When couples face challenges with conception, a comprehensive fertility evaluation often includes a lesser-known but increasingly important step: genetic screening. While hormone levels and imaging studies provide insight into egg health, ovulation, and sperm quality, genetic factors can be the hidden cause of unexplained infertility, recurrent pregnancy loss, or failed IVF cycles.
In this guide, we’ll explore the role of genetic screening in fertility workups—what it tests for, who should consider it, and how it can shape your path to parenthood.
What Is Genetic Screening in Fertility?
Genetic screening in a fertility workup refers to a series of blood or saliva tests that examine the DNA of one or both partners. These tests look for inherited genetic conditions that could affect fertility, increase the risk of miscarriage, or lead to inherited diseases in offspring.
There are two main types of genetic testing commonly performed during fertility assessments:
- Carrier Screening (Preconception Genetic Screening)
- Karyotype Analysis (Chromosomal Testing)
In certain cases, advanced testing like PGT (Preimplantation Genetic Testing) may be recommended for those pursuing IVF.
1. Carrier Screening: What Conditions Are Tested?
Carrier screening identifies whether you or your partner carry gene mutations for inherited genetic disorders, even if you show no symptoms. If both partners carry the same mutation, there is a higher chance (typically 1 in 4) that the child may inherit the disorder.
Common conditions screened include:
- Cystic Fibrosis
- Spinal Muscular Atrophy (SMA)
- Tay-Sachs Disease
- Sickle Cell Anemia
- Thalassemia
- Fragile X Syndrome
- Gaucher Disease
- Congenital deafness genes
- Dozens to hundreds of other rare autosomal recessive disorders
Some clinics offer expanded carrier screening panels, which test for 100+ conditions regardless of ethnicity or family history.
🕑 Time to results: 2–3 weeks
2. Karyotype Analysis (Chromosomal Testing)
A karyotype test evaluates the number and structure of chromosomes in a person’s cells. It helps identify large-scale chromosomal abnormalities that could affect fertility or cause recurrent miscarriages.
Karyotyping can detect:
- Balanced translocations (segments of chromosomes are rearranged but no genetic material is lost)
- Inversions, duplications, or deletions
- Sex chromosome anomalies like Turner syndrome (45,X) or Klinefelter syndrome (47,XXY)
📌 Why it matters:
Even if you are healthy, having a balanced translocation can cause embryos to form with missing or extra genetic material—leading to miscarriage or IVF failure.
🕑 Time to results: 2–4 weeks
3. Genetic Testing for Recurrent Pregnancy Loss
If you’ve had two or more miscarriages, genetic testing can help determine whether a chromosomal abnormality is the cause. In addition to karyotyping both partners, your doctor may recommend testing products of conception (POC) after miscarriage to analyze fetal DNA.
4. Preimplantation Genetic Testing (PGT) in IVF
If genetic concerns are found or you’re undergoing IVF at an advanced maternal age, PGT may be recommended:
Types of PGT:
- PGT-A (Aneuploidy): Screens embryos for abnormal chromosome numbers (e.g., trisomy 21/Down syndrome)
- PGT-M (Monogenic/Single-Gene): Tests embryos for specific inherited disorders found in carrier screening
- PGT-SR (Structural Rearrangements): Used if one partner has a chromosomal rearrangement like a translocation
📌 Why it matters:
PGT can improve IVF success rates and reduce miscarriage risk by transferring only healthy embryos.
🕑 Time to results: 7–14 days post embryo biopsy
Who Should Consider Genetic Screening During Fertility Testing?
Genetic screening is recommended for:
✅ Couples with unexplained infertility
✅ Those with two or more miscarriages
✅ Individuals with a family history of genetic conditions
✅ Women over 35 years old
✅ Couples with failed IVF cycles or poor embryo quality
✅ Certain ethnic backgrounds with higher risk for inherited disorders (e.g., Ashkenazi Jewish, African, Mediterranean, or Southeast Asian descent)
How Genetic Screening Influences Fertility Treatment
Here’s how your fertility plan may change based on genetic findings:
| Finding | Treatment Consideration |
|---|---|
| Both partners carry the same mutation | IVF with PGT-M to avoid passing condition to child |
| Balanced translocation in one partner | PGT-SR or consider donor gametes |
| Chromosomal abnormality (e.g., Turner) | Referral to a reproductive endocrinologist or genetic counselor |
| High risk of passing severe disease | IVF with PGT-M, egg/sperm donation, or adoption |
Limitations of Genetic Screening
While powerful, genetic screening does have limitations:
- It cannot detect all conditions—only those included on the testing panel
- Some findings are of uncertain significance
- Results may require genetic counseling to interpret and explain risks
- Not all chromosomal issues can be fixed—only avoided using IVF/PGT or third-party reproduction
Emotional and Ethical Considerations
Genetic findings can be emotionally challenging and may raise ethical questions about family planning. It’s important to have access to a genetic counselor to help you understand your options and make informed decisions about treatment paths.
Final Thoughts
Genetic screening is a crucial but often overlooked part of a comprehensive fertility workup. It can reveal hidden causes of infertility, prevent the transmission of serious inherited conditions, and inform safer, more personalized fertility treatment strategies.
