Topic: Medical and Genetic History Copy

The pre-conception counseling session continues, with Dr. Thomas and Mrs. Abbott discussing the following:

Medical history: Illnesses, surgical history, and social history.

Use of cigarettes, alcohol, or drugs, and any medications that would be used in pregnancy to discuss if there are any teratogenic risks.

Chronic underlying medical conditions such as chronic hypertension, diabetes, lupus, etc. (desirable to obtain optimal medical management of the condition prior to conception).

• The degree of glucose control at the time of conception is very important as elevated glucose levels are associated with an increased probability of having a child with congenital conditions compared with the background or “normal” chances for an uncomplicated pregnancy.
• Lupus: renal function is the most important determinant of pregnancy outcome with this condition.

Genetic history:

• In many instances, the patient herself has a genetic condition for which special, early pregnancy care and considerations would be recommended prior to conception.
• In other instances, there is a strong family history of a heritable genetic condition wherein it would be optimal to obtain any necessary medical records in order to counsel the patient as to the likelihood of inheritance should she become pregnant and about the opportunities for diagnosing the condition when she conceives.
• Other indications for preconception genetic counseling might be advanced maternal age, history of multiple miscarriages, or infertility.
• Cystic fibrosis screening should be offered to the patient (especially true for Northern European Caucasians).
• Carrier screening for spinal muscular atrophy (SMA) should be offered to all patients regardless of race or ethnicity.
• Depending upon race/ethnicity, other carrier screening (e.g., hemoglobinopathy, genetic conditions more common in Ashkenazi Jewish individuals) should be offered.
• Expanded carrier screening may be an option.

Immunization history (Rubella; antibodies to Varicella).

Ideal weight and level of fitness. It is also suggested that Folate be taken, such as in a one-a -day vitamin, as this has been shown to dramatically reduce the instances of neural-tube defects and some other congenital malformations.

The avoidance of harmful substances, including exposure to mercury, x-rays, infections with toxoplasma, alcohol exposure, smoking, and drugs.

Specific recommendations for treating an older mother:

• Refer to a reproductive endocrinologist and infertility specialist.  With a woman who is 40, this referral would be made earlier than for a younger woman, if there is difficulty conceiving.
• Inform that older mothers have higher chances for such conditions as Trisomy 21, 18, & 13, bleeding during pregnancy, low birth weight (LBW), and fetal growth restriction (FGR).
• Describe opportunities for prenatal diagnostic screening and testing.
• Offer diagnostic tests for chromosomal conditions.  Some women may prefer to start with screening tests (discuss these tests, including accuracy, risks, and potential psychological impact).