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Preconception genetic counseling to discuss risks of inherited conditions.

Understanding the risk factors of inherited genetic disorders is crucial for evaluating reproductive options. It is especially relevant for inter-familial marriage.

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Expanded carrier screening (ECS) provides critical insights that may increase the likelihood of a successful and healthy pregnancy.

 

These services are offered to married couples or those likely to marry within the family.

GENETIC

SERVICES

  • Couples may require a consultation for the following reasons:

    • A first degree relative  (mother, father, siblings or children have or have had cancer)

    • A family member is known to have an inherited cancer

    • A relative has more than one type of cancer

    • Prenatal non-invasive testing (NIPT) or invasive testing (CVS/amniocentesis) is offered or requested

    • Prenatal diagnosis of a known familial genetic condition is requested

    • There is a concern about exposure to drugs, medication, chemicals or radiation that might cause congenital conditions.

    • Infertility

    • Delayed or absent puberty

    • Recurrent miscarriages

    • Advanced maternal age

    • A High-risk pregnancy due to abnormal screening results

    • Familial cancer

    • Marriage within the family

    • Family history of a genetic condition

    • Family members with intellectual disability and/or developmental delay

    • Carriers of a faulty gene such as cystic fibrosis or thalassemia

    • Changes in an individual’s genetic material (chromosomes or genes)

    • Unexplained intrauterine growth retardation

    • Birth defect or physical abnormality

    • Dysmorphic features (unusual physical features)

    • Failure to thrive (growth problems)

    • Unusual growth pattern; overgrowth, short stature

    • Hearing loss or deafness

    • Congenital eye defects or blindness

    • Unusual skin lesions or pigmentation

    • Clinical exome

    • Whole exome sequencing

    • Cystic fibrosis genetic test

    • Familial Mediterranean fever genetic test

    • Thalassemia

    • Sickle cell anemia

    • Karyotype

    • CGH microarray

    • Blood related couple screening (carrier screening for 300 autosomal recessives and some X linked familial diseases)

    • Neuromuscular disease genetic panel

    • Epilepsy genetic panel

    • Mental retardation panel

    • Congenital deafness panel

    • Ehler Danlos panel

  • Cancer Genetic Testing is a difficult, yet important subject to address.

    We will be able to guide you based on your family history and provide you with a better understanding of such medical tests to make an informed decision.

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    Determining the underlying genetic cause of the cancer whether present or not, will assist in determining the next course of action.

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    PLEASE  READ MORE BELOW

    • A first degree relative like your mother, father, siblings or children have or have had cancer

    • A family member is known to have an inherited form of cancer

    • A relative has more than one type of cancer

    • Family member(s) who have had cancer detected at an unusually young age

    • Several members who have the same type of cancer

    • Presence of birth defects that are known to be associated or linked to cancer

SPECIALTIES

Cosmetic
Gynecology
Prenatal
Invasive Tests
Obstetrics
Care
Urogynecology
Treatment

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