• Services

Services Provided At Our Center

servicesWe are dedicated to providing our patients with the highest level of specialized consultative care throughout their pregnancies, using the most advanced technology to provide these services. There are important differences between genetic screening and diagnostic testing options.

We use the latest technology, which includes HDlive. HDlive is an extraordinary rendering method generating realistic images of the human fetus. Through the use of an advanced illumination model, HDlive supports a moveable virtual light source and advanced skin-rendering techniques.

All of our physicians have special training in performing obstetric ultrasound examinations and have extensive experience in managing pregnancies where ultrasound abnormalities are found. In addition, all of our ultrasound technicians are registered diagnostic medical sonographers.

First trimester screening

This testing can occur in both the first and/or second trimesters of pregnancy and may include blood work, ultrasound, or both.

Cell-free DNA testing

(Aka non-invasive prenatal screening) is a relatively new technology to screen for Down syndrome and certain other chromosome conditions without a risk of miscarriage to the pregnancy. Blood from the patient is drawn any time after 10 weeks of pregnancy and results are available within approximately 14 days. The detection rate for Down syndrome is higher than with routine prenatal screening, but is still not as accurate or comprehensive as an invasive procedure such as CVS or amniocentesis.

Chorionic villus sampling (CVS)

couple1This is a test performed at approximately 11 to 13.5 weeks of gestation to determine whether the fetus has certain conditions. CVS is often offered when the mother is age 35 or older, other prenatal screenings may have revealed a risk that the baby has an inherited or congenital condition, an abnormality is seen on ultrasound, or if any inherited conditions run in either of the parents’ families. It is typically used only to diagnose chromosome conditions such as Down syndrome, trisomy 18, and trisomy 13. If indicated, however, it can be used to test for many other conditions. These conditions include, but are not limited to: cystic fibrosis, sickle cell disease, fragile X syndrome, spinal muscular atrophy, Tay-Sachs disease, and hemophilia.

Additional testing, called a microarray, can be performed on the CVS at the patient’s request and can detect hundreds of additional genetic disorders.
The chorionic villus is placental tissue. A small sample is removed for biopsy, either via the cervix or the abdomen. An ultrasound is used for guidance during the procedure. Most patients report some discomfort and pressure, but the procedure only takes a few minutes. Any discomfort is usually gone within the first few hours after the procedure.

While CVS is a common form of testing considered safe when administered by an experienced physician, it is associated with some risks. Potential complications of CVS may include miscarriage, bleeding, infection, membrane rupture, and Rh incompatibility in the mother.

This procedure is usually performed in the first trimester (between approximately 10-1/2 weeks to 14 weeks gestation). CVS can be performed in two different ways:

  • Transcervically (through the cervix) using a flexible catheter
  • Transabdominally (through the maternal abdomen) using a thin needle

Both techniques use continuous ultrasound guidance. The catheter or needle is placed within the placenta (afterbirth) where the sample of chorionic villi is obtained which can then be sent for genetic testing.

What are the risks to my baby?

Any diagnostic procedure carries some risk. We will explain the test and risks so you can make an informed decision about whether to proceed.

Will I need to have a full bladder?

Yes, a full bladder makes it easier to do the test, so your doctor may recommend drinking a full glass or two of water about an hour before the test.

When will I get the results?

A laboratory will assess the CVS sample for any indications of abnormalities in the chromosomes and/or DNA. Some preliminary results are available in 72 hours and the final results are typically ready in 7-14 calendar days. CVS primarily provides information about chromosomal disorders such as Down syndrome, trisomy 18, and trisomy 13, but when indicated, can also test for over 200 other conditions, including: cystic fibrosis, sickle cell disease, fragile X syndrome, spinal muscular atrophy, Tay-Sachs disease, and hemophilia.
Additional testing, called a microarray, can be performed on the CVS at the patient’s request and can detect hundreds of additional genetic disorders.

Amniocentesis

couple2Amniocentesis is a procedure performed to obtain genetic information about a developing fetus by collecting a sample of amniotic fluid. This fluid contains cells which, when studied in a laboratory, can tell physicians if certain genetic conditions are present in the baby.

Amniocentesis is often used when the mother is age 35 or older, other prenatal screenings may have revealed a risk that the baby has an inherited or congenital condition, an abnormality is seen on ultrasound, or if any inherited conditions run in either of the parents’ families. It is typically used only to diagnose chromosome conditions such as Down syndrome, trisomy 18, and trisomy 13. If indicated, however, it can be used to test for many other conditions. These conditions include, but are not limited to: spina bifida and other neural tube defects, cystic fibrosis, sickle cell disease, fragile X syndrome, spinal muscular atrophy, Tay-Sachs disease, and hemophilia.

