Maternal-Fetal Medicine/Perinatology

Overview

Maternal and Fetal Medicine (MFM) is a sub-specialty of obstetrics and gynecology dedicated to the care of women whose pregnancies are or may be at high-risk. After completing a residency in obstetrics and gynecology, MFM physicians complete a two- or three-year fellowship. Below are some reasons women may seek care from a MFM.

Patients undergoing diagnostic or therapeutic procedures during pregnancy, such as:

  • Comprehensive ultrasound
  • Chorionic villus sampling
  • Genetic amniocentesis, fetal surgery or treatment

Women with medical or surgical disorders, such as:

  • Heart disease
  • High blood pressure
  • Preeclampsia (toxemia)
  • Diabetes or other endocrine disorders
  • Kidney or gastrointestinal disease
  • Infectious diseases

Healthy women whose pregnancy is at markedly increased risk for adverse outcome, such as:

  • Abnormal AFP (alpha fetoprotein) blood test
  • Twins, triplets or more
  • Current or recurrent pre-term labor and delivery
  • Premature rupture of membranes
  • Recurrent pregnancy loss
  • Suspected fetal growth restriction (baby not growing enough)
  • Placenta previa

The most common reason women seek care from a MFM is prenatal screening and prenatal diagnosis to detect birth defects such as neural tube defects, Down syndrome, chromosome abnormalities, genetic diseases, as well as spina bifida, cleft palate, Tay-Sachs disease, sickle cell anemia, thalassemia, cystic fibrosis and Fragile X syndrome. The testing can be invasive, such as chorionic Villus sampling (CVS), or non invasive, such as ultrasound or biochemical blood testing.

Our Services

Genetic Counseling

Genetic Counseling

Genetic counseling is very important if you are over age 35, have a family history of a genetic disorder or have had an adverse outcome in a previous pregnancy. The counseling provides educational, informational and supportive directives and can help guide you through the available prenatal testing and explain the results.

Testing

Invasive Testing

Chorionic Villus Testing (CVS)
Chorionic villus sampling (CVS) is the removal of a small piece of placenta tissue (chorionic villi) from the uterus during early pregnancy to screen the baby for genetic defects. CVS can be done through the cervix (transcervical) or through the abdomen (transabdominal). The techniques are equally safe when done by a provider with experience, although miscarriage rates are slightly higher when done through the cervix. The health care provider will use ultrasound to pick the safest approach and as a guide during sampling.

An ultrasound is performed to determine the position of the uterus, the size of the gestational sac and the position of the placenta within the uterus.

The transcervical procedure is performed by inserting a thin plastic tube through the vagina and cervix to reach the placenta. The provider uses ultrasound images to help guide the tube into the appropriate area and then removes a small sample of chorionic villus tissue.

The transabdominal procedure is performed by inserting a needle through the abdomen and uterus and into the placenta. Ultrasound is used to help guide the needle, and a small amount of tissue is drawn into the syringe.

The risks of CVS are only slightly higher than those of an amniocentesis.

Possible complications include:

  • Bleeding
  • Infection
  • Miscarriage
  • Rh incompatibility in the mother
  • Rupture of membranes

Signs of complications include:

  • Excessive bleeding
  • Excessive vaginal discharge


Amniocentesis
Amniocentesis is a test during pregnancy that removes a small amount of fluid from the sac around the baby. The doctor will find the exact location of the baby, usually by performing an ultrasound.

An area of skin on the belly is cleansed. The doctor inserts a long, thin needle through the abdomen and into the womb (uterus). A small amount of fluid is taken from the fluid-filled sac that surrounds the baby and sent to the lab for analysis.

Risks are minimal, but may include:

  • Infection or injury to the baby
  • Miscarriage
  • Leaking of amniotic fluid
  • Vaginal bleeding

Non Invasive Testing

Nuchal Translucency (NT)
The NT test uses ultrasound to measure the clear (translucent) space in the tissue at the back of your developing baby's neck. Babies with abnormalities tend to accumulate more fluid at the back of their necks during the first trimester, causing this clear space to be larger than average. The test will screen for chromosome abnormalities and, when combined with blood work, neural tube defects.

The NT scan must be done when you're between 11 and 13.5 weeks pregnant. It is often combined with blood work. The final results of the test are available after the blood work is completed. There are many different blood tests available with the NT test. The physician or genetic nurse will discuss the options and help guide you to the best test for you. The results will be given as a positive or negative test, and will give you numbers concerning your risk of a chromosome problem. If the test is positive showing an increased risk for a chromosome problem, further testing will be offered to you. A thickened measurement may also indicate a cardiac defect.

