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

Yale is a major academic referral center for clinical genetics services. Clinical genetics is a multidisciplinary team within the Department of Genetics that provides clinical evaluations, diagnostic testing, genetic counseling, and management for children and adults with hereditary disorders. We perform comprehensive and state-of-the art genomic testing in dedicated laboratories and interpret the results using the most up-to-date technology. All care is provided in a patient- and family-oriented manner. We care for patients with a variety of conditions including: Genomic disorders, including chromosomal abnormalities such as Down syndrome and chromosome microdeletion and microduplication disorders such as 22q11 deletion syndrome, William syndrome, and WAGR syndrome, among many others Congenital malformations, including craniosynostosis, cleft lip and palate, limb anomalies, and other conditions with distinctive features Developmental delay, intellectual disability, and autism spectrum disorders such as fragile X, Rett, Phelan-McDermid, Angelman, Prader-Willi syndromes Connective tissue disorders such as Ehlers-Danlos and Marfan syndrome Short stature syndromes and skeletal dysplasia Inherited neurological disorders, including neurometabolic disorders, epilepsy, and neuromuscular conditions Inherited heart disorders, including cardiomyopathy, congenital heart malformations, and genetic syndromes with heart manifestations Lysosomal storage disorders such as Pompe and MPS diseases Hereditary cancer Abnormal newborn screening and inborn errors of metabolism Conditions involving Differences in Sexual Development (DSD) Neurocutaneous disorders such as neurofibromatosis type 1 and tuberosclerosis complex (TSC) Syndromic and non-syndromic hearing loss Ophthalmological abnormalities, including aniridia, cataract, and retinal dystrophy Undiagnosed and rare genetic diseases Although genes were known to exist on chromosomes, chromosomes are composed of both protein and DNA, and scientists did not know which of the two is responsible for inheritance. In 1928, Frederick Griffith discovered the phenomenon of transformation: dead bacteria could transfer genetic material to “transform“ other still-living bacteria. Sixteen years later, in 1944, the Avery–MacLeod–McCarty experiment identified DNA as the molecule responsible for transformation.[28] The role of the nucleus as the repository of genetic information in eukaryotes had been established by Hämmerling in 1943 in his work on the single celled alga Acetabularia. [29] The Hershey–Chase experiment in 1952 confirmed that DNA (rather than protein) is the genetic material of the viruses that infect bacteria, providing further evidence that DNA is the molecule responsible for inheritance.[30] James Watson and Francis Crick determined the structure of DNA in 1953, using the X-ray crystallography work of Rosalind Franklin and Maurice Wilkins that indicated DNA has a helical structure (i.e.,

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