Perinatal Consultations

Dr. Keith Lescale consults patients with pregnancies progressing normally as well as patients with pregnancies that have high-risk problems. Often primary obstetric providers will utilize the services of a specially trained Maternal-Fetal medicine specialist like Dr. Lescale to advise on the management of the high-risk patient.
Dr. Lescale tailors his consultation to the patient’s needs and the referring obstetric provider’s capabilities and requirements. Involving the referring obstetric provider at every stage is key to Dr. Lescale’s consultative approach to high-risk care. Prompt feedback is always provided via telephone or fax and referring provider are also provided a direct number in case they need to reach Dr. Lescale at any time.
Communication with the patient is just as important. Dr. Lescale believes that quality care is best facilitated when sufficient time is taken to gather all pertinent information; asking and listening. A Maternal-Fetal consultation entails a detailed discussion with the patient. During this discussion Dr. Lescale gathers all relevant information for the patient’s current and future pregnancies. Next, the doctor explains to the patient how her pregnancy may be at risk, and makes recommendations including screening tests, diagnostic testing, and precautionary measures.
Examples why a patient may be referred to have a Maternal-Fetal consultation include:

  • Maternal Age
  • Multiple gestation (twins or higher order multiples)
  • History of premature labor, premature rupture of the membranes, premature birth or premature cervical dilatation
  • Previous pregnancy loss or stillbirth
  • An abnormal AFP (alpha fetoprotein) blood test (including suspicion of a neural tube defect)
  • An abnormal serum screen (including suspicion of a chromosomal abnormality such as Down syndrome, Trisomy 13, or Trisomy 18
  • Suspected abnormal fetal growth, both macrosomia (a baby that is too large) or fetal growth restriction (a baby that is too small)
  • Red cell alloimunization (Rh- mother sensitized to an Rh+ fetus)
  • In utero therapeutic procedure (such as fetal blood sampling/transfusion)
  • Maternal/family history of heart disease
  • A known or newly diagnosed history of hypertension (high blood pressure)
  • Preeclampsia (toxemia)
  • Maternal metabolic diseases, including diabetes (both pregestational and gestational types)
  • Maternal/family history of renal, gastrointestinal disease, seizure disorders, and cystic fibrosis
  • Maternal connective tissue disorder, e.g Lupus or Sjogren syndrome
  • History of drug or alcohol abuse
  • Infectious diseases (including parvovirus, toxoplasmosis, hepatitis, HIV and AIDS)
  • Chorionic villus sampling or amniocentesis
  • Genetic Counseling Services
  • Antepartum fetal testing
  • First trimester screening

Pre-Conception Counseling

Dr. Keith Lescale has pre-conception counseling available to help a woman make informed choices to formulate a plan which promotes the best possible outcome for her future pregnancy. There are many reasons to schedule a pre-conception counseling session, including maternal age, family history of a genetic condition, and maternal chronic illness. Even the couple’s ethnic background is a consideration for genetic screening tests. Because there are so many prenatal screening and testing procedures, many patients choose to make a pre-conception appointment in order to educate themselves about their options.

During a pre-conception counseling session, the patient will meet with a genetic counselor and/or a maternal-fetal specialist depending on the patient’s background. The genetic counselor will advise the patient about any genetic concerns and what tests are available to find reassuring answers. The Maternal-Fetal specialist will be involved in the appointment if the patient has an illness such as diabetes or hypertension, or if previous pregnancies had complications.

Recommendations from a pre-conception counseling session are an invaluable resource to a woman in her decision to have children.

3D/4D Technology

Ultrasounds are an essential tool to visualize the fetus in the womb. Traditional 2D ultrasound technology has been utilized for twenty-five years, most women have at least 2 ultrasounds during their pregnancy. Recent advances in imagery have resulted in the introduction of three and four-dimensional ultrasound giving obstetricians who suspect a fetal abnormality a specific surface rendering of the fetus. Dr. Keith Lescale has completed thousands of scans and has been using this innovative equipment since 2002.

