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Prenatal Diagnosis

Stack #175372

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
Created by: knpearso
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