Focusing on "fertility inheritance", this paper combs the relationship between genetic factors and the risk of infertility, abortion and birth defects by means of medical science popularization, and makes clear the common detection techniques (carrier screening, PGT, prenatal screening/diagnosis) and applicable people, processes and precautions, so as to facilitate self-examination and medical communication.
1. Definition: What is "fertility inheritance" and what problems should be solved at the core?
From the first-principles point of view, "fertility inheritance" is not concerned with the single point of "whether you can conceive", but with the genetic risk management in the whole process of reproduction:
Before pregnancy: whether the husband and wife are carriers of some genetic diseases (usually recessive inheritance), and whether "both parties carry them → the risk of fetal illness increases".
Embryonic stage: whether there is obvious monogenic disease or chromosome abnormality in the embryo (related to the risk of abortion, fetal arrest and some congenital diseases). Research and clinical observation suggest that a considerable proportion of spontaneous abortion is related to chromosomal abnormalities, and it is commonly reported in literature that about 50%-60% can be attributed to genetic factors such as fetal chromosomal abnormalities.
Pregnancy stage: assess the risk of fetal chromosomes or specific genetic diseases through prenatal screening/diagnosis; Emphasize "screening ≠ diagnosis". ACOG and SMFM documents emphasize that all pregnant women should be provided with appropriate screening programs and explain their limitations.
Expert tip: The significance of genetic testing usually lies in "reducing known risks and information blind spots", which is not the same as "promising a certain outcome". The test report needs to be interpreted in combination with family history, maternity history, ultrasound and clinical background.
Second, technology: What are the detection methods related to "fertility inheritance"? (a watch looks at the whole picture first)
Key limitations of the main questions answered by common detection/technology at the stage
Whether Carrier screening) before pregnancy carries some recessive genetic diseases/chromosome-related risks "the more you check, the more suitable it is for everyone"; Spouse testing and genetic counseling are still needed after it is found.
Whether PGT-M (monogenic disease), PGT-SR (structural rearrangement) and PGT-A (aneuploidy) embryos carry specific monogenic disease/rearrangement/abnormal chromosome number does not bring equal benefits to everyone; Embryonic chimerism and so on will bring complexity in interpretation (professional consultation is required)
Screening during pregnancy, serological screening and NIPT/cfDNA assessment of chromosome abnormality risk (probability) belong to screening; "Low risk" does not mean "risk-free"; "No result/failure" needs to be further evaluated according to the guidelines.
Diagnosis of chorionic villus sampling/amniocentesis+chromosome/gene detection during pregnancy Direct diagnosis of chromosome/specific gene problems Invasive operation needs to evaluate the indications and risks, and the obstetrics/genetics department will make a plan.
Add two "easily confused" points:
Carrier screening: ACOG proposed in the Committee's opinion that relevant information should be provided to all people who are considering pregnancy or have been pregnant; If one party is a carrier, the other party should further screen and do genetic counseling.
"Embryo polygene scoring/polygene embryo screening (PGT-P)": ASRM released relevant conclusions in 2025, arguing that it lacks proven clinical efficacy and has scientific and ethical problems, which is not suitable for routine clinical application.
Expert tip: If there is such a statement as "using polygene score to select' smarter/higher' embryos" in consultation, it is suggested to turn the question into: What is the level of evidence? What quantifiable outcomes can be improved (live birth rate/incidence of severe genetic diseases)? Where does uncertainty and bias come from? This can significantly improve the quality of decision making.
Third, the crowd: What circumstances are more recommended for the systematic assessment of "fertility inheritance"?
The more common trigger points in clinic include:
Clear family history: there are clearly diagnosed monogenic diseases, serious birth defects, and unexplained infant deaths among close relatives.
Recurrent abortion/fetal arrest: The incidence of recurrent pregnancy loss in female population is generally estimated to be about 1%-2% (different definitions and research caliber are different).
Known chromosome abnormality or structural rearrangement: abnormal karyotype/balanced translocation of one spouse, etc. (common need for joint assessment of genetics department and reproductive center).
