High risk pregnancies are referred to our Ocean Perinatology centers. The physicians at Ocean Perinatology have been providing care to pregnant women in New York since 2007. Our physicians are Obstetricians that have received additional training in the subspecialty of Maternal-Fetal Medicine.
A perinatologist is an obstetrician who has special training in maternal-fetal medicine or high-risk obstetrics. The perinatologist or maternal-fetal medicine experts at Ocean Perinatology are all Board certified obstetricians (and, thus, Fellows of the American College of Obstetrics and Gynecology) who are also Board certified in the subspecialty of maternal-fetal medicine.
As perinatologists, we:
- Provide co-managed (with obstetricians) prenatal care for patients with both low and high-risk pregnancies;
- Provide consultation and recommendations for pregnant patients under the care of another health care provider;
- Carry out detailed ultrasounds for pregnant women with or without a referral (please see the ultrasound section);
- Provide genetic screening and prenatal diagnostic services;
- Provide preconception counseling to women to assess overall health, pregnancy related risks and recommendations to optimize future pregnancy outcomes.
Perinatal Services Offered
Click on a service below for more information.
A nuchal scan is a sonographic prenatal screening scan (ultrasound) to help identify higher risks of Down syndrome in a fetus, particularly for older women who have higher risks of such pregnancies. High thickness measurements are also associated with congenital heart defect. The scan is carried out at 11–13.6 weeks pregnancy and assesses the amount of fluid behind the neck of the fetus - also known as the nuchal fold or 'the nuchal translucency'. Fetuses at risk of Down tend to have a higher amount of fluid around the neck. The scan may also help confirm both the accuracy of the pregnancy dates and the fetal viability. Its high definition imaging may also detect other less common chromosomal abnormalities.
All women, whatever their age, have a small risk of delivering a baby with a physical or Intellectual disability. The nuchal scan helps doctors and midwives to estimate the risk of the fetus having Down syndrome or other defects more accurately than by maternal age alone.
Study: Genetic sonogram increases Down syndrome detection rates
The addition of genetic sonography can increase detection rates and maximize the accuracy of noninvasive testing for Down syndrome during the second trimester of pregnancy, according to a substudy of the FaSTER screening trial published in the November edition of Obstetrics and Gynecology.
The study, which sought to estimate the effectiveness of applying genetic sonography to modify Down syndrome screening results, utilized data generated from the First and Second Trimester Evaluation of Risk (FaSTER) aneuploidy screening trial, whose participants included nearly 39,000 pregnant women. In using this data, the authors said they were able to demonstrate that the addition of a genetic sonogram to all modes of screening in pregnancy allows for optimal noninvasive prenatal detection of Down syndrome.
Kjersti Aagaard, MD, assistant professor of obstetrics and gynecology at Baylor College of Medicine in Houston, and colleagues screened a total of 7,842 of the nearly 39,000 pregnant women who took part in the FaSTER trial for the study using a noninvasive genetic sonogram, an ultrasound system that details the fetal anatomy in the second trimester and searches for the presence of major fetal anomalies or specific anatomic features that might be found in a child with Down syndrome, said Aagaard.
The women were studied in 13 different locations, where a 15- to 23-week genetic sonogram was performed in the same location. Mid-trimester Down syndrome risks were estimated for five screening test policies: first-trimester combined, second-trimester quadruple, and testing sequentially by integrated, stepwise or contingent protocols, said the authors.
Noninvasive screening for Down syndrome can include an early ultrasound to detect nuchal translucency in the fetus’ neck tissues and series of tests for looking for biochemicals in the mother's blood at particular points during the pregnancy, typically the first and/or second trimesters.
Invasive screening tests, which are commonly considered to be more definitive, include amniocentesis, the direct measurement of chromosomal material in fetal cells found in the fluid inside the uterus and chorionic villus sampling, an earlier means of obtaining fetal cells from tissue found in the placenta. Both tests carry the risk for complications and many pregnant women hope to try to avoid these risks, said the authors.
The study saw a detection rate of Down syndrome babies as varying from 69 percent for the genetic sonogram alone to 81 to 90 percent with the combined test and the quadruple test seeing the same rate, 93 to 98 percent with the integrated test, from 97 to 98 percent with the stepwise test and 95 to 97 percent with the contingent test.
Additionally, the enhanced detection rate was accompanied by a decrease in the screening tests false-positive rates, according to the authors.
"We did not miss a single case of Down syndrome with our overall screening program, which included an option for invasive testing," concluded Aagaard. "Based on our findings, it is our expectation that this will serve as the definitive study with which clinicians can reliably inform women of their risk in a noninvasive fashion with currently available technology."