Dr. Lescale explains that while informative a 2D ultrasound image does not always give an adequate view of the structure being studied. With 2D ultrasound the body is scanned using a movable probe over the surface of the mother’s abdomen. The image received is made up of thin views or “slices”. Only one slice at a time can be viewed on the screen. As with a 2D ultrasound a 3D ultrasound a probe moves over the mother’s abdomen. However with 3D ultrasound technology the computer combines multiple images and renders a life-like 3D image. The difference between 3D and 4D technology is that the computer takes multiple images as the technician holds the probe still and simultaneously renders a 3D image on the monitor. Four dimensional ultrasound technology allows for live real-time imagery.

Physicians refer patients to Dr. Lescale for 3D/4D ultrasound to detect fetal abnormalities and structural problems, such as cleft lips, spinal, and cardiac deformities. By utilizing 3D/4D technology Dr. Lescale can also determine fetal age, analyze fetal development, evaluate multiple or high-risk pregnancies, and diagnose ectopic pregnancies. The scans are immediately evaluated and reports are sent to the referring doctor. In most cases the referring doctor has the report within minutes after the patient’s exam.

According to Dr. Lescale there are a few limitations to sufficient visualization of fetal anatomy with 3D/4D technology. There will be difficulty visualizing structures or the baby’s face if there is inadequate amniotic fluid surrounding the fetus, or if the fetus has its face in the posterior position in the uterus. The 3D/4D technology is paid for by most major insurances when medically indicated.

Routine Obstetrical Ultrasound

Dr. Keith Lescale offers a routine obstetrical ultrasound (sonogram). An ultrasound uses sound waves to produce an image of the baby in the womb. A probe that emits sound waves is passed over the mother’s abdomen. These sound waves bounce off the baby at different speeds. Because the sound waves hitting bone return quicker than those hitting fluid, bones appear white and fluid appears black on the monitor.

Routine ultrasounds can be administered at different stages of pregnancy. In the first trimester viability and gestational age can be determined. A crown-rump measurement (length from the top of the baby’s head to the bottom of the tail-bone) is the best way to predict the due date of the baby.

An ultrasound in the second trimester usually between 18-22 weeks can be ordered to evaluate the number, placental position, and further evaluate the anatomy of the fetus. A routine ultrasound in the second trimester is offered to lower-risk patients. A high-risk patient would have a Level II Ultrasound.

An ultrasound in the third trimester is used to monitor the growth and positioning of the baby.

Level II Ultrasound

A level II ultrasound is a more comprehensive or “targeted” ultrasound than a routine ultrasound. During this scan much of the babies anatomy can be visualized. Patients are referred to Dr. Keith Lescale for a level II ultrasound when

  • Advanced Maternal Age
  • Multiple gestations (twins, triplets, or higher)
  • Fetal abnormalities are suspected
  • Mother has an elevated maternal serum AFP
  • Oligohydramnios (too little amniotic fluid)
  • Polyhydramnios (too much amniotic fluid)
  • Evaluation of the placenta is needed
  • Evaluation of the umbilical cord is needed
  • The fetus growth rate is abnormal

During this ultrasound many birth defects can be detected. However not all problems can be visualized.

Genetic Ultrasound

A genetic (or level III) ultrasound is a specialized evaluation of the baby performed by a Maternal-Fetal specialist. The baby is examined through the use of ultrasound as though he were a newborn baby.
A genetic ultrasound is recommended for women who have a family history of a genetic disorder, have a previous child with a genetic abnormality, will be over thirty-five at the time of delivery, have a chronic illness, have exposure to certain medications or chemicals, or have a abnormal clinical or laboratory finding.

Dr. Lescale has a great deal of experience providing genetic ultrasound. Genetic ultrasound requires detailed knowledge of fetal anatomy and development, experience with birth defects and genetic disorders, expertise in counseling and management of specific genetic disorders, and proficiency using color flow Doppler and 4D high resolution ultrasounds. According to Dr. Lescale genetic ultrasound is one of the most informative tools in high-risk pregnancy management.

