Perinatal Consultations

Dr. Keith Lescale consults patients with pregnancies progressing normally as well as patients with pregnancies that have high-risk problems. Often primary obstetricians 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 obstetrician’s capabilities and requirements. Keeping the referring physician involved in each stage of care is important to Dr. Lescale’s consultative approach to high-risk care. This is why prompt feedback is always provided to the referring physician via telephone or fax. Referring physicians are also provided a direct number in case they need to reach Dr. Lescale.

In addition, Dr. Lescale believes that quality care is facilitated best when enough time is taken to gather all pertinent information and communicate well with patients. 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/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 Age
  • Maternal lupus
  • History of drug or alcohol abuse
  • Infectious diseases (including parvovirus, toxoplasmosis, hepatitis, HIV and AIDS)
  • Red cell alloimunization (Rh- mother sensitized to an Rh+ fetus)
  • 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 triple 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)
  • In utero therapeutic procedure (such as fetal blood sampling/transfusion)
  • Choroinic 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 about formulating a plan to promote 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.

Ultrasound Services

Click to learn more about our Ultrasound services.

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.

Nuchal Translucency Screening (First Trimester Screening)

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.

Ultrasound ImageThis 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 is a health care professional with a master’s degree in human genetics and counseling. Expecting mothers, women planning to become pregnant, or couples may be referred to Dr. Lescale for:

  • Questions about a disease or condition that runs in the family
  • A family history of an inherited disorder, birth defect, or mental retardation
  • An abnormal result from a genetic screening or diagnostic test
  • Concerns about their job, lifestyle, or medical history which may pose a risk to pregnancy (including exposure to infection, medicines, alcohol, street drugs, chemicals, or other environmental agents)
  • Age of 35 years old or older when her baby is born
  • A history of two or more miscarriages or early infant deaths
  • The couple are first cousins or close blood relatives
  • The couple has infertility and suspect genetic causes

The genetic counseling session is one important tool prospective parents can use to help make their own decisions regarding a future or current pregnancy. First the genetic counselor evaluates the couples’ relevant medical history and any previous genetic testing. The couple is given an opportunity to ask questions about any genetic concerns that they have. Next a family history is taken and a three-generation family tree is constructed including medical problems that could be inherited. By applying standard genetic analysis to all of the provided information the genetic counselor determines the couples’ risk for having a baby affected with a birth defect or a genetic condition. Then the genetic counselor will explain the testing options available, including risks, benefits and limitations. Also written educational materials and information about community resources can be provided.

The session is intended to empower the couple 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.

Prenatal Screening & Diagnostic Tests

Click to learn more about each type of screen or test.

MaterniT21 Plus Screening

We are proud to offer our patients an exciting new testing option called MaterniT21 Plus. This prenatal screen is a new blood test offered through Sequenom Center for Molecular Medicine. This screen is designed to detect increased amounts of material from chromosome 21 (Down syndrome), chromosome 13 (trisomy 13) and chromosome 18 (trisomy 18) and requires only a maternal blood sample after 10 weeks of gestation. At this time MaterniT21 Plus screening is available to patients meeting one or more of the following criteria:

  • Advanced maternal age (35 years or older at the time of delivery)
  • Family history
  • Abnormal prenatal ultrasound findings
  • Increased risk based on screening results

The benefit of this screen is the high detection rates and low false-positive rates for these chromosome abnormalities with no risk to the pregnancy.

  • 99.1% detection for Down syndrome
  • 99.9% detection for trisomy 18
  • 91.7% detection for trisomy 13

This screen is not currently available to low-risk patients. This screen does not replace first trimester screening, but it is instead used in conjunction with first trimester screening and other prenatal screens to help better determine which patients would benefit from invasive prenatal diagnosis (i.e. chorionic villus sampling or amniocentesis). Genetic counseling is required prior to MaterniT21 Plus Screening to ensure adequate discussion of a patient's available testing options in terms of benefits, risks and limitations as well as to obtain appropriate written informed consent.