Ultrasounds, sometimes referred to as sonograms, are a medical test which uses high frequency sound waves to produce a picture of the organs in the body. In the case of pregnancy, ultrasounds are routinely prescribed to produce an image of the fetus. A 4D ultrasound uses a special sonogram machine and takes images from a few different angles, which reveal more detailed images of the fetus, such as facial features. It can also capture movements made by the baby during the procedure.
A standard ultrasound only provides a two-dimensional image of the fetus. They are usually ordered in pregnancy for a variety of reasons, such as evaluating development of the baby, determining gestational age and identifying any abnormalities. Although the standard ultrasound produces a picture of the fetus, it may take a trained sonographer or a doctor to identify features and body parts. Keepsake photos are given to the patient, however they are often grainy.
Occasionally, a two-dimensional ultrasound may indicate a problem and a more sophisticated 4D ultrasound is needed to confirm an abnormality. For many pregnant women, there is no medical need for a 4D ultrasound, however the mom-to-be wants to get a better look at her baby. Most centers that perform a 4D ultrasound, recommend the test is performed after twenty-five weeks gestation. The baby is usually big enough to see features clearly.
Standard ultrasounds are ordered by a physician and performed at a clinic, doctors office or at an ultrasound imaging center. 4D ultrasounds do not require a doctor's order and are often done at a private ultrasound business, which specializes in keepsake 4D ultrasounds. The procedure is non-invasive and takes about twenty minutes to complete.
After a conductive gel is applied to the abdomen, the procedure is done by gliding a transducer over the pregnant women’s abdomen. A monitor is within view, allowing the woman to view the fetus and watch as the ultrasound is completed. The mom is given a keepsake photo and video of the baby.
The Federal Drug Administration regulates the level of energy used in ultrasound machines. Although they are considered safe, many physicians believe medically unnecessary ultrasounds should be avoided. This has caused some debate regarding elective 4D ultrasounds.
Because 4D machines create a higher quality image, there is some concern by physicians that the energy level used in 4D ultrasounds may be higher, although this has not been proven. For women who do want a keepsake photo and opt for a 4D ultrasound, it’s important to be sure the technician performing the test is a licensed sonographer. Women considering a 4D ultrasound should talk to their doctor regarding any safety concerns prior to the procedure.
Importance of Fetal Heart Evaluation
Monday, November 06, 2006
Kenneth F. Trofatter, Jr., MD, PhD
Early last week, a 17 year old woman, carrying her first baby, was seen in the office for a routine ultrasound at about 18 weeks’ to confirm gestational age and assess fetal anatomy. During that examination, the baby was found to have a heart abnormality called an endocardial cushion defect, or A-V canal. This particular abnormality is very common in babies with trisomy 21 (Down Syndrome). She was informed of this association and offered an amniocentesis which confirmed that diagnosis. At her age, the expected risk of having a baby with trisomy 21 is approximately 1 in 2000, and the overwhelming likelihood is that the diagnosis would not have been made until the time of delivery if a thorough evaluation of the fetal heart was not part of even our most routine examinations.
Fetal heart abnormalities are found in 0.4% to 1.1% of all live births. Such defects are the most common abnormalities detected following delivery and these are the leading cause of infant mortality related to birth defects. More than one-third of all malformations found after delivery are congenital heart defects (CHD); despite the widespread use of ultrasound during pregnancy, only 4-7% of malformations detected before delivery are cardiovascular defects. Thus, the vast majority (80-90%) of fetal heart abnormalities are not suspected prior to the birth of the baby. Prenatal diagnosis of CHD can be difficult, but is valuable because outcome for certain abnormalities can be dramatically improved by accurate diagnosis and adequate preparation.
Obstacles to performing a fetal heart evaluation can be the result of many factors: fetal heart size (only about 2 cm at 18 to 20 weeks); rapid heart movement; fetal movement; fetal position; placental location; maternal habitus; and, calcification of the skeleton, especially, the rib cage and upper extremities at later gestational ages, that causes ‘shadowing’ of the cardiac silhouette. Nevertheless, even practitioners without specialized training can improve CHD detection by paying careful attention to the heart during routine fetal ultrasound evaluation and by having a low threshold for referral to centers that can perform a more thorough cardiac examination. This threshold can be based on actual suspicious diagnostic findings (remember, it is much more important to recognize or suspect that something is 'not normal' than to know what the abnormality actually is!), by the inability to visualize adequately the fetal heart (never assume something is normal if you cannot see it!), and by attention to CHD risk factors.
