Abnormal OB (All Trimesters) Flashcards

1
Q

Spontaneous Abortion (SAB)

A

Usually occurs 1-3 weeks after embryonic or fetal demise (12% of all pregnancies)

Cause frequently cannot be determined but can caused by:

  • Endocrine factors
  • Failure of corpus luteum
  • Maternal mullerian duct anomalies
  • Interruption of embryonic development
  • Specific chromosomal causes
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2
Q

Complete Abortion

A

All products of conception expelled

Sono findings:

  • Empty uterus with normal endo cavity
  • Possibly small amount of fluid in endo cavity
  • Uterus may remain enlarged for up to 2 weeks following SAB
  • Presence of trophoblastic waveforms surrounding endo may remain for up to 3 days post SAB
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3
Q

Incomplete Abortion

A

Part of products of conception expelled with portion remaining in uterus

Sono findings:

  • Thickened or irregular endo echoes
  • May have fluid in endo cavity
  • May have trophoblastic flow patterns for up to 5 days post event
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4
Q

Missed Abortion

A

Presence of embryo (>5 mm) without cardiac activity, which may be retained for several weeks before patient experiences symptoms

Clinical symptoms:

  • hCG levels less than expected for dates
  • loss of symptoms of pregnancy
  • decrease in uterine size
  • brownish vaginal discharge without frank bleeding
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5
Q

Threatened Abortion

A

Condition in which the future of the pregnancy may be in jeopardy but pregnancy continues

Patients present with vaginal bleeding or cramping and a closed cervix

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6
Q

Anembryonic Pregnancy (“Blighted Ovum”)

A

Gestation in which embryo does not develop or stops early in development and cannot be visualized

Clinical signs:

  • BhCG may rise but not as rapidly as expected
  • Uterus small for dates
  • Vaginal spotting
  • Closed cervix

Sono findings:

  • Sac may enlarge slightly on serial scans
  • No identifiable embryo in gestational sac 25 mm or larger
  • Fluid filled level indicates blood and is positive evidence of embryonic death
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7
Q

Ectopic Pregnancy

A

Implantation of fertilized ovum at any site except endo

**Most common site is ampulla of the fallopian tube (90%)

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8
Q

Adnexal ectopic pregnancies

A

May occur at any site in the fallopian tube or ovary

Ectopics in ampulla are most common but they can also occur in isthmus, interstitial, or fimbrae of tube.

Ovarian ectopics are rare

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9
Q

Uterine ectopic pregnancies

A

When fertilized ovum implants at any location in uterus other than endo cavity

Can be within cornua, uterine scar, or cervix

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10
Q

Cervical ectopic pregnancies

A

Rare occurrence (1:16,000)

Risk factor is previous uterine curettage

High mortality and morbidity rates due to risk of hemorrhage

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11
Q

Abdominal ectopic pregnancy

A

Rare occurrence in which fertilized ovum implants within peritoneal cavity

May progress further into gestation than other ectopics before it’s found

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12
Q

Heterotopic pregnancy

A

Coexisting intrauterine and extrauterine pregnancies

More commonly found in fertility patients who have undergone zygote or gamete transfer

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13
Q

Clinical symptoms of ectopic pregnancies

A
  • Amenorrhea
  • Positive pregnancy test
  • Vaginal spotting/ bleeding
  • Adnexal tenderness/ mass
  • Pelvic pain
  • Shoulder pain (referred pain)
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14
Q

Sono findings in ectopic pregnancy

A
  • Live extrauterine embryo
  • Empty uterus (intrauterine sac should be seen with TV scan when beta hCG levels reach 1000-2000 mlu/ml or >6500 mlu/ml TA)
  • Presence of adnexal mass
  • “Sliding sac sign” - gentle pressure with TV probe moves gestational sac
  • Presence of endo decidual reaction or psuedosac
  • Free fluid in cul-de-sac, adnexa, pericolic gutters, or Morrison’s pouch
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15
Q

Gestational Trophoblastic Disease

A

A spectrum of pathologic conditions resulting from the abnormal proliferation of trophoblastic tissue

Most often occurs during or after the implantation of fertilized ovum but can occur months to years after any type of pregnancy

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16
Q

Clinical findings of GTD

A
  • Enlarged uterus
  • Markedly elevated hCG levels
  • Vaginal bleeding/ passage of tissue
  • Hyperemesis gravidarum
  • Absence of fetal heart tones
  • Early onset of pre-eclampsia
  • Hyperthyroidism
  • Theca lutein cysts
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17
Q

