Welcome to the Division of Perinatal Genetics

Message from the Director

 

The Section of Perinatal Genetics is a comprehensive clinical service that focuses on the evaluation, diagnosis, management, and treatment of defects before birth. These may involve chromosomal abnormalities, hereditary disorders, and metabolic conditions before and during pregnancy, as well as structural anatomical defects during pregnancy. The Section of Perinatal Genetics is part of the Division of Maternal-Fetal Medicine in the Department of Obstetrics, Gynecology and Reproductive Sciences.

The Section is professionally staffed with Master-level trained and board certified (or board eligible) genetic counselors. As a part of the Division of Maternal-Fetal Medicine, close collaboration exists with high-risk obstetricians and antepartum testing to ensure coordinated care. Collaborative efforts amongst geneticists, maternal-fetal medicine, neonatology, and 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 defects and genetic disorders.

Genetic counseling is a process of educating patients about risks to their pregnancy due to age, screening results, ultrasound findings, family history, 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 30-60 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. They will analyze this information to help assess the risk of having a child with a birth defect, intellectual disability, genetic disease, or a chromosome abnormality.

All the available prenatal screening and diagnostic testing options will be reviewed in detail using diagrams and other visual aids, and questions are encouraged. They will help coordinate any additional recommended testing with the appropriate laboratories and physicians. A letter will be sent to the referring physician summarizing the genetic counseling session and any recommendations for care.

Most patients who undergo genetic counseling are reassured about their baby’s health.

Communication regarding genetic counseling services are available in English, Russian, Mandarin, Gujarati, and Hindi. For all other languages, interpreter services are available.

 

Indications for Referral

Common Reasons for Referral during pregnancy include:

  • Maternal Age

As women get older, they have an increased risk for a pregnancy with a chromosome problem. Typically, women 35 and older seek genetic counseling to learn about the different blood tests, ultrasounds, and diagnostic testing such as chorionic villus sampling and amniocentesis. Genetic counselors can help women, of any age, determine a plan for testing that is right for them.

  • Paternal Age

The father’s age is important as well. As men age, they have an increased risk for a child with certain birth defects, chromosome problems, genetic conditions, and autism. Genetic counselors can educate individuals about these risks and determine a plan for testing during the pregnancy.

  • Screening for chromosome problems during the pregnancy

Regardless of the age of the parents, all women have a range of testing options available during their pregnancy to check for fetal chromosome problems. These include first trimester screening, cell-free DNA (NIPS), level II anatomy ultrasound, chorionic villus sampling, and amniocentesis. Genetic counseling can help clarify a testing strategy for patients that aligns with their desired outcomes, whether considered high risk because of maternal age, or just interested in prenatal testing.

  • Abnormal screening results or ultrasound findings

Patients who have an abnormal first trimester screen, increased nuchal translucency, abnormal NIPS result, 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 CVS or amniocentesis result may also be referred for a detailed discussion regarding the clinical features of the condition and review their options for pregnancy management.

  • Previously affected child

Couples who have had a child affected by a genetic condition, intellectual disability, autism, or birth defect and are concerned regarding the risk of recurrence for future children would benefit from genetic counseling.

  • Consanguinity

Couples who are related by blood, such as first or second cousins, can be referred for family history evaluation and discussion regarding the risks to their unborn child. Blood tests for the couple can be arranged to determine their risk and additional testing during pregnancy and after birth may be arranged.

  • 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.

  • Family or personal history of a genetic disorder or birth defect

Individuals who have a personal history or family history of birth defects or genetic conditions seek genetic counseling to understand if the condition can affect their unborn child.  Often blood tests can be arranged to determine if a future child is at risk and a plan can be made for reducing the risk of having an affected child.

  • Specialized Services

 

We offer several specialized services in addition to our common indications for referral.

  • Recurrent Pregnancy Loss Evaluation Service

Patients who have a history of recurrent miscarriage, infertility, or stillbirth can be referred for assessment to determine if a genetic or chromosomal cause is contributing to their adverse reproductive history.

  • Pre-pregnancy genetic counseling

For couples who are planning a pregnancy, genetic counseling is important to review their family history and arrange blood work to determine if they may be at risk for a child with a genetic disorder. Identifying at risk couples before pregnancy is crucial because they would have the option of in vitro fertilization and transferring embryos that are free of that disease.

  • Direct to Consumer Test Counseling Service

In the age of Direct-to-Consumer Testing such as 23andMe, we can work with patients to help them understand their results and arrange confirmatory testing through a medical lab, when confirmation is necessary for medical management.

  • Family History of Cancer Counseling Service

When a patient has a family history of cancer, genetic counseling is available to help understand their risk and the option of genetic testing for genes associated with familial cancers.

  • Paternity Testing during Pregnancy

If you are concerned or need confirmation during pregnancy about the paternity of your fetus, we are available to arrange testing (blood test or diagnostic testing such as CVS or amniocentesis) to confirm the paternity of your fetus. An appointment with our genetic counselors will help you understand your options, cost, and timing of the testing.