Prenatal Diagnosis of Genetic Disorders

“Will my baby be normal?” That’s the question all parents ask, and some with good reason. Knowing the family history of both you and your baby’s father will allow us to anticipate certain problems that can be minimized with proper care. Today, we have a better chance of diagnosing certain genetically transmitted diseases, thanks to medical technology. A procedure called amnio­centesis, usually performed from 14 to 16 weeks of pregnancy, tests the fluid surrounding the baby and allows us to detect certain diseases and other factors like the sex of the baby. Other highly specialized tests may be required, depending on the family’s medical history.                                       

Genetic and Family History.

There are certain family medical conditions that are important to the health of your baby. The following questionnaire will help us determine if you are a candi­date for special genetic counseling or testing.

You should make note of any questions that you answer “Yes, “and discuss these with us at your earliest appointment.  Check the appropriate answer.

1. Will you be 35 or older by the due date?                                        Yes__No __

2. Have you, the baby’s father or anyone in your family had:

            a. Down’s Syndrome                                                            Yes__No__

            b. Spina bifida or myelomenigocoele (open spine)?                 Yes__No__

            c. Hemophilia?                                                                    Yes__No__

            d. Muscular Dystrophy?                                                         Yes__No__

            e. Mental retardation?                                                          Yes__No__

            f. Sickle Cell Disease?                                                          Yes__No__

            g. Tay-Sachs Disease?                                                         Yes__No__

3. Have you or the baby’s father produced a child born with a defect not listed in question 2 or that was born dead?                                                                                     Yes__No__

 4. Do you, the baby’s father or a close relative in either family have any inherited genetic or chromosomal disorder not listed?                                                      Yes__No__

5. Are you, the baby’s father or a close relative:                                  Yes__No__

a. of Jewish ancestry or a descendant from Eastern European people?                                                                             Yes__No__

b. of Mediterranean ancestry?                                                  Yes__No__

c. of Thalassemia ancestry?                                                     Yes__No__

6. Have you or a previous partner of the baby’s father had three or more miscarriages?                                                                                   Yes__No__

Thank you for taking the time to complete this very important questionnaire. Remember to discuss with us any item that is answered “Yes.”

Back to the Education Main Page