The out-of-pocket cost for testing depends upon a patient's insurance and will be discussed further during the genetic counseling session. The test results are typically available in 8-10 business days after the patient's blood is drawn.

More information can be found on Sequenom's website:

www.sequenomcmm.com/home/health-care-professionals/trisomy-21/about-the-test/

To schedule an appointment for a genetic consultation with one of our ABGC board certified or board eligible genetic counselors at one of our convenient locations, please call (845) 483-0500.

Maternal Serum Screening

Maternal Serum Screening for Down Syndrome, Trisomy 18, and Open Neural Tube Defects.

Dr. Lescale offers Maternal Serum Screening for Down syndrome, Trisomy 18, and Open Neural Tube defects. The screening is a noninvasive test performed between 15 and 18 weeks of pregnancy. Dr Lescale points out that it is important to remember a screening test does not provide a diagnosis. Some women may have an abnormal screening, but with follow up testing find their babies are normal. Because screening cannot detect all high-risk pregnancies some women with a normal screening may have babies with defects. Maternal Serum Screening measures three (AFP3) or four (AFP4) different hormones that have been produced by the baby's liver and the placenta. These hormones pass into the mother's blood stream in small amounts. Maternal Serum Screening measures these amounts and compares them to the average level for women in the same week of pregnancy. From this information, the chance of a baby having Trisomy 18, Down syndrome, or open neural tube defect (Spina Bifida) is calculated. The test is completed by analyzing a small amount of blood taken from the mother’s arm. Factors that influence the hormones found in the mother’s blood include: the number of weeks pregnant the women is when the test is performed; weight, race, and age; medications being taken; whether a close relative has Down syndrome or open neural defect; and single or twin pregnancies. Screening leads to the detection of approximately 80% of Down syndrome cases with the AFP4 test and 70% of Down syndrome cases with the AFP3 test. Both tests detect approximately 60-80% Trisomy 18 cases and 75% of open neural tube defects. Dr. Lescale reiterates that an abnormal result does not mean the baby definitely has a defect. The result means the risk is higher than average and further testing is indicated. Causes for an abnormal test include incorrect pregnancy dating and unidentified twins. If an ultrasound rules out these causes Dr. Lescale may recommend a more detailed ultrasound or an amniocentesis.

Approximately 1 in 800 babies is born with Down syndrome. A baby with Down syndrome has an extra chromosome at chromosome number 21. The condition causes physical and mental retardation. However the degree of retardation varies from severe to minimal. Women over age thirty-five or those with a previous child with Down syndrome have a greater risk of having a child affected with Down syndrome.

Trisomy 18 occurs in 1 out of 3000 live births. Trisomy 18 babies have an extra chromosome at chromosome number 18. This chromosomal disorder causes severe mental retardation and numerous birth defects. Only a few Trisomy 18 babies live past their first year.

Open neural tube defects happen when the brain or spine does not develop properly. There are two kinds of open neural tube defects - Spina Bifida and Anencephaly. Spina Bifida is an opening in the bones around the spinal cord. It usually involves the skin and tissues around the spinal cord. This can result in a range of outcomes for the baby. Usually there is some weakness or paralysis of the legs. There may also be problems with bowel and bladder control as well as other medical problems such as Hydrocephalus (an accumulation of fluid around the brain). In most cases Hydrocephalus can be treated, but the problem with the spinal cord cannot be fixed. There is no way to tell how serious the physical problems might be or whether or not the person will have mental disabilities. With anencephaly the brain and back of the baby's skull are incompletely formed. This condition is not compatible with life and babies who have Anencephaly are often stillborn or die shortly after birth. Open neural tube defects occur in 1 or 2 out of every 1,000 births.

For more information log on to www.genzymegenetics.com.

