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Partial Molar Pregnancy
Abnormal fertilization, cystic placenta, and nonviable fetus. Vaginal bleeding, enlarged uterus, severe nausea/vomiting. Elevated hCG levels. Abnormal gestational sac, fetal abnormalities.
Complete Molar Pregnancy/GTD (Gestational Trophoblastic Disease)
Abnormal fertilization, grape-like clusters, no viable fetus. Vaginal bleeding, enlarged uterus, severe nausea/vomiting. Markedly elevated hCG levels. Grape-like clusters without a fetus.
Invasive Mole
Molar pregnancy invading the uterine wall. Persistent elevated hCG, vaginal bleeding. Elevated hCG levels. Invasion into the uterine wall.
Choriocarcinoma
Malignant tumor arising from trophoblastic cells. Hemorrhage, respiratory distress, neurologic symptoms. Extremely elevated hCG levels. Metastases to various organs.
Anembryonic Pregnancy
Gestational sac without embryonic development. Vaginal bleeding, no embryonic development. Low or plateaued hCG levels. Empty gestational sac.
Cornual Ectopic
Ectopic pregnancy in the uterine horn. Abdominal pain, vaginal bleeding. Low rising hCG levels. Ectopic implantation in the cornu of the uterus.
Ovarian Ectopic
Ectopic pregnancy in the ovary. Lower abdominal pain. Low rising hCG levels. Ectopic implantation in the ovary.
Peritoneal/Abdominal Ectopic
Ectopic pregnancy in the abdominal cavity. Abdominal pain. Low rising hCG levels. Ectopic implantation in the abdominal cavity.
Cervical Ectopic
Ectopic pregnancy in the cervix. Vaginal bleeding, pelvic pain. Low rising hCG levels. Ectopic implantation in the cervix.
Heterotopic Pregnancy
Simultaneous intrauterine and ectopic pregnancies. Combines ectopic and intrauterine pregnancy symptoms. Variable hCG levels. Intrauterine and extrauterine gestational sacs.
Pseudogestational Sac/Decidual Cyst
Empty gestational sac-like structure. Mimics intrauterine pregnancy. Variable hCG levels. Empty gestational sac.
Spontaneous Abortion
Naturally occurring termination of pregnancy. Vaginal bleeding, abdominal pain. Decreased hCG levels. Empty or incomplete gestational sac.
Threatened Abortion
Vaginal bleeding without pregnancy loss certainty. Vaginal bleeding without cervical dilation. Stable or decreasing hCG levels. Viable embryo with threatened miscarriage.
Complete Abortion
Passage of all pregnancy products. Passage of all products of conception. Decreased hCG levels. Absence of gestational sac.
Incomplete Abortion
Retained products after incomplete pregnancy loss. Vaginal bleeding, retained products. Variable hCG levels. Presence of retained products.
Lithopedion
Calcified remains of a retained, nonviable fetus. Asymptomatic, calcified fetus. No specific lab findings. Calcified fetal remains.
Inevitable/Impending/Imminent
Abortion
Ongoing pregnancy loss indications. Vaginal bleeding, cervical dilation. Decreasing hCG levels. Gestational sac with imminent miscarriage.
Septic Abortion
Infection complicating an abortion. Fever, abdominal pain, discharge. Elevated WBC, positive blood cultures. Signs of infection in the uterus.
Subchorionic Hemorrhage
Blood collection behind the chorionic membrane. Vaginal bleeding. Normal or stable hCG. Blood collection between chorion and endometrium.
Embryonic Oligohydramnios
Reduced amniotic fluid in early pregnancy. Reduced amniotic fluid. Normal or abnormal depending on cause. Decreased amniotic fluid around the embryo.
1st Trimester Infection
Early pregnancy infection affecting fetal development. Fever, abdominal pain, vaginal discharge. Elevated WBC, positive cultures. Signs of infection in the uterus.
