As you've heard many times, "An ounce of prevention is worth a pound of cure." The same is true when it comes to making decisions before a first pregnancy or between pregnancies. A preconception consultation looks at the total you-those medical, genetic, physical, nutritional, and environmental factors that can affect whether you can and should consider pregnancy. If areas of concern are identified, our team can work with you and your healthcare provider to improve your health and lifestyle and increase your chances for a successful pregnancy.

We'll Look at the Total You

• Obstetric and gynecologic history
• Medical history
• Occupational history
• Psychosocial history
• Genetic history
• Medication review
• Review of diet and exercise
• Blood tests, ultrasound exam, and other diagnostic testing

Genetic counseling can be done during a preconception consultation or at any time during a pregnancy. Based on the family histories of you and your partner, and sometimes another test that involves swabbing the inside of your cheek, the counselor can tell you what the odds are that your baby might have an inherited disease like hemophilia, cystic fibrosis, Tay-Sachs, sickle cell anemia, beta-thalassemia, and muscular dystrophy.

This procedure uses sound waves to create a picture of the baby. In the first trimester, it is used to give a due date, tell how many babies there are and how they're developing, and to look at your ovaries and uterus. Later in the pregnancy, ultrasound is used to monitor your baby's growth, position, and development, as well as to see the placenta (sac), amniotic fluid (water), and your pelvis. In low-risk pregnancies, ultrasounds are often performed at the following intervals:

• 6 to 8 weeks for due date, number of babies, how they're developing
• 11 to 13 weeks for nuchal translucency, a test that measures the thickness in the back of your baby's neck. It determines your baby's risk for Down syndrome
• 13 to 16 weeks for early anatomy-measures the baby's structure and size
• 20 to 22 weeks for routine anatomy
• 32 weeks for fetal growth-to measure how the baby is growing and to check the amount of amniotic fluid

Types of Ultrasound Exams

• GYN ultrasound: This exam looks at your uterus, ovaries, and cervix and is done before you become pregnant. It can be used to diagnose ovarian cysts, ectopic pregnancies, fibroids, and problems with the lining of your uterus.
• Ultrasound for viability: Early in the pregnancy, this ultrasound checks for the due date, number of fetuses, and your baby's heart rate.
• Early Anatomy Scan: This ultrasound may be performed on your abdomen or using a probe that is put into your vagina. This test is used to see if the baby is developing normally and if your ovaries and uterus are normal.
• Routine anatomy scan: This scan is usually performed at 20 to 22 weeks, to see all of your baby's anatomy, including its heart, stomach, kidneys, and face.
• Targeted ultrasound: This ultrasound is done as part of a full anatomic evaluation, but may look at one area more closely. It is often is used for a second opinion.
• Ultrasound for fetal growth: By measuring your baby's abdomen, head, and thigh bone, we can estimate its weight. This is often done throughout the pregnancy in women at risk for problems with fetal growth.
• 4D ultrasound: This type of ultrasound lets you see "real-time" video images of your baby. Routine 4D or 3D ultrasound is not usually done, but it can be useful to see certain conditions in the baby, like cleft lip. Some patients may request it for their curiosity.
• Transvaginal ultrasound: This is an ultrasound in which a probe is inserted into your vagina for a clearer view of the baby, the placenta, and your cervix.

First Trimester Tests: Nuchal Translucency and Blood Tests

• The Combined Screen: The best way to screen for Down Syndrome and other conditions, known as Trisomy 13 and 18, in the first trimester is with an ultrasound measurement of fluid in the back of your baby's neck (nuchal translucency) plus testing certain markers in your blood. The ultrasound is done on the abdomen and there is no risk. The tests are usually done at weeks 11 to 13 weeks 13. Blood tests are sent to the lab, and the results are reported back a few days after the ultrasound. A nasal bone measurement may be done at the same time as the nuchal translucency measurement as another test for Down Syndrome.
• Instant Risk Assessment (IRA): This test provides an instant answer as to the risk of Down Syndrome by combining the results of blood previously drawn and sent to a lab, with the results of an ultrasound performed at our center. You can have your blood drawn in your doctor's office, or you can prick your finger and mail it in to the lab yourself. Then, when you come to Mount Sinai for your nuchal translucency screen, we'll tell you the results right away.
• Modified Sequential Screen: In this test, you get a result back in the first trimester like you would with a combined screen, but when the quad screen is analyzed (see below), it looks at results from both the first and second trimesters. This means that the false positive rate will be lower than with the combined screen.

Second Trimester Tests: Quad Screen Integrated Down Syndrome Screen

• Quad Screen: This test of your blood is done between weeks 15 and 18 and looks for possible disorders, including Down Syndrome. It is called the quad screen because it measures four markers in your blood. Results may be reported alone, or combined with the first-trimester screen results.
• Integrated Screen: If you choose to have first and second trimester results compared and reported at the same time, the detection rate for genetic disorders will be very high and the chance of a false-positive report very low. The disadvantage is that you do not get the benefit of finding out the results of your first trimester screen early.

