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34 Cards in this Set
- Front
- Back
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most common prenatal diagnostic test |
ultrasound
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when should genetic ultrasound be performed for best visualization of developed fetal structures |
between 18-20 weeks
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Genetic amniocentesis info
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•Check for genetic disease
•Beneficial w/maternal age > 35 or in teen pregnancy •History of previous chromosomal abnormality •Carrier of chromosomal abnormalities •Mother carrier of X-linked disease •Tay-Sachs – inborn error of metabolism •Cystic fibrosis – parents carriers of autosomal recessive disease •Neural tube defects – spina bifida •Polyhydraminos •Determine fetal lung maturity •Rh factor |
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when should genetic ultrasound be performed for best visualization of developed fetal structures
|
between 18-20 weeks
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Percutaneous umbilical blood sampling (PUBS)
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•Obtaining blood that allows for rapid chromosome diagnosis, transfusion for Rh or hydrops
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|
Genetic amniocentesis info
|
•Check for genetic disease
•Beneficial w/maternal age > 35 or in teen pregnancy •History of previous chromosomal abnormality •Carrier of chromosomal abnormalities •Mother carrier of X-linked disease •Tay-Sachs – inborn error of metabolism •Cystic fibrosis – parents carriers of autosomal recessive disease •Neural tube defects – spina bifida •Polyhydraminos •Determine fetal lung maturity •Rh factor |
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Chorionic Villus Sampling
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•Similar to amniocentesis but information available at 8-10 wks gestation
•Directly tests products of conception |
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|
Percutaneous umbilical blood sampling (PUBS)
|
•Obtaining blood that allows for rapid chromosome diagnosis, transfusion for Rh or hydrops
|
|
|
Alpha-fetoprotein (AFP)
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MSAFP – maternal serum AFP
elevated in cases of neural tube defects, omphalocele or gastroschisis (intestines on outside) low in cases of Downs Syndrome performed at 15-22 wks inaccurate dating is the most common cause for abnormal MSAFP |
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Chorionic Villus Sampling
|
•Similar to amniocentesis but information available at 8-10 wks gestation
•Directly tests products of conception |
|
|
Fetal Fibronectin (fFN)
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•Not typically present between 22 & 37 weeks
•Positive fFN during this time incr risk for preterm labor Ultrasound for cervical length along with fFN best predictor for preterm labor |
|
|
Alpha-fetoprotein (AFP)
|
MSAFP – maternal serum AFP
elevated in cases of neural tube defects, omphalocele or gastroschisis (intestines on outside) low in cases of Downs Syndrome performed at 15-22 wks inaccurate dating is the most common cause for abnormal MSAFP |
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|
Implications of prenatal diagnostic testing
|
•Offer genetic counseling prior to any procedure for prenatal diagnosis
•Following diagnosis a couple may decide not to have child •Even if termination is not an option, parents have an opportunity to prepare for special needs child Every pregnancy has a 3-4% risk of birth defects •May treat disorders in utero, such as galactosemia, mom could follow a galactose-free diet |
|
|
Genetic amniocentesis info
|
•Check for genetic disease
•Beneficial w/maternal age > 35 or in teen pregnancy •History of previous chromosomal abnormality •Carrier of chromosomal abnormalities •Mother carrier of X-linked disease •Tay-Sachs – inborn error of metabolism •Cystic fibrosis – parents carriers of autosomal recessive disease •Neural tube defects – spina bifida •Polyhydraminos •Determine fetal lung maturity •Rh factor |
|
|
Fetal Fibronectin (fFN)
|
•Not typically present between 22 & 37 weeks
•Positive fFN during this time incr risk for preterm labor Ultrasound for cervical length along with fFN best predictor for preterm labor |
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|
Uterine Changes with Pregnancy
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o Increases from 2 oz. to 2 lbs.
o Increases capacity more than 500x o Greatest growth @ placental site – fundus o By end of pregnancy, 1/6th of total maternal blood volume is contained in the vascular system of uterus |
|
|
Implications of prenatal diagnostic testing
|
•Offer genetic counseling prior to any procedure for prenatal diagnosis
•Following diagnosis a couple may decide not to have child •Even if termination is not an option, parents have an opportunity to prepare for special needs child Every pregnancy has a 3-4% risk of birth defects •May treat disorders in utero, such as galactosemia, mom could follow a galactose-free diet |
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|
Cervix Changes with Pregnancy
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o Becomes softer & shorter (Goodell’s sign)
o Bluish discoloration (Chadwick’s sign) o Mucous plug forms to prevent ascent of microorganisms into uterus |
|
|
Uterine Changes with Pregnancy
|
o Increases from 2 oz. to 2 lbs.
