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

The Reproductive Genetic Counseling Program at Yale is made up of board certified and licensed genetic counselors and physicians who specialize in prenatal and reproductive genetic risk assessment and the latest genetic testing technologies. Our team provides expert guidance for individuals and couples who are pregnant or planning to become pregnant. As part of the genetic counseling process, our genetic counselors may obtain pregnancy, medical, and family histories; review test results; identify and address issues of concern; describe available screening and diagnostic test options; advocate for their patients; provide short-term psycho-social support; collaborate with specialists; and assist individuals with making decisions that are best for themselves and their families. Common reasons for referral include: Personal or family history of a known or suspected genetic condition Personal or family history of a congenital disorder and/or intellectual disability Multi-fetal pregnancy (twins, triplets, quadruplets, etc.) Abnormal ultrasound findings Recurrent pregnancy loss Abnormal cell-free DNA or maternal serum screening results Interest in pursuing prenatal diagnostic testing (chorionic villus sampling [CVS] or amniocentesis) Some test options that may be discussed during a reproductive genetic counseling session include: Genetic carrier screening First trimester ultrasound with nuchal translucency assessment Second trimester fetal anatomy scan Screening tests Combined first trimester screening Second trimester maternal serum marker screening (i.e. quad screen) Cell-free DNA screening Diagnostic testing Chorionic villus sampling Amniocentesis F.I.S.H. analysis Standard chromosome analysis Microarray analysis/array comparative genomic hybridization Whole exome sequencing Preimplantation genetic testing (P.G.T.) For appointments, please call 203-495-2949

At the Yale Medicine Fetal Care Center—the only of its kind in the state and one of few in the Northeast—we provide comprehensive services to pregnant women whose babies have complex or rare fetal conditions. In addition to taking care of the mother, we treat the baby in utero and after birth. We treat many conditions at the Fetal Care Center, including heart, abdominal, urologic, and neurological conditions. We also have expertise in disorders that affect twins, including twin-to-twin-transfusion syndrome. We understand that having a high-risk pregnancy and a baby with a medical condition that may require surgical treatment is emotionally difficult and may present families with difficult decisions. We want to help our patients and families meet and overcome these challenges by focusing on education and helping them navigate emotional, logistical, and financial challenges. We work collaboratively with an array of professionals, including child-life specialists, clergy, family support services, financial counselors, and social workers. Our team of specialists spans multiple disciplines, including maternal-fetal medicine, neonatology, and pediatric surgery. Our surgeons are among the most experienced in fetal treatment and fetal surgical procedures, including noninvasive fetal anemia assessment, percutaneous umbilical blood sampling (PUBS), in-utero fetal blood transfusion and such therapies as fetoscopy and fetal surgery. They work together with our skilled advanced practice nurses (APRNs) to address the needs of mother and child. Furthermore, a registered nurse serves as a dedicated care coordinator and keeps families informed about all tests and procedures. Our care coordinator provides support to parents, listening to their worries and concerns and fielding questions. We also offer a support group led by our care coordinator and our social worker.