High resolution ultrasound is used to provide a detailed examination of the fetus and uterine contents. The exam includes measurement of the fetal head, abdomen, extremities, and other structures. The doctor also examines and describes fetal organs including, the skull bones, cranial sutures, brain structures, face, eyes, upper and lower lips, ears, neck, chest, lungs, heart, diaphragm, stomach and intestines, liver and gallbladder, kidneys and urinary bladder, arms, hands and fingers, legs and feet, rib cage and collar bones, as well as the axial skeleton and the skin overlying the spine. Fetal activity is also assessed. The doctor records spontaneous movements of the trunk, arms, hands, fingers, legs, and feet, as well as observation of fetal swallowing and general muscle tone. Special attention is given to the appearance and movement of the heart valve, heart walls, and blood flow in the umbilical cord. Finally the placenta is measured with its size, appearance, and position described. The number of umbilical vessels is determined, and the volume of amniotic fluid is assessed.

Biophysical Profile

If an expecting mother has diabetes, high blood pressure, too much or too little amniotic fluid around the baby, or is past her due date, a biophysical profile or BPP may be recommended. A BPP may also be ordered if the baby does not appear to be growing properly.

A Biophysical Profile is a type of ultrasound done in the third trimester to assess whether the baby is getting enough oxygen in the womb. The BPP assigns a score for these categories: fetal body movements, fetal muscle tone, fetal breathing movements, and amniotic fluid level.

A Biophysical Profile is non-invasive. Before having the test mothers are encouraged to eat because eating seems to cause the baby to move.

Doppler Study

Dr. Keith Lescale offers the latest in Doppler Ultrasound technology. Doppler ultrasound uses sound waves to measure the flow of blood through blood vessels. Waveforms of the blood flow are shown on the ultrasound screen. Maternal-Fetal medicine doppler flow studies are used to assess blood flow in the umbilical blood vein and arteries, fetal brain, and fetal heart.

A Doppler flow study is used when a fetus has intrauterine growth restriction (IUGR), which means the fetus is small for his/her gestational age. A fetus with IUGR may not be receiving enough blood, nutrients, and oxygen from the placenta. A Doppler study can determine if the blood flow in the umbilical vessels of a fetus is decreased.

Recent developments in Doppler Ultrasound that are available are the Power Doppler (Doppler angiography) and low energy color Doppler. Power Doppler helps to visualize the flow of blood in smaller blood vessels. Low energy color Doppler depicts the flow of blood in the fetal blood vessels in a real time scan. Different colors represent the direction of the blood flow. For example blood flowing away from the ultrasound probe looks red on the monitor, while blood flowing toward the probe is blue. Color Doppler is indispensable in the diagnosis and assessment of congenital heart abnormalities.

First Trimester Screening Nuchal Translucency

Dr. Lescale offers first trimester screening, a revolutionary new non-invasive screening test that combines a blood test with a nuchal translucency measurement to help determine with greater accuracy whether a fetus may have Down syndrome, Trisomy 18, or other chromosome abnormalities. It can also detect congenital heart defects. Traditionally women at high-risk for problems due to maternal age or family history have been offered chorionic villus sampling (CVS) in their first trimester, or waited until the second trimester to have an amniocentesis, both of which carry their own risks. First trimester screening allows patients to push their decision making up a month, and provides reassurance of a healthy pregnancy earlier than any other test permits.

This test has been performed in the United States since 1995, but is still not widely available. To perform the procedure the physician needs high quality equipment and must be certified by the Fetal Medicine Foundation in London, the organization that currently set the standards and provides the software that allows the doctor to evaluate risk.

By using ultrasound, the doctor measures the clear space at the back of the baby’s neck. The measurement of this fluid is called a nuchal translucency measurement. Babies with abnormalities tend to accumulate more fluid at the back of their necks during the first trimester, causing a larger nuchal translucency measurement. The test is painless and involves not risk to the patient or fetus. The Screening must be performed between 11 and 14 weeks. In the first stage of the test the baby’s gestational age will be confirmed. Next a probe is placed over the abdomen so that the nuchal fold area shows up on the monitor. The thickness of the nuchal fold area is measured with calipers.

