Perinatal Diagnostic Unit
We go beyond traditional thinking
The Perinatal Diagnostic Unit, located in the Donna A. Sanzari Women’s Hospital, provides comprehensive diagnostic testing and therapeutics for women who are pregnant or those considering pregnancy. The unit is accredited by the American Institute of Ultrasound Medicine. The perinatal diagnostic unit has a total of 8 RDMS certified sonographers who work closely with the maternal-fetal specialists using the latest sonography machines to diagnose complex fetal pathologies.
The division also works collaboratively with the radiology department for enhanced fetal/placental testing by utilization of ultrafast MRI. Each year, the Division of Maternal-Fetal Medicine performs over 12,000 evaluations on pregnant women who present with a whole range of fetal and/or maternal medical or surgical conditions that can complicate their pregnancies. These include and are not limited to women carrying multiple fetuses, diabetes, hypertension, renal disease, infections, tumors in pregnancy, transplant patients, cervical insufficiency, pre-maturity, genetic disorders, birth defects and surgical complication of pregnancies to mention a few.
Each year, the Division of Maternal-Fetal Medicine performs over 12,000 evaluations on pregnant women.
These evaluations include women who present a whole range of fetal and/or maternal medical or surgical conditions that can complicate their pregnancies.
- Targeted sonographic evaluation of structural fetal anomalies
- Prenatal diagnostic procedures: amniocentesis, chorionic villus sampling (CVS), fetal blood sampling, fetal skin/muscle biopsy, fetal vesicocentesis and placental biopsies.
- Ultrafast fetal MRI to pinpoint structural abnormalities
- Fetal Echocardiogram
- Genetic and prenatal counseling
- Medical ethics panel review
- Minimally invasive fetal surgery
- Diagnostic fetoscopy
- 3D-4D sonography to diagnoses fetal soft tissue anomalies
- Hydrosonogram (to detect uterine abnormalities in patients with recurrent pregnancy losses
- Laparoscopic abdominal cerclage
The division also works collaboratively with the radiology department for enhanced fetal/placental testing by utilization of ultrafast MRI. These include, but are not limited to:
Amniocentesis can provide information about genetic factors, the condition of the fluid, and the level of maturity of the fetus. Amniocentesis may be recommended for women at risk for chromosomal or genetic abnormality. Pregnancy risk factors include an advanced maternal age, abnormal ultrasound or chemical screening, or previous child with a chromosomal or metabolic abnormality. It is also recommended when both parents carry a recessive inherited disorder. Amniocentesis can also be done electively should the patient desire to do so after counseling by her physician and the genetic department. Amniocentesis examines the fetal cells, chemicals, and micro-organisms in the amniotic fluid that surrounds a fetus. The test is performed by a physician under ultrasound guidance, who inserts a needle through the abdominal wall into the uterus, and withdraws a small amount of fluid. The fluid is then tested, and results are usually ready within 12 days.
An expedited preliminary result (FISH) is available to most of our patients within 24 hours of the procedure if applicable.
Chorionic Villus Sampling (CVS)
CVS has the advantage that it can yield results earlier than amniocentesis. This can be helpful if the parents wish to consider therapeutic termination of the fetus in the event of an abnormality. CVS is used to detect genetic disorders such as Tay-Sachs disease, sickle-cell anemia, cystic fibrosis, thalassemia, and Down syndrome. It is performed by a maternal-fetal medicine specialist between the 10th and 13th week of pregnancy. During CVS, ultrasound is used to guide the placement of the catheter or needle depending on whether the test is performed through the abdomen or vagina. Results generally take about 7 to 10 days but a preliminary. expedited result is available to most patients within 24 hours.
Other diagnostic tests performed in the unit include:
Percutaneous Umbilical Blood Sampling (PUBS)
Percutaneous umbilical cord blood sampling is a diagnostic procedure in which a doctor extracts a sample of fetal blood from the vein in the umbilical cord. This blood can be analyzed to detect chromosomal defects, infections, analysis of fetal hemoglobin or other abnormalities. PUBS is also known as umbilical vein sampling, fetal blood sampling or cordocentesis.
Fetal Reduction is a therapeutic procedure in which a patient elects to reduce the number of fetuses to lower the risk of extreme prematurity. This procedure is also offered to the patient with higher order multiples for therapeutic reasons.
First Trimester Screening
This screening includes nuchal translucency and serum blood markers to detect fetuses at risk for basic chromosomal and cardiac anomalies.
Ultrasonography (ultrasound or sonogram)
Ultrasonography has been used to date to examine fetuses during pregnancy. It has proven to be an exceptional tool in helping to provide a view of the growing fetus. An ultrasound exam uses sound waves bounced off internal organs to provide an image of the fetus without the hazards of radiation exposure. Almost every pregnancy today is evaluated with ultrasound study. The Perinatal Diagnostic Unit provides the full range of ultrasound examination from dating to detailed surveys of fetal anatomy to targeted sonography. 3-D or 4-D ultrasounds are also available to assess certain fetal conditions.
Second Trimester Ultrasound and Serum Screening
This test complements the first trimester screen to enhance the detection rate of certain fetal chromosomal anomalies.
Amniotic fluid volume (AFV or AFI)
This evaluates placental sufficiency and fetal renal status by indirectly checking the amount of fluid (amniotic) around the baby.
Biophysical Profile (BPP) to Evaluate Fetal Status
Fetal gross body movements, respiration, flexion/extension, and amniotic fluid quantity are observed during this sonographic fetal assessment.
This is a non-invasive test that indicates resistance of fetal blood flow through the placenta, which can be associated with growth failure of the fetus. It may also be used to measure blood flow to the brain to assess fetal anemia.
Fetal echocardiography is a specialized sonography exam that can detect defects in the fetus’ heart.