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

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 center

Treating complicated pregnancies is our priority. We provide care for the entire spectrum of conditions related to high-risk pregnancy, and for women whose pregnancies require special testing, monitoring, treatment, and care . We offer state-of-the-art approaches to caring for women with high-risk pregnancies related to diabetes, hypertension, heart disease, and genetic disorders, among other medical conditions that can complicate a pregnancy. Maternal-Fetal Medicine (MFM) at Yale pioneered the development of chorionic villus sampling (CVS) and fetal blood sampling (FBS), and has the most experienced team for these procedures in New England. In addition, our skilled specialists, who are internally recognized for their expertise, conduct fetal echocardiography to diagnose congenital heart disorders of the fetus. We offer a variety of services for our patients across the following specialty programs: High-Risk Pregnancy Program, which supports ongoing care and management for women with a history of pregnancy risks or current medical complications. Prenatal Genetic Diagnostic Program, which provides expert genetic screening and testing for MFM patients. Available tests include first-trimester screening, CVS, amniocentesis, and FBS. After diagnosis, we provide counseling and connect patients when necessary to appropriate support networks to help parents adjust to and prepare for their child's special needs. Recurrent Pregnancy Loss Program, offered in conjunction with Yale’s Reproductive Endocrinology and Infertility Section. Our multidisciplinary team of pathologists, geneticists, and perinatologists uses a whole-patient approach to help couples with recurrent miscarriages and/or pregnancy losses. Other services offered in our MFM section include: First-trimester risk assessment for Down Syndrome Targeted ultrasound Fetal therapy, including percutaneous umbilical blood sampling (PUBS) and intrauterine transfusion Antenatal testing Diabetes management MFM physicians can also co-manage patients with high-risk pregnancies with referring practitioners. We can develop care plans with community obstetricians for cases that require intensive oversight by the team, or consultative guidance alone.