Your Pregnancy After 35 : How Age Affects Your Pregnancy (part 2) - Your Reproductive and Family Medical History

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4. Your Reproductive and Family Medical History

When a genetic counselor asks questions about your reproductive history, he or she seeks information on any type of pregnancy loss, miscarriage, stillbirth or perinatal death (death of the baby at the end of pregnancy or after birth). Other important information can include fertility problems, the type and duration of contraception, and environmental exposures.

Your family history can be important in determining a high-risk situation. Information essential to your genetic counselor includes the following:

a description of the health status of you, your partner and siblings

cause of death of any relatives

age at death of these relatives

any birth defects in relatives

Your family history helps identify abnormalities that occurred in relatives and helps predict the likelihood of these defects occurring in your child.

Ethnic background can be an important aspect of family history. For example, if both partners are of Ashkenazi Jewish descent, there is an increased risk of giving birth to a baby with Tay-Sachs disease. Some people of African and Mediterranean descent are at an increased risk for having a baby with sickle-cell disease.

If you are unsure of all the information a family history requires, ask your parents and other family members for help. By working together, you will be able to provide the data necessary for the most thorough evaluation.

I’m 37; do I need genetic counseling?

The answer to this question depends on many factors. Discuss all your options with your healthcare provider.

5. Consanguinity

Consanguinity (being related by birth to your partner, such as a cousin) can create problems. A related couple may have a high risk of having a child with a genetic birth defect, especially if there is a family history of genetic defects. (First cousins have 1/16 of their genes in common.) If you’re related to your partner, tell your genetic-counseling team.

6. Prenatal Testing

Prenatal testing does not guarantee the birth of a normal baby; it only provides information about malformations or disorders that can be specifically tested for. Some birth defects can’t be found or are difficult to find before a baby is born, such as phenylketonuria, cleft lip and cleft palate. Other problems, such as chromosome abnormalities, may be identified by various tests, including amniocentesis, ultrasound, chorionic villus sampling and fetoscopy.

Testing for a fetal abnormality allows for termination of a pregnancy, if that is desired. Sometimes a prenatal diagnosis may call for prenatal surgery in utero (in the uterus) to correct various conditions, such as kidney blockage or omphalocele (congenital hernia of the navel).

Results learned from prenatal testing can be used to make special arrangements for care of the baby after birth, if necessary. Results may also influence which method of delivery is chosen.

Counseling and support of a couple or family can help prepare them for what lies ahead after baby’s birth. Support can include social services, mental-health counseling (psychiatrist, psychologist, social worker) and spiritual guidance.

For some couples, counseling is the beginning of the grieving process over the loss of the “perfect baby.” Counseling can help a couple begin to deal with the possible death of the fetus or baby, or the challenges associated with a child with special needs.

7. Counseling after Baby’s Birth

When a couple gives birth to a child with a birth defect or a genetic disorder, genetic testing of the couple may be recommended after the birth, especially if they desire more children. Testing may alert the couple to problems that could arise in subsequent pregnancies.

Most infants with problems are identified at birth or shortly afterward. Babies born with problems are usually grouped in one of three categories:

babies with obvious malformations at the time of birth

babies who are “sick” or have a difficult time immediately after birth

babies who appear normal at birth but develop abnormalities later

An accurate diagnosis is important. Helpful sources of information include family history, laboratory results, physical exam, pregnancy history (including medications, complications and environmental exposures), growth and development history during the pregnancy and after the birth, and photographs of the baby.

This information can provide guidance about what lies ahead and various treatments that might be available. Genetic counseling after a baby is born with a birth defect is most helpful in answering the question, “What are the chances of it happening again?”

If the risk of recurrence of a problem is low, some families choose to have more children. If the risk is high or if prenatal diagnosis is not available, a couple may decide not to have children.

In some cases, a couple may opt for donor insemination, if that might prevent a problem. Donor insemination uses donor sperm to achieve pregnancy. The partner’s sperm is not used if he has a chromosomal disorder or is a carrier of a chromosomal disorder. Or a couple may choose donation of eggs if the woman has a genetic problem.

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