Case type IVF & Fertility Treatment Injuries

PGT-SR Testing Errors

You or your partner carries a translocation or other chromosome rearrangement, you used PGT-SR to choose an embryo, and a later result does not match the report. Tell us your story.

CBW Law reviews possible PGT-SR testing errors for families nationwide. We look at whether the testing method fit the rearrangement, how samples were tracked and what the report and counseling told you. Some results reflect real limits of the test, and we will be clear about that. Tell Us Your Story. Contacting us does not create an attorney-client relationship.

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PGT-SR testing error claim review Tell Us Your Story Contacting us does not create an attorney-client relationship. Or call us any time (800) 476-2416

PGT-SR helps parents who carry a chromosome rearrangement find embryos without a harmful imbalance. What it can show depends heavily on the lab's method, and some methods cannot tell a balanced carrier embryo from one with the usual arrangement. A result can be wrong because of a known limit of the test, or because of a mislabeled sample, a poor choice of method or a report that overstated what the test could see. A PGT-SR lawyer can help you understand which happened.

What PGT-SR testing is and why it may be offered

PGT-SR stands for preimplantation genetic testing for structural rearrangements. It is used when a parent carries a chromosome change in which pieces of chromosomes have broken and rejoined in a new arrangement. Embryos from that parent are at risk of gaining or losing chromosome material, and PGT-SR looks for those imbalances before transfer3.

Rearrangements include reciprocal and Robertsonian translocations, insertions, deletions, duplications and inversions. They can be inherited or new. Inherited reciprocal and Robertsonian translocations are the most common reasons for PGT-SR1. Before testing, the lab works from the carrier parent's karyotype, a detailed picture of that person's chromosomes1.

The goal is to find unbalanced embryos at the earliest stage1. When the test can detect all the unbalanced forms, it may lower the risk of miscarriage, stillbirth or a baby with an unbalanced rearrangement1. ESHRE warns that a test unable to detect every segment may be less effective at lowering those risks1. ACOG describes the clinical usefulness of PGT-SR as firmly established3.

Balanced and unbalanced rearrangements, in plain terms

Think of chromosomes as a set of instruction books. In a rearrangement, pages have been moved from one book to another or put in backward. What matters most is whether any pages are missing or extra2:

Balanced: no genetic material is gained or lost, just arranged differently2. A balanced change may have no effect on the carrier's health2.
Unbalanced: some genetic material is missing or extra2. This can lead to miscarriage, stillbirth or problems with growth and development1 2.
Translocation: a piece of one chromosome breaks off and attaches to another2.
Inversion: a chromosome breaks in two places and the piece is turned around and put back2.

A balanced carrier can make eggs or sperm that lead to unbalanced embryos, as well as embryos that carry the balanced form or the usual arrangement1 5. The effects of an unbalanced change depend on its size and location2.

How PGT-SR compares with PGT-A and PGT-M

PGT-SR looks for gains or losses tied to a known parental rearrangement3.
PGT-A screens all chromosomes for extra or missing copies, usually for patients without a known rearrangement1 3.
PGT-M tests for one gene variant that runs in a family3.

Some methods check the other chromosomes too. Array-based PGT-SR can assess chromosomes not involved in the rearrangement in the same test1. A single report may therefore answer more than one question, and it should say which ones.

Why the testing method matters

Not all PGT-SR tests give the same information. The method decides how small a change the lab can see and whether it can tell a balanced carrier embryo from one with the usual arrangement.

What different PGT-SR methods can and cannot show

FISH: Uses colored probes for chosen chromosome regions. It sees only the regions the probes target and cannot tell normal from balanced embryos1.
Array CGH: Reads copy number across the genome, with a resolution of about 5 to 10 million base pairs. It cannot tell normal from balanced embryos, and segments below its resolution may be missed1.
Standard NGS: Counts DNA reads by chromosome. Without added genotyping it cannot tell balanced from normal results, detect whole ploidy changes, or catch low-level mosaicism or changes below its resolution1.
SNP array and haplotyping: Can tell balanced carrier embryos from non-carrier embryos using haplotypes. The lab first needs DNA from the couple and a reference, ideally a relative who carries the balanced form; without one, it may rely on an unbalanced embryo from the cycle1. A 2022 study reported that a low-coverage sequencing method with haplotype analysis matched amniocentesis results in all 15 ongoing pregnancies it followed5.

ESHRE says a clinical PGT-SR test should not be done if the rearranged segments are smaller than the platform can detect, and that the work-up report should say when some unbalanced forms cannot be detected1. Counseling should also explain whether the chosen method can separate normal from balanced results4.