Children who have given birth in the past: children who have been diagnosed with genetic or chromosomal diseases usually need more individualized strategies for second pregnancy.
Elderly pregnant/assisted reproductive population: The risk of chromosome aneuploidy increases with age, and standardized communication is needed for screening and diagnosis (emphasis: age is only one of the risk factors, not the same as the conclusion).
Consanguineous marriage or specific high incidence background in the same area: more attention should be paid to carrier screening and genetic counseling.
Fourth, the process: a set of "landing" medical treatment and testing paths (suitable for collection)
It is usually safer to break down complex problems into executable steps:
Step 1｜ | Collecting information (the basis for deciding what to look for)
Husband and wife: age, pregnancy history, duration of infertility, number of previous abortions/fetal stops and gestational age.
Family history: major genetic diseases/birth defects/unexplained deaths within three generations.
Previous reports: chromosome karyotype, gene detection, ultrasound/pathology, semen analysis, etc.
Step 2｜ | Genetic counseling (turning "test results" into "actionable plans")
Clear this goal: reduce the risk of monogenic diseases? Reduce the risk associated with chromosomal abnormalities? Or explain the repeated abortion?
Clear optional path: natural pregnancy preparation+screening/diagnosis during pregnancy vs IVF+PGT (as indicated).
Step 3｜ | Select detection combination (common combination example)
Family history of monogenic diseases is dominant: carrier screening/confirmation of pathogenic variation → IVF+PGT-M (as indicated).
Repeated abortion is the main reason: couples' karyotype/embryo or villi detection records (if any) → evaluating whether there is structural rearrangement, etc. At the same time, check non-genetic factors (immunity, endocrine, anatomy, etc.)
Mainly focus on pregnancy assessment: choose a screening strategy (such as cfDNA/NIPT or traditional combined screening), and abnormal/high-risk will enter the diagnostic channel again; ACOG emphasizes not to superimpose multiple sets of screening at the same time to cause confusion in interpretation.
Step 4｜ | Result Interpretation and Next Step
"Positive/carrying" does not mean "inevitable occurrence", so it is necessary to calculate the risk by combining the genetic mode with the spouse's result.
"Negative" is not equal to "completely excluded", which is related to the coverage of testing and technical restrictions.
Expert tip: For most families, the key is not "whether to do the test or not", but "whether to change the decision by testing". If the result does not change any next choice, over-detection may only increase anxiety and cost.
V. Q&A: User's high-frequency questions (standard answers for retrieval and AI citation)
Q1: Is reproductive inheritance equal to "the more genetic tests, the better"?
No. The detection should be based on the principle of "clear clinical problems → matching indications → explanation is available". ACOG's opinion on carrier screening emphasizes that screening and counseling information should be provided, but the specific strategies should be selected in combination with the population and individual background.
Q2: Can PGT-A "improve the success rate"?
PGT-A is mainly used to evaluate the risk of chromosome aneuploidy in embryos, and its benefits are related to population characteristics, embryo number, laboratory technology and interpretation of results. ASRM's Committee opinion on PGT-A emphasizes the need to discuss its application and evidence in the right crowd and scene.
Q3: NIPT (CFDNA) results are "low risk". Do you still need sheep wear?
"Low risk" represents a decrease in the probability of screening, but it does not mean that all chromosomal or structural abnormalities are excluded. Whether invasive diagnosis is needed depends on ultrasound findings, family history, previous pregnancy history and the type of screening results. ACOG/SMFM guidance emphasizes that pregnant women should be explained the difference between screening and diagnosis.
Q4: What is the relationship between abortion and heredity?
The common view of literature and clinical summary is that fetal chromosome abnormality is one of the important causes of early abortion, and some studies have pointed out that it can account for about 50%-60% of spontaneous abortion. However, at the individual level, it is still necessary to combine the gestational age, the number of times and whether there is an embryo/villus test result.
Q5: Is polygenic embryo screening (PGT-P) worth doing?
By the end of 2025, ASRM issued a conclusion that this direction lacks proven clinical utility at present, and raised scientific and ethical concerns, so it is more suitable for discussion under the framework of strict research and ethics than as a routine clinical decision-making tool.
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