State-of-the-art prenatal diagnoses and some fetal therapies that are often only available in larger metropolitan areas are now available at the Perinatal Center.  The center is accredited by American Institute of Ultrasound Medicine. Maternal-fetal medicine is a field that specializes in the care of mothers with medical diseases and fetuses suspected of genetic or serious structural abnormalities that cause pregnancies to be considered high risk. There are new fetal diagnostic tests available to women now that are non-invasive and less expensive. Today’s ultrasound technology allows for the screening of a number of chromosomal abnormalities by using ultrasound genetic markers. If there are markers seen on the ultrasound, then genetic counseling is offered prior to any invasive prenatal diagnostic procedures to confirm the chromosomal diagnosis. In some cases, if there is no aneuploidy present, we can provide minimally invasive fetal therapy for some structural defects. For complex fetal heart defects advanced consultation services with Fetal Care Center of Cincinnati at Cincinnati Children's Hospital are available.

 SERVICES AVAILABLE AT THE PERINATAL CENTER

1. Comprehensive Preconception, Genetic and Teratogen Counseling

2. Prematurity Prevention Program: Designed to decrease perinatal morbidity and mortality in the area, this program incorporates the transvaginal ultrasound evaluation of cervical length assessment and perinatal consultation.

3. Comprehensive Diabetes and Pregnancy Program: Key personnel for this program includes trained RN'S and a registered dietician .These nurses are trained in the Sweet Success program of California, which was developed to improve pregnancy outcomes for women with overt diabetes prior to conception and for women who develop gestational diabetes during pregnancy. The nurses conduct the initial intake and teach patients how to maintain blood sugar panels and give insulin injections if needed. The dietitian offers nutrition counseling and gives patients the special Singh Diet, which is different from the American Diabetes Association diet. Dr.Singh will meet with the patient, do an ultrasound assessment  and make recommendations regarding diet, insulin therapy and the need for fetal biophysical surveillance. The team approach helps obtain the best fetal-maternal outcome for these high-risk pregnancies.

4. First Trimester Ultrascreening: This screening is a combination of maternal age, fetal Nuchal Translucency (NT) and measurement of two pregnancy proteins: Free Beta-hCG and PAPP–A that can give a risk assessment for babies with Trisomy 21 and 18. This protocol is based on the initial multi-center study done between 10-14 weeks gestation at Harris Birthright Center in the United Kingdom. This data has now been confirmed in the US. NT is an ultrasound measurement of the amount of fluid accumulated under the skin behind the neck. These studies demonstrated that:
            a. In normal pregnancies, NT thickness increases with gestation.
            b. In chromosomally abnormal pregnancies, NT is increased excessively
           c. The risk of Trisomies can be derived by multiplying the background maternal age and gestation-related risk by a likelihood ratio that depends on the degree of deviation in NT measurement from the expected normal median for crown-rump length. Ultrascreen is the most accurate, earliest and safest prenatal screening test available. The blood test alone at 9-14 weeks identifies 68 percent of Down Syndrome and 90 percent of Trisomy-18 fetuses. Ultrascreen (the blood test plus NT) at 11-14 weeks identifies 91 percent of Down Syndrome, 97 percent of Trisomy 18 and 40 percent of heart defects and some other structural defects.  This test cannot diagnose or rule out any specific condition. It is used only to estimate the risk.  This is to be followed by maternal serum AFP at 16-18 weeks to rule out neural tube defect and Genetic ultrasound at 18-20 weeks to rule out structural defects.

Maternal serum markers done in the first and second trimester are not a substitute for CVS or amniocentesis because:
            a. They do not give a diagnosis.
            b. They estimate a risk for only two chromosomal abnormalities: Trisomy 21 and 18.
            c. They will miss all other types of chromosomal abnormalities.

5. Chorionic Villus Sampling (CVS): The American College of Obstetricians and Gynecologists (1994) and the American College of Medical Genetics (1993) recommend that all women over 35 or older at delivery or with a positive family history routinely be offered amniocentesis or Chorionic Villus Sampling (CVS) to diagnose 99.9 percent of all chromosomal abnormalities. If there is increased NT found in the first trimester fetus, we can now offer to patients further testing by CVS by removing 10-25 mg of the chorion (placenta) which gives a definitive chromosomal diagnosis. CVS can be done either through a catheter vaginally or by needle abdominally, like amniocentesis. The procedure has a 1 percent risk for miscarriage. Preliminary results are available within three-to-five working days, and the final report is usually available in two weeks. The CVS test is then followed by maternal serum AFP to rule out neural tube defect and a full anatomy survey by ultrasound at 14-18 weeks of gestation, which can rule out more than 80 percent of structural defects. Some developmental abnormalities such as cleft lip/palate, hypoplastic heart and certain types of hydrocephalus, if suspected, need a further follow-up ultrasound in the third trimester.

6. Evaluation by Ultrasound for Genetic Markers: In the second trimester, the fetus can be extensively evaluated for aneuploidy by ultrasound genetic markers. The ultrasound markers that are documented by the sonographers are in addition to the fetal anatomy are: choroid plexus cysts, pyelectesis, hypoplasia or absence of the middle phalanx of the fifth digits in both hands, increased nuchal fold, echogenic bowel, echogenic intracardiac focus, short long bones, the presence of major structural defects including heart defects and sandal gap toes, among others. The patient is counseled and further testing by amniocentesis is offered to confirm the suspected chromosomal diagnosis.
7. Amniocentesis: Amniocentesis is performed under ultrasound guidance at 16-18 weeks, removing 20 cc. of amniotic fluid that is sent off for chromosomal and biochemical analysis. Amniocentesis carries a 0.5-1 percent risk of miscarriage, depending on the gestational age.

8. Fetal Blood Sampling: Fetal blood sampling can be performed to assess fetal anemia and in utero blood transfusions if indicated, e.g., Rh sensitization or parvovirus infections.

9. Other Evaluation Measures: Other evaluation measures to follow high-risk pregnancy include bi-weekly biophysical profiles by ultrasound alternating with non-stress fetal heart rate monitoring. Umbilical artery doppler ultrasound is used to follow intrauterine fetal growth restriction (IUGR), and the middle cerebral artery Doppler velocity flow to monitor fetal anemia and sometimes in severe IUGR. 

While the results of these tests may occasionally raise very serious questions for patients, a well-informed patient is best prepared to make decisions about her pregnancy. In some cases, the question is not whether to continue the pregnancy, but rather may involve delivering the baby early or even performing  fetal treatment in-utero to buy time until the fetus is capable of independent existence outside the uterus and more definitive treatment can then be done by an appropriate sub-specialist.

Birth defects occur in one out of every 28 pregnancies, according to the March of Dimes. The decision to have prenatal screening is a personal one that should be made between the mother and her physician. Our goal is to enhance the long-term quality of life for the babies, and our passion is to bring hope to families who receive news that they are of increased or high risk for having a child with a serious or ultimately fatal condition. If you have a patient who may benefit from the newer, less invasive tests that are now available, please call the Perinatal Center at (304) 526-2124.

Dr Singh has been trained at Brigham and Women's hospital and Joslin Diabetes Center at Harvard Medical School in  Boston, University of Colorado Health Sciences Center and in various prenatal diagnostic procedures in Paris and at Harris Birthright  Center in the United Kingdom. She is board-certified in OB/GYN and Maternal-Fetal Medicine