Medical genetics testing to support the most informed decisions

At Maimonides Children’s Hospital, we believe that knowledge of genetics empowers pediatricians, patients, and parents to make informed decisions. According to the Centers for Disease Control and Prevention (CDC), an estimated 3% of all pregnancies result in a child with a birth defect, intellectual disability, or genetic disease. Although many of these irregularities are noticeable at birth, some only become evident later in childhood or even in adulthood.

We offer expert prenatal testing and comprehensive genetic screening, diagnosis, and counseling services for children and adults. Our outstanding team of board-certified professionals specialize in clinical and molecular genetics as well as genetic counseling. This team follows a multidisciplinary approach to care and works closely with specialists from pediatrics and obstetrics. When evaluating children, we deliver care that is child-friendly in an environment created just for them.

Conditions we treat

• Autism spectrum disorders
• Birth defects and malformations
• Complex conditions with no identified cause
• Developmental delays
• Genetic conditions
• Intellectual disability syndromes

If your child has a medical or learning disorder, or you’re pregnant and concerned about the possibility of having a child with a medical condition, or you belong to an ethnic group that is known to have a higher incidence of a certain genetic disease, our medical genetics specialists are here for you

Genetic evaluations and counseling

A typical genetic evaluation or counseling session starts by meeting with a counselor to discuss the reason for referral, the patient’s concerns, and any relevant family and medical history. A medical geneticist then performs an examination to determine the possible diagnosis and recommended tests and referrals. The evaluation and diagnosis will also include prognosis and other discussions about heredity and reproductive options.

Those who can benefit from a genetic evaluation at Maimonides are:

• Children or adults with birth defects such as cleft lip/cleft palate, congenital heart defects, or other physical malformations
• Individuals with known or suspected genetic conditions, like muscular dystrophy, sickle-cell anemia, or Down syndrome
• Individuals with an unexplained intellectual disability, developmental delay, or growth problems

In many cases, blood tests can assess the risk of certain conditions. Medical procedures may be recommended during pregnancy, since prenatal diagnosis may provide important information.

Those who can benefit from our genetic counseling are:

• Individuals in ethnic groups that have a higher risk of certain genetic diseases, like Tay-Sachs disease, sickle cell anemia, thalassemia, and cystic fibrosis
• Individuals with medical conditions such as diabetes, seizure disorders, or lupus
• Pregnant women with abnormal screening tests or ultrasound results
• Women who are pregnant or planning a pregnancy while in their mid-30s or older
• Women who have been exposed to certain drugs or medications during pregnancy

Every effort is made to send tests to a laboratory that participates in your medical insurance plan. Any necessary exceptions will be discussed with you prior to ordering the test. All records and diagnostic results are kept in the strictest confidence by the Division of Medical Genetics. You or your child’s records will not be released or discussed with anyone without your consent.

Call (718) 283-7500 to make an appointment with Maimonides Children’s Hospital