Chorionic Villus Sampling

Chorionic Villus Sampling (CVS) is a service provided by Dr. Lescale. Chorionic Villus Sampling is a diagnostic procedure performed in the first trimester of pregnancy. Because the procedure involves the study of cells that have the same genetic and biochemical makeup as the fetus, chromosomal disorders can be detected. Cystic Fibrosis, Tay-Sachs disease, Down syndrome, Phenylketonuria, and Sickle Cell anemia are among the chromosomal disorders that can be detected.

A woman may wish to have CVS if one of the following conditions applies: she has an abnormal nuchal translucency screen; she will be thirty-five years old or older at delivery; she or the father has had a child or fetus with a chromosomal abnormality; she or the father has a family history of a serious chromosomal abnormality; the baby might have a serious problem passed on only to one sex, such as muscular dystrophy; or she has had two or more miscarriages.

The procedure involves the taking of cells from the placenta via the vagina and cervix (transcervical CVS) or via the abdominal wall (transabdominal CVS). Which way the physician decides to perform the procedure depends upon the position of the placenta and the uterus. With transcervical CVS the physician inserts a tube into the cervix. Then using ultrasound as a guide the physician trims off a sample of the fetal half of the placenta. Transabdominal CVS involves inserting a needle through the abdomen and uterus to the edge of the placenta. The doctor will again use ultrasound to determine the location of the placenta and locate the safest place in which to insert the needle.

There is risk associated with CVS, miscarriage being the biggest occurring in 1 of 200 cases. There is also a slight risk of infection from the procedure.

The benefit of Chorionic Villus Sampling is that results are available very early in the pregnancy. If severe abnormalities are discovered and the mother wishes to terminate the pregnancy, the methods to terminate the pregnancy are simpler and safer for the mother. Also in some instances the fetus may be treated prenatally. Finally, if the results are normal parental anxiety is decreased earlier. Risks and benefits of the CVS should be discussed at length with your doctor.

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 baby or a relative with a chromosome abnormality like Down syndrome, an open spine or skull defect, mental retardation, or other birth defects.
  • Couples who are known or possible carriers of an inherited disorder like Hemophilia, Muscular Dystrophy, Cystic Fibrosis, Tay Sachs, Thalassemia.
  • Couples with an increased risk of having a baby with an open spine/open skull or Down syndrome based on pregnancy screening or ultrasound.
  • Couples who are concerned about having an abnormal baby.

Amniocentesis is a procedure in which a small amount of amniotic fluid is withdrawn from the amniotic sac surrounding the fetus in the uterus. From this fluid a chromosome analysis, open spine and skull defects, and inherited genetic disorders tests can be performed.

Dr. Lescale explains that an amniocentesis requires an experienced physician. While using a continuous ultrasound guidance the physician carefully inserts a slender needle through the mother’s abdominal wall into the uterus. Care is taken to make sure the needle is a safe distance from the fetus. Then a small amount of the amniotic fluid is withdrawn. This fluid contains cells that have been naturally washed from the fetus.

Amniocentesis is associated with the risk of miscarriage. Although medical studies have shown that statistically there does not appear to be an increased risk of miscarriage for women having an amniocentesis versus women who have not had and amniocentesis.

Patients are often reassured when they receive the results of their amniocentesis. In the event that the tests reveal that the patient’s baby has a disorder the prenatal diagnosis helps them to prepare and make informed decisions about their care.

For more information go to www.genzymegenetics.com.

Fragile X Screening

Dr. Lescale offers fragile X syndrome testing.

Fragile X Syndrome is a common cause of mental retardation. Fragile X syndrome is an inherited condition. However, most cases of Fragile X syndrome occur with no family history of mental retardation. Fragile X syndrome is found in all ethnic, social, and racial groups. Also children with Fragile X can be born to women of all ages.

The symptoms of Fragile X vary widely between individuals. Boys seem to have more pronounced symptoms. Behavioral difficulties associated with Fragile X syndrome include autism, hyperactivity, a short attention span, and poor eye contact.