By evaluating the measurements of nuchal folds of thousands of fetuses between 11 and 14 weeks of gestation, researchers have been able to establish what a “normal” measurement is for each day of the three weeks studied. Then a statistical relationship is created between the nuchal fold measurement, the fetus’ age, the mother’s age, and the probability that the baby will be born with certain abnormalities. The doctor gives the patient the result in the form of a ratio that expresses the baby’s chances for having a problem. For example, a forty-year-old pregnant woman has a 1 in 77 chance of having a baby with Down syndrome. After she has a nuchal translucency test the doctor find the baby’s nuchal fold to be thin for his age. The doctor enters the mother’s age, the nuchal fold measurement, and the fetus’ age in the risk assessment program. The result reveals that the baby’s risk for having Down syndrome is now 1 in 761.

For the second part of the test a blood specimen is taken from the mother by a simple finger prick. The blood is then analyzed for two proteins, freeBeta-hCG and PAPP-A, normally found in the blood of all pregnant women. By combining the nuchal translucency results and blood ananlysis, the doctor can detect approximately ninety-percent of babies with Down syndrome and Trisomy 18. It is important to remember that the screening does not give a definite diagnosis, but the results can aid the patient in deciding whether or not to undergo more invasive diagnostic tests like CVS or amniocentesis.

Genetic Counseling

A genetic counselor (GC) is a professional with a specialized education, most often a masters degree, in genetics and counseling to provide personalized care to patients as they make decisions about their genetic health. Expecting mothers, women planning to become pregnant, and their families might expect to see a genetic counselor during their visit with Dr. Lescale for many reasons. Some of these reasons include:

  • Questions about a disease or condition that runs in the family
  • A family history of an inherited disorder, birth defect, or intellectual disabilities or delays
  • An abnormal result from a genetic screening or diagnostic test
  • An abnormal ultrasound result
  • Concerns about health, lifestyle, or work environments that might pose a risk to the pregnancy (infections, medicines, drugs, chemicals, and/or other environmental agents)
  • A history of infertility or multiple pregnancy losses
  • Increasing parental age (women over 35 or men over 40)
  • Concern of being at increased risk to be a carrier of a genetic conditions due to ethnic background (some diseases are more common in certain ethnicities or ancestries)
  • Couples that are first cousins or other close blood relatives

How can I prepare for my genetic counseling appointment?
The GC will ask some questions about you, your family, your pregnancy history, and your medical history. Gathering this information from your partner and from your family is important. Some things the GC may ask about are:

  • Your (and your partner’s) pregnancy history, including all current and past pregnancies
  • Your (and your partner’s) medical and health history
  • The health history of other members of your (and your partner’s) family, including children, siblings, and some extended family.
  • Your (and your partner’s) ancestral background or ethnicity.

What will happen during the appointment?

Depending on the reason for the visit, there are many aspects to a genetic counseling session. You can expect the GC to:

  • Go over your family and medical history in detail
  • Figure out and explain your chances of having a child with a specific genetic condition
  • Help you explore your options and make decisions about screening and testing before and during pregnancy
  • Help you interpret test results including the accuracy and limitations
  • Help you understand medical and genetic information
  • Provide you with information about any abnormal results and help you understand your options
  • Provide counseling and emotional support
  • Refer you to support and advocacy networks

This session is intended to empower women and their families with knowledge so they can decide if they want any genetic testing. The decision to request or refuse any genetic test is entirely up to the patient.

Non-Stress Test

A Non-stress test is a painless, noninvasive test used to evaluate the well being of the baby in the third trimester. The test can be ordered as early as twenty-eight weeks, and may be done as often as twice a week. Some reasons why Dr. Lescale or a referring may request a Non-stress test are:

  • Pregnancy induced hypertension
  • Diabetes
  • Multiple gestations (twins, triplets, etc)
  • Rh sensitization (possible when mother has Rh negative and father is Rh positive)
  • Unexplained elevated maternal serum alpha-fetoprotein (MSAFP) level
  • Previous stillbirth
  • History of premature labor
  • Postdates (more than 41 weeks long)
  • Intra-uterine growth restriction, IUGR (baby is growing slower than expected)
  • Decreased fetal movement
  • Too much or too little amniotic fluid
  • Some cases following amniocentesis

The Non-stress test monitors the baby’s heartbeat and the mother’s uterine contraction. The test is conducted while the mother is lying in chair and two elastic belts are wrapped around her belly. One belt measures the baby’s heart rate and the other records any uterine contractions.

