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Genetic Screening

PRENATAL TESTING OPTIONS FOR CHROMOSOMAL ABNORMALITIES

THE TEST

WHEN TO DO IT

WHO SHOULD TAKE IT

WHAT YOU’LL FIND OUT

WHAT TO EXPECT DURING THE TEST

THE RISKS

First Trimester Screen (Full Integrated Screening)

 

CPT Codes:
84163, 84702, 76813 (NT)

11 to 13 weeks 6 days

All pregnant women are offered this test

The screening assesses your baby’s risk for Down Syndrome (trisomy 21), trisomy 18, and trisomy 13- all chromosomal abnormalities-with 90% accuracy. It has a 5% false-positive risk.

1st step: An ultrasound that measures the nuchal fold (at Baby’s neck) and examines the nasal bone to identify Down Syndrome.

2nd step: Your blood is drawn and analyzed for plasma protein A (PAPP-A) and beta human chorionic gonadotropin (beta-HCG)

None

Cell- Free Fetal DNA Test

 

 

CPT Code:
81420

10 weeks onward

Women 35 and older or those at high risk for certain chromosomal abnormalities may take this instead of the First Trimester Screen. You can also take this if you had an abnormal 1st or 2nd trimester screening and want to avoid an invasive test

This blood test (also known as Non-Invasive Prenatal Diagnosis Testing) can detect Baby’s risk for chromosomal abnormalities such as trisomy 21 (Down Syndrome), trisomy 18 (Edward’s Syndrome), and trisomy 13 (Patau Syndrome) with up to 99% accuracy. You’ll also be able to find out the Baby’s gender.

The test is a simple blood draw that allows doctors to study the tiny fragments of Baby’s DNA floating in your blood stream. The hard part is waiting 8-10 days for results.

None

Chorionic Villus Sampling (CVS)

10 to 14 weeks

Women whose First-Trimester Screen revealed a potential problem, women who are 35 or older, or those who have a family history of a genetic disorder

This test will determine if your baby has a chromosomal abnormality or another genetic disorder. You’ll also be able to find out the Baby’s gender.

The doctor inserts a thin, hollow tube through the cervix or a needle into your abdomen to remove a sample of chorionic villi (hair like projections of the placenta containing fetal cells). The removal process takes about a minute.

There is a 1% risk of Miscarriage

Second Trimester Screen (Quad Marker Screen)

 

CPT Codes:
82105, 82677, 84702, 86336

15 to 20 weeks

Women who decided to do the Full Integrated Screening. Women who didn’t take the First Trimester Screen; those who are at risk for chromosomal abnormalities, and those who had an abnormal anatomy ultrasound.

This test reveals your baby’s risk of having a chromosomal abnormality or a neural-tube defect such as spina bifida. The screen correctly identifies about 80% of women carrying a baby with Down Syndrome, but it turns up false positives in 6 to 7% of cases.

Your blood is drawn and analyzed for levels of four substances: maternal serum alpha-fetoprotein (MSAFP), human chorionic gonadotropin (hCG), estriol, and Inhibin A.

None

Amniocentesis

Any time after 15 weeks

Women whose previous screening test revealed a potential problem. Women who are 35 or older, and/or those who are at increased risk for certain conditions.

Like CVS, this diagnostic test will show whether your baby has a chromosomal issue, and can also be used to test for a gene disorder, such as cystic fibrosis. Once you know your baby’s results, you’ll also know the gender.

The doctor inserts a thin, hollow needle into your abdomen to remove some amniotic fluid, which contains cells with Baby’s chromosomes and DNA. You may feel pinching or stinging and some cramps.

There is a 0.5% risk of miscarriage as well as a small risk for rupture of membranes

NOTE: All testing is optional, for cost and insurance coverage please contact your insurance carrier.

CARRIER SCREENING IN PREGNANCY FOR COMMON GENETIC DISEASES

Everyone has a risk to have a baby with problems. There are a few common disorders that can occur even without a family history and can be tested for today. You can have one simple blood test to determine if you carry the gene (DNA change) that causes the disorders shown below.

What is a carrier?

A carrier is a person who has a gene that increases the risk to have children with a genetic disease. People do not know if they are carriers until they have a blood test or an affected child. Some disorders occur only if both parents are carriers and other disorders occur only when the mother is a carrier.

What is carrier screening?

Carrier screening involves a blood test from one or both parents to determine if they carry a specific gene that increases the risk that their baby is affected. If you turn out to be at risk, prenatal testing such as amniocentesis or chronic villus sampling (CVS) is available to determine if your unborn baby is affected. All testing is optional and you can choose which disorder(s) to be tested for.

DISEASE

Cystic Fibrosis (CF)

Spinal Muscular Atrophy (SMA)

Fragile X Syndrome

 

 

 

 

Symptoms of Disease

Most common inherited disease in North America.
A chronic disorder that primarily involves the respiratory, digestive and reproductive systems. Symptoms include pneumonia, diarrhea, poor growth and infertility. Some people are only mildly affected, but individuals with severe disease may die in childhood. With treatments today, people with CF can live into their 20 and 30’s. CF does not affect intelligence.

 

 

CPT Code: 81220

Most common cause of inherited infant death.
SMA destroys nerve cells hat effect voluntary movement. Infants with SMA have problems breathing, swallowing, controlling their head or neck, and crawling or walking. The most common for of SMA affects infants in the first months of life and can cause death between 2-4 years of age. Less commonly the disease starts later and people can survive into adulthood. SMA does not affect intelligence. There is no cure or treatment.

 

 

 

CPT Code: 81401

Most common inherited cause of mental retardation.
Fragile X syndrome is a disorder that causes mental retardation, autism, and hyperactivity. It affects primarily boys. Women who are carriers are at risk to have a child with mental retardation.

 

 

 

 

 

CPT Code: 81243

 

Inheritance

If both parents are carriers, there is a 1 in 4 (25%) chance to have a child with cystic fibrosis

If both parents are carriers, there is a 1 in 4 (25%) chance to have a child with SMA

If a mother is a carrier, there is up to 50% chance to have a child affected with fragile X syndrome.

 

Carrier Frequency

1 in 25 Caucasians
1 in 46 Hispanics
1 in 65 African Americans
1 in 90 Asian Americans

1 in 41
Occurs in all ethnic backgrounds

1 in 260 females
Occurs in all ethnic backgrounds