Approximately 1 in 260 normal women carry the gene that causes Fragile X. It is rare for an intellectually normal man to carry the gene. With each pregnancy a carrier woman has a 50% chance of having an affected child.

Fragile X syndrome testing involves the analysis of a small sample of a woman’s blood. Results are usually available in 2 to 3 weeks. If the woman is found to be a carrier, she is offered Fragile X testing for their pregnancies. Testing for Fragile X syndrome is performed by Chorionic Villi Sampling (CVS) at 10-12 weeks or Amniocentesis at around 16 weeks.

Cystic Fibrosis Screening

The American College of Obstetricians and Gynecologists recommends couples planning a pregnancy, or those already pregnant, be informed about Cystic Fibrosis (CF) and CF carrier testing. This information and screening tests are available from Dr. Lescale.

Cystic Fibrosis is a genetic disease affecting about 1 in 3300 people in the United States. An abnormal gene involved in the mucus production in the body causes Cystic Fibrosis. People with CF have chronic lung problems, such as pneumonia, which worsen over time; digestive problems that result in diarrhea and poor growth; and some experience infertility. Symptoms vary greatly among people with Cystic Fibrosis. There are people who reach adulthood before they know they have the disease, but others die from the disease in childhood. Cystic Fibrosis does not affect intelligence or appearance.

Treatments are available, and more are currently being developed. Unfortunately, there is no cure or prenatal treatments. Couples planning a pregnancy may choose to be tested to help in their decision making and planning. Parents may choose to have the testing so that they can educate and prepare themselves to care for a chronically ill child or terminate the pregnancy.

In order for a person to have Cystic Fibrosis he/she must inherit two mutated genes, one from each parent. A carrier of CF has a normal gene and a mutated gene. A carrier of CF has no symptoms of the disease. A carrier mother and a carrier father have a twenty-five percent chance of having a child with Cystic Fibrosis. Anyone can be a carrier of CF regardless of family history. A person’s risk is associated with their ethnic background. Family history of CF only increases the chances of being a carrier.

Umbilical Cord Sampling

Percutaneous umbilical blood sampling (PUBS) is a prenatal diagnostic procedure in which a specially trained doctor extracts a sample of fetal blood from the vein in the umbilical cord. This sample of blood can be analyzed for:

  • Certain chromosomal abnormalities
  • Blood disorders such as hemophilia or anemia
  • Some structural malformations of the fetus
  • Some metabolic disorders
  • Infections affecting the fetus, such as toxoplasmosis or rubella
  • Intrauterine growth retardation
  • Incompatibility between the mother and fetus’ blood type

This procedure is also utilized to perform blood transfusions on the fetus and to administer medication directly to the fetal blood supply. PUBS is also known as umbilical vein sampling, fetal blood sampling, and cordocentesis.

Dr. Lescale may suggest PUBS if ultrasound, amniocentesis, or chorionic villus sampling do not provide adequate information about the condition of the fetus. Also the procedure may be recommended if the doctor suspects the fetus may have an infection or blood disorder.

PUBS is similar to amniocentesis, but instead of sampling amniotic fluid that contains fetal cells fetal blood is extracted. With the aid of advanced imaging ultrasound the doctor inserts a fine needle through the woman’s abdomen into the fetal vein in the umbilical cord and extracts a sample of fetal blood. This blood is then sent to the lab to be analyzed. Results from the analysis are normally available very soon. Because the fetal vein in the umbilical cord is fragile in early pregnancy, the test is not performed prior to 18 weeks of gestation.

The risks associated with PUBS are a miscarriage rate of about 1%, infection, cramping, and bleeding. In each case Dr. Lescale explains the benefits of early diagnosis and the risks associated with the procedure so the mother can make an informed decision about pursuing testing.

Nuchal Translucency Screening (First Trimester Screening)

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.

Ultrasound ImageThis 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 no 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 analysis, 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.

Mother and Daughter Paper Clip
 

Privacy Policy | Site Map | Contact

© 2017 Keith Lescale, M.D., F.A.C.O.G.