Reticular · Embryo Report · Core

Sample report

Nadia and Theo's embryo report

5 embryos reviewed · chromosome results and viability genes

Every embryo, at a glance.

No known risks
Carrier
Moderate risk
Higher risk
Not assessed

Chromosome result and viability-gene review for each embryo
Result	Embryo 4(E-4AA-7F3C)	Embryo 2(E-5AB-2A91)	Embryo 7(E-5BA-4C26)	Embryo 6(E-4BA-8D42)	Embryo 5(E-3BB-1C57)
Chromosomes	Euploid	Euploid	Euploid	Low-level mosaic	Aneuploid
Viability genes	Carrier No risk finding	Moderate risk TAZ(TAFAZZIN) c.646G>A	Higher risk TUBB8c.686T>C	No known risks No finding	Not assessed
Carrier findingsOne copy of a recessive gene — no effect on the embryo	DHCR7c.964-1G>Cone copy · no effect
Embryo grade	4AADay 5 blastocyst	5ABDay 5 blastocyst	5BADay 5 blastocyst	4BADay 5 blastocyst	3BBDay 6 blastocyst
Sex	Female46,XX	Male46,XY	Male46,XY	Female	Male

Where the chromosome result already explains the risk, viability genes are not separately assessed. Carrier findings have no effect on the embryo and are never ranked. Sex is reported, never ranked.

Clinical summary

Embryo 4 is the best fit to transfer first: euploid, with no reportable pregnancy-loss gene finding.

Three of these five embryos are chromosomally normal, and only Embryo 4 is also clear on the viability genes. The order below follows the chromosome result first, then the viability-gene review, then grade.

A suggested order, not a transfer decision. A finding does not mean an embryo will fail, and a clear result does not guarantee a transfer will succeed — grade, your history, and your clinic's judgment all belong in the call. Nothing either of you did caused these findings.

Inherited variants

What your embryos inherited.

Both partners were sequenced across the panel. Each variant is listed once, with the embryos it was found in and which parent it came from. Reportable findings enter the suggested order; carrier findings never do.

Reportable findings

Enter the suggested order

TUBB8
Published reproductive evidence
Higher risk
A published TUBB8 variant was identified in a gene with strong evidence for oocyte maturation problems and early embryo arrest, so the finding may be relevant to reproductive counseling. Maternal-effect / oocyte biology.
Found in: Embryo 7 (E-5BA-4C26).
Who carries it
- Nadia
  Egg source
  c.686T>C (p.Val229Ala)
  Known to be harmful (pathogenic) · acts in her eggs
  Higher risk
- Theo
  Sperm source
  Not detected
  No reportable variant in this gene
  Not detected
The variant
TUBB8 c.686T>C (p.Val229Ala)
PathogenicPublished reproductive evidence
Evidence
TUBB8 c.686T>C (p.Val229Ala) is listed in ClinVar as pathogenic for oocyte maturation defect 2. The cited NEJM report describes dominant oocyte maturation defects and functional disruption of microtubules.
What it means here
This is a published variant in a gene with stronger reproductive evidence, and it may affect early embryo development. Your Reticular genetic counselor reviews what it means for this embryo's place in the ranking.
What it doesn't mean
It doesn't predict a future child's health — TUBB8 acts on the egg, not the child — and it doesn't guarantee this embryo will fail. It flags a higher chance of early arrest to weigh alongside your chromosome result and embryo grade.
References
- ClinVar: TUBB8 p.Val229Ala
- Feng et al., NEJM 2016
TAZ
Moderate pregnancy-loss evidence
Moderate risk
This embryo inherited a changed copy of TAZ from the egg source. TAZ sits on the X chromosome, and this embryo is male — so it has just one copy of the gene, with no second copy to make up for the change. Two changed copies are not needed here. The change causes Barth syndrome, which affects the heart muscle and the immune system, and families who carry it report more male pregnancy losses and stillbirths than expected. X-linked · one changed copy, inherited from the egg source.
Found in: Embryo 2 (E-5AB-2A91).
Who carries it
- Nadia
  Egg source
  c.646G>A (p.Gly216Arg)
  Known to be harmful (pathogenic) · one copy · she has a working second copy
  Carrier
- Theo
  Sperm source
  Not detected
  No reportable variant in this gene
  Not detected
The variant
TAZ (TAFAZZIN) c.646G>A (p.Gly216Arg)
PathogenicModerate pregnancy-loss evidence
Evidence
TAZ is on the Human Intolerome's list of genes a pregnancy needs to keep growing, which is why this panel screens it. This change is recorded as harmful in ClinVar by several laboratories. Barth syndrome itself is well established; the link to pregnancy loss rests on family reports — male pregnancy loss, stillbirth and serious newborn illness in six of nineteen UK families — moderate evidence, one tier below the strongest.
What it means here
A published variant in an X-linked gene with moderate evidence for pregnancy loss; a male embryo has no second copy of this gene. It places this embryo after embryos without a finding and is not a reason on its own to set the embryo aside.
What it doesn't mean
It doesn't mean this embryo will fail. It flags a moderately higher chance of loss later in pregnancy, and a serious heart and immune condition after birth, to weigh alongside the chromosome result and grade with your counselor. It says nothing about the egg source's own health.
References