Complete hydatidaform mole

A

Most common form of trophoblastic disease

The chorionic villi are hydropic without identifiable embryonic or fetal tissue

Sono findings:

  • Enlarged uterus filled with echogenic mass
  • Endo cavity is filled with echogenic material that appears homogeneous in 1st trimester, and has cystic areas in the 2nd trimester
  • Hypervascular, low resistance flow pattern with Doppler
  • Ovarian theca lutein cysts
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18
Q

Partial Mole

A

Partial molar pregnancy

Commonly has one set of maternal chromosomes and two sets of paternal chromosomes, resulting in a triploid karyotype

The identified fetal tissue is anomalous but trophoblastic proliferation is mild

Have both hydropic chorionic villi as well as relatively normal villi.

Fetal and/or embryonic tissue is frequently identified

Sono findings:

  • Deformed gestational sac
  • Growth restricted fetus with triploidy anomalies (snydactyly and hydrocephalus)
  • Enlarged placenta with multiple cystic areas
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19
Q

Persistent Trophoblastic Neoplasia (PTN)

A

Complication of pregnancy that most commonly follows GTD

Two types

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20
Q

Invasive Mole (Chorioadenoma destruens)

A

Most common form of PTN

Penetrates myometrium or adjacent structures and may cause uterine rupture

Malignant non-metastatic GTD

Sono findings:

  • Presence of focal or diffuse echogenic material within endo cavity
  • May be seen extending into myometrium
  • Irregular, sonolucent areas may be seen surrounding trophoblastic tissue
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21
Q

Choriocarcinoma

A

Very rare (1: 30,000 pregnancies)

1 in 40 molar pregnancies give rise to this

Vascular invasion, hemorrhage, and necrosis of myometrium are common occurrences

Malignant, metastatic GTD that may metastasize to lung, liver, brain, bone, GI tract and skin

Sono findings:

  • Elevated hCG levels in nonpregnant patient
  • Enlarged uterus
  • Irregular complex mass with marked vascularity
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22
Q

Acardiac Twin/ Twin Reversed Arterial Perfusion (TRAP)

A

Rare, diamniotic/ monochorionic

Blood is shunted through a vein to vein and an artery to artery anastamoses from normal twin (pump twin) to acardiac twin

Acardiac Twin:

  • Poorly developed upper body
  • Anencephaly
  • Absent/ rudimentary heart
  • Limbs may be present but truncated

Normal Twin:

  • May develop hydrops or polyhydramnios
  • Increased cardiac burden/ failure
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23
Q

Conjoined Twins

A

Monozygotic and occurs when incomplete division of embryonic disk after 13 days gestation

Usually anterior and one body part is attached, there is no membrane and there is limited or no fetal position change

Described by the site of union:

  • Thoracopagus = thorax (most common)
  • Omphalopagus = xiphoid to umbilicus
  • Pyopagus = sacrum
  • Ischiopagus = ischium/ pelvis
  • Craniopagus = head
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24
Q

Stuck Twin (Poly-Oli Sequence)

A

Monochorionic/ Diamniotic

Usually manifests between 16-26 weeks gestation

One twin normal size with polyhydramnios

One twin small with oligohydramnios and seems to be “stuck” because of lack of space

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25
Q

Twin to Twin Transfusion Syndrome

A

Same sex fetuses with shared placenta

The arterial blood of donor twin pumps into venous system of recipient twin (arteriovenous anastomoses)

Fetal weight discordance of =/> 20%

Donor Twin:

  • IUGR
  • Oligohydramnios

Receiving Twin:

  • Large for dates
  • Polyhydramnios
  • Hydrops
  • Enlarged viscera
  • Edema
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26
Q

“Vanishing” Twin

A

Demise of one embryo in late 1st trimester/ early 2nd trimester

Embryo and sac usually reabsorbed

“Vanishing” sac may mimic implantation bleed or submembranous bleed

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27
Q

Intrauterine Growth Restriction (IUGR)

A

General term for spectrum of fetal physiologic conditions that result in an infant weighing AT OR BELOW 10th percentile for GA

Growth restricted infants are born with diminished stores of fat and glycogen and are likely to be hypoglycemic

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28
Q

Maternal causes of IUGR

A
  • Poor nurtitional status
  • Smoking
  • Multiple gestation
  • Drug/alcohol abuse
  • Severe anemia
  • Diabetes
  • Chronic renal disease
  • Rh sensitization
  • Severe chronic asthma
  • Under 17 or over 35 years of age
  • Heart disease
  • High altitude
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29
Q

