Stack #175372
Quiz yourself by thinking what should be in
each of the black spaces below before clicking
on it to display the answer.
Help!
|
|
||||
|---|---|---|---|---|---|
| Indications for prenatal diagnosis | Maternal age 35 or greater at delivery, Previous child with an abnormality, Parental balanced translocation or other chromosome rearrangement, Parents carry AR disorder, Mother carries X-linked disorder, Sex selection, Fetal structural abnormality by ultr
🗑
|
||||
| Increases with advancing maternal age | Risk of non-disjunction (failure of chromosomes in a pair to separate during meiosis)...Aging of Ova, Spindle fibers, Cumulative effect of radiation, hormone effects, infection, Delayed fertilization (due to declining rate of coitus), Relaxed selection in
🗑
|
||||
| Advanced Paternal Age | Insufficient evidence to provide risk; Predisposes fetus to
🗑
|
||||
| Down Syndrome | 80-90% due to maternal nondisjunction; 95% trisomy 21, rest are various translocations and mosaicism; Always mentally retarded; Congenital heart disease (CHD) in 40%; Life expectancy probably 50-60 years without CHD; With CHD 30% die by age 10
🗑
|
||||
| Robertsonian translocation | Involve two acrocentric chromosomes
🗑
|
||||
| risk of translocation with Carrier mother | 15% risk of translocation trisomy 21,
🗑
|
||||
| risk of translocation with Carrier father | 1-2% risk of translocation trisomy 21.
🗑
|
||||
| Neural tube defects | geographic variation (1% N. Ireland, Scotland, Wales); female more common, happens at 4 weeks of development, not always paralyzed, incontinence, anesthesia, positional abnormalities
🗑
|
||||
| Spinal Bifida associated with deformity at base of brain | Arnold Chiari malformation with hydrocephalus in 80% of cases
🗑
|
||||
| Causation of Neural Tube Defects | Maternal nutrition, Seasonal, Valproic acid, Folate deficiency
🗑
|
||||
| Non-Invasive prenatal diagnosis | serum screening for open body defects, chromosome abnormalities, and ultrasound
🗑
|
||||
| Maternal serum screening | all markers depressed in trisomy 18
🗑
|
||||
| Serum screening related findings w/ High maternal serum alpha-fetoprotein | Spine defects, Abdominal wall defects, Placental abnormalities
🗑
|
||||
| Spinal Bifida | severity depends on upper level of defect; bowel and bladder problems; postnatal surgery and shunting; 25% risk developmental problems; offer amniocentesis for aneuploidy
🗑
|
||||
| Encephalocele | severe if includes brain; Can be mildly affected if only fluid; Counsel and refer; Offer termination
🗑
|
||||
| Abdominal wall defects | Omphalocele (associated with other defects), Gastroschisis, Limb-body wall defect/amniotic bands
🗑
|
||||
| Gastroschisis | Counsel about other malformations, Often bowel/vascular insults, Counsel about surgery, Watch for growth restriction, Monitor closely in 3rd trimester due to risk of demise
🗑
|
||||
| Trisomy 18 positive findings | Choroid plexus cysts, Clenched hand with overlapping fingers, Clubbed foot, Omphalocele, Heart defects, Single umbilical artery (2-vessel cord), Intrauterine growth restriction, Cleft lip/palate, Increased nuchal lucency, Hydramnios due to tracheoesophag
🗑
|
||||
| Trisomy 18/13 counseling | 2/3-3/4 die in utero, never learn to walk/talk, 90% die by age 1
🗑
|
||||
| cleft lip or palate | offer amniocentesis including 22q deletion testing. can be associated with aneuploidy but good outlook with surgeries
🗑
|
||||
| Down Syndrome counseling: | all mentally retarded, 40% congential heart defects, life span can be normal, offer amniocentesis and termination
🗑
|
||||
| Smith-Lemli-Opitz (SLOS) positive | Microcephaly, Abnormal genitals, Limb abnormalities, Syndactyly/polydactyly, Renal anomalies, Heart defects
🗑
|
||||
| Head abnormalities | Holoprosencephaly, Dandy Walker cyst, Vermian abnormalities
🗑
|
||||
| Clubbed foot | Can be isolated, chromosomal, syndromic, neuromuscular or other etiologies
🗑
|
||||
| Invasive prenatal diagnosis | Amniocentesis (15-20 weeks), Chorionic villus sampling (10-13 weeks), Fetal blood sampling (>16 weeks), Skin and Muscle biopsy
🗑
|
Review the information in the table. When you are ready to quiz yourself you can hide individual columns or the entire table. Then you can click on the empty cells to reveal the answer. Try to recall what will be displayed before clicking the empty cell.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
To hide a column, click on the column name.
To hide the entire table, click on the "Hide All" button.
You may also shuffle the rows of the table by clicking on the "Shuffle" button.
Or sort by any of the columns using the down arrow next to any column heading.
If you know all the data on any row, you can temporarily remove it by tapping the trash can to the right of the row.
Embed Code - If you would like this activity on your web page, copy the script below and paste it into your web page.
Normal Size Small Size show me how
Normal Size Small Size show me how
Created by:
knpearso
Popular Genetics sets