Carrier findings

No effect on the embryo · never ranked

DHCR7
Established gene · carrier finding
Carrier · no effect on this embryo
This embryo carries one changed copy of DHCR7 and one normal copy, inherited from the sperm source. Two changed copies cause Smith-Lemli-Opitz syndrome; one copy has no effect. Because the egg source does not carry a DHCR7 change, this embryo cannot be affected. Autosomal recessive · one copy, from the sperm source.
Found in: Embryo 4 (E-4AA-7F3C).
Who carries it
- Nadia
  Egg source
  Not detected
  No reportable variant in this gene
  Not detected
- Theo
  Sperm source
  c.964-1G>C
  Known to be harmful (pathogenic) · one copy
  Carrier
The variant
DHCR7 c.964-1G>C
PathogenicEstablished gene · carrier finding
Evidence
DHCR7 is on the published list of genes a newborn needs to thrive. This splice-site change is the most common harmful version of DHCR7 and is recorded as pathogenic in ClinVar. On its own, a single copy does not affect development.
What it means here
An informational carrier finding, reported because the panel screens every gene a pregnancy and a newborn need. No action for this transfer.
What it doesn't mean
Being a carrier is not a viability finding and played no part in this embryo's place in the order. It would matter only if this child, as an adult, had a partner who also carries a DHCR7 change.
References

Results by embryo

Embryo prioritization based on results.

