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Genetic counseling
-Would visit before pregnancy if you know you have an increased chance of having a child with a birth defect or genetic condition
-Can visit during pregnancy if diagnosis has occurred to learn more
-Run bloodwork to look at family genetics and determine risk -
Ultrasound
-First trimester ultrasound (6–9 weeks)
Internal ultrasound
Check for implantation location
Size and position will be measured to determine gestational age.
Not required
-Second trimester ultrasound (18–22 weeks)
Measure fetal anatomy and heart rates
Might show developmental concerns that require additional testing
Gender of baby
-3D and 4D ultrasounds
Not covered by insurance
Show more realistic detail of baby
Done between 24 and 32 weeks pregnancy -
Glucose screening
-Measures the level of glucose in mom’s blood, by requiring her to fast and drink a special sugar mixture and have blood drawn an hour later
-Done between 24 and 28 weeks of pregnancy unless risk factors indicate it needs to be done earlier
-High blood sugar level may be a sign of gestational diabetes -
Prenatal cell-free DNA (cfDNA)
-Noninvasive screening to check for certain chromosomal abnormalities
Down syndrome
Trisomy 18
Trisomy 13
Trisomy 21
-DNA collected through maternal blood sample
-At least 10 weeks pregnant
-Not diagnostic; if test comes back positive, additional diagnostic testing required
-Can have false positive test results and no abnormalities
-Can tell gender with 99.7% accuracy -
Maternal serum alpha-fetoprotein (MSAFP)
-Examines levels of alpha-fetoprotein in mom’s blood
-Done between 14 and 22 weeks pregnancy
-Recommended for women
Have family history of birth defects
Women over 35 years old
Women who used possible harmful medications or drugs during pregnancy
Women who have diabetes
-Test measures levels of alpha-fetoprotein and combines results with mom’s age and ethnicity to give probability of potential genetic disorder -
Amniocentesis
-Testing of amniotic fluid, which contains cells shed by fetus
Genetic disorders
Open neural tube defects
Inherited gene defects
Metabolic disorders
Lung maturity
-Done between 15–20 weeks of pregnancy
The mother is over 35 years old
Family history or previous child with genetic disorder
Risk of open neural tube defects
If a prenatal screening shows abnormal results
Risk of sex-linked genetic disorder
-Complications may include cramping, bleeding, infection, and miscarriage. -
Group B strep
-Common bacteria that live in the body
-In women, found in vagina, which can cause problems if passed to baby during delivery
-Done between 36 and 38 weeks pregnant
-Swab sample taken from vagina and rectum
-If positive, the mother is given an antibiotic through an IV once labor has started -
Chorionic villus sampling
-Testing of the chorionic villus
Chromosomal conditions
Genetic disorders
-Done as early as 10 weeks of pregnancy but usually during 11–14 weeks pregnancy
Consider if there were positive results from a prenatal screening test
Prior chromosomal conditions in previous pregnancy
Family history of specific genetic conditions (either parent)
-Complications may include miscarriage, Rh sensitization, infection, and bleeding.