Preconception Testing

You may worry about certain genetic diseases that your baby could inherit. If you are pursuing fertility treatment–a proactive approach to getting pregnant–your fertility specialist may discuss a preventive measure to take prior to conception. During the initial stages of diagnostic testing, Dr. Mark Rispler will help determine the necessity for preconception testing.

What is Preconception Testing?

Single Gene vs. Chromosome Disorders

  • Genes direct a body’s cells. Gene disorders run in families.
  • Chromosomes serve as the structures that hold genes. Most chromosome disorders do not run in families.

Not every individual or couple that approaches Innovative Fertility Center is an appropriate candidate for preconception testing. However, if you or your partner has a family history of certain inheritable diseases, preconception testing can put your mind at ease. Further, preconception testing may cause Dr. Rispler to recommend a preventive plan for preimplantation genetic diagnosis if testing results identify you as a carrier.

Preconception testing involves a simple blood draw or saliva test. Innovative Fertility Center partners with Natera in genetic testing, and preferred methods utilize blood or saliva for preconception testing. Results are generally available within five business days.

Benefits of Preconception Testing with Innovative Fertility Center

1) Non-invasive prenatal testing allows Dr Rispler to examine patient DNA samples to screen for carrier states.

2) Preconception testing may reveal the need for preimplantation genetic diagnosis. With PGD, Innovative Fertility Center embryologists can ensure that only embryos unaffected by genetic disorders are transferred in an IVF cycle.

3) Couples experiencing recurrent miscarriage or a history of failed IVF cycles can utilize preconception testing to uncover previously unknown genetic carrier states that can be treated with PGD or donor eggs and sperm.

Who Needs Preconception Testing?

Dr. Rispler will recommend preconception testing for individuals with a family history of these conditions:

• Cystic Fibrosis
• Canavan Disease
• Familial Dysautonomia
• Tay-Sachs Disease
• Bloom Syndrome
• Fanconi Anemia Type C
• Gaucher Disease
• Mucolipidosis, Type IV
• Niemann-Pick Disease Type A
• Glycogen Storage Disease Type 1
• Sickle Cell Anemia and Hemoglobin C

Your fertility specialist will also discuss preconception testing with individuals of African American, Mediterranean, African or Far East Asian descent; and Jewish women of European descent.

In addition to the peace of mind that testing offers, a multi-disease screening panel, aligned with screening guidelines from ACMG and ACOG, provides actionable results.

Dr. Rispler and Innovative Fertility Center provide preimplantation genetic diagnosis to couples identified as dual carriers of genetic disease.

Contact the office of Innovative Fertility Center to schedule an appointment with Dr. Rispler, a reproductive endocrinologist with more than 2 decades of experience serving LA, Santa Monica and Manhattan Beach.

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