What Conditions are Screened For in New York?
Amino Acid Disorders
Benign Hyperphenylalaninemia (H-PHE)
Citrullinemia, Type I (CIT)
Citrullinemia, Type II (CIT II)
Classic Phenylketonuria (PKU)
Maple Syrup Urine Disease (MSUD)
Tyrosinemia, Type I (TYR I)
Tyrosinemia, Type II (TYR II)
Tyrosinemia, Type III (TYR III)
Fatty Acid Oxidation Disorders
Organic Acid Conditions
About Newborn Screening in New York
The Newborn Screening Program in the Division of Genetic Disorders performs more than 11 million tests annually for more than 40 congenital conditions. The tests are conducted on the quarter of a million babies born each year in New York State.
Although most of the disorders are rare, they are usually serious. Some may be life threatening; others may slow down a baby's physical development or cause intellectual disability or other problems if left untreated. None of the disorders can be cured. However, serious side effects can be lessened, and often completely prevented, if a special diet or other medical intervention is started early.
The tests for all of these conditions are performed on one tiny sample of blood (Guthrie spot) obtained by pricking the baby's heel. The sample is usually taken the day of hospital discharge. The blood is collected and then dried on a special paper, which is sent to the Newborn Screening Program for testing. Test results are reported to physicians and specialty care centers. You may get the results by following instructions on the brochure or the pink copy of the form you were given at the hospital.
Your physician must have a current phone number or address by which to contact you after you and your family leave the hospital. If your doctor does contact you regarding your child’s results, respond and follow up as soon as possible. The quicker your baby begins treatment, the greater chance they’ll have at living a full, healthy life.
How is Newborn Screening Paid for in New York?
The mandated NBS is free for all families. All additional diagnostic testing is covered by your medical insurance, as is the case with any laboratory test.
Policies and Resources
All newborns must participate in newborn screening unless parents object on religious grounds. New York State Department of Health regulations require that the birthing facility, physician, or public health officer inform parents about the purpose and need for screening and provide them with educational materials. Parents are asked to attest via signature that they are turning down this public health program, and accept the possibility their child may become ill with one of these conditions.
Support for families:
One of the concerns some families may have when they find out their child has a condition detected through the newborn screening program is the increase in health care costs. New York has various laws and programs which have been put in place to make treatment of these conditions more affordable for families who are looking to provide the best care to their loved ones.
In New York, the Children with Special Health Care Needs Program seeks to improve the system of care for children with special health care needs (from birth to 21 years of age) and their families. The Program helps to shape public policy so families can get the best health care for their children. Children served by the CSHCN Program have an illness or condition for which they need extra health care and support services. These children might have a serious or long-lasting physical condition, such as those detected through the newborn screening process. New York State also supports programs in most counties in the state that help families of CSHCN by giving them information on health insurance and connecting them with health care providers. These programs will also work with families to help them meet the medical and non-medical needs of their children. To see what services are available in your New York county, please visit this county directory.
There are various medical services, such as Early Intervention, that can be reimbursed through Medicaid or private insurance. These include neonatal and congenital diagnostic investigation, treatment of problems associated with congenital disorders and newborns with problems and pediatric well care exams that continue until age 3. Your physician can also provide you with further guidance about possible health and financial support services available in New York.
If your child is covered by a private HMO in-plan and out-of-plan contract, these insurers must cover nutritional supplements to treat certain disorders. Normal deductibles and copayments may apply depending on the specific HMO.
Storage and Use of Dried Blood Spots:
After your newborn has been screened for conditions, some blood will remain on the card. The residual dried blood spot retention time in New York is 27 years. Storage is under secure conditions where access is strictly controlled. Specimens are not stored with information that directly identifies your baby. Should the need arise, the specimen(s) may be used for diagnostic purposes for your child with appropriate consent. A portion of the specimen will also be stripped of information that might identify your child and may be used in public health research that has been reviewed and approved by a Board charged with overseeing compliance with all applicable laws and ethical guidelines. Please call (518) 473-7552 for instructions to arrange to have your child's specimen destroyed or prevented from being used in public health research. According to state regulation, the department also must store newborn screening information in electronic format. The state laboratory must record requested diagnoses and case follow-up information and must maintain tracking records for diagnosed cases.