**Ch.

8 Objectives**
Tuesday, September 28, 2010 9:02 AM

1. Indicate the occurrence of birth defects

Birth defect = congenital malformation = congenital anomaly : used to describe structural, behavioral, functional and metabolic disorders present at birth Major anomalies occur in 2-3% of live born infants 2-3% more recognized by age 5 (total of 4-6% of children with major anomalies by age 5) 21% of infant deaths due to birth defects 5th leading cause of years of potential life lost prior to age 65, major contributor to disabilities Non-discriminatory by race

2. Indicate the etiology of most birth defects

40-60% of persons with birth defects are unknown cause 15% genetic 10% environmental [SEE TEXT FOR MORE DETAILS ABOUT ENVIRONMENTAL FACTORS, ONLY ANSWERING HERE WHAT IS ASKED IN THE OBJECTIVES] 20-25% combination gene/environment 0.5-1% due to twinning Minor anomalies (not in themselves detrimental to heath but, in some cases, associated w/ major defects 15% of newborns Ex) microtia, pigmented spots, short palpebral fissures

3. Distinguish the types of abnormalities

Types of Abnormalities Occur during formation of structures May result in complete or partial absence of a structure or in alterations of its normal configuration Origin during third to eighth weeks of gestation Disruptions: morphological alterations of already formed structures -caused by destructive processes -ex) defects produced by amniotic bands (cleft lip, amputated toe or finger)

Defect by amniotic band

Deformations: results from mechanical forces that mold a part of the fetus over a prolonged period -ex) clubfeet caused by compression in amniotic cavity -often involve musculoskeletal system and may be reversed postnatally

Clubfeet

Syndrome: a group of anomalies occurring together that have a specific common cause -indicates that a diagnosis has been made and that the risk of recurrence is known [compare to] Association: nonrandom appearance of two or more anomalies that occur together more frequently than by chance alone, but the cause has not been determined -example: VACTERL association (vertebral, anal, tracheoesophageal, renal, & limb anomalies) -associations are important because recognition of one or more of the components promotes the search for others in the group

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-example: VACTERL association (vertebral, anal, tracheoesophageal, renal, & limb anomalies) -associations are important because recognition of one or more of the components promotes the search for others in the group

4. Indicate the effects of:

a. b. c. d. e. f. g. h. i. j. Rubella- cataracts, glaucoma, heart defects, deafness, tooth abnormalities Cytomegalovirus (CMV)- meningoencephalitis producing mental retardation, microcephaly, blindness, fetal death Herpes (HSV)- microphthalmia, microcephaly, retinal dysplasia (usually transmitted during vaginal delivery) HIV- microcephaly, growth retardation (usually transmitted during vaginal delivery) Toxoplasmosis (from poorly cooked meat, soil contaminates)- hydrocephalus, cerebral calcifications, microphthalmia Thalidomide (antinauseant and sleeping pill)- limb defects (amelia, micromelia), heart malformations Valproic acid (anticonvulsant used in epileptic women)- neural tube defects; heart, craniofacial, and limb anomalies Diazepam (valium, antianxiety agent)-cleft lip with and without cleft palate Tetracyclines (broad-spectrum antibiotics); amphetamines- bone/tooth anomalies; oral clefts and cardiovascular abnormalities Alcohol (leading cause of mental retardation) i. Fetal Alcohol Spectrum Disorder- broad term to refer to any alcohol-related defects ii. Fetal Alcohol Syndrome- severe end of spectrum, includes structural defects, growth deficiency, mental retardation

Fetal alcohol syndrome: -indistinct philtrum -thin upper lip -depressed nasal bridge -short nose -flat midface

k. Isoretinoin(13-cis-retinoic acid, analogue of Vitamin A, prescribed for acne treatment)- pattern known as isoretinoin embryopathy OR vitamin A embryopathy l. Diethylbestrol (used to prevent abortion)- raises instance of reproductive cancers in women exposed in utero, also caused high reproductive dysfunction secondary to malformations in uterus, uterine tubes, upper vagina. Males- increase in malformation of testes, abnormal sperm m. Diabetes- stillbirths, neonatal defects, abnormally large infants, congenital malformations n. Obesity- BMI >30kg/m2 associated w/ 2-3fold increased risk for having a child with neural tube defect, also increased risk for heart defect, omphalocele, multiple anomalies, and obesity o. Organic mercury- multiple neurological symptoms resembling cerebral palsy

5. Describe techniques for prenatal diagnosis and therapy Diagnostic

a. Ultrasonography -non-invasive, uses high-frequency sound waves to create images -may be transabdominal or transvaginal (higher quality) -can detect blood flow of major vessels, movement of heart valves, flow of fluid in trachea/bronchi -safe, commonly used -fetal age, growth -Crown-Rump Length (CRL)- during weeks 5-10 -Biparietal diameter of skull, femur length, abdominal circumference -during later time periods -presence/absence of anomalies -neural tube defects -abdominal wall defects -heart and facial defects -status of uterine environment -placental position and umbilical blood flow -presence of multiple gestations b. Maternal Serum Screening - -fetoprotein (AFP) Produced normally by fetal liver, peaks at approximately 14 weeks, leaks into maternal circulation via placenta Increase in maternal serum during 2nd trimester and steadily decline after 30 weeks gestation INCREASES IN: neural tube defects, omphalocele, gastroschisis, bladder exstrophy, amniotic band syndrome, sacrococcygeal tera toma, intestinal atresia DECREASES IN: Down syndrome, trisomy 18, sex chromosome abnormalities, triploidy Conditions also result in lower serum concentration of hCG and unconjugated estriol c. Amniocentesis - Needle inserted transabdominally, 20-30ml withdrawn Layers traversed: Skin Camper's Fascia Scarpa's Fasia Muscles of Abdominal wall External/Internal obliques

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 External/Internal obliques Transversus abdominus Transversalis fascia Parietal peritoneum Perimetrium Myometrium Endometrium Chorionic Membrane <Amnion> - Usually not performed before 14 weeks - Fluid analyzed for AFP and acetylcholinesterase - Karyotyping
d. Chorionic Villus sampling Inserting needle transabdominally or transvaginally into placental mass and aspirating 5-30mg of villus tissue Cells are cultured and genetically analyzed Greater risk of fetal loss than with amniocentesis **Maternal Serum Screening, Amniocentesis, and Chorionic Villus Sampling are usually reserved for high-risk pregnancies** -advanced maternal age (35+) -previous genetic history or family history of neural tube defect -presence of maternal disease such as diabetes -abnormal ultrasound or serum screening test Therapies a. Fetal Transfusion - In cases of fetal anemia produced by maternal antibodies or other causes - Needle into umbilical vein, blood transfused directly to fetus b. Fetal Medical Treatment - Infections, arrhythmias, compromised thyroid function, etc. - Drugs can also be administered via intramuscular injection to gluteal region or via umbilical vein c. Fetal Surgery - High risk, performed with no reasonable alternative - ex) obstruction to vital organs to prevent permanent damage d. Stem Cell Transplantation and Gene Therapy - Fetus does not develop immunocompetence before 18 weeks, thus it may be possible to transplant tissues or cells before this time without rejection - Hematopoietic stem cells for treatment of immunodeficiency or hematologic disorders - Tay-sachs, cystic fibrosis

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