Approximately, 90% of major cardiac malformations can be ruled out by methodically evaluating an adequate '4-chamber view' of the fetal heart. Documentation of a good 4-chamber view remains the standard of care for evaluation of the fetal heart in the office setting when an anatomic survey is performed. The optimum view for this evaluation is obtained with the fetal back down and with the cardiac axis at 30-60 degrees to the plane of the transducer. In this view, the cardiac axis, integrity of the interventricular septum, comparability of the chamber diameters, and free movement of the atrio-ventricular valves (mitral and tricuspid valves) can be readily assessed using ultrasound equipment currently available in most office settings. In more experienced hands, evaluation of the pulmonary venous return to the left ventricle can also be seen in this view. A suspected abnormality of any of these parameters, or the detection of a cardiac arrhythmia noted during the study, is an indication for a thorough fetal echocardiogram. A 'targeted' scan (detailed anatomical evaluation) is also recommended if noncardiovascular abnormalities are found due to the increased likelihood of cardiac malformations associated with other congenital defects. Major limitations of the 4-chamber view alone are inadequate assessment of the aortic and pulmonic outflow tracts, the aortic and ductal arches, the major branches of the pulmonary tree, and the vena cava.
Risk factors for CHD include family history; previously affected baby; pregestational diabetes; advanced maternal age; multiple gestation; use of certain prescription medications (e.g., lithium; anticonvulsants; isotretinoin); polysubstance abuse; autoimmune disorders; and, known phenylketonuria. Although CHD is often considered to be the result of multifactorial contributions, a strong family history warrants genetic counseling and possible evaluation for specific genetic markers such as the chromosomal microdeletion 22q11.2. If a woman has had one affected child, the risk to a subsequent child is 2-5%; if two affected children, subsequent risk is 5-10% or higher. If the mother herself has had a congenital heart defect, the risk to her offspring can be as high as 18%; if there are two affected first-degree relatives, the risk can approach 50%!
In addition to these risk factors, other indications for fetal echocardiography include: intrauterine growth restriction and, occasionally, macrosomia (big babies); suspected exposure to certain teratogenic viruses (CMV, rubella); nonimmune hydrops; abnormality of amniotic fluid volume; and, known or suspected fetal chromosomal abnormality. Maternal morbid obesity is associated with greater risk of various congenital abnormalities, especially neural tube defects and cardiac malformations, and is an independent risk factor that warrants a targeted sonogram that includes more complete evaluation of the fetal heart than can ordinarily be performed in the office setting.A major reason for detecting CHD in the fetus is to ascertain the optimum site for delivery. Minor abnormalities, unlikely to need immediate attention, often permit a safe delivery at the primary care facility. Babies with more complex abnormalities are better delivered at a tertiary care center. Such is the case with the prenatal diagnosis of a group of disorders called ‘ductal dependent abnormalities’ such as hypoplastic left heart sequence, pulmonary atresia, transposition of the great arteries, severe Tetralogy of Fallot, critical aortic stenosis, and severe coarctation of the aorta. These abnormalities place the baby at increased risk for sudden decompensation if the ductus arteriosus closes before the cardiac malformation can be addressed medically or surgically. If these conditions are suspected before delivery, arrangements can be coordinated, time permitting, for the patient and her fetus to be evaluated at a facility that can best provide appropriate support services following the birth of the baby.
New advances in sonographic techniques will further improve the detection and the accuracy of prenatal diagnosis of CHD. Measuring the nuchal translucency (clear space between the skin and underlying soft tissues of the baby’s neck) at 11-14 weeks’ gestation by specially certified individuals has not only been proven to increase the early detection of aneuploidy (chromosomal abnormalities), but is also of great value in detection of major cardiac malformations in euploid ( chromosomally normal) fetuses. A chromosomally normal fetus with a nuchal translucency greater than the 95th percentile has a 1 in 23 chance of having a major congenital heart defect. Using this indicator of risk to guide further diagnosis, many major heart defects can be accurately defined sonographically by 14-16 weeks’ gestation.
In addition to earlier diagnosis, more specific categorization of abnormalities is now possible later in pregnancy using 3D/4D sonographic technology. A complete 4D 'volume' of the heart can be rapidly obtained in the 4-chamber view and then can be analyzed following acquisition using post-processing software capable of reconstructing the heart and vasculature, permitting detection of abnormalities not readily visualized in 'real-time.' This approach is revolutionizing the evaluation of the fetal heart, minimizing the time and frustration of the real-time fetal echocardiogram, and improving the accuracy of diagnosis.
Our dedicated team of specialists work together closely with each other, our patients and other health care providers to ensure the highest level of care for pregnant women or women contemplating pregnancy.
* We would be happy to discuss with you any questions or concerns you might have! Please call us at (516) 439-5300 for a consultation, or to setup an appointment!