What Defines Infertility?

The Main Signs of Infertility?


Infertility is the inability to get pregnant after one year of regularly having unprotected sexual intercourse. In order for pregnancy to occur naturally, a woman must release a healthy egg from her ovaries at just the right time for it to be fertilized by the healthy sperm of a man. Then the fertilized egg, called an embryo, must pass from the fallopian tube and implant in the uterus.

When a couple struggles to conceive, usually it is because something is going wrong in that natural process. In women, infertility may be caused by hormonal imbalances affecting ovulation (the release of the egg) or by conditions affecting the physical structure of the reproductive organs, such as endometriosis or blocked fallopian tubes.

In men, infertility can be caused by issues such as:

  • poor sperm health or quantity,
  • a blockage, or
  • erectile dysfunction.

Genetic issues can cause infertility in both men and women.

Infertility is common, affecting 1 in 8 couples in the United States. According to the American Society for Reproductive Medicine , about one-third of infertility cases are due to male factors, one-third relate to female factors, and the remaining third is caused by a combination of male and female factors together or diagnosed as unexplained infertility.

What are the causes of infertility?


Infertility is a medical condition defined by the inability to achieve pregnancy after one year of regular, unprotected sexual intercourse. However, many think a diagnostic workup is reasonable after six months of failing to get pregnant if a woman is 35 or older, has underlying risk factors, or is emotionally stressed about not conceiving.

Causes of infertility include a variety of conditions affecting the reproductive systems of men and women and often relate to problems with both sexes at the same time.

In men, infertility is commonly due to issues with the quality or quantity of sperm. Conditions such as varicoceles (enlarged veins in the scrotum), infections, ejaculation problems, or hormonal imbalances can contribute to this. Genetic disorders, exposure to certain environmental factors, and lifestyle choices can also interfere with sperm production or function, leading to male infertility.

In women, infertility can result from problems with ovulation, often linked to conditions like polycystic ovary syndrome (PCOS) and primary ovarian insufficiency (POI). Issues with the fallopian tubes, uterus, or cervix can also hinder a woman’s ability to conceive. Age is also a significant factor, as fertility tends to decrease as women age, particularly after the mid-30s.

Treatment for infertility can include lifestyle adjustments, but is more likely to be successful with oral medications and insemination, or advanced medical treatments such as in vitro fertilization (IVF) .

What is Unexplained Infertility?


Around 20 percent of couples receive a diagnosis of unexplained infertility — testing and examination cannot reveal a precise cause of infertility. Fertility testing can detect the major causes of infertility, such as sperm count and ovulation disorders. But fertility testing is more limited in identifying more subtle issues such as poor egg quality.

Additionally, Hysterosalpingogram (HSG), is a type of X-ray exam used to diagnose infertility, can falsely indicate that a patient’s fallopian tubes are normal when they are actually damaged.

Couples diagnosed with unexplained infertility can still be great candidates for fertility treatments even though testing cannot pinpoint the cause of their inability to get pregnant.

Related Information: Fertility Treatments Overview

What are Genetic Causes of Infertility in Men and Women?


Certain genetic abnormalities may be carried by one or both partners and passed onto the developing embryo or fetus. These can result in implantation failure or miscarriage. Couples with a family history of genetic disorders may benefit from preimplantation genetic screening and diagnosis (PGS/PGD) during IVF, which can identify abnormal chromosomes in embryos.

Diagnosing Genetic Causes of Infertility

Fertility specialists often identify genetic causes of infertility by combining medical history analysis, physical examinations, and specific genetic tests. These tests provide crucial information that can guide personalized treatment strategies. For example, if a chromosomal abnormality is detected, the use of donor sperm or eggs may be recommended. In cases of specific genetic disorders, preimplantation genetic diagnosis (PGD) could be used during an IVF cycle to select embryos without the genetic issue for transfer. By uncovering underlying genetic issues, these tests help fertility specialists develop a tailored approach to assist patients on their journey to parenthood.

Genetic factors play a significant role in human reproduction, affecting both men and women. Understanding these genetic causes of infertility can provide a basis for potential treatments and interventions.

Chromosomal abnormalities are a major genetic cause of infertility. These can include conditions like Klinefelter syndrome in men, where there is an extra X chromosome, and Turner syndrome in women, where one of the two X chromosomes is missing or altered.

Treating Infertility Due to Genetic Causes

Advanced reproductive technologies and personalized treatment strategies often become necessary when infertility arises from genetic factors. The specific genetic cause largely dictates the course of action.

In Vitro Fertilization (IVF) with donor sperm or eggs may be suitable in cases involving chromosomal abnormalities. Using a donor can provide genetically healthy eggs or sperm, enhancing the chances of a successful pregnancy. 

For situations where a specific genetic disorder is identified, specialists might employ Preimplantation Genetic Diagnosis (PGD) during an IVF cycle. This technique screens embryos for known genetic conditions before transferring them to the uterus. It allows for the selection of embryos free from genetic issues, thereby increasing the probability of a healthy pregnancy and child.

Preimplantation Genetic Testing for Aneuploidies (PGT-A) provides another option for couples grappling with genetic infertility. This test evaluates embryos for the correct number of chromosomes, as imbalances can lead to complications such as miscarriage or conditions like Down syndrome.

Fertility preservation strategies, like egg or sperm freezing, provide an alternative pathway to parenthood for individuals diagnosed with genetic conditions such as Fragile X syndrome or for carriers of certain genetic disorders.

Related information: Preimplantation Genetic Screening & Diagnosis

How is Infertility Treated?


Infertility treatment varies depending on the diagnosis and may include conservative measures such as lifestyle modification and adopting healthy habits. In other cases, surgical procedures or medications to correct underlying conditions can restore a couple’s ability to conceive naturally. Advanced reproductive technologies (ART) such as IVF are recommended for more severe or persistent cases where lower-tech approaches are less likely to lead to a successful outcome.


Related Information: Fertility Treatments

Why Wait? Get Your Fertility Questions Answered.


Positive Steps Fertility has the full range of Fertility Diagnostics and Treatment

Positive Steps Fertility is fully equipped to diagnose and treat infertility in men and women. Of note, Dr. Parry pioneered the Parryscope technique and approach, allowing for accurate, gentle, fast, single-visit fertility testing where a woman gets results as the procedure is being performed. We can help you get answers quickly and help you decide the best approach to building the family you want in the most efficient means possible.


For an appointment, contact us online or call 855-759-4124