Informed Decisions based on Predicting Genetic Mutations

Why consider Prenatal Genetics

Modern genetics allows us to understand how genetic diseases are inherited based on DNA, genes, and chromosomes. We can now test couples and fetuses for certain inherited disorders, as well as other chromosomal and genetic abnormalities such as Neural Tube defects, Down syndrome, and Cystic Fibrosis.

Couples who are thinking about having a child may consider genetic counseling and prenatal diagnosis before conception to predict any possible abnormalities in their child. Others may use the tests after they conceive to evaluate the condition of the fetus.

People who are at increased risk of passing genetic abnormalities on to their children include:

• Patients with Jewish heritage and of Eastern European descent, African-Americans, Couples of Southeast Asian or Mediterranean origin,
• People with family histories of inherited disorders, or those with previous children with genetic disorders.
• Women who were exposed to toxins that could cause birth defects.
• Women with prior medical conditions or diseases that may affect their fetus, such as diabetes.
• Couples who share a common ancestor.
• Women with a history of multiple miscarriages.
• Couples who have family members with birth defects or severe developmental problems.
• Women who are 35 years and older have increased odd of chromosomal abnormalities
• Women with a history of multiple miscarriages.
• Couples who have family members with birth defects or severe developmental problems

Genetic Screening

If you fit one of the patient profiles described above, then genetic screening may be right for you. The tests used for prenatal genetic screening have virtually no risks. Testing for spina bifida or Down syndrome is done after a pregnancy is established. Pregnancy screening may have some risks, your Ob/Gyn will be able to advice.

If planning In Vitro Fertilization (IVF), we suggest performing genetic screening well in advance of starting IVF medications. This will allow enough time for the development of a custom gene preimplantation genetic diagnosis (PGD) test.

Genetics is still an evolving field. Tests, in most cases, will not point to certainty for a specific problem with a pregnancy, but can point to reasonable probabilities of certain conditions manifesting in your newborn child. In addition to tests, the physician’s experience also comes to bear in evaluating probabilities. In the final analysis, the choice to start / continue a pregnancy is entirely the patients’ and their families. This effort will, however, help in making a more informed decision on your reproductive options.

Visit Information

Dr. Vidya will review your prenatal test results if have had one. Otherwise we will order one for you with one of the labs that we work with.

If the tests show any flags, Dr Vidya will ask you and your partner for family histories about birth defects or chronic illness ( the farther the wider we can consider your family tree, the better). Also discussed will be exposure to toxic substances and medications that you have been taking before or during your pregnancy. If you are satisfied with probabilities discussed in making an informed reproductive decision, then the visit(s) are complete.

If you would like to explore additional areas to get more details on genetics based answers to your child’s health characteristics, then we would undertake appropriate genomic testing and sequencing analysis to get as precise an answer as possible to your queries about your child.

Finally, after your child’s birth and growth phase, our clinic is there is to help you and your family ensure adequate progress in your child’s growth and development. Any unforeseen genetic issues are also addressed at this stage.

Please Contact Us if you have any additional questions or Register in our Secure Patient Portal as a patient and request an appointment.