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​Genetic Disorders

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At the Center for Fertility and Reproductive Endocrinology (CFRE), we follow the American College of Obstetricians and Gynecologists recommendations for preconception genetic counseling. 

There are several ethnic populations in which screening for inherited genetic disorders should be performed prior to conception, as the incidence of these disorders are higher. 

First, a sample of blood will be taken by both the patient and his or her partner.  If either the patient or their partner is found to be screen positive, we then refer the couples to the Center for Medical Genetics and Genomics, also located in Magee-Womens Hospital. 

Depending on the inheritance pattern of the disorder, we can offer In Vitro fertilization followed by Pre Genetic Diagnosis to rule out the presence of the disorder in the resultant embryos before their replacement into the uterus.

The genetic disorders that we routinely screen for pre-conceptionally include:

Cystic Fibrosis
We offer information regarding cystic fibrosis screening to all of our couples, and following informed consent, will screen both the patient and their partner.  We specifically recommend the test when both partners are Caucasian, European, or of Ashkenazi Jewish descent, or if either partner has a family history of the disorder. 

Hemoglobinopathies, including Thalassemia and Sickle Cell Anemia
We routinely offer carrier screening, which includes a complete blood count and hemoglobin electrophoresis test (both are blood tests), for hemoglobinopathies in individuals of African, Southeast Asian, and Mediterranean descent, or in patients with a known family history of these disorders. 

In addition, if a patient is of Ashkenazi Jewish descent, we recommend Carrier screening for the following:

  • Tay Sach’s disease.
  • Canavan disease.
  • Cystic fibrosis.
  • Familial dysautonomia.
  • Mucolipidosis IV.
  • Niemann-Pick disease type A.
  • Fanconi Anemia group C.
  • Bloom syndrome.
  • Gaucher’s disease.

We are happy to discuss details of screening for reproductive-age couples. Contact us for more information.