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High quality ultrasound is best performed in all three trimesters

In the first trimester, we establish pregnancy due date, count the number of fetuses, look for major fetal problems, establish the location of the placenta and use measurement of the nuchal translucency and other structures to alter the a priori risk of chromosomal anomalies such as Down Syndrome.

In the second trimester, we do detailed anatomical analysis of the fetus from head to toe. The "anatomy scan" is usually done at about 20 weeks so that there is enough development particularly of the heart and brain for detailed visualization of structures and function.

In the third trimester, we follow the rate of growth of the fetus, the proportion of fetal structures, amniotic fluid volume, and placental function. In addition to growth per se, we can perform biophysical profiles which are very good predictors of placental function and fetal health.

First Trimester Ultrasound, Nuchal Translucency, and First Trimester Instant Risk Assessment™ Screening

Ultrasound imaging is a noninvasive technique that is used to look at the fetus within the abdomen. First trimester ultrasound has emerged over the past several years as the most reliable way of establishing the due date of pregnancy; of determining the number of fetuses, and whether multiple fetuses are identical or fraternal; and of screening for elevated risk of genetic abnormalities, including Down syndrome and cardiac, neural, and limb abnormalities.

During ultrasound, the nuchal translucency (NT) can be established; this measurement determines the thickness of the back of the fetal neck. For over nearly 20 years in over 2,000,000 pregnancies NT and blood studies for free ~ hCG and PAPP-A have been shown to be a very reliable indicator of genetic risks. They have a higher yield of detecting problems than do other markers currently being utilized.

First trimester screening results usually either increase or decrease the age-related risk of the pregnant woman for Trisomy 21 (Down Syndrome), Trisomy 13 and Trisomy 18. For example, the results may describe a 26-year-old woman as having risk of carrying a fetus with Down syndrome equivalent to that of a 40-year old (or vice versa). Research suggests that, by performing first trimester screening, about 85% of Down Syndrome pregnancies can be identified in the first trimester. (The more traditional blood tests in the second trimester can only detect about 60% of cases.) Patients can then use this information to decide whether they wish to have definitive testing such as CVS, to obtain a specific diagnosis in the first trimester.

In general, data suggest that first trimester screening is more sensitive than that in the second trimester or than using maternal age alone. Also, early screening allows early diagnosis of fetal abnormalities, giving parents more time to exercise treatment and management options.

The goal of screening is to maximize the chance of finding a problem that might be there while at the same time minimizing the number of women who require diagnostic (definitive) testing to be certain. Patients have a finger stick blood sample taken at 9-11 weeks. Then, at 11-and-a-half to 13 weeks 6 days, we perform the first trimester ultrasound and measure the thickness of the back of the neck - referred to as the Nuchal Translucency (NT) measurement. Accurate measurement of the NT is critical, as its results are used in a formula combined with the gestational age of the fetus (as measured by its length), the age of the mother, and the results of the ~ hCG and PAPP-A blood tests. While the patient is in our office having the US, we can instantly compute the adjusted risk. Low-risk patients can be reassured, and higher risk patients can go on to have a definitive answer by CVS generally performed at the same visit.

It is important for all patients to remember, however, that screening results do not give a definitive answer but merely alter odds. Work by Pergament and Cuckle has shown that whatever the Down Syndrome risk may be on screening, the risk of other issues such as sex chromosome abnormalities, rings, translocations, and inversions can be made no lower than about 1/500. Therefore when we counsel patients, we believe that the lowest possible risk internalized by patients in their decision-making process should be 1/500 if the computed Down Syndrome risk is reported as lower than that.

Small, normal NT in one twin and enlarged NT in other twin.

Second Trimester Ultrasound

Genetic ultrasound is part of every diagnostic procedure we perform. Assessment of fetal structure and sometimes function allows for the reassurance of normality in the majority of instances. Unfortunately, we also find pregnancies in which there are significant structural abnormalities which can vary from minor to severe to lethal. We use the latest machinery that provides the highest resolution in both 2, 3 and 4 dimensions.

Four Chambers

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2nd Trimester Brain Structures

2nd Trimester Spince

2nd Trimester facial 3D

Third Trimester Ultrasound

Assessment of continued fetal growth is important to assuring fetal health. When appropriate, we can do further tests such as fetal biophysical profiles to document fetal well being.

Evaluation of fetal growth is best performed in all three trimesters to assure continued, appropriate growth. Further evaluation of fetal health can be obtained by biophysical profiles what document amniotic fluid volume, fetal movement, breathing, and tone. A separate "non stress test" on monitoring is often added.