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What You Can Learn About Infertility with Genetic Screening

Today doctors routinely suggest genetic screening to couples as part of their pre-pregnancy counseling. These tests screen both partners for more than 100 diseases and conditions. The conditions may impact your fertility, cause potential loss of future pregnancy by increasing your risk for miscarriage, or pose a threat of birth defects in your future child.

With all that genetic screening uncovers it may not surprise you that doctors find this type of genetic testing useful in predicting infertility. For those who’ve struggled to conceive and suspect infertility, genetic screening may help you get some answers. Here we take a look at some of the conditions uncovered by genetic screening and how they may reveal infertility.


Genetics and Infertility

DNA makes up your genes which make them a normal part of your heredity. Genes make up the nucleus of each chromosome. Chromosomes come in pairs, one from each biological parent. The genes within the chromosome determine things like hair color, eye color and other personal attributes as well as physical development and function. Genetic disorders result when genes don’t form as they should or when there is a missing gene or gene mutation.

Here are the specific ways genetic disorders interfere with fertility:


  • If an embryo inherits a single gene disorder implantation failure may result.
  • If implantation occurs, a single gene disorder may cause miscarriage.
  • A chromosomal abnormality may also result in implantation failure or miscarriage.
  • Genetic disorders may cause infertility by affecting the reproductive system in males or females.


How Does Genetic Screening Identify Infertility?

Doctors become concerned regarding a patient’s fertility if after 12 consecutive months of unprotected intercourse conception has not occurred. If the female partner is over the age of 35 then doctors show concern after six consecutive months of unprotected intercourse.

Your infertility may link directly to a genetic predisposition or a chromosomal abnormality. Abnormalities in either the male’s or female’s genetics may lead to infertility through implantation failure or recurrent miscarriage. Certain disorders in males affect sperm production and some genetic defects in females interfere with normal ovulation.



Types of Genetic Testing for Infertility in Females

There are two types of genetic tests your doctor performs when evaluating your fertility.


Genetic Carrier Screening

Genetic carrier screening looks for any genetic condition you may pass on to your future child. The test analyzes your DNA determining whether or not you are a carrier of various genetic conditions. Very often carriers do not have the condition themselves but rather carry the gene that causes the condition in their offspring.

Fragile X is just one of the genetic defects for which you’re screened. Females who carry the gene for fragile X syndrome have increased risk for a condition called primary ovarian insufficiency or POI. Females with POI experience infertility as the ovaries shut down before the age of 40.



This blood test analyzes the structure of your chromosomes and looks for connections to infertility related to rearrangements of the chromosomal structure such as Turner syndrome. The majority of females with Turner syndrome fail to mature sexually resulting in absence of the menstrual cycle which prevents ovulation.



Types of Genetic Screening for Infertility in Males

There are three types of genetic screenings for infertility in males. They are as follows:


Genetic Carrier Screening

Just as with female genetic carrier screening your doctor looks for specific genetic conditions you may carry.  Again, if you carry the gene for certain genetic conditions you typically don’t have the condition yourself. One of the conditions for which the screening tests is cystic fibrosis. You may pass CF on to your future child and if you carry the gene for CF you may not have a vas deferens, the tube that transports sperm.



In males, karyotype, which looks for chromosomal structure rearrangements, may uncover the presence of the condition Klinefelter syndrome. Males born with Klinefelter syndrome have an extra X chromosome which causes low testosterone. Because of this the male with Klinefelter syndrome may not produce sperm.


Y chromosome Micro-deletion Study

This blood test examines certain regions of the Y chromosome that, if absent, affect sperm development leading to infertility.


Preimplantation Genetic Testing

When a couple undergoes IVF, they may opt for preimplantation genetic testing (PGT) which examines the viability of the embryos prior to implantation into the uterus. This type of testing assesses the embryos for any chromosomal or genetic abnormalities that may lead to miscarriage or increase the risk for devastating birth defects or stillbirth.


Genetic Screening Provides Answers

If you suspect a genetic condition may be at the root of your inability to conceive or you just want some answers reach out to LA IVF. We offer genetic screening as part of your pre pregnancy evaluation as well as preimplantation genetic testing to ensure the viability of your embryos. Let us help you on your path to parenthood. Contact LA IVF today and we’ll begin your journey together.

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