Pregnancy Screenings and Tests
The California Prenatal Screening (PNS) Program offers all pregnant people free blood tests to screen for certain birth defects of the growing baby for those with Medi-cal or private insurance. If it is not covered by your insurance, as of 2022, screenings provided by the PNS Program are $232 for cell-free DNA (cfDNA) screening and $85 for maternal serum alpha-fetoprotein (MSAFP) screening, which do not include blood draw charges or any other medical services after diagnostic testing. Make sure to call and check for pricing so you are not shocked if the prices have changed. In my personal experience with my second daughter born in 2022, it would have cost $500 with all of the additional charges through my local birth center in Santa Rosa, CA (they are out of business now).
The difference between Screenings and Tests
Screening tests are not invasive blood tests from the mother and show the parent(s) what the likelihood of having a health condition is, meaning it is an estimate and may lead to more invasive testing if the screening comes back abnormal.
Diagnostic testing is accurate yet invasive to the developing baby and may result in a miscarriage.However, the parent(s) can use results from the screening test to decide if the risk of a miscarriage is worth knowing if the baby has a health condition for sure. Parent(s) who would not medically terminate the pregnancy regardless of the diagnostic testing may want to refrain from continuing with a diagnostic test in the event a miscarriage occurs from testing. However, a diagnostic test can help the parent(s) learn about the baby’s condition and be equipped and knowledgeable at birth on what to expect and/or how things may be different caring for the baby, including any medical care that may be required after birth.
1. Cell-free DNA (cfDNA) screening test is best done from 10 weeks to the first day of 21 weeks of pregnancy. The cfDNA screening can be done after 20 weeks but the follow-up services are then more limited. Results are available in 10 to 14 days but are not 100% accurate. . Most common conditions:
Trisomy 21 (Down syndrome): baby has an extra copy of chromosome 21, which changes how the baby’s body and brain develop, causing mental and physical challenges, including low range IQ and slower motor functions. Women of any age may have babies with Down syndrome, but the risks do get greater as the mother gets older. This test has a greater chance of being accurate than other health conditions.
Trisomy 18 (Edwards syndrome): baby has an extra copy of chromosome 18, typically females. This extra chromosome affects the baby’s body and brain development, including structural birth defects, physical features, and developmental disabilities. These abnormalities are formed at conception and are often lost through miscarriage. Women of any age may have babies with Trisomy 13, but the risks do increase as the mother ages. This test has a lower chance of being accurate than detecting Trisomy 21.
Trisomy 13 (Patau syndrome): baby has an extra copy of chromosome 13, typically females. This extra chromosome affects the baby’s body and brain development, including structural birth defects, physical features, and developmental disabilities. These abnormalities are formed at conception and are often lost through miscarriage. Women of any age may have babies with Trisomy 13, but the risks do increase as the mother ages. This test has a lower chance of being accurate than detecting Trisomy 21.
2. Maternal serum alpha-fetoprotein (MSAFP) can be done from 15 weeks to the first day of 21 weeks of pregnancy to check for the risk of neural tube defects and birth disorders, it is not a diagnostic test. This test checks the birthers blood for the level of alpha-fetoprotein (AFP), a protein that naturally occurs in the developing baby. A higher or lower than normal result may indicate genetic disorders or birth defects. Results are available in 7 to 10 days. The most common are:
Neural tube defects: Eat foods rich in folate every day, along with a balanced and varied diet to help prevent NTD. The two most common:
Spina bifida: opening in the spine, causing paralysis of the baby’s legs, may cause loss of bowel and bladder control, and intellectual disabilities. Severity depends on the size and location of the opening, and whether part of the spinal cord and nerves are affected. Estimated 1 in every 2,758 babies born in the US. May be diagnosed during pregnancy with screening tests or after the baby is born.
AFP: blood tests that measure how much alpha-fetoprotein has passed from baby to mother looking for higher than normal levels of AFP.
Ultrasound: using pictures of the baby to look for signs.
Amniocentesis: small sample of amniotic fluid looking for higher than normal levels of AFP. Invasive to the baby, and may result in miscarriage.
Anencephaly: most of the brain does not develop and often are not covered by bone or skin, causing death to the baby either in utero or shortly after birth. Estimated 1 in every 4,600 babies born in the US.
blood or serum screening, may be seen during an ultrasound, and some cases may not be diagnosed until after the baby is born.