Placental causes of IUGR

A
  • Placental infarcts & hemangiomas
  • Small placenta
  • Single umbilical artery
  • Abruptio placenta
  • Placental insufficiency
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30
Q

Fetal causes of IUGR

A
  • Genetic or chromosomal defects

- Intrauterine infection

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31
Q

Symmetric IUGR (25% of cases)

A

Growth restriction affecting entire fetus which is a result of 1st trimester fetal insult

Sono findings:

  • All measurements more than 2 weeks below expected GA
  • Transcerebellar diameter consistent with dates when other parameters are less than expected
  • Oligohydramnios
  • Mature placenta earlier than expected
  • Low BPP score
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32
Q

Asymmetric IUGR (75% of cases)

A

“Brain sparing”

Caused by placental insufficiency (most common), chromosomal abnormalities, or infection later in pregnancy

Sono findings:

  • Decrease in AC (2 weeks behind HC)
  • Normal HC and FL
  • Oligohydramnios
  • Mature placenta earlier than expected (grade 3)
  • Absence or reversal of diastolic flow is critical
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33
Q

Macrosomia

A

Large for dates, fetal weight above 4000 g or above the 90th percentile for GA

Causes:

  • Maternal diabetes
  • Maternal obesity
  • Postterm pregnancy

Sono findings:

  • Large AC
  • Decreased HC/AC ratio
  • Polyhydramnios
  • Placentomegaly
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34
Q

Oligohydramnios

A

Abnormally decreased amount of amniotic fluid
AFI below 5 cm (Below 5th percentile for GA)

Causes:

  • Genitourinary tract abnormality (fetal)
  • IUGR (fetal)
  • Demise (fetal)
  • Post dates
  • Poor nutrition (maternal)
  • Placenta insufficiency (maternal)
  • PROM (maternal) : pre-eclampsia and eclampsia
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35
Q

Polyhydramnios

A

Abnormally increased amount of amniotic fluid; acute or chronic; AFI above 24 cm (Above 95th percentile for GA)

ESP BOOK??

  • Mild: 8-12 cm
  • Moderate: 12-16 cm
  • Severe: >16 cm
Caused by: 
Maternal 
-gestational diabetes 
-Rh incompatibility 
-Cardiac disease 
-Preeclampsia
-Idiopathic 

Fetal

  • CNS anomaly
  • GI anomalies
  • Abdominal wall defects
  • Cardiac defects
  • Facial clefts/masses
  • Fetal hydrops
  • Twin to twin transfusion
  • Sacrococcygeal teratoma
  • Skeletal dysplasia
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36
Q

Hydrops Fetalis

A

An excessive accumulation of fluid in fetal tissues and body cavities

May result in:

  • Diffuse interstitial edema
  • Pleural effusion
  • Pericardial effusion
  • Ascites
  • Anasarca
  • Placentomegaly
  • Polyhyrdamnios

Two types

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37
Q

Immune hydrops

A

Due to Rh isoimmunization- mother is Rh - and father is Rh + (fetus = Rh+)

Maternal antibodies recognize Rh antigens on fetal RBC’s as foreign and attack and destroy them which results in fetal anemia (which will in turn result in hydrops)

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38
Q

Nonimmune hydrops

A

Hydrops dues to any cause other than Rh sensitization

Causes:

  • Cardiac anomalies/arrythmias
  • Infection (TORCH)
  • Chromosomal abnormalities
  • Congenital hematologic disorders
  • Abdominal or pulmonary masses leading to venous obstruction
  • Twin to Twin transfusion syndrome
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39
Q

Sono findings in Hydrops

A
  • Pericardial effusion (earliest sign)
  • Ascites
  • Fetal skin thickening (anasarca) - > 5 mm
  • Placental thickening (> 5 cm AP)
  • Pleural effusion
  • Hepatosplenomegaly
  • Polyhydramnios
  • Enlarged umbilical vein (> 1 cm)
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40
Q

Placenta previa

A

Placental tissue encroaching upon the cervix and/or crossing internal cervical os which is caused by abnormally low implantation of blastocyst

Primary cause of painless vaginal bleeding in 3rd trimester

Risk factors:

  • AMA
  • Multiparity
  • Previous c-section
  • Therapeutic abortion
  • Closely spaced pregnancies
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41
Q

Classification of placenta previa

A

Complete/ Total Previa:

