During your first prenatal visit, your practitioner discusses with you your medical and obstetrical history. She asks about various aspects of your physical health, as well as elements of your lifestyle that may affect your pregnancy.
Lifestyle
Your practitioner asks about your occupation to find out whether your job is sedentary or active, whether you spend your days standing or lifting heavy objects, or whether you work nights or long shifts. She also asks you about your general lifestyle — for example, smoking, heavy alcohol use, dietary restrictions, and exercise patterns.
Date of your last menstrual period
Your practitioner questions you about the start date of your last menstrual period to determine your due date. If you don’t know exactly when your last period began, try to remember the exact date of conception. If you’re unsure about either of these dates, your practitioner may want to check on how far along you are by scheduling an ultrasound exam.
Obstetrical and gynecological history
Your provider will ask you about your obstetrical and gynecological history, including any prior pregnancies and any experiences with fibroid tumors, vaginal infections, and other gynecological problems. Your history can help determine how best to manage this pregnancy.
Pregnancy after infertility treatment
If you conceived with infertility treatments, inform your practitioner of this during your first prenatal visit because it brings up several points that need to be addressed. Most of the impact of infertility treatment on pregnancy outcomes is related to the higher incidence of multi-fetal pregnancies — twins and more.
Medical problems
Your practitioner asks you about any medical problems you have had and any surgeries you have undergone, including problems that aren’t gynecological in nature. Certain medical conditions may affect pregnancy, and others don’t. She also asks you about any allergies to medications you may have. Tell your practitioner so she can know everything about you and your health.
Family medical histories
The family medical histories of both you and the baby’s father are important for two reasons. First, your practitioner can identify pregnancy-related conditions that can recur from generation to generation, like having twins or exceptionally large babies. The other reason is to identify serious problems within your family that your baby can inherit. Blood tests can screen for some of these problems, such as cystic fibrosis.
Other available genetic screening tests include:
Fragile X: Fragile X syndrome is the most common inherited form of mental retardation. The mental retardation can vary from learning disabilities to severe disabilities. Fragile X syndrome is also the most common known cause of autism, or autistic-like tendencies.
Spinal Muscular Atrophy (SMA): Spinal Muscular Atrophy (SMA) is an autosomal recessive neurodegenerative disorder that occurs due to degeneration of nerve cells in the spinal cord. The disease is caused by mutations in a gene known as SMN1 (survival motor neuron gene 1).
Expanded Carrier Screening for other genetic diseases: Several companies have come out with tests to screen for over 100 different genetic disorders. Almost all are autosomal recessive, meaning that you and your partner would have to be carriers for there to be a 1 in 4 chance of the fetus inheriting the disease. You may want to discuss the option for screening with your healthcare provider, as the test has to be ordered by a healthcare professional.
Ethnic roots
Even if you and your partner have family histories that are free of any known genetic disorders, your ethnic backgrounds are important because some genetic disorders occur more frequently in one ethnicity than others.
Jewish people of Eastern European descent, for example, are ten times more likely than others to carry the rare gene for Tay-Sachs, a disease of the nervous system that is usually fatal in early childhood. French Canadians and Cajuns (from Louisiana) also have a higher-than-normal risk of carrying this gene. Most of the time, a simple blood test can determine whether you’re a carrier of this disease.
Although Tay-Sachs and some other conditions are found more frequently among the Jewish population, individuals from other ethnic groups can still be carriers, but that is much less common. For this reason, even if only one member of a couple is Jewish, both should still be tested, if possible.
Although at this time only Tay-Sachs, cystic fibrosis, Canavan disease, and familial dysautonomia testing is recommended by the American College of Obstetricians and Gynecologists, here is a list of genetic disorders for which screening is available to couples of Jewish descent:
Tay-Sachs
Cystic fibrosis
Canavan
Familial dysautonomia
Gaucher
Neimann-Pick
Mucolipidosis IV
Fanconi anemia
Bloom syndrome
Familial hyperinsulinemia
Lipoamide dehydrogenase deficiency
Maple syrup urine disease
Glycogen storage disease 1a
Nemaline myopathy
Usher syndrome
Another ethnically selective medical condition is sickle-cell anemia, a blood disorder that’s especially prevalent among people with African or Hispanic ancestors. This condition, too, is recessive, so both members of a couple must be carriers for the baby to be at risk of inheriting the disease.
People whose ancestors come from Italy, Greece, and other Mediterranean countries are at elevated risk of having — and passing to their children — genes for the blood disorder beta-thalassemia, also known as Mediterranean anemia or Cooley’s anemia.
Among Asians, the analogous blood problem is alpha-thalassemia. Both of these disorders produce abnormalities in hemoglobin (the protein in red blood cells that holds onto oxygen) and, therefore, result in varying degrees of anemia. Like Tay-Sachs and sickle-cell anemia, both parents have to carry the gene in order for their baby to be at risk of having the disease.
The risks of inheritable diseases overlap from one ethnic or geographic group to another. Genes get passed around among the various populations whenever the parents are from different ethnic groups. But you can roughly gauge whether your ancestry puts you at an elevated risk of carrying genes for certain diseases.