Additional testing, called a microarray, can be performed on the amniocentesis at the patient’s request and can detect hundreds of additional genetic disorders.

What are the risks to my baby?

Any diagnostic procedure carries some risk. We will explain the test and risks so you can make an informed decision about whether to proceed. When it is performed during the optimum time frame, the risk of miscarriage, as well as other complications such as fetal or maternal injury, infection, and preterm labor, is small.

When is this test performed?

This procedure is usually performed in the second trimester of pregnancy (starting at about 15 week’s gestation). It is usually performed between 16 and 20 weeks of pregnancy, although it can be performed later if there is an indication. Although it used to also be performed even earlier in the second trimester, this is no longer recommended as there is a higher risk of miscarriage and other complications.

How is the test performed?

1. Using ultrasound guidance, a thin needle is placed into the maternal abdomen and positioned within the amniotic fluid surrounding the fetus.
2. A sample of amniotic fluid is obtained which can then be sent for genetic testing.
3. Amniocentesis can also be used to test the amniotic fluid for signs of fetal infection.
4. Amniocentesis can also be performed in the late third trimester of pregnancy to evaluate fetal lung maturity.

Will I need to have a full bladder?

No, but sometimes a partially full bladder makes it easier to do the test, so we may advise you to not empty your bladder during your visit.

When will I get the results?

The results of an amniocentesis are considered to be nearly 100% accurate for chromosome abnormalities, although there may be technical difficulties that prevent proper collection of amniotic fluid and cells. Some preliminary results are available in 72 hours and the final results are available within 7-14 calendar days following the procedure.

What do I expect?

The procedure takes a few minutes to perform, and most women report that it is painless, although others may experience cramping or pressure within the uterus. Any discomfort typically is gone within a few hours following the procedure.

After an amniocentesis, we advise our patients to go home and relax for the remainder of the day. The following day, patients can resume their normal activities unless otherwise directed by their doctor.

Ultrasound

ultrasoundWe have the ability to screen and test for maternal or fetal complications using state-of-the-art ultrasound (including 3D and 4D capabilities) in conjunction with diagnostic testing as needed. We provide preconception consultations, gynecologic ultrasound evaluations as well as advanced care for complicated maternal-fetal conditions and multiple gestations.

Obstetrical ultrasound is a safe, noninvasive procedure that uses sound waves to create images of the fetus, placenta and amniotic fluid. These images can be viewed in real time on a computer monitor by patient and doctor. An obstetrical ultrasound is often performed several times throughout pregnancy to monitor the growth and development of the fetus. During the first trimester, ultrasound can determine the age of the fetus or detect some potential birth defects. Later in the pregnancy, regular ultrasound exams measure the size (and position) of the fetus, placenta and amniotic fluid to help ensure that the delivery will not have any major complications.

An obstetrical ultrasound can be performed in your doctor’s office during a regular visit. This procedure can be performed transabdominally or transvaginally, depending on the individual patient. A transabdominal ultrasound involves applying a gel to the lower abdomen and moving a transducer across the skin. This type of exam requires a full bladder that cannot be emptied until after the procedure is over. Transabdominal ultrasounds take 30 to 60 minutes to complete.

A transvaginal ultrasound involves inserting a transducer into the vagina and rotating it for a comprehensive view of the fetus and surrounding organs. Patients may experience some mild pressure similar to that experienced during a regular gynecological exam. There are no special preparations needed for this procedure, and it can usually be completed in 15 to 30 minutes. A transvaginal ultrasound can provide more detailed images of the uterus and ovaries and is especially useful during the early stages of pregnancy.

Ultrasound results are immediately visible on a computer screen for the doctor and patient to view together. More detailed results are usually available within one to two days, which your doctor will analyze for any additional information. Normal results will show a healthy fetus that has a normal size, heart and breathing rate and no visible birth defects.

If abnormal results occur, your doctor may perform additional testing or a procedure to address the abnormality. Ultrasound can detect problems including:

  • Signs of Down syndrome and other severe chromosome problems
  • Ectopic pregnancy
  • Intrauterine growth restriction
  • Placenta previa
  • Placental abruption
  • Pregnancy tumor
  • Too little amniotic fluid (oligohydramnios)
  • Overabundance of amniotic fluid (polyhydramnios)

There are no major risks or complications associated with an obstetrical ultrasound for mother or fetus. Ultrasounds are one of the most commonly performed diagnostic procedures and have been used for years in fetal monitoring and for many other purposes. There is no pain, needles or ionizing radiation used during this procedure, eliminating the common risks of other diagnostic procedures.

