Question

After your explanation, the woman understands that the prognosis of monosomy X isn’t that bad and she feels better about her unborn daughter. The woman states that she now wants to know more. She asks what other tests are available to check for other diseases.

Explain the other prenatal testing, besides the amniocentesis, which was already performed. Explain the purpose behind the types of newborn screening tests that are performed in NY and other states.

Answer 1

Amniocentesis is a prenatal test. It involves inserting a needle through your belly to remove some amniotic fluid from your uterus. The fluid contains cells from your baby. Doctors test the cells to see if your baby has genetic disorders, chromosomal abnormalities, infections, or birth defects. Because there are risks with amniocentesis, many women look for alternatives. Noninvasive tests may be helpful in some cases.

Amniocentesis is an invasive test. Invasive tests require entering your body to obtain a sample of your cells. Noninvasive tests, such as urine tests, do not require entering your body to gather samples. Amniocentesis and other invasive tests can carry slightly higher risks of complications—such as infection and bleeding—than noninvasive tests.

Noninvasive prenatal tests involve withdrawing blood from the mother’s arm one or more times during different pregnancy trimesters. Even though a needle goes into the arm to withdraw blood, a blood test is considered a noninvasive test. A laboratory tests the blood for information about the baby. The information can come from proteins, hormones, and placenta substances. Noninvasive prenatal tests can also involve an ultrasound of the baby.

There are several noninvasive prenatal tests. They involve one or more tests of the mother’s blood, an ultrasound of the fetus through the mother’s belly, or combinations of the two.

Purpose behind the types of newborn screening tests that are performed in NY:

Newborn screening refers to medical tests, the majority of which are genetic, performed to identify babies with certain disorders, which without intervention, may permanently impact newborns and their families. Early recognition and treatment of most of these disorders leads to a better outcome for the newborn. The Newborn Screening Program’s goal is to help affected babies live as long and normal of a life as possible.

The Newborn Screening Program effectively identifies babies with certain disorders and is required for all newborns born in New York State unless the parents confirm, in writing, that they have a religious objection.

Quick Facts about Newborn Screening:

• A small blood sample is collected by pricking your newborn’s heel usually 1-2 days after birth.

• The blood is used to screen for 50 different disorders.

• There is no charge to you for this service.

• Most newborns will not have one of these disorders.

• Newborns with one of these disorders may look healthy at birth, which is why the testing must be performed to find those with a disorder. The earlier treatment is started, the better the outcome is for your newborn.

• Screening is designed to identify all newborns with the potential for one of these disorders. Further testing is then required to verify whether or not your newborn has the disorder.