7/24/2019 Genetic Testing Pamplet 2015
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Sources Cited: CDPH (2009) The California Prenatal Screening Program retrieved from: wwwcd!hcagov"!rogramsaccessed on:
#ovem$er %&' 20%&
Quad Marker Screening (MSAFP)Risk Assessment for:
Down Syndrome, Trisomy 18, Neural Tube Defects, SLOS
Performed At 15 to 20 Weeks of Pregnanc
Melinda RussellMaternity-Newborn Project
http://www.cdph.ca.gov/programshttp://www.cdph.ca.gov/programshttp://www.cdph.ca.gov/programs7/24/2019 Genetic Testing Pamplet 2015
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Sources Cited: CDPH (2009) The California Prenatal Screening Program retrieved from: wwwcd!hcagov"!rogramsaccessed on:
#ovem$er %&' 20%&
!ests !"at Ma #e $ffered:
CVS (Chorionic Villus Sampling):This may be offered at 10-14 weeks of pregnancy: A small number of cells are taken from
the placenta by experienced doctors. The cells are tested forown syndrome and Trisomy 1!" and other chromosomeabnormalities.
Ultrasound:A detailed picture of the fetus is made using sound
wa#es. After 1$ weeks of pregnancy" a specialist examines thefetus #ery closely for birth defects.
Amniocentesis:This may be offered after 1$ weeks ofpregnancy. A small amount of fluid is taken out of the uterus byexperienced doctors. Tests are done for specific birth defects.
Quad Marker Screening
At 15 to 20 %eeks of ®nancThe %uad &arker 'creening tests four different substancesfrom your blood: A() *Alpha-feto protein+" h, *human
,horionic onadotropin+" u/ *unconugated striol+ andnhibin. These screenings assess risks for:
own 'yndrome
Trisomy 1! *mental retardation 2 physical birth
defects+ 3eural Tube efects *anencephaly or spina
bifida+ '5' 6'mith-emli-5pit7 'yndrome *physical
birth defects and mental retardation+
'f ou "ae *S +efore QuadMarker Screening
,horionic #illus sampling *,8'+ is a prenatal diagnostic
test for detecting birth defects at an early stage ofpregnancy. 9ou will get a isk Assessment only for3eural tube defects and '5'. iagnostic tests for own'yndrome and Trisomy 1! are conducted with ,8'.
!ests Resu,ts (Risk Assessment)
A %uad &arker screening result is sent to your doctorabout ;-10 days after blood draw. Your results are specific
to you. They are either Screen Negative or Screen
Positive.
Screen Negative This means that the risk *chance+ of thefetus ha#ing any of these birth defects is low4 weeks ofpregnancy.
A genetic counselor will re#iew the test results and familymedical history. The counselor explains the diagnostictests" which may be offered.
Down Syndrome is caused by an extra chromosome ?>1*Trisomy >1+. ,hromosomes are packages of genetic material
found in e#ery cell of the body. @irth defects can occur whenthere are too few or too many chromosomes. own syndrome isa common cause of mental retardation and other birth defectsand can affect women of any age. owe#er as women get older"the chances increase for ha#ing a bay with own syndrome.
Trisomy 18 is caused by an extra chromosome ?1!. &ostfetuses with Trisomy 1! are lost through miscarriage. @abiesborn with Trisomy 1! ha#e mental retardation and physicaldefects.
eural Tu!e De"ects (TD) As a fetus is forming" the neural
tube extends from the top of the head to the end of the spine.This de#elops into the babyBs brain and spinal cord. The neuraltube is completely formed by $ weeks after conception.
Chen there is an opening in the spine" it is called spina !i"ida.This defect often causes paralysis of the babyBs legs. t may also
cause loss of bowel and bladder control.
Anencephalyoccurs when most of the brain does not de#elop.
This defect causes the death of the fetus or newborn.
A!dominal #all De"ects (A#D)are problems in#ol#ing the
babyBs abdomen and intestines. ntestines and other organs areformed outside the body. 'urgery after birth is usuallyperformed to correct the defect.
Smith$%emli$&pit' syndrome (S%&S)', This is a #ery rarebirth defect. @abies with 'mith-emli-5pit7 syndrome *'5'+
cannot make cholesterol normally. @abies born with thiscondition are mentally retarded and may ha#e many physicaldefects.
Screen Positive results S5' can also indicate increasedchances for Congential abnormalities and fetal Demise *fetal
death+. This is why this screening is also called SCDscreening.
http://www.cdph.ca.gov/programshttp://www.cdph.ca.gov/programshttp://www.cdph.ca.gov/programs