCE, TBX20, TCIRG1, TCN2, TFAP2A, TFAP2B, TGDS, TIMMDC1, TINF2, TJP2, TK2, TMEM165, TMEM70, TOE1, TP53RK, TP63, TPI1, TPM3, TPRKB, TRAIP, TREX1, TRMT10C, TRMU, UBA1, UFM1, VDR, VKORC1, VMA21, VPS33B, VPS45, WARS2, XIAP, YARS2, ZIC2, ZIC3, ZMPSTE24, ZNF148

Blood clotting & pregnancy support (12)

F5, F2, SERPINC1, PROC, PROS1, ANXA5, NOS3, SERPINE1, F13A1, THBD, FGA, FLT1

616 genes listed. The survival groups are the “Known” evidence tier of the published 934-entry Human Intolerome (RPLdb); its Emerging and Candidate tiers (352 further genes) are also sequenced and reviewed but not listed individually. How findings act: the egg-biology groups (maturation, fertilization, first days, molar) act through the egg source's own genotype — a single copy for dominant genes such as TUBB8, both of her copies for recessive maternal-effect genes such as TLE6, PADI6, WEE2, or NLRP7 — while the survival groups act through the embryo's inherited genotype, requiring both partners to carry the same gene for a 1-in-4 embryo risk. Parental-infertility gene groups (ovarian reserve, hormone signaling, sperm) apply to the couple's pre-conception panel.