Best fit · Suggested order
Embryo 4
E-4AA-7F3C · Day 5 blastocyst
EuploidCarrier · no effect on this embryoGrade 4AAFemale
Best fit embryo to transfer due to being euploid with no reportable pregnancy loss gene findings. Carrier of one DHCR7 change, which has no effect on this embryo.
- DHCR7
  DHCR7 c.964-1G>C
  Carrier · no effect on this embryo
  Carrier
  The second copy is normal, which is enough
  The variant
  DHCR7 c.964-1G>C
  PathogenicEstablished gene · carrier finding
  Evidence
  DHCR7 is on the published list of genes a newborn needs to thrive. This splice-site change is the most common harmful version of DHCR7 and is recorded as pathogenic in ClinVar. On its own, a single copy does not affect development.
  What it means here
  An informational carrier finding, reported because the panel screens every gene a pregnancy and a newborn need. No action for this transfer.
  What it doesn't mean
  Being a carrier is not a viability finding and played no part in this embryo's place in the order. It would matter only if this child, as an adult, had a partner who also carries a DHCR7 change.
  References
  GeneReviews: Smith-Lemli-Opitz Syndrome
  ClinVar: DHCR7
  RPLdb — Human Intolerome database
Fit 2 · Suggested order
Embryo 2
E-5AB-2A91 · Day 5 blastocyst
EuploidModerate riskGrade 5ABMale
Embryo is suitable for transfer, but has a moderately increased risk for pregnancy loss due to a TAZ gene variant.
- TAZ
  TAZ (TAFAZZIN) c.646G>A (p.Gly216Arg)
  Moderate risk
  Inherited
  On the X chromosome — a male embryo has no second copy
  The variant
  TAZ (TAFAZZIN) c.646G>A (p.Gly216Arg)
  PathogenicModerate pregnancy-loss evidence
  Evidence
  TAZ is on the Human Intolerome's list of genes a pregnancy needs to keep growing, which is why this panel screens it. This change is recorded as harmful in ClinVar by several laboratories. Barth syndrome itself is well established; the link to pregnancy loss rests on family reports — male pregnancy loss, stillbirth and serious newborn illness in six of nineteen UK families — moderate evidence, one tier below the strongest.
  What it means here
  A published variant in an X-linked gene with moderate evidence for pregnancy loss; a male embryo has no second copy of this gene. It places this embryo after embryos without a finding and is not a reason on its own to set the embryo aside.
  What it doesn't mean
  It doesn't mean this embryo will fail. It flags a moderately higher chance of loss later in pregnancy, and a serious heart and immune condition after birth, to weigh alongside the chromosome result and grade with your counselor. It says nothing about the egg source's own health.
  References
  ClinVar: TAFAZZIN c.646G>A (p.Gly216Arg), Variation 426783
  Steward et al., Prenat Diagn 2010 — Barth syndrome: an X-linked cause of fetal cardiomyopathy and stillbirth
  Clarke et al., Orphanet J Rare Dis 2013 — Barth syndrome
  OMIM: Barth syndrome (TAFAZZIN)
Fit 3 · Suggested order
Embryo 7
E-5BA-4C26 · Day 5 blastocyst
EuploidHigher riskGrade 5BAMale
Embryo has a higher risk of pregnancy loss due to a TUBB8 gene variant found; recommend genetics review before transfer.
- TUBB8
  TUBB8 c.686T>C (p.Val229Ala)
  Higher risk
  Acts through the egg
  Acts through the egg, not the embryo's own copy
  The variant
  TUBB8 c.686T>C (p.Val229Ala)
  PathogenicPublished reproductive evidence
  Evidence
  TUBB8 c.686T>C (p.Val229Ala) is listed in ClinVar as pathogenic for oocyte maturation defect 2. The cited NEJM report describes dominant oocyte maturation defects and functional disruption of microtubules.
  What it means here
  This is a published variant in a gene with stronger reproductive evidence, and it may affect early embryo development. Your Reticular genetic counselor reviews what it means for this embryo's place in the ranking.
  What it doesn't mean
  It doesn't predict a future child's health — TUBB8 acts on the egg, not the child — and it doesn't guarantee this embryo will fail. It flags a higher chance of early arrest to weigh alongside your chromosome result and embryo grade.
  References
  ClinVar: TUBB8 p.Val229Ala
  Feng et al., NEJM 2016
Fit 4 · Suggested order
Embryo 6
E-4BA-8D42 · Day 5 blastocyst
Low-level mosaicNo known risksGrade 4BAFemale
Prioritize transfer of euploid embryos before considering this low-level mosaic embryo, which has no reportable pregnancy loss gene findings.
No reportable finding was identified in the curated set of genes associated with pregnancy loss and embryonic viability.
Lower fit · Suggested order
Embryo 5
E-3BB-1C57 · Day 6 blastocyst
AneuploidNot assessedGrade 3BBMale
Not recommended for transfer because aneuploid embryos do not result in a healthy live birth.
PGT-A detected aneuploidy in this embryo. That chromosome result is the primary viability concern in this report.

What Core screened

Genes reviewed in every embryo.

Grouped by what each gene does in embryo viability and pregnancy loss, with every group's gene list shown in full and counted exactly. Both partners are screened across the wider 750+ gene panel; the groups below are the ones reviewed in each of your embryos.

