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Division of Medical Genetics

Overview

The Division of Pediatric Medical Genetics provides clinical evaluation for genetic disorders, comprehensive genetic counseling, and risk assessment for patients and their families. Pediatric through adult diagnostic evaluations are carried out by a team consisting of a board-certified genetic counselor, an advanced practice nurse, and a board-certified medical geneticist.

Clinical Care Services

The division staff works with the Division of Maternal-Fetal Medicine to provide prenatal genetic evaluation and counseling services. Using a multi-disciplinary approach, we provide high-quality, comprehensive diagnostic treatment and laboratory services to patients and families with or at risk for genetic problems and/or birth defects.

We offer continuing care for patients with genetic and inborn metabolic conditions, coordinate their multidisciplinary care, and help them access resources related to their condition. Patients are generally referred by their primary care physician or another specialist but self-referral is appropriate.

A doctor uses a doppler on a pregnant patient to listen to a fetal heartbeat
    • Birth defects 
    • Cardiomyopathies 
    • Chromosomal disorders (eg. Down, Klinefelter, Turner syndromes) 
    • Congenital heart disease 
    • Connective tissue disorders (eg. Ehlers Danlos, Marfan) 
    • Craniofacial disorders 
    • Cystic fibrosis 
    • Delay in growth or development 
    • DiGeorge syndrome 
    • Dysmorphology 
    • Family history of a genetic disorder 
    • Fragile X 
    • Hearing loss 
    • Hemoglobinopathies 
    • Inborn errors of metabolism 
    • Inherited arrhythmias and long QT syndrome 
    • Inherited liver disorders 
    • Inherited skin (dermatological) disorders 
    • Mitochondrial disorders 
    • Muscular dystrophy 
    • Neurofibromatosis 
    • Osteogenesis imperfecta 
    • Seizures 
    • Skeletal dysplasia 
    • Spinal muscular atrophy 
    • Tuberous sclerosis

  • The Clinical Genetics Program is a comprehensive and caring resource for patients of all ages with birth defects, chromosome abnormalities, and genetic conditions. Services are coordinated with a complete range of specialists from Rutgers Health. Specialized genetic laboratory testing is arranged as necessary.

    The program provides recommendations for medical care with ongoing long-term follow-up, referral to appropriate community resources, evaluation of other family members at risk, and coordination with the primary physician for optimal patient management.

  • The program works with the New Jersey Department of Health and Human Services to provide follow-up assessment and testing of newborns suspected to have an inborn error of metabolism. Evaluation and ongoing treatment are available for infants and children with some inherited metabolic diseases. Genetic counseling is available for families to understand their risks and options for future pregnancies.

  • We offer the following Special Services for families in need of assistance:

    • Prenatal and Pediatric diagnosis and management of inborn errors of metabolism
    • Evaluation and counseling for couples considering pregnancy who have a personal or family history that puts them at risk for having a child with an inherited metabolic disorder
    • Evaluation and counseling for couples who are pregnant and are at risk for having a child with an inherited metabolic disorder

Education

The Division of Medical Genetics provides clinical genetic rotations for pediatric and obstetric residents and medical school electives for 3rd and 4th-year students. Additional didactic activities include pediatric noon conferences and lectures on a variety of genetic topics for medical students, residents, and fellows. Division staff has mentored pediatric residents with their case conference presentations.

In addition, the division holds a weekly multidisciplinary genetic case conference and coordinates a monthly genetic maternal-fetal medicine conference. Division staff participates in the Robert Wood Johnson Medical School basic science cellular and genetic mechanisms course. A genetic lecture series was developed for the Neonatal-Perinatal Medicine Fellowship.

The division participates in a joint genetic fellowship program with the New Jersey Medical School. Susan Sklower Brooks, MD is the site director. A multidisciplinary faculty including Hana Aviv, PhD and Amrit Sahotra, PhD from Pathology, Jay Tischfield, PhD from Pediatrics and Rutgers University Department of Genetics, and Deborah Toppmeyer, MD from the Cancer Institute of New Jersey.

Students stand and talk in a group in the research tower

Contact Us

Child Health Institute of New Jersey
89 French Street
New Brunswick, NJ 08901
Phone: 732-235-9386
Fax: 551-310-6798