  • placenta completely covering internal cervical os
  • symmetric or asymmetric

Partial Previa:
-placenta partially covering internal os

Marginal Previa:
-placenta encroaching on but not crossing os

Low Lying Placenta:
-placenta in LUS within 2 cm of os

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42
Q

Vasa Previa

A

Fetal vessels crossing the cervical os, passing between cervix and presenting fetal part with the membranes intact

Associated with velamentous insertion (Umbilical cord that inserts on the membranes)

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43
Q

Abrupto placenta/ placental abruption

A

Premature placental detachment (either all or part) from myometrium

Risk factors:

  • Maternal HTN
  • AMA
  • Multiparity
  • Maternal vascular disease
  • Smoking
  • Maternal diabetes
  • Trauma
  • Cocaine use
  • Uterine leiomyomas
  • Placenta previa
  • Short umbilical cord

Cinical findings:

  • Severe pelvic pain
  • Vaginal bleeding
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44
Q

Placental Infarcts

A

Ischemic necrosis of placental villi resulting from interference with maternal blood flow to intervillous space

Occurs more commonly in eclampsia/preeclampsia

Sono findings:

  • Anechoic or hypoechoic areas seen in placenta
  • May be small or large
  • Absence of blood flow on color/spectral doppler
  • No flow on color/spectral doppler
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45
Q

Placenta Accreta

A

Chorionic villi of the placenta are in direct contact with the uterine myometrium but do not invade

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46
Q

Placenta Increta

A

Chorionic villi of the placenta invade the uterine myometrium

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47
Q

Placenta Percreta

A

Chorionic villi of the placenta penetrate/perforate myometrium

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48
Q

Subchorionic hemorrhage (hematoma)

A

Accumulation of blood beneath the chorion

Sono findings:

  • Appearance depends on age of hematoma
  • Usually decreases in size on follow up exams
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49
Q

Chorioangioma

A

Vascular tumor that arises from the chorionic tissue of the amniotic surface of the placenta

Placental hemangioma

When tumors are large (> 5cm), is when complications occur. Associated with increased MS-AFP

Sono findings:

  • Enlarged placenta
  • Circular, solid Hypoechoic mass protruding from chorionic plate
  • Usually occur at the umbilical insertion site
  • Polyhydramnios
  • Fetal hydrops
  • IUGR
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50
Q

Circumvallate placenta vs. circummarginate placenta

A

Circumvallate:

  • Small central chorionic ring surrounded by thickened amnion and chorion
  • May predispose to early separation from uterine wall, antepartum bleeding and threatened AB

Circummarginate:
-Central attachment of membranes without central ring

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51
Q

Accessory Lobes of the placenta

A

Succenturiate:
-Accessory cotyledon with vascular connections to main placenta (connected to body of placenta)

Bipartite:
-Placenta divided into two lobes but united by primary vessels and membranes

Annular:
-Ring shaped placenta

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52
Q

Trisomy 13 (Patau Syndrome)

A

Chromosomal abnormality that occurs 1:6000 births.
Extra chromosome 13
Poor prognosis
Holoprosencephaly (Most common marker)

Sono findings:

  • Cleft lip/palate
  • IUGR
  • Polydactyly
  • Cardiac defects
  • Omphalocele
  • Renal anomalies
  • Absent/ small eyes
  • Microcephaly
  • Agenesis of corpus callosum
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53
Q

Trisomy 18 (Edwards Syndrome)

A

Chromosomal abnormality that is the second most common.
Extra chromosome 18
Poor prognosis (Average lifespan of 5 days)
Clenched fists and rocker bottom feet (most common markers)

Sono findings:

  • Heart defects
  • Choriod plexus cysts
  • Micrognathia
  • Renal anomalies
  • Cleft lip and palate
  • Omphalocele
  • Enlargement of cisterna magna
  • Single umbilical artery
  • IUGR
  • Polyhydramnios
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54
Q

Trisomy 21 (Down Syndrome)

A

Most common chromosomal abnormality occurring 1:710 live births
Extra chromosome 21

Sono findings:

  • Thickened nuchal fold (> 6 mm)
  • Heart defects
  • Duodenal atresia
  • Hyperechoic cardiac focus
  • Macroglossia
  • Micrognathia
  • Hyperechoic bowel
  • Sandal toe deformity
  • Clinodactyly
  • Low-set ears
  • Short stature
  • Small or absent nasal bones
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55
Q

Turner’s Syndrome

A

Occurs in females only
Chromosomal syndrome attributed to complete or partial absence of an X chromosome
Occurs in 1:5000 births
Not very good prognosis-high risk for in utero demise and those who do survive have ovarian dysgenesis and short stature

