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Pierson syndrome


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In 2008 my daughter was pregnant and in the last trimester the fetus was diagnosed with Pierson syndrome. Labor was induced at 8 months and the baby died at birth. She got pregnant again and in the 5th month the fetus was diagnosed with the same problem. Can she do in vitro fertilization and select or work on the gene to have a normal boy?

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The following information may help to address your question:

  • Can in vitro fertilization be used to have a boy without Pierson syndrome?
  • Is genetic testing available for Pierson syndrome?
  • How is Pierson syndrome inherited?
  • How can I find a genetics professional in my area?

Can in vitro fertilization be used to have a boy without Pierson syndrome?

When in vitro fertilization (IVF) is used to prevent having a pregnancy affected by a specific genetic disorder, it is one step of a larger process called preimplantation genetic diagnosis (PGD). PGD is done after IVF to diagnose a genetic condition in an embryo before it is introduced into the uterus. When having PGD, only embryos known to be unaffected are introduced into the uterus for a possible pregnancy. PGD does not involve the modification of genetic material (gene therapy) to remove a mutation from an affected embryo.

PGD typically requires that the specific, genetic mutations responsible for a disorder in a family have been identified. Mutations may be identified in an affected family member, or in parents who are carriers. Therefore, advanced planning and testing is needed.

While we are not aware of specific laboratories that offer PGD for Pierson syndrome, some laboratories that perform PGD are able to do "custom" testing for most types of mutations.

Gender selection, or sex selection, may be used during PGD with IVF for medical reasons to prevent genetic disorders known to affect only males, or known to be more severe in males (X-linked disorders). Pierson syndrome is inherited in an autosomal recessive manner, affecting both sexes equally. Sometimes gender selection is "elective" when a specific gender is desired without obvious medical reasons.

As an alternative to IVF and PGD, it may be possible to find out in early pregnancy whether a fetus is affected. If the mutations in a family are known, prenatal genetic testing may be possible during pregnancy. Genetic testing may be performed on a sample obtained by chorionic villus sampling (at about 10 to 12 weeks gestation), or by amniocentesis (usually performed at about 15 to 18 weeks gestation). If the condition is confirmed in the fetus after either method, planning for an affected child and/or pregnancy management options may be discussed with a health care provider.

Ultrasound may also be used as a screening test to detect signs or symptoms of the disorder in an affected fetus. However, if no abnormalities are detected on ultrasound, the possibility that the fetus is or will be affected cannot be ruled out.

People interested in genetic testing, prenatal diagnosis, and/or PGD should speak with a genetic counselor or other genetics professional regarding their testing options. A genetics professional can help by:
  • thoroughly evaluating the family history
  • addressing questions and concerns
  • assessing recurrence risks
  • facilitating genetic testing if desired
  • discussing reproductive options
Last updated: 3/24/2016

Is genetic testing available for Pierson syndrome?

Yes. The Genetic Testing Registry (GTR) provides information about the genetic tests available for Pierson syndrome. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

According to the GTR, genetic testing for Pierson syndrome may be available for diagnosis in a person suspected of having the condition, carrier testing, and prenatal testing.
Last updated: 3/24/2016

How is Pierson syndrome inherited?

Pierson syndrome is inherited in an autosomal recessive manner.[1] This means that to be affected, a person must have a mutation in both copies of the responsible gene in each cell. Affected people inherit one mutated copy of the gene from each parent, who is referred to as a carrier. Carriers of an autosomal recessive condition typically do not have any signs or symptoms (they are unaffected). When 2 carriers of an autosomal recessive condition have children, each child has a:
  • 25% (1 in 4) chance to be affected
  • 50% (1 in 2) chance to be an unaffected carrier like each parent
  • 25% chance to be unaffected and not be a carrier
Last updated: 3/24/2016

How can I find a genetics professional in my area?

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
Last updated: 12/6/2017

We hope this information is helpful. We strongly recommend you discuss this information with your doctor. If you still have questions, please contact us.

Warm regards,
GARD Information Specialist

Please see our Disclaimer.

References References


  1. Jane Kelly. Pierson Syndrome. OMIM. August 12, 2011; http://www.omim.org/entry/609049.

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