Genes that help the egg mature and divide

18 genes · full list

TUBB8 · Embryo 7

These genes help an egg finish maturing and line up its chromosomes to divide. A fault — TUBB8 is the classic example — can leave eggs unable to mature or embryos stalling in the first few days, before a pregnancy can take hold.

TUBB8PATL2TRIP13TACC3CDC20KIF11TUBA4AKIF18AHAUS6LHX8TBPL2ZFP36L2

Gene list sources: ESHRE FeRGI Database · Curated published literature

Genes for fertilization

10 genes · full list

No findings

These genes handle fertilization — the egg's outer coat (the zona pellucida) and the signal sperm use to switch the egg on. A fault can cause fertilization to fail even when the egg and sperm look normal.

ZP1WEE2PLCZ1ZP2ZP3ZP4ASTLACTL7AACTL9IZUMO1R

Gene list sources: ESHRE FeRGI Database · Curated published literature

Genes that run the embryo's first days

12 genes · full list

No findings

The egg stores a “starter kit” of genes that run the embryo's first divisions. A fault makes embryos stop growing at the same early stage, cycle after cycle — a signal that points to egg biology, not anything either of you did.

PADI6TLE6NLRP5NLRP2BTG4CHEK1OOEPKPNA7MOSFBXO43MEI4PANX1

Gene list sources: ESHRE FeRGI Database · Curated published literature

Genes tied to molar pregnancy

5 genes · full list

No findings

These genes set the maternal “imprint” (a chemical tag on the egg's genes) that an embryo needs. A fault can cause molar pregnancies — abnormal tissue growth instead of a healthy pregnancy — and repeat losses that trace to egg biology, with any partner.

NLRP7KHDC3LMEI1TOP6BLREC114

Gene list source: ESHRE FeRGI Database

Genes a pregnancy needs to keep growing

182 genes · full list

TAZ · Embryo 2

Genes an embryo needs to keep developing through pregnancy, from the published Human Intolerome. Where both partners carry a fault in the same gene, Core checks which of your embryos inherited both copies — a cause of loss that chromosome testing cannot see.

AAASABCB4ABCC6ACO2ACTA1ACTG2ADAMTS2ADGRG6ADSLAGKAGTAGTR1

Gene list source: RPLdb Human Intolerome

Genes a newborn needs to thrive

377 genes · full list

DHCR7 · Embryo 4 · carrier

Severe recessive conditions that appear after birth — like Smith-Lemli-Opitz (DHCR7). An embryo that inherits one copy is a healthy carrier; Core reports that for the child's future, never as a finding against the embryo.

ABATABCA3ACADMACEADAMTSL2AIMP1AKR1D1ALDH1A3ALDH7A1ALPLAMER1ANK1

Gene list source: RPLdb Human Intolerome

Blood-clotting & pregnancy-support genes

12 genes · full list

No findings

Placental and pregnancy-support genes with a weaker, context-dependent link to loss. Parental clotting variants such as F5 are reported in the parents' own results, not as embryo findings.

F5F2SERPINC1PROCPROS1ANXA5NOS3SERPINE1F13A1THBDFGAFLT1

Gene list sources: ESHRE FeRGI Database · Curated published literature

Every embryo, at a glance.

Embryo 4 is the best fit to transfer first: euploid, with no reportable pregnancy-loss gene finding.

What your embryos inherited.

Reportable findings

Published reproductive evidence

Moderate pregnancy-loss evidence

Carrier findings

Established gene · carrier finding

Embryo prioritization based on results.

Embryo 4

Embryo 2

Embryo 7

Embryo 6

Embryo 5

Genes reviewed in every embryo.

Genes that help the egg mature and divide

Genes for fertilization

Genes that run the embryo's first days

Genes tied to molar pregnancy

Genes a pregnancy needs to keep growing

Genes a newborn needs to thrive

Blood-clotting & pregnancy-support genes