Genetic Carrier Screening

We have two copies of every gene. A carrier is an individual who has inherited a mutation in one, but not both, of those copies. The copy without a mutation serves as a “back-up” and the carrier usually shows no problems from the mutation. If an individual has a mutation in both copies of the gene, then s/he will most likely show signs of the condition and is considered to be affected with the genetic condition. This phenomenon of carrier and affected individuals is known as autosomal recessive inheritance.

Most people do not know they are a carrier for a genetic condition because they do not have any symptoms from just being a carrier. However, if both parents are unknowingly carriers for the same genetic condition, they may each pass on their copy of the gene with the mutation and have a child who is affected with the condition. If both parents are carriers, the likelihood of this happening is ¼ (25%) with each pregnancy. Carrier screening is a method of testing one or more genes to determine if one or both parents carry a mutation and are therefore at-risk of having a child affected with a genetic condition. The type of carrier screening offered is based on family history, ethnic background, or patient request.

Carrier screening is generally performed via a blood test, although some carrier tests are available via a saliva test. If one parent is found to be a carrier for a genetic condition, testing for the other parent is then indicated. Most carrier testing can reduce your risk to be a carrier for a genetic condition, but cannot eliminate it.

All carrier screening tests are available. We routinely test for many conditions, including but not limited to: cystic fibrosis, sickle cell disease, thalassemia, Tay-Sachs disease, fragile X syndrome, and spinal muscular atrophy.

Ideally carrier screening should take place before conception so you are aware of your risks and can discuss your options with a genetic counselor. If you are already pregnant and have carrier screening that shows you and your partner are both carriers of the same genetic condition, you may opt for diagnostic testing, such as CVS or amniocentesis to determine if the fetus is affected.

Link to testing options by Labcorp
https://www.labcorp.com/wps/portal/mytestingoptions/

Diabetes Management

Gestational diabetes is considered to be any form of impaired glucose tolerance first recognized during pregnancy. This occurs in as many as 18% of all pregnancies and is more common in older mothers-to-be, smokers and obese patients.

Although risk factors aid in determining the chance of developing gestational diabetes, there are no risk factors present in about 50% of affected women. For most women, gestational diabetes does not persist after pregnancy. However, women who have had gestational diabetes have a higher chance of developing type II diabetes later in life than women who have not had gestational diabetes.

Symptoms

Patients usually show no symptoms of gestational diabetes, thus necessitating universal screening for the condition between the 24th and 28th weeks of pregnancy. However, some patients may show some symptoms of untreated diabetes including:

  • Frequent thirst
  • Frequent urination
  • Fatigue

Diagnosis of Gestational Diabetes

The screening to determine the presence of gestational diabetes includes the patient drinking a sweet glucose solution, then having blood drawn to test sugar levels. If the findings are higher than normal, a follow-up test is performed after an overnight fast. A similar glucose solution is consumed in the morning and the blood is tested every hour in a three-hour period. If these measurements are found to be high at least twice in this three hour period then diabetes is present.

Gestational diabetes is essential to diagnose, as it poses significant risk to both child and mother. Most of these risks are directly related to the elevated levels of glucose in the blood, and their severity increases as the blood glucose concentration gets more extreme. The mother has a greater chance of developing high blood pressure and preeclampsia during pregnancy.

The excess sugar can cause certain growth abnormalities in the baby such as macrosomia (very large baby). These abnormalities can increase the likelihood of needing a Cesarean section. Babies born to mothers with gestational diabetes have an increased risk for chemical imbalances (i.e. low blood calcium and magnesium), an abnormally high red blood cell count and hypoglycemia at birth. Babies born to mothers with gestational diabetes also face a higher risk of obesity and type II diabetes as they mature.

Treatment of Gestational Diabetes

Treatment for gestational diabetes is primarily focused on reducing the inherent risks to both mother and child. The most common method is counseling, in which the mother is taught the benefits and relative ease of following both dietary and exercise guidelines. Losing weight by eating healthy foods, restricting portion sizes and exercising consistently can often help keep gestational diabetes in check. An example of a conservative routine would be eating a 2000-2500 calorie diet while avoiding simple sugars in addition to a schedule of walking one to three times a day for 10 to 20 minutes each.

If these measures prove to be inadequate, then insulin therapy can be employed. Self-monitoring blood glucose levels and anti-diabetic drugs are usually given to women exhibiting multiple risk factors. It is also important to note that breastfeeding has been linked to a reduced risk of diabetes in both mother and child.

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