A pregnant woman might want to have her baby's chromosomes checked to make sure that they are normal and that the baby does not carry a genetic disease for which it is at risk. The two main tests are CVS (chorionic villus sampling) and amniocentesis. Both have similar risks, but CVS can be performed earlier, at 10 to 12 (or more) weeks.

• CVS: This test is done at about 10 to 12 weeks. During an ultrasound, a small amount of the placenta is sampled, either by putting a thin tube through the vagina and cervix or by inserting a thin needle through the abdomen into the placenta. The procedure is not uncomfortable, and usually takes less than a minute.
• Amniocentesis: This procedure is usually done early in the second trimester of pregnancy (16 to 18 weeks) and is performed to diagnose genetic disorders. An ultrasound guides this procedure in which a thin needle is put into the abdomen to take out a small amount of the fluid that surrounds the baby. It may also be performed in the third trimester to estimate whether your baby's lungs have matured.
• Percutaneous umbilical blood sampling (PUBS): This ultrasound-guided procedure is usually performed after the 18th week of pregnancy. It may be recommended when other tests for abnormalities in the baby are inconclusive. A thin needle is inserted through your abdomen into the baby's umbilical cord. Blood is taken from the fetal umbilical cord to test for a variety of problems.

If you have high blood pressure, diabetes, or your baby is smaller than expected, your doctor may recommend that your baby be evaluated to see if it is doing fine inside the uterus. These tests are noninvasive and have no risks.

• Nonstress Testing (NST): During NST, both your baby's heart rate and your contraction pattern are monitored. By looking at the patterns tracing, we can predict that the baby will be fine for the next week.
• Biophysical Profile: This group of tests combines an ultrasound to see your baby's movement, body tone, breathing, and the amount of amniotic fluid, with a nonstress test.
• Doppler Study: This ultrasound is done in the second and third trimesters to look at how your blood or your baby's blood is circulating. It is usually used to see how the placenta is doing, but can be used to screen for anemia in fetuses at risk.

• Multifetal Pregnancy Reduction and Selective Termination: This procedure may help to reduce the risk of miscarriage, stillbirth, premature delivery, disability, and other complications. In women who are carrying more than one baby, it involves reducing the number of viable fetuses.
• Fetal Intrauterine Blood Transfusion: If you've been told that your baby is anemic due to a different blood type, an infection, or another cause, we might recommend a fetal intrauterine transfusion. This procedure is guided by ultrasound. A thin needle is inserted through your abdomen into the umbilical cord, and blood is given to the baby.
• Fetal Shunts: If you've been told that your baby has fluid in the lungs or has a bladder obstruction, we might recommend a fetal shunt so that the fluid can drain. This procedure is guided by ultrasound and is day surgery.
• Radiofrequency Ablation and Cord Coagulation: These procedures are used for the reduction of a twin when a rare condition occurs in which one twin is not developing properly because of problems with blood flow in a shared placenta.

There are many ways we can help to coordinate your care with other physicians in other specialties. If you have complicated underlying medical disorders, we often set up a joint meeting with your doctors and the anesthesiologists to ensure you receive the best care during your delivery.

• Fetal Heart Program: If your baby has been diagnosed with a cardiac abnormality, we'll work with the pediatric cardiologist to plan out the best care throughout your pregnancy and at delivery.
• Genetics: We coordinate with Mount Sinai's renowned genetics department to make sure you receive the best in prenatal diagnosis and follow-up after delivery, if needed.
• Pediatric Surgery and Pediatric Urology: Certain conditions that may require surgery after delivery also require special attention while you're pregnant. We work with the pediatric surgeons so that you'll have the best care before, during, and after delivery.

Education is a critical component of any maternal and fetal medicine program. At The Mount Sinai Medical Center's Maternal Fetal Medicine Program, we know that some pregnancies require special attention.

Diabetes Management
If you have diabetes, you also have different needs during pregnancy. That's when teamwork is most important. Our Maternal Fetal Medicine Diabetes management team includes perinatologists, nurse practitioners, nurses, and nutritionists who will work with you to get good blood glucose control.

Your care begins with a review of your history and laboratory tests. Then we'll develop a customized plan just for you, based on all of the information. You'll learn how diabetes affects pregnancy, and how pregnancy affects diabetes. We'll help you follow a detailed meal plan, and teach you how frequent home blood glucose monitoring can ensure tight control.

Throughout your pregnancy, you'll visit with various members of our team. Regular ultrasound exams will assess your baby's anatomy and growth, and periodic testing will ensure the healthy growth and development of your baby and you, too.

Multifetal Pregnancy Program
Carrying more than one baby increases the risk of certain conditions, such as preterm labor, preeclampsia, suboptimal fetal growth, and gestational diabetes. The Multifetal Pregnancy Program will address your specific needs. We'll review nutrition and weight gain, and reduce your risks through education and frequent evaluations. We'll follow your pregnancy with ultrasound assessments every 2 to 4 weeks. In that way, you'll be more likely to carry your babies to term. In turn, they'll be more likely to have a higher birth weight. Our goal is healthier babies and mothers.