Chapter 30,31,32,.pptx

RELAX DMSO 2010 CHAPTER 31,32,33  Objectives Differentiate between mitosis and meiosis. Compare structural and numerical abnormalities to a normal chromosome. Describe autosomal dominant, autosomal recessive, X- linked, and multifactorial inheritance patterns. Ident...

RELAX DMSO 2010 CHAPTER 31,32,33  Objectives Differentiate between mitosis and meiosis. Compare structural and numerical abnormalities to a normal chromosome. Describe autosomal dominant, autosomal recessive, X- linked, and multifactorial inheritance patterns. Identify risk factors for chromosomal abnormality occurrence. List the prenatal laboratory testing used to identify an abnormal embryo and/or fetus. List the maternal infections associated with the acronym TORCH. Explain maternal and fetal complications associated with maternal and gestational diabetes. Describe the pregnancy-induced hypertension. Discuss the fetal associations with essential hypertension  Identify the differences between eclampsia and preeclapsia. Describe changes in the uterus, ovaries and ligaments after delivery. Explain normal postpartum physiology. Recognize the sonographic appearance of the normal and abnormal postpartum uterus. Identify causes and sonographic appearance of puerperal infections. Summarize postpartum ovarian vein thrombophlebitis findings. List cesarean section complications.  Genetics Syndrome-multiple anomalies related to a single factor or pathology:: trisomy Associateion- Pattern of multiple anomalies seen not related to single pathology or cause: (Anomaly which is associated with other pathologies) Sequence-pattern of multiple anomalies resulting in single  Anomalies Anomalies – Malformation-cleft lip (abnormal from beginning) – Deformation-intrinsic or extrinsic(acted on by outside factors; abnormal shape or position-clubbing – Disruption-structure was normal; breaks down in developmental process – Dysplasia-lacks normal organization of cells  Genetics Genes made up of DNS. Chromosomes contain the genes Cell nuclei contain chromosomes. Arrangement of DNA in genes create genetic code – Traits – characteristics  Two groups of cells Germ (gametes;reproduction) – Contain 23 chromosomes or one set – Haploid – 22 autosomes plus 1 sex chromosome ( X or Y) – X-female – Y-male Somatic (all others) – Involved in process of mitosis which produce daughter cells – 23 chromosomes – Errors occurring in meiosis result in different number of chromosomes creating abnormalities. Mitosis Division of a cell resulting in the normal haploid number 44 chromosomes PLUS an XX or XY pair Meiosis Division of a cell resulting in a reduction, by half, in the normal haploid number of chromosomes 23 chromosomes PLUS an X or Y chromosome AKA Doploid cell  Inheritance Autosomal dominant 50% chance of inheritance One parent has trail and dominates other parent genes Autosomal recessive 25% chance of inheritance Each parent has gene associated with trait but is not affected X-lined Located on the X chromosome Males only affected (recessive Multifactorial Result of genetic and non-genetic factors Risk Factors Maternal age greater than 35 years Ethnicity Geography First Trimester Prenatal Screening Human chorionic gonadotropin (hCG) Pregnancy associated plasma protein A (PAPP-A) Nuchal transluceny (NT) measurements Trisomy 13,18,21 Increase in hCG and decrease in Papp-a,increased NT associated with T 21. Second Trimester Prenatal Screening Maternal serum alphafetoprotein (MSAFP) hCG Unconjugated estriol (uE3) Inhibin-A Aids in identification of fetuses at risk for trisomies  Syndrome Presence of two or more embryologically unrelated anomalies occurring together. Sequence Single defect leading to development of other defects Association non random occurrence of two or more defects Amniotic Band Sequence Constriction band begins with rupture of amnion Entrapment of fetal parts Amputations of parts Sono appearance Uterine synechiae may mimic but do not entangle fetus How can you distinquish amniotic band from sheets?  Apert Syndrome Rare condition Premature fusion of skull bones Prominent or bulging forehead Increased cephalic index= cranyostosis Premature fusion of skull Hypertelorism ACC Ventriculomegaly Syndactyly Beckwith-Weidemann Syndrome Magroglossia, Anterior wall defects Hypoglycemia at birth Macrosomia Hemihyperplasia Fetus has Omphalocele Increase AFP Enlarged kidneys, Poly cardiomegaly Combo of magroglossia and macrosomia think BWS Caudal Regression Syndrome Autosominal dominant Anterior meningocele Presacral teratoma Anorectal anomalies Limb-Body Wall complex Collection of ventral wall and limb defects Sono appearance Fetus stuck to placenta or uterus Facial cleft Kyphoscoliosis Limb anomalies Meckel-Gruber syndrome Rare Renal dysplasia Limb anomalies Enlarged echogenic kidneys Polydactyly Occipital encephalocele oligo Noonan syndrome Autosomal dominant Downward slanting eyes Hypertelorism Low set ears Short stature Webbed neck-(cystic hygroma)male genitalia differenates Noonan from Turner’s syndrome Cardiac anomalies Potter Sequence Oligo Deformities of extremities Abnormal facial features Pulmonary hypoplasia Renal anomalies(agenesis,Multicystic dysplastic Triploidy Most spontaneously abort by 20 weeks IUGR CHS anomalies Facial abnormalities Cardiac abnormalities Genitourinary abnormalities Single umbilical artery Oligo Syndactyly hydropic placenta  Trisomy 13 (Patau syndrome ) Extra chromosome 13 Cleft lip Cleft palate VSD Holoprosencephaly Microcephaly