If you are unsure what your test could see, ask the clinic or lab which platform was used, its resolution and whether it reported carrier status. Those details often sit in the work-up report rather than on the page listing embryo results.

Sample, analysis and reporting errors in PGT-SR

Some failures come from the test's limits. Others come from avoidable mistakes. Examples of preventable problems include:

Sample errors: tubes mislabeled, swapped or contaminated during biopsy or shipping (see genetic testing sample mix-ups)
Analytical errors: a method chosen that cannot detect the parent's rearranged segments
Work-up errors: a test planned from a parental karyotype that was wrong or not detailed enough (ESHRE calls for a high-resolution karyotype in the file)1
Interpretation errors: a mosaic or partial result read as clearly balanced or unbalanced
Reporting errors: results attached to the wrong embryo, or carrier status reported when the method could not show it
Communication errors: limits, undetectable forms or residual risk never explained

Good-practice guidance calls for labeling each sample with two unique patient identifiers plus the embryo number, with an independent check at high-risk steps. After a misdiagnosis, the center should investigate and change its protocols4.

Residual risk, genetic counseling and confirmatory testing

No PGT-SR result removes all risk. ESHRE says counseling should include the chance of a viable unbalanced pregnancy if the test misses an unbalanced form, and the patient's file should hold a high-resolution parental karyotype, a counseling report on the method's benefits and limits, and informed consent with a risk assessment1.

ACOG says a normal or negative result does not ensure a newborn without genetic abnormalities. It adds that diagnostic testing or screening is especially important after PGT-SR when PGT-A was not also performed3. ESHRE guidance also says patients should be told about prenatal diagnosis to confirm a PGT result4. For rearrangements involving certain chromosomes, ESHRE notes an increased risk of uniparental disomy and says prenatal testing for it should be assessed case by case1.

Whether to have prenatal testing is your decision, made with your care team. Choosing not to have it does not cause or excuse a testing error. For a broader comparison of what each type of embryo test can miss, see PGT results and testing limitations.

When a test cannot tell you something, you deserve to hear that before you decide which embryo to transfer.

Possible consequences of a PGT-SR error

A wrong or poorly explained PGT-SR result can affect a pregnancy, a child and a family's future plans:

Transfer of an embryo with an unbalanced rearrangement, leading to miscarriage or stillbirth
A child born with a chromosome imbalance the testing was meant to detect
Balanced or normal embryos discarded because of a wrong report
A child who carries the balanced form, when the family was told the method could rule it out
More IVF cycles, more cost and more time
Grief, worry about future pregnancies and strain on the family

Where the law stands on PGT-SR claims

Claims involving PGT-SR are decided case by case under state law. Some states limit claims tied to the birth of a child, as our PGT-M page explains with an Arizona example. Proposed class actions over PGT-A marketing have also reached federal courts, as discussed on our PGT-A page. Each of these is a different kind of case, and an individual PGT-SR error depends on its own records.

When a PGT-SR lawyer may help

Consider talking to a lawyer about a possible PGT-SR testing error if:

Prenatal or newborn testing found an imbalance involving the parent's rearrangement
Your report described carrier status, but the lab's method could not show it
Your file does not name the method used or its limits
Embryo numbers, names or dates in the report do not match clinic records
Embryos were discarded based on a result later shown to be wrong

A claim review compares the parental karyotype with the method chosen, follows each sample from biopsy to report and checks what you were told before you consented and before transfer.

Who may be responsible for a PGT-SR error

The PGT lab that chose the method, analyzed the samples and wrote the report
The fertility clinic and physician who ordered testing and chose embryos
The embryology lab that performed the biopsy and labeled samples
The cytogenetics lab that reported the parent's karyotype
A genetic counselor who explained, or did not explain, the test's limits

Responsibility is never assumed. A PGT-SR attorney looks at each party's role in the records.

Filing deadlines for PGT-SR claims

Deadlines vary by state and can be short. Texas is one example. A health care liability claim generally must be filed within two years of the breach or the completed treatment, subject to a ten-year outer limit. A claimant must also give written notice at least 60 days before suing6. Other states use different time limits, notice rules and expert requirements. Contact a lawyer as soon as you suspect an error.

Tell Us Your Story →

Records worth collecting

Testing records

The carrier parent's karyotype report
PGT-SR work-up or feasibility report
Embryo-by-embryo PGT-SR results
Prenatal, newborn or retest results

PGT-SR consent forms
Genetic counseling notes on method and limits
Embryo disposition forms

Treatment records

Biopsy, freezing and thaw logs
Embryo transfer records
Messages with the clinic or lab
Bills and receipts

What happens after you contact CBW Law

What to expect

Share what happened

Tell us about the rearrangement, the testing and the outcome. You do not need every document.
We note the deadlines

We identify which state's rules may apply and how much time may remain.
We examine the method

With your permission, we gather records and check whether the method matched the rearrangement and what the report actually said.
We tell you where things stand

We explain what we found and whether we see a claim. Contacting us does not mean we will take the case.

