If you receive abnormal results from the first or second trimester screening panels, your doctor may recommend that you speak to a genetic counselor, who will be able to help you better understand what the results mean, the best way to establish an accurate diagnosis, what the procedures entail, what the risks are, and what your options will be once a diagnosis is established. The two most common invasive fetal tests are amniocentesis and chorionic villus sampling.

Amniocentesis can detect chromosomal disorders like Down’s Syndrome (Trisomy 21), neural tube defects such as spina bifida, and other genetic disorders like cystic fibrosis and Tay Sach’s disease. The DNA obtained from amniocentesis can also be compared to the potential father’s DNA to establish paternity. The test is usually done between 14 and 20 weeks, though it can be performed earlier or later than this depending on the reason for testing. The procedure involves inserting a long but very thin needle through the abdominal and uterine wall and drawing a small amount of amniotic fluid out. The fluid contains cells from the fetus and is sent to a lab for analysis. The whole procedure takes place under the guidance of ultrasound to minimize the risk of hitting the fetus or placenta with the needle. It is a commonly performed and fairly safe procedure; however, it does increase the risk for miscarriage slightly if an infection develops in the uterus, labor starts, or the membranes rupture prematurely. The risk is documented as somewhere between 1 in 200 and 1 in 400 depending on the facility. More common side effects include mild cramps and light leakage of amniotic fluid for 24 hours or less.

Chorionic Villus Sampling (CVS) can also detect chromosomal and genetic disorders as well as establish paternity. It cannot, however, test for neural tube defects. This test is usually performed earlier than amniocentesis (between 10 and 14 weeks) in women who are at high risk for genetic or chromosomal disorders based on age, race, or family history, as well as in women who had an abnormal result on their first trimester nuchal translucency and lab testing. The procedure involves removing chorionic villi cells from the placenta. These cells contain the same DNA as the fetus and can therefore be analyzed to determine if the fetus has any genetic or chromosomal abnormalities. The most common way to obtain these cells is by guiding a thin catheter through the cervix and into the placenta under the guidance of ultrasound. However, the needle can also be guided through the abdominal wall and into the placenta, which is recommended for women with uterine fibroids or a tilted uterus. Like amniocentesis, CVS is a common and fairly safe procedure but does carry a risk for miscarriage, occurring in 1 out of 100 procedures. It is not recommended for women with an active STD infection, who are carrying multiples, or who have had vaginal bleeding during pregnancy. Side effects include infection, spotting, and cramping.

Invasive tests are relatively safe but do pose a slight risk for miscarriage. It is important to discuss these procedures with your doctor before deciding whether you do or do not want to have them performed. You should consider the risks, the potential benefits, and what your options will be if you get a positive result. Will the information that you obtain from the test change your decision-making process or medical care? If you still feel uncertain after discussing with your doctor, consider making an appointment with a genetic counselor, who might be able to make things more clear. It is a tough choice, where the potential diagnosis, your values, and life experiences all come into play, but it is ultimately your decision to make.

Giving birth is the exciting ending of nine months of pregnancy and the even more exciting beginning of parenthood, so it seems natural that you would want it to be perfect. However, child birth can be a very unpredictable event, and it is important to realize that it may not be possible for things to go as perfectly as you imagine them. For example, you might write in your birth plan that you would like to have a natural vaginal birth, and that might be exactly what you get. However, if you or the baby is in danger, the doctor may be forced to do a c-section to get the baby out as quickly as possible and keep everybody safe. Doctors undergo years of study and training to deliver babies as safely as possible, and their medical expertise and recommendation should definitely be taken into consideration even if it contradicts your birth plan. Therefore, it is important to feel comfortable with your doctor and ultimately to trust his/her judgement.

However, a birth plan can still be a very effective tool in guiding your special day. Many women feel much more calm about the process if they have an idea about how things will unfold.

Aspects of the delivery that you have a fair amount of control over, though you will need to make your wishes to known to family and friends.
● Who will watch your other children (if you have any)?
● What do you need/want to bring with you to the hospital?
● At what point will you go to the hospital? Do you want to get there as soon as possible or do you want to labor at home for awhile? Does your doctor have specific instructions (ex: contractions every 5 minutes for at least an hour) for when you should go in? Is there a 24 hour phone number you can call if you’re uncertain?
● Who do you want to be in the room with you leading up to and during the delivery? (Some hospitals have limits on the number of people allowed.)
● Do you want family and friends to be in the waiting room while you’re in labor or would you rather them wait at home and have them come visit later?
● Are you okay with having visitors immediately after giving birth or would you rather have some time alone with the baby and your significant other first?
● Do you want someone to videotape? And if so, where do you want them focusing that camera?
● Are you okay with medical or nursing students being in the room?
● Do you have special music or a DVD that you would like to be played while you labor?
● Once the baby is born, do you plan to feed him/her with breast milk or formula? Do you want the baby to stay with you overnight or would you rather he/she go to the nursery?

Tentative plans should be made regarding:
● Do you want pain medication? An epidural? Just Tylenol?
● If you do not want pain medication, how will you cope with the pain? Walking? Different positions? A tub or shower? Breathing and relaxation techniques. If you are planning to go this route, a natural birthing class may be beneficial.
● Who do you want to cut the umbilical cord?
● Do you want someone to announce the baby’s gender to you? Or do you want to check it out yourself?
● Do you want to hold and/or nurse the baby right away or do you want him or her to be cleaned up first?
It is important to keep in mind that you might change your mind about pain medication as your labor progresses and that’s okay. If the baby’s safety or health are in jeopardy, it is likely that he/she will be treated and stabilized before you are allowed to hold him/her. Therefore, it is important to maintain a flexible state of mind when making these plans.

Medical preferences can be included in your plan, or you could just leave these up to your doctor:
● Are you open to an episiotomy if your doctor recommends it?
● Are you okay with an assisted delivery (ex: forcepts)?
● Are you okay with using drugs or having your water broken in order to speed up labor?
● Do you want to be continually hooked up to monitors to measure your contractions and the fetal heart rate or would you rather be free to walk around? (If you get an epidural, you will most likely be confined to the bed.)
● Find out your doctor’s policy on induction and then decide whether it’s something you would consider if you had the choice. Some doctors may allow induction as early as 38 weeks if you are antsy, while others require you to wait until 40 or 41 weeks unless there is a medical reason to deliver sooner (ex: pre-eclampsia, fetal stress, or intra-uterine growth restriction.) Many doctors will also require induction if labor has not started on its own by 41 or 42 weeks for several reasons: the baby is more likely to have his/her first bowel movement before birth, which can cause breathing problems for the baby because he/she will likely breathe it in from the amniotic fluid. The placenta begins to deteriorate, meaning the baby’s nutrient supply begins declining. Amniotic fluid levels can become low. The post-term baby is often also bigger than average and is therefore at increased risk for getting stuck during a vaginal delivery, requiring an assisted delivery or c-section, or breaking a bone (usually clavicle).

Having a plan and knowing what to expect can go a long way in making you feel confident and relaxed heading into delivery day. However, you don’t want to be so set that you’re devastated if there is a deviation from the plan or that you insist on something that puts you or the baby in danger. When making your plan, focus most of your attention on the aspects that you can control and be flexible with the rest!