First Trimester Screening
Definition
First trimester screening is a prenatal diagnostic procedure performed during the first trimester of pregnancy. It combines a blood test and an ultrasound examination to assess the risk of chromosomal abnormalities, such as Down syndrome, in the developing fetus.
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Pediatrics
Our uncompromising faculty and staff are dedicated to the welfare of children and adolescents. One of two major pediatric centers in Connecticut, Yale offers an extensive range of services for patients through our 14 specialties. In addition, we have several interdisciplinary centers and programs that involve collaborations with multiple departments throughout Yale Medicine and Yale New Haven Children’s Hospital. Thanks to our reputation for comprehensive pediatric care, we serve as a regional and national center for referral and consultation. Many of our physicians are internationally recognized for their innovative approaches to the diagnosis and treatment of conditions including arrhythmias, diabetes, cystic fibrosis, childhood cancers, juvenile diabetes, dyslexia, blood disorders, infectious diseases, and complications of premature birth, as well as many other disorders. We are leaders in the global pediatric community, advocates for childhood health and development, and innovators in research. We rank among the top pediatric centers in the country with respect to National Institutes of Health support for research. Neonatal and pediatric ICUs that serve our most vulnerable patients with the highest level of care 24/7 subspecialty telephone consultation service for primary care clinicians with expected response time of three minutes More than 20 years of experience with neonatal and pediatric Extracorporeal Membrane Oxygenation, a sophisticated machine that acts as an artificial heart and lungs, crucial for some seriously ill infants One-call center that provides centralized appointment scheduling for all pediatric specialties Close collaboration with other Yale departments to provide such services as molecular and genetic diagnostic services, state-of-the art management of high-risk fetuses and newborns, bone marrow transplantation, and management of complex malignanciesObstetrics, Gynecology & Reproductive Sciences
Yale’s Department of Obstetrics, Gynecology and Reproductive Sciences is dedicated to helping women at all stages of life. A global leader in women’s health, Yale is known for its innovative contributions to diagnosis and treatment, including: Developing the first fetal echocardiography Pioneering the first obstetrical ultrasound Developing the first fetal blood sampling and first fetal transfusion Offering the first chorionic villus sampling in New England Co-authoring the first U.S. study for first-trimester risk assessment Developing the first comprehensive first-trimester risk assessment program in New England Inventing fetal monitoring and many prenatal diagnostic and treatment techniques Our physicians tap into the broad expertise of our entire institution to provide compassionate, customized care for all of our patients, from adolescence through adulthood. Through eight subspecialty areas, we offer the most advanced diagnostics and therapies that harness the latest advances in technology. Recent clinical research includes a new emphasis on therapeutic vaccines in gynecologic oncology, novel treatments for endometriosis and menopause, a comprehensive patient safety program in maternal-fetal medicine, and an advanced fetal therapy program. Specialized care is offered in the following areas: Family planning Gynecologic oncology Gynecologic specialties Maternal-fetal medicine Obstetric specialties & midwifery Pediatric & adolescent gynecology Reproductive endocrinology & infertility Urogynecology & reconstructive pelvic surgery Maternal-fetal medicine service offers 24-hour on-site dedicated space for complex pregnancies and fetal care First in Connecticut to perform in-utero laser therapy in pregnancies complicated by twin-to-twin transfusion syndrome Outstanding survival outcomes for all types of gynecologic surgery, from open to robotic Pioneer in caring for patients with sexual intimacy issues after cancer surgery Fetal therapy program Midwifery and birthing centerPrenatal Genetic Diagnosis Program
The Prenatal Genetic Diagnostic Program provides expert genetic screening, testing, and counseling for parents. Our tests and services includefirst-trimester screening, chorionic villus sampling (CVS), amniocentesis, fetal blood sampling (FBS), and many others. After diagnosis, we provide counseling and connect patients to appropriate support networks to help parents adjust to and prepare for their child's special needs. In addition to pioneering the development of CVS and FBS, Yale has the most experienced team for these procedures in New England. Between 11 and 12 weeks after a woman's last menstrual period, she can instantly learn the baby's risk for Down syndrome and other abnormalities with our safe, noninvasive first-trimester risk assessment. Our team of specially-certified physicians, sonographers, and genetic counselors will provide patients with accurate information as quickly as technology allows. The procedure is simple: Patients provide a blood sample at least one week before their scheduled appointment, then visit us between weeks 11 and 14 of their pregnancy. Our comprehensive prenatal testing and genetic counseling services include: First and second trimester screenings Targeted ultrasound (formerly known as Level II ultrasound). We are equipped to perform targeted vaginal ultrasounds at an early gestational age, and provide diagnostic information early in a woman's pregnancy. Antenatal testing services. These services include nonstress testing, biophysical profiles, fetal versions, and PG gel insertions to help ensure fetal well-being throughout pregnancy. Fetal echocardiography. The Yale Fetal Cardiovascular Center is the most experienced diagnostic and treatment program of its kind in New England and provides the full range of prenatal surgical care. Prenatal ultrasound testing is typically performed during the second trimester to diagnose cardiac conditions in an unborn baby. Chorionic villus sampling (CVS). This is usually performed between the 10th and 12th weeks of pregnancy and involves the removal of a small sample of the placenta from the uterus. Amniocentesis. This is usually performed during the 15thweek of pregnancy or later, the procedure removes a sample of amniotic fluid from the uterus for evaluation. Fetal blood sampling. Fetal bloodis collected directly from the umbilical cord orfetus to test for signs of anemia and otherblooddisorders. Fetal tissue biopsy. This is typically performed between the 17thand 20thweeks of pregnancy, for patients who carry an abnormal gene for a severe skin disease to find out whether or not their fetus is similarly affected. Fetal karyotyping. This involving the collection of chorionic villi, amniotic fluid, or fetalblood to obtain and analyze chromosomes for abnormalities. Biochemical testing Fluorescence in situ hybridization (FISH) analysis. This involves laboratory testing to detect chromosomal abnormalities and other genetic mutations in a patient