Remember that a normal screening result (screen negative) isn't a guarantee that your baby has normal chromosomes, but it does suggest that a problem is unlikely. Likewise, an abnormal screening result (screen positive) doesn't mean that your baby has a chromosomal problem — just that he's more likely to have one. In fact, most screen-positive babies turn out not to have a problem.

Bio-Chemical Testing

Blood tests
First trimester screening - Combined

The blood screen measures two pregnancy related hormones: hCG and PAPP-A. A sample of your blood is taken between 11 and 13 weeks of pregnancy, at the same time the NT ultrasound scan is performed.

The substances in your blood that are markers of Down syndrome are pregnancy associated plasma protein A (PAPP-A); and human chorionic gonadotropin (hCG).

The specific ultrasound marker of Down syndrome is nuchal translucency (NT) thickness.

In pregnancies with Down syndrome, PAPP-A tends to be low, and NT and hCG tend to be raised.

The values of these markers are used together with your age to estimate the risk of having a pregnancy affected with Down syndrome.

The combined accuracy rate for the screen to detect the chromosomal abnormalities mentioned above is approximately 85 percent with a false positive rate of 5 percent. This means that:

  • Approximately 85 out of every 100 babies affected by the abnormalities addressed by the screen will be identified.
  • Approximately 5 percent of all normal pregnancies will receive a positive result or an abnormal level.

Screenings

Quad Screen

Drawn between 15 and 20 weeks of pregnancy, this test screens for chromosome problems and open neural tube defects.

The quad screen test is a maternal blood screening test that looks for four specific substances: AFP, hCG, Estriol and Inhibin-A.

  • AFP: alpha-fetoprotein is a protein that is produced by the fetus
  • hCG: human chorionic gonadotropin is a hormone produced within the placenta
  • Estriol: estriol is an estrogen produced by both the fetus and the placenta
  • Inhibin-A: inhibin-A is a protein produced by the placenta and ovaries

A positive result does not mean the baby has a problem, just that the baby has an increased risk of a problem and warrants further investigation.

Integrated Screen

The integrated screen is a two-part blood test with the first part of the test done with the NT test. It is a screening test for Down syndrome, trisomy 18 and open neural tube defects.

  • A test is performed on the mother’s blood at 10 weeks three days to 13 weeks five days to measure the levels of a protein normally found in the blood of all pregnant women
    • PAPP-A (pregnancy associated plasma protein-A)
  • A laboratory test performed on the mother’s blood at 15 to 18 weeks to measure the levels of four proteins normally found in the blood of all pregnant women
    • AFP (Alpha fetoprotein)
    • A laboratory test performed on the mother’s blood at 10 weeks and three days to 13 weeks and five days hCG (Human chorionic gonadotropin)
    • E3 (unconjugated estriol)
    • Inhibin A

The Integrated Screen will detect up to 92 percent of babies affected with Down Syndrome and up to 90 percent with Trisomy 18. It will also detect up to 80 percent of babies who have open neural tube defects such as Spina Bifida. Since the first and second trimester results are combined, your risk assessment will not be available until your second trimester blood work is completed.

Ultrasound

Ultrasound

An ultrasound exam is a procedure that uses high-frequency sound waves to scan a woman's abdomen and pelvic cavity, creating a picture (sonogram) of the baby and placenta. Ultrasounds are diagnostic procedures that detect or aid in the detection of abnormalities and conditions related to pregnancy. They may be ordered throughout your pregnancy for many different reasons. Below is a list of the most common reasons ultrasound is ordered.

  • First Trimester:
    • Confirm viable pregnancy
    • Confirm heartbeat
    • Measure the crown-rump length or gestational age
    • Assess abnormal gestation
    • Nuchal Translucency
  • Second Trimester:
    • Diagnose fetal malformation
    • Weeks 13-14 for characteristics of potential Down syndrome
    • Weeks 18-20 for congenital malformations
    • Identify structural abnormalities
    • Confirm multiples pregnancy
    • Verify dates and growth
    • Confirm intrauterine death
    • Identify hydramnios or oligohydramnios – excessive or reduced levels of amniotic fluid
    • Evaluate fetal well-being
    • Assess cervical length
  • Third Trimester:
    • Identify placental location
    • Confirm intrauterine death
    • Observe fetal presentation
    • Observe fetal movements
    • Identify uterine and pelvic abnormalities of the mother

A detailed ultrasound is recommended in the second trimester to assess fetal anatomy, placental position and maternal pelvic structure.

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