embryology disorders Flashcards
increases with advanced age of the mother
primary cause is maternal meiotic nondisjunction
characteristics: severe mental retardation, epicanthal folds, Brushfield spots, simian creases, decrease in alpha-fetoprotein
Down Syndrome/Trisomy 21
autosomal dominant congenital skeletal anomaly characterized by retarded bone growth in the limbs with normal-sized head and trunk
achondroplasia
a hereditary disorder of connective tissue, resulting in abnormally long and thin digits and also frequently in optical and cardiovascular defects.
marfan syndrome
occurs when the blastocyst implants within the uterine tube due to delayed transport (ampulla of uterine tube is most common)
frequently disposed by chronic salpingitis, endometriosis, and post-operative adhesions
most common in women with endometriosis or pelvic infammatory disease
clinical signs: abnormal uterine bleeding, unilateral pelvic pain, increased levels of hCG and a massive first trimester bleed
Ectopic Tubal Pregnancy (ETP)
Monosomy. XO,
widechest, webbing around neck
Turner Syndrome
clinical signs: preeclampsia during the first trimester, elevated hCG levels, and an enlarged uterus with bleeding
represents an abnormal placenta characterized by marked enlargement of chorionic villi
partial usually has a triploid karyotype due to the fertilization of the ovum by 2 sperm
complete is distinguished from a partial by the amount of chorionic villous involvement
hallmarks of complete mole include gross, generalized edema of chorionic villi forming grape-like, transparent vesicles, hyperplastic proliferation of surrounding trophoblastic cells, and absence of an embryo/fetus
Hydatidiform Mole
malignant tumor of the trophoblast that may occur following a normal or ectopic pregnancy, abortion, or hydatidiform mole
with a high degree of suspicion, elevated hCG levels are diagnostic
characteristics: malnutrition, achalasia, hyperthyroidism
Gestational Trophoblastic Neoplasia or Choriocarcinoma
benign or malignant tumor that arises from remnants of the notochord
may be found either intracranially or in the sacral region and occurs more commonly in men late in adult life
Chordoma
tumor that arises from remnants of the primitive streak
derived from pluripotent cells of the primitive streak and often contains various types of tissue
occurs more commonly in female infants and usually becomes malignant during infancy
Sacrococcygeal Teratoma
constellation of syndromes ranging from minor lesions of lower vertebrae to complete fusion of the lower limbs
caused by abnormal gastrulation, in which the migration of mesoderm is disturbed.
vater= includes vertebral defects, anal atresia, tracheoesophageal fistula, and renal defects
vacterl= similar to vater but also includes cardiovascular defects and upper limb defects
Caudal Dysplasia
occurs when the umbilical blood vessels abnormally travel through the amniochorionic membrane before reaching the placenta properly.
Valamentous Placenta
occurs when the placenta attaches in the lower part of the uterus, covering the internal os.
uterine (maternal) blood vessels rupture during the later part of the pregnancy as the uterus begins to gradually dilate.
delivery is usually done by C-section
Placenta Previa
occurs when a placenta implants on the myometrium, deep into the myometrium, or through the wall of the uterus, respectively.
results in retained placenta and hemorrhage and may lead to uterine rupture
risk factors: curettages, previous C-section, severe endometritis, or closely spaced pregnancies
Placenta accreta/increta/percreta
sudden development of maternal hypertension
usually after week 32 of gestation
involves a generalized arteriolar constriction that impacts the brain, kidneys, liver, and small blood vessels
treatment involves magnesium sulfate and hydralazine
risk factors: nulliparity, diabetes, hypertension, renal disease, twin gestation, hydatidiform mole
eclampsia is the same but includes the symptom of convulsions
Preeclampsia and Eclampsia
occurs when the mother is Rh-negative and fetus is Rh-positive (does not effect first baby but will affect future pregnancies)
will lead to release of large amounts of unconjugated bilirubin
symptoms in newborn: ademia, edema, enlarged spleen/liver, hydrops, newborn jaundice
Eryothroblastosis Fetalis
occurs when there is a low amount of amniotic fluid
may be associated with the inability of the fetus to excrete urine into the amniotic sac due to renal agenesis
results in many fetal deformities (potter syndrome) and hypoplastic lungs
Oligohydramnios
occurs when there is a high amount of amniotic fluid
associated with the inability of the fetus to swallow due to anencephaly, tracheoesophageal fistula, or esophageal attresia
commonly associated with maternal diabetes
Polyhydramnios
occurs when bands of amniotic membrane encircle and constrict part of the fetus, causing limb amputations and craniofacial anomalies
amniotic band syndrome
heterogenous group of genetic defects characterized by lack or decreased synthesis of either the alpha-globin chain or beta-globin chain of hemoglobin alpha2beta2
Thalessemia syndromes
evidence: multiple dimples present in the back of the infant
least severe variation
sb occulta
occurs when the meninges protrude through a vertebral defect and form a sac filled with cerebrospinal fluid (CSF)
spinal cord remains in normal position
sb with meningocele
occurs when meninges and spinal cord protrude through a vertebral defect and form a sac filled with CSE
sb meningomyelocele
occurs when the posterior neuropore of the neural tube fails to close during week 4 of development
most severe type
causes paralysis from the level of the defect caudally
variation present an open neural tube
sb with rachischisis
occurs when the meninges protrude through the skull defect and form a sac filled with CSE
cb with meningocele
occurs when the meninges and brain protrude through the skull defect and form a sac filled with CSF.
poor outcome
cb with meningoencephalocele
occurs when the meninges, brain, and a portion of the ventricle protrude through the skull defect
cb with meningohydroencephalocele
type of upper NTD that occurs when the anterior neuropore fails to close during week 4 of development
brain fails to develop
incompatible with extrauterine life
anencephaly
occurs when the caudal vermis and tonsils of the cerebellum and the medulla oblongata herniate through the foramen magnum
symptoms: difficulty swallowing, laryngeal stridor, diminishing gag reflex, apnea, and vocal cord paralysis
Arnold-Chiari malformation
type of noncommunicating hydrocephalus
usually associated with dilation of the 4th ventricle, posterior fossa cyst, agenesis of the cerebellar vermis, small cerebellar hemispheres, occipital meningocele, and frequently agenesis of the splenium of the corpus callosum
Dandy-walker syndrome
Characterized by congenital white forelock and multiple symmetrical hypo pigmented or depigmented areas
piebaldism
Loss of melanocytes, autoimmune disorder, white spots on skin (what Utah has)
vitiligo
Extreme retroflexion of head, short/almost absent neck, hyperextended spine, facial skin is connected directly to the skin of the chest, scalp is directly connected to the skin of the back
iniencephaly
infants do not have kidneys and can therefore not make urine
potter syndrome