Micrognathia Polydactyly Single umbilical artery Echogenic cardiac foci Omphalocele CNS anomalies IUGR Trisomy 18 (Edwards syndrome) Extra set of chromosome 18 Cleft palate Predominately female Syndactyly Micrognathia Omphalocele Rocker-bottom feet Microcephaly Club foot Cardiac anomalies (ASD,VSD) Renal anomalies Clenching hands CDH Meningomyelocele Cleft lip Symmetric IUGR Nonimmune hydrops fetalis Strawberry shape head Trisomy 21(Down Syndrome) Most common Hyperechoic bowel Cardiac anomalies (VSd, ASD) Pyelectasis Gastric anomalies Small or absent nasal bone Cranial anomalies NT MSK anomalies Short limbs IUGR Hydrops (nonimmune ) Polyhydramnios Collapsed stomach Ventriculomegaly omphalocele Turner’s Syndrome Occurs female fetus only Cadriac defects(coarctation of aorta,bicuspid aortic valve Renal anomalies Hydrothorax Nonimmune hydrops Cystic hygroma VATER/VACTERL Association of anomalies Vertebral Anal atresia cardiac Trachia oesophagel fistula Renal anomalies limbs  Maternal disease places pregnancy at risk due to destruction or developments. Indirect harm occurs to fetus through placental injury cause by maternal diseases. Sono can asssess for: Placental maturation Amniotic fluid IUGR Maternal disease  Infections after implantation accounts for most adverse effects Spread through placenta-enter fetal circulation and then through fetal body  Tends to cause fetal infection in 3rd trimester – Associated with fetal Hydrocephalus Seizures Cerebral palsy Anemia Jaundice Hepatosplenomegaly Erythroblastosis Intracranial calcifications  Cytomegalovirus – Most common cause of intrauterine infections. Associated with IUGR Microcephaly Cranial calcifications Blindness Seizures Jaundice Thrombocytopenia hepatosplenomegaly Diabetes Mellitus Most common maternal disorder – Type I – Type II – Gestational – Macrosomia – Increased risk for birth trauma – Shoulder dystocia Pregnancy Induced Hypertension Resolves upon parturition Toxemia / Preeclampsia -3rd trimester – Hypertension Associates with HELLP – Proteinuria syndrome (variant of – Maternal edema preeclampsia) – Hemolysis – CNS irritability – Elevated Liver enzymes – Low platelets – Pt presents with HTN, edema,abdominal pain Pregnancy Induced Hypertension Eclampsia – All preeclampsia symptoms – Convulsions – Coma  Low birth weight, fetal distress and placental abruption are associated with toxemia.  Post-partum Appearance Cervical os open and ill defined Homogenous myometrium Enlarged myometrial vessels Thick endometrium Endometrial free fluid Large uterus Flaccid uterine ligaments  Transabdominal & Transperineal approach – used post partum – Day 1 post partum internal os open – Myometrium homogeneous 7-10 cm thick – Fluid common should be between 1.2-1.4 cm – Sag 14-25 cm Post Partum Hemorrhage Vaginal delivery – Blood loss greater than 500 ml Cesarean delivery – Blood loss greater than 1000 ml Most common cause is abnormal placental attachment-problem with deciduabalis – Placenta accreta – Placenta increta – Placenta percreta  Most frequency cause of post partum hemorrhage is uterine atony Uterus fails to reach pregravid tone Risks; Multifetal pregnancy Macrsomy Prolonged labor More than 5 term pregnancies Rapid labor Polyhydramnios chorioamnionitis  Risk factors for hemorrhage Prior c section Prior abnormal placental Sonographic appearance-loss of AMA hypoechoic rim of myometrial tissue Prior myomectomy Loss of hyperechoic serosa to bladder interface Endometrial defect Anterior placenta previa Post Partum Hemorrhage Other causes – Endometritis – RPOC – Uterine atony Puerperal Infection Symptoms occur in first 24 hours after delivery – Temperature over 100.4° F/38° C – Chills – Headache – Malaise – Anorexia – Large tender uterus – Lochia (odorous) – Sono: fluid in cavity;endo appears thick,gas with shadowing Types of Infection Kidney Breast Endometritis Thrombophlebitis Endometritis Infection of the endometrium Due to – Migration of normal flora – PROM – RPOC – Prolonged labor – Vaginal delivery after a C-section Endometritis – Sonographic Appearance Thick irregular endometrium Possible fluid in the endocervical canal Gas RPOC Postpartum Ovarian Vein Thrombophlebitis (PVOT) Clot within the ovarian vein Increased with cesarean deliveries Virchow’s triad – Hypercoagulability of blood during pregnancy & the post-partum period – Venous stasis – Venous wall damage as a result of uterus expansion and contraction Occurs most often in the right side Cesarean Section Complications Hematoma Infection  Tidbits Turning patient on left side decreases IVC compression alleviating supine hypotensive syndrome or IVC syndrome FH at the umbilicus = 20 weeks gestation CRL= _____ mm + 42 = _____ days Gastroschisis no cover;to right Omphalocele cord insert (trisomy 13,18)  Placenta Umbilical vein Portal vein Ductus venosus Ivc Rt. Atrium RV foramen ovale PA left atrium Lungs ductus arteriosus left ventricle Aorta Aorta Pulmonary vein AA Lt atrium Common iliac A Left ventricle Internal Iliac Aorta umbilical A Placenta  Most common abnormality of diaphragm – CDH  Evaluate fetal thorax 1. does heart occupy 1/3 of chest if no TC/AC ratio <.77 Check AFI and ribs Ir TC/AC ratio >.77 check heart IF yes to 1 2. is diaphragm intact If no check for CDH;if Yes 3. Are lungs homogeneous If No CCAM lock for hydrops,bronchogenic cyst,pulmonary sequestration 4. Are lungs surrounded by anechoic fluid if yes pleural effusion check for hydrops  Ductal arch – Ductus arteriosus No head neck vessels More anterior in heart