1st Trimester Hemolytic Disease
Maternal-fetal blood group incompatibility causing hemolysis. Anemia, jaundice. Positive Coombs test, high bilirubin. Signs of hemolysis in the fetus.
Placental Hematoma
Blood collection within the placenta. Vaginal bleeding. Variable hCG levels. Blood collection within the placenta.
1st Trimester Hydrops
Fluid accumulation in fetus. Variable hCG levels. Fluid accumulation in multiple fetal compartments.
1st Trimester Hydrancephaly
Absence of cerebral hemispheres. Variable hCG levels. Absence of normal brain tissue.
1st Trimester Anencephaly
Absence of the brain. Variable hCG levels. Absence of cranial vault.
1st Trimester Acrania
Absence of the cranial vault. Variable hCG levels. Absence of the calvaria.
1st Trimester Cephalocele
Herniation of brain tissue. Variable hCG levels. Protrusion of the brain through a defect.
1st Trimester Iniencephaly
Severe retroflexion of the head. Variable hCG levels. Retroflexed head with exposed spinal cord.
1st Trimester Ventriculomegaly
Enlarged lateral ventricles in the brain. Variable hCG levels. Dilated ventricles in the fetal brain.
1st Trimester Holoprosencephaly
Failure of the forebrain to divide. Variable hCG levels. Abnormal development of the cerebral hemispheres.
1st Trimester Dandy Walker Malformation
Cerebellar hypoplasia, hydrocephalus. Variable hCG levels. Enlarged posterior fossa, absent cerebellar vermis.
1st Trimester Spina Bifida
Neural tube defect in the spine. Variable hCG levels. Visible spinal cord defect.
1st Trimester Gastroschisis
Herniation of abdominal contents. Variable hCG levels. Bowel loops outside the abdominal cavity.
1st Trimester Omphalocele
Herniation of abdominal contents within a sac. Variable hCG levels. Abdominal organs enclosed in a membranous sac.
1st Trimester Obstructive Uropathy
Urinary tract obstruction in early pregnancy. Enlarged fetal bladder, oligohydramnios. Variable hCG levels. Distended bladder, dilated ureters.
1st Trimester Cystic Hygroma
Fluid-filled sacs on the neck. Variable hCG levels. Fluid-filled cysts around the fetal neck.
Umbilical Cord Cyst
Cystic structure in the umbilical cord. Usually asymptomatic. Variable hCG levels. Cystic structure in the umbilical cord.
Corpus Luteum Cyst of Pregnancy
Fluid-filled ovarian cyst during pregnancy. Usually asymptomatic. Variable hCG levels Fluid-filled structure in the ovary.
Leiomyoma of Pregnancy
Uterine fibroid present during pregnancy. Usually asymptomatic. Variable hCG levels. Fibroid in the uterus.
Focal Myometrial Contraction
Localized uterine wall contraction during pregnancy. Usually asymptomatic. Variable hCG levels. Localized contraction in the uterine wall.
Oligohydramnios
Reduced amniotic fluid. Variable hCG levels. Decreased amniotic fluid volume.
Polyhydramnios
Increased amniotic fluid. Variable hCG levels. Excessive amniotic fluid volume.
Microcephaly/Microencephaly
Small head and brain size. Variable hCG levels. Abnormally small fetal head.
Megalencephaly
Enlarged head and brain size. Variable hCG levels. Abnormally large fetal head.
Anencephaly
Absence of the brain. Variable hCG levels. Absence of cranial vault.
Acrania/Exencephaly
Absence of the cranial vault. Variable hCG levels. Absence of the calvaria.
Spina Bifida/Occulta/Cystica
Neural tube defect in the spine. Variable hCG levels. Visible spinal cord defect.
Cephalocele
Herniation of brain tissue. Variable hCG levels. Protrusion of the brain through a defect.
Meningocele
Herniation of the meninges. Variable hCG levels. Protrusion of the meninges through a defect.