The baby’s heart rate should increase as he moves. During the test if the baby’s heart rate increases with the baby’s movement twice in a ten-minute interval then the test is considered “reactive”. A “reactive” result means the baby is receiving adequate oxygen at the time of the test. However, if the test is “non reactive” test may indicate the baby is not getting enough oxygen or there are problems with the placenta. The physician will generally order more tests. It is important to remember that a “non-reactive” test does not mean something is wrong just that more investigation is necessary.

Non-Invasive Prenatal Screening

Non-invasive prenatal screening (NIPS) is a method of determining whether a fetus will be born with certain genetic abnormalities as well as the genetic sex of the fetus. This screening test uses small pieces of DNA from the placenta that are circulating in a pregnant woman’s blood, called “cell-free DNA.” The test is considered non-invasive because it only requires a blood-draw from the pregnant patient and does not pose a risk to the fetus.

NIPS is most often used to look for chromosome disorders that are caused by the presence of an extra or missing copy of a chromosome (aneuploidy). Primarily, the screening looks for Down syndrome (trisomy 21, caused by an extra 21), trisomy 18 (extra chromosome 18), trisomy 13 (extra chromosome 13), and extra or missing copies of the X and Y chromosomes (the chromosomes which determine sex). The accuracy of the test varies by disorder, but can be as high as 99.9%.

NIPS can be done after 9 weeks gestation. Indications for this testing include advanced maternal age (women over 35, abnormal serum screening, and abnormal ultrasound results). However, this test is available to all pregnant women.

To find out more about this testing, or to schedule an appointment for a genetic consultation with one of our ABGC board-certified genetic counselors, please call us at (845) 483-0500.

Nuchal Translucency Screening (First Trimester Screening)

First trimester screening combines a blood test with ultrasound measurements to help determine the risk to a pregnancy for Down syndrome, trisomy 18, or other genetic conditions. It can also detect congenital heart defects.

Ultrasound ImageUsing ultrasound, the doctor measures the clear space at the back of the fetus’ neck. This measurement of fluid is called the nuchal translucency measurement. Babies with genetic abnormalities or heart defects tend to accumulate fluid in this space during the first trimester, causing a larger-than-normal nuchal translucency measurement.

This screening must be performed between 11 and 14 weeks. It is safe, and involves no risk to the developing fetus. The screening is divided into two parts. The ultrasound and a blood test. T Once the measurement is made, it is put into an algorithm that includes the mother’s age, the gestational age, and hormone measurements from a small maternal blood draw. This algorithm calculates the chances the baby could be born with certain abnormalities.

With this screening, 99% of babies with Down syndrome and trisomy 18 can be detected. However, it is important to emember that this is a screening test – not diagnostic. These results are only used to aid the patient in deciding whether or not to undergo further testing like non-invasive prenatal screening or more invasive, diagnostic testing, like CVS or amniocentesis.

Maternal Serum Screening

Dr. Lescale offers Maternal Serum Screening for Down syndrome, Trisomy 18, and Open Neural Tube Defects (ONTDs). This is a non-invasive screen performed between 15 and 18 weeks of pregnancy.

Maternal serum screening measures four markers that are produced by the fetus and by the placenta. These markers include: alpha-fetoprotein (AFP), human chorionic gonadotropin (hCG), unconjugated estriol (uE3), and Inhibit A. These markers, or hormones, are present in the mother’s blood stream in small amounts. Maternal serum screening measures these amounts and compares them to the average level for all women in the same week of their pregnancy. The screening can determine whether a pregnant woman is at increased risk of carrying a fetus with an abnormality

Factors that can influence the levels of the markers include:

  • The gestational age of the pregnancy
  • Weight of the mother
  • Race of the mother
  • Age of the mother
  • Medications being taken during the pregnancy
  • Family history of chromosome abnormalities or neural tube defects
  • Whether the pregnancy is a twin pregnancy (multiple gestation) or not.

