A perinatalogist is an obstetrician with a subspecialty of maternal-fetal medicine, specializing in high-risk pregnancy . When your pregnancy is considered “high-risk”, your OB will refer you to Perinatal Diagnostic Center . Dr. Jadali will consult with you, offer relevant diagnostic tests and coordinate your care with you and your OB.
A genetic counselor (GC) is a specialist in human genetics and counseling. The GC will apply genetic analysis to the information that you provide. Information important to provide includes any relevant medical history and any previous genetic testing . Results from any screening tests already performed will be significant as well. The GC will then determine your risk for having a baby affected with birth defects or a genetic condition. The risks, benefits and limitations of diagnostic testing procedures are explained to the patient and any questions will be answered. In this way the parents can choose a course of action based on their own specific family needs.
High resolution ultrasound Services
Ultrasound is one diagnostic screening that uses sound waves to produce an image of the fetus inside the womb. It poses no risk to the mother or baby. The primary purpose of performing an ultrasound is to assess the status of a pregnancy. A due date , size of the fetus and number of fetuses can be determined as well as visualization of possible birth defects. Ultrasound does have its limitations. Factors such as fetal position, gestational age and maternal body habitus may limit the opportunity to visualize the fetal and maternal anatomy in its entirety.
- 2Dimensional (2D) ultrasound is the standard for evaluation of all pregnancies. It is imperative that a detailed 2D is performed to evaluate for fetal, placental, cord, uterine, cervical or ovarian abnormalities.
- 3D and 4D imaging is used at Perinatal Diagnostic Center for medical purposes in a variety of circumstances. One is the presence of a fetal abnormality detected on 2D imaging where volume data is needed for a more specific diagnosis such as in the case of Spina Bifida. Another case may be to better image a cleft lip and palate.
- Transvaginal ultrasound is performed using a small transducer inserted into the vagina. It is used more commonly in early pregnancy for better imaging than transabdominal ultrasound would provide at this age. It may also be used in the second and third trimesters of a pregnancy to image the cervix.
- Color Doppler is used to assess blood flow. It may be used to determine sufficient blood flow to the uterus, flow within the umbilical cord, fetal heart rate and anatomy and flow of oxygenated blood to the baby's brain.
- Fetal echocardiography is a test using sound waves (ultrasound) to show the structure of an unborn baby's heart. An obstetrician may get a limited view of a baby's heart during a routine pregnancy ultrasound. However, a specialist in fetal echocardiography can study a baby's heart in great detail using a fetal echocardiogram.
Some pregnant women are at higher risk of giving birth to a baby with a heart defect. They should be considered for referral for a specialized fetal echocardiogram. Indications include:
- a family history of congenital heart disease
- an abnormal fetal heart rhythm
- fetal heart abnormalities detected during a routine pregnancy ultrasound scan
- abnormality of another major organ system
- insulin-dependent (type 1) diabetes mellitus
- Exposure to some drugs in early pregnancy. For example, some anti-epileptic drugs can damage the developing heart.
- Abnormal amniocentesis. This is abnormal amniotic fluid in the woman's uterus.
The ultrasound scanning may be done through the vagina or through the abdomen. There are no known risks to the mother or fetus.
The heart motion can be seen from about 6 weeks of gestation. However, details of heart structure cannot be seen until
- 14 weeks gestation using scanning through the vagina.
- 18 weeks gestation using imaging through the abdomen.
Sometimes, repeat examinations are needed.
A limited cardiac evaluation is possible during regular obstetric scanning and is appropriate for women at low risk. However, some women should have a detailed fetal echocardiogram performed by a physician who is specially trained in fetal cardiac evaluation. They include women at increased risk of having a baby with a CHD or in whom a cardiac malformation is suspected by the initial ultrasound study.
The ultrasound scanning can identify conditions like,
- abnormalities of cardiac structure (CHD)
- cardiac rhythm disturbances (or arrhythmias )
- disorders of cardiac function
First Trimester Screening
At Perinatal Diagnostic Center we offer First Trimester Screening, a new, non-invasive test performed in early pregnancy to identify women at increased risk for Down syndrome and other birth defects. This screening test is performed between 11 and 14 weeks of pregnancy. It is offered to women of all ages. The First Trimester Screening begins with an ultrasound, which assesses fetal age and measures the nuchal translucency (a small space at the back of the fetal neck). The patient's blood is then drawn for the laboratory to be able to determine her risk of her baby having Down syndrome and trisomies 18 or 13.
With the results, the patient may choose to have further genetic counseling, perinatal consultation, expanded AFP or amniocentesis.
During its development, the fetus sheds cells into the amniotic fluid (water around the baby). Some high-risk patients may elect to have an amniocentesis and need to understand the risks and benefits of this procedure. Between 16 and 20 weeks of pregnancy, a small volume of this fluid can be removed by using a thin needle through the patient's lower abdomen. This fluid is sent to a laboratory to test is for chromosomal disorders such as Down syndrome. The laboratory also evaluates the alpha-feta protein within the fluid to determine the risk for abnormalities such as open neural tube defect and abdominal wall defect. It can also be tested for genetic disorders like cystic fibrosis. The results of an amniocentesis are ready in 10-14 days. Having a positive result means the test found an abnormality. In this instance, the patient will be provided the opportunity to discuss the diagnosis and her options with Dr. Jadali and a genetic counselor from the Perinatal Diagnostic Center , as well as with her own doctor. Referrals and support information is available for all decisions.