Our Services And Expertise Help Us Care For You
There are many circumstances that place a pregnancy at high risk. Your doctor may have referred you to PDC because of a particular medical condition, a family history of a genetic disorder or birth defect, a poor outcome with a prior pregnancy, an abnormal maternal serum screen (blood test), complications related to this pregnancy or a suspected abnormality with your baby. Whatever the reason for the referral, we offer a variety of services that allow us to assess your pregnancy.
Prepregnancy Evaluation & Consultation
All new patients seen at PDC undergo a complete evaluation. A number of prior conditions might put a pregnancy “at risk.” A thorough review of your medical history, reproductive history, family history and genetic history permit us to determine any risk factors that might jeopardize your pregnancy. This in turn lets us discuss you’re your specific risks, talk about options, offer further testing if needed and make recommendations regarding an individualized plan of management, in hopes of reducing those risks as much as possible. A full consultation along with recommendations is sent to your physician, usually within 24 hours of your visit.
Genetic Testing & Counseling
Although we see patients for a variety of reasons, many are referred to PDC for counseling and possible genetic testing. Based on your age, ethnicity, family history and/or genetic history, we discuss different testing options so you can make an informed decision as to which test, if any, is right for you. We offer screening tests for chromosomal abnormalities such as Down syndrome and Trisomy 18, carrier testing for diseases like cystic fibrosis and Tay-Sachs disease, and diagnostic tests for a range of chromosome abnormalities as well as a range of genetic disorders.
First Trimester Screening First trimester screening is a simple, noninvasive test offered between 11 and 13 weeks of pregnancy that screens for certain chromosome abnormalities. It combines a blood test from the mother with a specialized ultrasound test called a nuchal translucency (NT) to give you a risk for having a baby with either Down syndrome or Trisomy 18. Because personnel (i.e. physician and/or sonographer) must be certified in NT to perform the test, first trimester screening is not available in most obstetricians’ offices.
Except for those referred for preconception counseling, all patients seen at PDC will undergo some kind of ultrasound examination depending on the indication. Although we perform all types of ultrasounds (i.e. limited, first trimester, standard, transvaginal, 3-D/4-D, etc.), we specialize in High Resolution or “Targeted” Ultrasound Examinations. These are high-level ultrasounds that are intended to answer a specific question or address a specific issue such as does my baby have a birth defect or genetic problem. Indications for a high resolution ultrasound include but are not limited to advanced maternal age, prior child with a birth defect or chromosome abnormality, a suspected fetal abnormality of a previous ultrasound, a positive screen for a chromosome abnormality, disorders of fetal growth or amniotic fluid volume, twins, etc. At PDC we are able to offer High Resolution Ultrasound because of our sensitive, state-of-the-art equipment, our sonographers who are certified in obstetrical ultrasound and most importantly Dr. Perry’s special training in ultrasound and prenatal diagnosis.
Biophysical Profile (BPP)
A biophysical profile is a type of fetal assessment used in the third trimester to appraise fetal well-being. Using ultrasound to evaluate the amniotic fluid volume, fetal breathing movements, fetal tone and fetal movements in general, it allows us to determine the status of your baby and give reassurance. Indications for a BPP include but are not limited to high-risk medical condition such as diabetes, hypertension or autoimmune diseases, concerns about fetal growth, disorders of amniotic fluid volume and a history of a prior fetal demise or stillbirth. BPP’s are usually performed once or twice a week depending of the clinical situation. If twice weekly fetal assessments are indicated, your obstetrician may request that you be seen once a week at PDC for a BPP and once a week in their office.
Doppler Flow Studies
Doppler flow studies or Doppler velocimetry uses ultrasound to determine the rate and direction of blood flow through the fetal heart and/or blood vessels. Indications for Doppler studies include but are not limited to suspected fetal heart abnormalities, certain viral infections, fetal growth restriction and possible fetal anemia. Doppler flow studies are often used in combination with BPP’s to determine fetal well-being.
Genetic amniocentesis is a prenatal diagnostic test generally done between 16 and 20 weeks gestation. It is performed under ultrasound guidance to collect a small amount of amniotic fluid from around the baby, which is then sent to a genetic laboratory to determine the baby’s chromosomes or for other genetic testing. Although the American College of Obstetricians and Gynecologists recommends that all women, regardless of age, consider the option of amniocentesis for the diagnosis of all chromosome abnormalities, one of the most common reasons for a genetic amniocentesis is advanced maternal age (i.e. maternal age of 35 or older). Other indications for a genetic amniocentesis include but are not limited to a prior child with a chromosome abnormality, a positive screening test for Down syndrome or Trisomy 18, a family history of an inherited genetic disease, a fetal abnormality observed on ultrasound, etc. The results of most genetic amniocentesis are normal and therefore reassuring.
Chorionic Villus Sampling (CVS)
CVS is a prenatal diagnostic test performed between 10 and 13 weeks gestation. Under ultrasound guidance a small sample of placental cells, which reflect the genetic makeup of the baby, are collected for analysis. Similar to amniocentesis, CVS is used to detect chromosome abnormalities or certain genetic disorder in the baby. As with amniocentesis, the indications for CVS include but are not limited to advanced maternal age, a positive first trimester screen for Down syndrome or Trisomy 18, a prior child with a chromosome abnormality, a family history of an inherited genetic disease, etc. Because the results of CVS are received earlier in the pregnancy, it is a popular alternative to genetic amniocentesis.
Fetal echocardiography is a test that uses ultrasound to evaluate the details of the fetal heart. Although fetal echocardiography cannot detect all heart abnormalities, it is useful for excluding many of the major congenital heart defects. Indications for a fetal echocardiogram include but are not limited to a suspected fetal heart defect, mother or prior child with a congenital heart defect, a fetal arrhythmia, a non-cardiac birth defect, maternal diabetes, an increased nuchal translucency, an IVF pregnancy, etc. Because Dr. Perry works closely with the pediatric cardiologist, he can easily refer you for further evaluation if needed.
Percutaneous Umbilical Blood Sampling (PUBS)
Percutaneous umbilical blood sampling is an invasive procedure performed under ultrasound guidance where a needle is inserted into the umbilical cord to obtain a blood sample from the baby. The most common reason for a PUBS procedure is to determine the baby’s red blood cell count and exclude the presence of severe fetal anemia. If significant anemia is detected at the time of the PUBS, than a blood transfusion to the fetus can be carried out.