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Preconception Screening Diagnostic

Genetic screening is available for patients who have a family history of genetic disorders and are attempting to get pregnant.

What is genetic screening?

Genetic screening is the examination of an individual’s chromosomes, genes, proteins and/or other analytes for alterations associated with genetic disorders or conditions.

The specific type of genetic screening recommended is based on your family history, self-reported ancestry, and/or your personal medical history.

What is genetic screening used for?

Genetic screening in this context is to determine whether you are at increased risk for having a child with a particular genetic disorder (carrier screening).

What are the limitations or risks regarding genetic screening?

The genetic screening will not identify all genetic abnormalities. It is specific for only the particular disorder that is being tested. Additionally, as with all testing, it does not provide 100% accuracy.

The physical risks associated with genetic testing are typically small, especially as the tests we order typically require only a blood sample or a cheek swab. In some cases, genetic tests can also reveal previously unknown information about family relationships such as non-paternity or undisclosed adoption. Some patients have concerns about financial consequences of genetic testing such as the potential for discrimination or loss of employment or insurance. In May of 2008, the Genetic Information Nondiscrimination Act was signed into federal law. This offers protection against genetic discrimination in health insurance and employment.

Which screening tests are recommended for me?

  • ­Cystic Fibrosis – Cystic fibrosis is a disorder characterized by pulmonary and gastrointestinal manifestations of varying severity. Although there is a wide spectrum of clinical expression most individuals who have CF experience substantial morbidity and reduced life expectancy. The carrier frequency is 1:29 among Caucasians, 1:46 among Hispanics, 1:62 among African-Americans, and 1:90 among Asian-Americans.

  • ­Spinal Muscular Atrophy - This is a group of inherited diseases that cause progressive muscle degeneration and weakness, eventually leading to death. One in fifty people carry this gene.

  • ­Fragile X Syndrome - Fragile X syndrome is a genetic condition involving changes in part of the X chromosome. It is the most common form of inherited intellectual disability (mental retardation) in boys. Screening is recommended to those with a family history of: fragile X, undiagnosed mental retardation, developmental delay or autism. Screening is also recommended for women that have been diagnosed with ovarian insufficiency, and some groups recommend universal screening.

  • ­Ashkenazi Jewish Panel - this is a panel including multiple disorders such as Canavan disease, Gaucher disease, Tay-Sachs, Fanconi anemia, etc. These disorders are most prevalent in individuals of Ashkenazi Jewish descent

  • ­Hemoglobinopathy - this is a broad group of disorders involving abnormalities of hemoglobin, the oxygen-carrying protein of the red blood cells. This screening is recommended for individuals of African American, Asian, Mediterranean, Middle Eastern and/ or Hispanic descent.

  • ­Sickle Cell Disease - Sickle cell disease refers to a group of disorders involving abnormal hemoglobin. It occurs most commonly in people of African origin. Approximately 1:12 African Americans have sickle cell trait. This screening includes a hemoglobin electrophoresis.

  • ­Karyotype - A karyotype is the characterization of chromosomes based on size, shape and number. This is typically recommended in couples that have experienced multiple miscarriages, repeated IVF failures, or a woman diagnosed with premature ovarian failure. It is also recommended in men with significantly diminished sperm counts or azoospermia (no sperm in the ejaculate.

  • ­Y Chromosome Microdeletion - A Y-chromosome microdeletion screen is a test to determine if there is a portion of the Y chromosome that is missing. The incidence of Y chromosome microdeletions among men with significant sperm abnormalities is between 4-18%. A male with a Y-chromosome microdeletion is typically asymptomatic, although will often have sperm abnormalities. If a male with a Y- chromosome microdeletion conceives a son, his son will likely also demonstrate sperm abnormalities.

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Women who are interested in egg donation may choose to be a Known or Anonymous donor. If you are interested in becoming an egg donor please click the button below and fill out the application.

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Over 25 Years of Success Treating Infertility

Since 1995, we have been an innovator in, IVF, infertility treatment, and genetics care, and have helped thousands of patients worldwide realize their dreams of starting a family.

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Why Choose Embryo Adoption

A more private way to adopt

The process of receiving donated embryos is less obvious to the public which allows for more privacy than traditional adoption.

  • Greater degree of privacy
  • Anonymous
  • More control of timing

More convenient than IVF

Some intended parents may choose embryo adoption for its speed and convenience

  • Fewer procedures than IVF
  • No surgical retrieval
  • Fewer medications

More cost-effective

Embryo adoption is a fraction of the cost of traditional adoption and less than the average cost of IVF

  • Lower cost than traditional adoption
  • Lower cost than most IVF options
  • Lower cost medications

Less waiting

The waiting period for embryo adoption can be shorter than that traditional adoption and often quicker than IVF

  • Shorter waiting times
  • Quicker than IVF
  • Fewer clinic visits

Genetic diversity

In some cases, intended parents may wish to have a child who doesn't share their genetic material for medical reasons or personal ones.

  • Avoid passing on a hereditary disease
  • Choice of genetic makeup
  • Increased potential for a healthy baby

High success rates

Compared to IVF with you own eggs and sperm, using donated embryos often has a similar or higher success rate

  • Typically better outcomes

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