Additional tests or screenings
First Trimester (1st, 2nd, and 3rd months of pregnancy)
Blood tests check for certain infections (like syphilis, hepatitis B, HIV), to know the birthers blood type and Rhesus (Rh) factor and if anemia is present.
Carrier screening for genetic conditions: checks blood or saliva for birther and/or partner’s genetics that may be passed down to offspring. If both the birther and partner are a carrier for the same condition, it is more likely to be passed down.
Chorionic villus sampling (CVS): diagnostic test done between 10 and 13 weeks that checks tissue from the placenta for genetic conditions. Is an option as a next step if the first-trimester screening estimates an increased risk for birth defects, the birther is over 35, or there is a family history of genetic conditions.
First-trimester ultrasound: a Sonographer uses imaging (high frequency, ultrasonic waves) through a wand placed on the abdomen (over uterus) with aloe vera gel and a computer screen to show real-time movement and imaging of the growing baby and their body parts.
Can confirm the baby’s due date by being able to measure the baby's growth.
Some birthers choose not to have an ultrasound because it may add to their stress about proceeding with invasive procedures or they do not want any high frequency waves going through the baby, although it has been used for 30 years and has not been found to cause any harm to baby or mother at this point in time.
Second Trimester (4th, 5th, and 6th months of pregnancy)
Blood pressure checks: check for preeclampsia after the 20th week of pregnancy.
Urine test checks for infections and preeclampsia.
Quad Screen: tests for genetic conditions and measures 4 substances in your blood: alpha-fetoprotein (AFP), estriol, human chorionic gonadotropin (hCG) and inhibin A. The test is done at 15 and 22 weeks of pregnancy.
Ultrasound: to confirm normal anatomy and the sex of the baby between 18 and 22 weeks of pregnancy
Amniocentesis: invasive diagnostic testing using a sample of amniotic fluid testing for genetic and birth defects. The test is done at 15 to 20 weeks of pregnancy.
Glucose screening: between 24 and 28 weeks of pregnancy, this screening checks if the birther has gestational diabetes by drinking an 8 oz syrupy drink of 50g of sugar (glucose) within 5 minutes while fasting for at least 8 hours and a phlebotomist draws a blood sample after one hour.
If your blood glucose levels reach over 140 mg/dL. The test can often have a false positive, leading birthers to conduct a longer glucose screening of several hours and 3 blood draws and you must stay at the testing facility until complete.
If the blood glucose levels are over 190 mg/dL after the 1-hour test, the birther is diagnosed with gestational diabetes and a strict diet and lifestyle protocol to follow.
Birthers may choose not to take the test, or can consume the same amount of glucose from straight orange juice, drink from the Fresh Test, or by performing glucose monitoring after every meal for 3-7 days. Traditional glucose drinks were invented in the 1960s, and still use the same ingredients with BVO, artificial dyes, artificial flavoring, BHA, sodium benzoates, and ingredients that are banned in Europe. You can ask for the clear Glucola drink so it won't have the food dyes but will still contain everything else.
You have the right to refuse traditional testing or opt for alternative testing if you want.
Third Trimester (7th, 8th, 9th month of pregnancy)
Group B strep (GBS): between 35 to 38 weeks of pregnancy, a swab from the vagina to the rectum to collect the naturally occurring bacterial culture. If negative at the time of swabbing, the birther may still become positive during labor, and vice-versa. If positive, typically Penicillin IV antibiotics will be administered during labor to lessen the risk of transfer to the newborn.
Signs and symptoms in a newborn include a fever, feeding issues, breathing issues, irritability, inactivity or limpness, unstable body temperature and can lead to pneumonia, sepsis, and meningitis.
Most healthy, full-term babies are safely vaginally born to GBS-positive mothers and will not develop any issues while preterm babies (born prior to 37 weeks) are more likely to be impacted by BGS.
In total, less than 1% of babies diagnosed with GBS will survive with long-term physical or mental disabilities and less than 1% die from infection.
Kick counts: an easy at-home way to track your baby’s movement in the second half of pregnancy (20 weeks). This can be helpful if you are worried your baby isn’t moving or you notice a decrease in movement and can be seen by your provider right away.
Time how long it takes baby to move 10 times.
In 1 hour, count how many movements you feel.
Resources
Youtube on Prenatal Screening from the California Dep. of Public Health
The Fresh Test - Organic glucose test with no unnecessary additives
References
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