Pediatric Genetics

Discoveries in genetic science are causing important changes in medicine. As more is uncovered about the genetic basis for many diseases, genetic diagnosis and counseling become increasingly important for families. Genetic testing can now be performed for over 1000 disorders, including hemophilia, cystic fibrosis, sickle cell anemia and Tay-Sachs disease. Genetic evaluation and testing can help to make a definitive diagnosis in a child as well as predict the risk of recurrence for future children and/ or other family members. Genetic testing and counseling are available for individuals and families with a history of an inherited disease; if the mother is older and therefore at greater risk of having a baby with chromosomal problems; as well as for women who have been exposed to radiation or certain chemicals that may put their fetus at risk for abnormalities. We offer programs in early prenatal diagnosis, pre-implantation genetic diagnosis, and assisted reproductive technology to give couples multiple options for having healthy children. When therapy is indicated for a fetus, we can manage the condition medically or treat the fetus in utero using minimally invasive procedures in conjunction with the prenatal pediatric center.

Clinical Genetics

The Division of Clinical Genetics provides clinical evaluation and risk assessment, genetic counseling and genetic testing for a variety of genetic conditions. The Division works seamlessly with obstetricians, maternal fetal subspecialists and perinatologists to provide services for families who are concerned about their genetic status, particularly if they are contemplating a pregnancy. For patients planning their families, we provide reproductive options for having healthy children including prenatal diagnosis and pre-implantation genetic diagnosis. 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 also offer ongoing care for patients with genetic conditions, coordinate their multidisciplinary care, and help them access resources related to their condition. We treat genetic conditions with bone marrow, liver, or cardiac transplant, enzyme replacement therapy,and diet modification for certain metabolic disorders. Staff members of the Clinical Genetics programs serve as the clinical coordinators for children with rare genetic disorders that require multiple subspecialists. When appropriate, we identify research studies for which patients may qualify to understand their condition better or provide additional therapeutic options. We have specialized programs in several areas listed below.

Prenatal genetics

• Carrier screening for common genetic conditions such as sickle cell disease, Tay Sachs disease, and cystic fibrosis
• Pre-conception counseling
• Prenatal diagnosis of genetic conditions
• Chorionic villus sampling
• Amniocentesis
• Counseling for complex fetal chromosomal abnormalities
• Prenatal pediatric care coordination for fetuses with birth defects or known genetic conditions
• Pre-implantation genetic diagnostic program for genetic conditions

Pediatric genetics

• Dysmorphology
• Birth defects
• Growth problems
• Delay in development
• Chromosomal disorders (Down syndrome, Klinefelter syndrome, Turner syndrome)
• Cystic fibrosis
• Sickle cell diseases and thalassemias
• Craniofacial disorders
• Marfan syndrome
• Skeletal Dysplasiase
• Ehlers Danlos Syndromes
• Neurofibromatosis
• Tuberous sclerosis
• Di George syndrome
• Fragile X
• Osteogenesis imperfecta
• Inherited skin (dermatological) disorders
• Inherited liver disorders
• Endocrine genetics, including specialized programs in diabetes and obesity
• Metabolic disorders / inborn errors of metabolism
• Muscular dystrophy
• Mitochondrial disorders
• Spinal muscular atrophy
• Seizures
• Deafness
• Cardiomyopathies
• Congenital heart disease
• Inherited arrhythmias and long QT syndrome
• Cancer Genetics
• Birth Defects

Contact

Division of Medical Genetics 505 East 70th Street
Helmsley Tower, 3rd Floor
New York, NY 10021

For information or to schedule an appointment, call: (646) 962-2205

Click here to visit our Medical Genetics web page

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