Myelocele
Herniation of the spinal cord. Variable hCG levels. Protrusion of the spinal cord through a defect.
Myelomeningocele/Meningomyelocele
Herniation of the spinal cord and meninges. Variable hCG levels. Protrusion of the spinal cord and meninges through a defect.
Myeloschisis
Complete absence of the neural tube. Variable hCG levels. Complete failure of neural tube closure.
Arnold Chiari or Chiari II Malformation
Cerebellar herniation through the foramen magnum. Variable hCG levels. Crowding of structures at the base of the skull.
Dandy Walker Malformation/Syndrome
Cystic dilation of the fourth ventricle. Variable hCG levels. Enlarged posterior fossa, absent cerebellar vermis.
Dandy Walker Variant
Mild form of Dandy Walker Malformation. Variable hCG levels. Mild dilation of the fourth ventricle.
Mega Cisterna Magna
Enlarged cisterna magna. Variable hCG levels. Enlarged posterior fossa, normal cerebellum.
Posterior Fossa Arachnoid Cyst
Cyst in the posterior fossa. Variable hCG levels.
Agenesis of the Corpus Callosum (CC)
Absence or partial absence of corpus callosum. Variable, may include intellectual disability, developmental delays. Absence or partial absence of the corpus callosum.
Alobar Holoprosencephaly
Severe facial and brain anomalies. Single-lobed brain structure, facial abnormalities.
Semilobar Holoprosencephaly
Moderate facial and brain anomalies. Partial separation of cerebral hemispheres, moderate facial abnormalities.
Lobar Holoprosencephaly
Mild facial and brain anomalies. Partial separation of cerebral hemispheres, milder facial abnormalities.
Hydranencephaly
Absence of cerebral hemispheres, presence of brainstem. Fluid-filled cranial cavity, absent cerebral hemispheres.
Porencephaly/Porencephalic Cyst
Fluid-filled cavities or cysts in the brain. Cystic areas within the brain tissue.
Schizencephaly
Clefts or cleft-like openings in the cerebral hemispheres. Abnormal openings or clefts in the brain tissue.
Brachycephaly
Shortened head shape. No direct visualization; typically diagnosed after birth based on head shape.
Craniosynostosis
Premature fusion of skull bones, leading to abnormal head shape. Usually diagnosed postnatally, as it involves assessing the fusion of skull bones.
Dolichocephaly
Elongated head shape. No direct visualization; typically diagnosed after birth based on head shape.
Macrocephaly
Enlarged head size. No direct visualization; typically diagnosed after birth based on head size.
Scaphocephaly
Boat-shaped head. No direct visualization; typically diagnosed after birth based on head shape
Kyphosis
Abnormal forward curvature of the spine. No direct visualization; typically diagnosed after birth based on spine curvature.
Scoliosis
Abnormal lateral curvature of the spine. No direct visualization; typically diagnosed after birth based on spine curvature.
Hemivertebrae
Wedge-shaped vertebrae. No direct visualization; typically diagnosed after birth based on spine imaging.
Platyspondylic
Flattened vertebral bodies. No direct visualization; typically diagnosed after birth based on spine imaging.
Cloverleaf Kleeblattschädel Head Shape
Abnormal skull shape resembling a cloverleaf. No direct visualization; typically diagnosed after birth based on skull shape.
Teratoma
Tumor with various tissue types. Variable, depending on location. Elevated tumor markers (AFP, hCG). Solid or cystic mass with various tissue types.
Rachischisis
Failure of neural tube closure in the spine. Visible spinal cord defect.
Cranium Bifidum
Failure of neural tube closure in the skull. Visible skull defect.
Merocephaly
Partial or incomplete development of the head. Abnormal head development.
Fetal Teratoma
Fetal tumor with various tissue types. Variable, depending on location and size. Elevated tumor markers (AFP, hCG). Solid or cystic mass with various tissue types in the fetus.