Welcome to the Division of Clinical Genetics

Message from the Chief

The Section of Perinatal Genetics is a comprehensive service focusing on the evaluation, diagnosis, management, and treatment of birth defects, chromosome abnormalities, hereditary disorders and metabolic conditions before and during pregnancy. The Division of Medical Genetics in the Department of Obstetrics, Gynecology and Reproductive Sciences provides services to infants, children and adults with genetic concerns.

The section is professionally staffed with a medical geneticist and Master-level trained board certified/board eligible genetic counselors. As a part of the Division of Maternal Fetal Medicine close collaboration exists with high-risk obstetricians and antepartum testing ensuring coordinated care. Collaborative efforts between Genetics, Maternal-Fetal Medicine, Neonatology, Pediatric specialists as well as primary care providers improve pregnancy management and neonatal outcomes by permitting earlier diagnosis and therapeutic intervention for a variety of fetal birth defects and genetic disorders.

Genetic counseling is available to educate patients about risks to their pregnancy due to age, screening results, family history, ultrasound findings and other concerns. In addition to defining risks, genetic counselors will explain the diagnostic testing and screening options available to ensure the best pregnancy outcome.

A typical genetic counseling appointment lasts approximately 60 minutes. Many patients will bring their partner or another support person to the session. The genetic counselor will draw and analyze the family tree and ask questions regarding the patient’s and partner’s family history. The medical and pregnancy history of each member of the couple will be reviewed, including the outcomes of all previous pregnancies and exposures or medications during the current pregnancy. The genetic counselor will review prenatal test results, including blood work, ultrasound examinations, and diagnostic test results and explain in detail if any concerns were identified. She will analyze this information to help assess your risk of having a child with a birth defect, mental retardation, genetic disease, or a chromosome abnormality. All of the available prenatal screening and diagnostic testing options will be reviewed in detail using diagrams and other visual aids. The genetic counselor will also address any questions that you may have. They will help coordinate any additional recommended testing with the appropriate laboratories and physicians. A letter will be sent to your referring physician summarizing the genetic counseling session and any recommendations for your care. Most patients who undergo genetic counseling are reassured about their baby’s health and are better enabled to make decisions because of the information provided.

Genetic counseling can be provided in the following Native languages: English, Spanish, Italian, Hebrew and Russian. For all other languages, interpreter services are available.

Indications for Referral

Aneuploidy screening: Given the wide range of options available to patients including first trimester screening, maternal serum Quad screening, genetic sonogram, chorionic villus sampling and amniocentesis, patients struggle to navigate through this maze of options. Whether considered high risk because of maternal age or just interested in early diagnosis, patients are often confused about their options. By referring patients at 8-10 weeks of gestation, we can educate them regarding the benefits, risks and limitations of testing options and help patients devise a screening/testing strategy that best suits them.

Abnormal prenatal test or screen: Patients who have an abnormal first trimester screen, increased nuchal translucency, abnormal Quad screen, or abnormal ultrasound finding can be referred for an explanation of the finding(s) and discussion regarding further fetal evaluation. Patients who have an abnormal amniocentesis or CVS result may also be referred for a detailed discussion regarding the clinical features of the condition and review of their options regarding pregnancy management.

Previously affected child: Couples who have had a child affected by a genetic condition, mental retardation, or birth defect and are concerned regarding the risk of recurrence for future children would benefit from referral.

Consanguinity: Couples who are related by blood, such as first or second cousins, can be referred for family history evaluation and discussion regarding the risk for recessively inherited conditions given their consanguinity. Appropriate pregnancy and newborn screening is recommended.

Pregnancy exposures: Patients who are concerned regarding a medication, x-ray exposure, alcohol, illicit drug exposure or occupational exposure can be referred to assess the potential risk to the developing fetus.

Recurrent Pregnancy loss, infertility, previous stillbirth: These patients can be referred for assessment to determine if a genetic or chromosomal cause is contributing to their adverse reproductive history.

Family or personal history of a genetic disorder or birth defect: These patients are referred because they are concerned regarding the risk to themselves or their offspring to have a specific genetic condition that is present in another family member.

Carrier testing based on a specific ethnicity: For example, couples of Jewish ancestry currently have a total of eleven conditions available to them for carrier testing. We are available to coordinate this testing for the patient and her partner, when indicated.

Indications for an evaluation with a Medical Geneticist

  • Abnormal newborn screening results
  • Features that suggest a possible syndrome
  • Child with one or more major malformations in any organ system
  • Birth defects (cleft lip or palates, heart defect, spina bifida)
  • Presence of a known or suspected metabolic disorders: neonatal deaths, failure to thrive, organomegaly, loss of developmental milestones
  • Child with unusual appearance, especially accompanied by failure to thrive or sub-optimal psychomotor development
  • Mental retardation, developmental delays, autism
  • Prenatal exposure to alcohol, medications, chemicals, drugs, infections
  • Abnormalities in growth - short stature/size
  • Primary amenorrhea or abnormal sexual development
  • Blindness or deafness
  • Mitochondrial disorders
  • Neurologic or muscular disorders
  • Skeletal abnormalities
  • Neurodegenerative disorders
  • Abnormalities of the hair or skin
  • Immune deficiencies
  • Development of a degenerative disease