Plain English

Medical, Health & Insurance

PGT-SR reports use chromosome terms most families have never seen. Here they are in plain language.

Chromosome changes

Reciprocal translocation: Two chromosomes swap pieces with each other.
Robertsonian translocation: A rearrangement joining two acrocentric chromosomes, whose centers sit near one end. It is a common reason for PGT-SR1.
Inversion: A segment breaks out, flips and reattaches in the same chromosome2.
Karyotype: A lab picture of a person's chromosomes used to describe the rearrangement.

Test methods

FISH: Fluorescent probes that light up chosen chromosome regions1.
Array CGH: A method that compares the amount of embryo DNA with reference DNA across the genome1.
Resolution: The smallest gain or loss a method can reliably detect.
Uniparental disomy (UPD): Both copies of a chromosome inherited from one parent.

Pregnancy testing

Chorionic villus sampling (CVS): A diagnostic test of placental tissue early in pregnancy.
Amniocentesis: A diagnostic test of cells in the fluid around the fetus.

Insurance and billing

Feasibility or work-up fee: A charge for checking whether a lab can test for a specific rearrangement.
Out-of-pocket cost: What you pay after any insurance payment.
Explanation of benefits (EOB): An insurer's statement listing charges, payments and your share.

Questions

Frequently asked PGT-SR testing error questions

Answers to questions families ask about PGT-SR results.

Why would someone need PGT-SR?

PGT-SR is used when a parent carries a structural chromosome rearrangement, such as a translocation or inversion. Embryos from that parent may gain or lose chromosome material3. Testing aims to find unbalanced embryos before transfer1. ACOG considers its clinical usefulness firmly established3.

What is the difference between a balanced and an unbalanced translocation?

In a balanced translocation, a piece of one chromosome has moved to another but no genetic material is gained or lost. In an unbalanced translocation, material is missing or extra2. A balanced change may have no effect on the carrier's health2, but their embryos can inherit an unbalanced form1.

Can PGT-SR tell if my embryo is a balanced carrier?

Only some methods can. FISH, array CGH and standard NGS cannot tell a balanced embryo from one with the usual arrangement1. SNP-based haplotyping can, usually with a reference sample such as a relative's DNA1, and newer sequencing methods with haplotype analysis have been reported to do the same5. Ask which method your lab used.

My embryo was reported balanced, but my child has a chromosome imbalance. Was that an error?

It might be, but not always. Mosaicism, changes below a test's resolution and unbalanced forms the method could not detect are known limits1. A review checks whether the method fit the rearrangement, whether samples were tracked correctly and whether the report matched the data.

Should I have prenatal testing after PGT-SR?

ACOG says diagnostic testing or screening is especially important after PGT-SR when PGT-A was not also done3. The choice is yours, made with your doctor or genetic counselor. Declining prenatal testing does not cause a lab error and does not change who is responsible for one.

Does PGT-SR also check the other chromosomes?

It depends on the method. Array-based platforms can assess chromosomes outside the rearrangement at the same time, while FISH checks only the regions its probes target1. Your report should say what was tested. If it does not, that gap is worth raising.

What is uniparental disomy, and can PGT-SR find it?

Uniparental disomy means both copies of a chromosome came from one parent. ESHRE notes a higher risk in carriers of some rearrangements and says FISH, array CGH and NGS cannot detect it1. Prenatal testing for it may be considered case by case1.

What records should I request for a PGT-SR review?

Start with the carrier parent's karyotype, the lab's work-up or feasibility report, embryo-by-embryo results and your consent and counseling notes. ESHRE says the patient file should include the karyotype, a counseling report on the method and its limits, and signed consent with a risk assessment1. Add transfer records and any prenatal or newborn test results.

How long do I have to file a PGT-SR lawsuit?

That depends on your state. In Texas, for example, most health care liability claims must be filed within two years, with notice given at least 60 days before suit6. Rules elsewhere differ. Because errors may surface only during pregnancy or after birth, speak with an attorney soon.

Tell Us Your Story

PGT-SR can lower risk for families who carry a rearrangement, but only within the limits of the method used. When samples are mixed up, methods do not fit or limits go unexplained, families can face losses they worked hard to avoid.

If a PGT-SR result did not hold up, tell us your story. We will review what happened and explain your options honestly, without promising representation or any particular outcome.