It is important to understand that a screening test is not diagnostic. Some women may have an abnormal screening, but have normal diagnostic testing. In addition, because screening does not detect all high-risk pregnancies, some women with normal screening can still have abnormal outcomes.

When a woman does have an abnormal serum screening, further, more accurate, testing can be offered.

To find out more about this testing, please call us at (845) 483-0500.

Chorionic Villus Sampling

Chorionic Villus Sampling (CVS) is a diagnostic procedure performed between 10 and 14 weeks of pregnancy. The procedure involves taking a small sample of tissue from the placenta via a needle through the abdominal wall (transabdominal CVS) or via the vagina and cervix (transcervical CVS). The way the procedure is done depends on the position of the placenta, the uterus, and the fetus. Ultrasound is used to determine the locations of each and to locate the safest place in which to insert the needle.

This procedure is a diagnostic tool used to determine the genetic status of the fetus. With this test, the assessment of many genetic conditions can be done. A woman may choose to consider CVS after an abnormal screening testing like maternal serum screening or non-invasive prenatal screening, an abnormal ultrasound, advanced maternal age, or a family history of a genetic condition. The benefit of CVS is that results are available very early in the pregnancy. As such, women and their partners can make decisions about the pregnancy (such as termination or in-utero treatment), anxiety might be lessened. In addition, the couple can use this information for their own preparation.

Risks and benefits of the CVS should be discussed with your doctor or with your genetic counselor.

Amniocentisis

Amniocentesis may be recommended for:

  • Women who are pregnant or planning to become pregnant and will be 35 or older at delivery.
  • Couples who have had a baby or a relative with a genetic condition like Down syndrome, an open neural tube defect like spina bifida, intellectual disabilities, or other birth defects.
  • Couples who are known carriers of an inherited disorder like Cystic Fibrosis, Spinal Muscular Atrophy, Tay Sachs, etc.
  • Couples at increased risk for a baby with an open neural tube defect or genetic condition based on pregnancy screening or ultrasound.
  • Couples who are otherwise concerned about having a genetically atypical baby.

Amniocentesis is a procedure in which a small amount of amniotic fluid is withdrawn from the amniotic sac surrounding the fetus. From this fluid analysis can be done of the full genetic information of a fetus and the risk for an open neural tube defects can be determined. This procedure can be done after 15 weeks of pregnancy.

Amniocentesis requires an experienced physician, usually one who specializes in maternal fetal medicine. With continuous ultrasound, the physician carefully inserts a thin needle through the abdominal wall into the uterus and withdraws a small amount of amniotic fluid.

Amniocentesis is an invasive procedure and does carry a risk for infection, miscarriage, and preterm delivery. However, medical literature has determined that there is a not a significant increase in miscarriages in women who’ve had an amniocentesis than those who have not.

To find out more about this testing or speak to a genetic counselor, please call us at (845) 483-0500.

Carrier Screening

Lescale MFM offers screening for many genetic conditions that is comprehensive and accurate, and can help guide your family planning. Carrier screening is a blood or saliva test that can assess the carrier status of anyone who is pregnant or planning to become pregnant and their partners. The likelihood of being a carrier for a condition varies based on the condition and on the ancestry of each patient.

Being a carrier means that someone has one non-working copy of a gene and one working copy. Most carriers are healthy and do not have a family history of any genetic conditions. There are two ways a carrier may pass on a genetic condition to their child:

  • Autosomal recessive inheritance – a child inherits a non-working copy from both their mother and their father
  • X-linked inheritance – typically when a male inherits an X-chromosome with a non-working copy from their mother

There are many conditions that are inherited in these ways. Some of the most common are:

  • Cystic Fibrosis (CF)
  • Spinal Muscular Atrophy (SMA)
  • Fragile X
  • Sickle Cell
  • Phenylketonuria

The American College of Obstetricians and Gynecologists (ACOG) and the American College of Medical Genetics and Genomes (ACMG) has recommended carrier screening for many of the more common disorders for all women who are pregnant or planning a pregnancy. It is possible to test for multiple conditions at once or for just a few conditions are that are higher in prevalence for an individual ancestry.
To find out more about this testing or speak to a genetic counselor, please call us at (845) 483-0500.