o Increases capacity more than 500x o Greatest growth @ placental site – fundus o By end of pregnancy, 1/6th of total maternal blood volume is contained in the vascular system of uterus |
|
|
Alpha-fetoprotein (AFP)
|
MSAFP – maternal serum AFP
elevated in cases of neural tube defects, omphalocele or gastroschisis (intestines on outside) low in cases of Downs Syndrome performed at 15-22 wks inaccurate dating is the most common cause for abnormal MSAFP |
|
|
when should genetic ultrasound be performed for best visualization of developed fetal structures
|
between 18-20 weeks
|
|
|
Cervix Changes with Pregnancy
|
o Becomes softer & shorter (Goodell’s sign)
o Bluish discoloration (Chadwick’s sign) o Mucous plug forms to prevent ascent of microorganisms into uterus |
|
|
Fetal Fibronectin (fFN)
|
•Not typically present between 22 & 37 weeks
•Positive fFN during this time incr risk for preterm labor Ultrasound for cervical length along with fFN best predictor for preterm labor |
|
|
Genetic amniocentesis info
|
•Check for genetic disease
•Beneficial w/maternal age > 35 or in teen pregnancy •History of previous chromosomal abnormality •Carrier of chromosomal abnormalities •Mother carrier of X-linked disease •Tay-Sachs – inborn error of metabolism •Cystic fibrosis – parents carriers of autosomal recessive disease •Neural tube defects – spina bifida •Polyhydraminos •Determine fetal lung maturity •Rh factor |
|
|
Implications of prenatal diagnostic testing
|
•Offer genetic counseling prior to any procedure for prenatal diagnosis
•Following diagnosis a couple may decide not to have child •Even if termination is not an option, parents have an opportunity to prepare for special needs child Every pregnancy has a 3-4% risk of birth defects •May treat disorders in utero, such as galactosemia, mom could follow a galactose-free diet |
|
|
Percutaneous umbilical blood sampling (PUBS)
|
•Obtaining blood that allows for rapid chromosome diagnosis, transfusion for Rh or hydrops
|
|
|
Uterine Changes with Pregnancy
|
o Increases from 2 oz. to 2 lbs.
o Increases capacity more than 500x o Greatest growth @ placental site – fundus o By end of pregnancy, 1/6th of total maternal blood volume is contained in the vascular system of uterus |
|
|
Chorionic Villus Sampling
|
•Similar to amniocentesis but information available at 8-10 wks gestation
•Directly tests products of conception |
|
|
Cervix Changes with Pregnancy
|
o Becomes softer & shorter (Goodell’s sign)
o Bluish discoloration (Chadwick’s sign) o Mucous plug forms to prevent ascent of microorganisms into uterus |
|
|
Alpha-fetoprotein (AFP)
|
MSAFP – maternal serum AFP
elevated in cases of neural tube defects, omphalocele or gastroschisis (intestines on outside) low in cases of Downs Syndrome performed at 15-22 wks inaccurate dating is the most common cause for abnormal MSAFP |
|
|
Fetal Fibronectin (fFN)
|
•Not typically present between 22 & 37 weeks
•Positive fFN during this time incr risk for preterm labor Ultrasound for cervical length along with fFN best predictor for preterm labor |
|
|
Implications of prenatal diagnostic testing
|
•Offer genetic counseling prior to any procedure for prenatal diagnosis
•Following diagnosis a couple may decide not to have child •Even if termination is not an option, parents have an opportunity to prepare for special needs child Every pregnancy has a 3-4% risk of birth defects •May treat disorders in utero, such as galactosemia, mom could follow a galactose-free diet |
|
|
Uterine Changes with Pregnancy
|
o Increases from 2 oz. to 2 lbs.
o Increases capacity more than 500x o Greatest growth @ placental site – fundus o By end of pregnancy, 1/6th of total maternal blood volume is contained in the vascular system of uterus |
|
|
Cervix Changes with Pregnancy
|
o Becomes softer & shorter (Goodell’s sign)
o Bluish discoloration (Chadwick’s sign) o Mucous plug forms to prevent ascent of microorganisms into uterus |