Sono findings:

  • Cystic hygroma
  • Heart defects
  • Non-immune hydrops
  • Renal anomalies (horse shoe kidney, renal agenesis)
  • General lymph edema
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56
Q

Triploidy

A

Complete extra set of chromosomes
-Often results in one ova being fertilized by two sperm
Vast majority spontaneously abort prior to 20 weeks

Sono findings:

  • Heart defects
  • Hypertelorism
  • Micrognathia
  • Microphthalmia
  • Ventriculomegaly
  • Oligohydramnios
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57
Q

Amniotic Band Syndrome

A

The rupture of the amnion, which leads to entrapment/entanglement of the fetal parts by the “sticky” chorion.
Depends on the age of injury as to how severe the defects will be.
-Early entrapment may lead to severe craniofacial defects and internal malformations.
-Late entrapment leads to amputations or limb restrictions.

Sono findings:

  • Echogenic amniotic bands attached to fetus
  • Various fetal anomalies (at least 2)
  • Fetal postural deformities
  • Various secondary abnormalities
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58
Q

Beckwith-Wiedemann Syndrome

A

Normal karyotype

Associated with Macrosomia, omphalocele and macroglossia

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59
Q

Eagle-Barret Syndrome (Prune Belly Syndrome)

A

Weakened abdominal wall musculature in conjunction with massively dilated bladder, ureters and kidneys

Decompression of hydronephrosis postnatally causes retraction and wrinkling of the skin, giving the appearance of a prune

Associated with dilated fetal bladder, small thorax, and imperforate anus

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60
Q

Meckel-Gruber Syndrome

A

Autosomal recessive condition
Lethal

Sono findings:

  • Encephalocele
  • IPKD
  • Oligohydramnios
  • Polydactyly
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61
Q

VACTERL Associations

A

Group of anomalies that may occur together

V ertebral defects
A nal atresia
C ardiac anomalies
T racheoesophageal fistula
R enal anomalies 
L imb dysplasia
62
Q

Limb-Body Wall Complex

A

Rare, complex malformation caused by the failure of closure of the ventral body wall

Has to have 2 or more of the following:

  • Limb defects
  • Lateral wall defects (esp. left)
  • Encephalocele
  • Exencephaly
  • Facial defects
  • Scoliosis
63
Q

Treacher-Collins Syndrome

A

Autosomal dominant disorder that affects the ears, mandible, and palate

Frequently associated with congenital heart defects

  • Small mandible
  • Micrognathia
  • Autosomal trisomy
  • Holoprosencephaly
64
Q

Ellis-Van Creveld Syndrome

A

Occurs in 200,000 births and more frequent in Amish community
Autosomal recessive
Also known as chondrodermal dysplasia

Sono findings:

  • Limb shortening (mild to moderate)
  • Polydactly
  • Heart defects (50%)
  • May have narrow thorax
65
Q

Pentalogy of Cantrell

A

Congential disorder associated with two of the following major defects:

  • Cardiac defect
  • Abdominal wall defect
  • Diaphragmatic hernia
  • Defect of diaphragmatic pericardium
  • Ectopia cordis
66
Q

Gastroschisis

A

Relatively small defect involving all 3 layers of the abdominal wall which allows for protrusion of the intestines into the amniotic cavity

Usually to the right of the umbilicus and is not covered by a membrane

Not associated with other anomalies

67
Q

Omphalocele

A

Congenital anterior abdominal wall defect in which abdominal organs (Liver, bowel, stomach) are atypically located within the umbilical cord and protrude outside the wall

Develops when there is a midline defect of the abdominal muscles, fascia, and skin

Covered in a membrane consisting on amnion and peritoneum

Associated with:

  • Cardiac defects
  • Genitourinary defects
  • GI abnormalities
  • Chromosomal abnormalities
68
Q

Esophageal Atresia

A

Discontinuity of esophagus and is associated with tracheoesophageal fistula 90% of time

Sono findings:

  • Small/absent fetal stomach
  • Failure to demonstrate stomach on serial exams
  • Polyhydramnios
69
Q

Duodenal Atresia

A

Blockage of the duodenum

Associated with Trisomy 21, cardiac, urinary, and GI anomalies

Sono findings:

  • “Double bubble” sign - dilated stomach and proximal duodenum
  • Polyhydramnios
70
Q

Hyperechoic Bowel

A

Increased echogenicity of fetal bowel that is similar to or greater than that of adjacent bone

Associated with:

  • Cystic fibrosis
  • Infection
  • IUGR
  • Chromosomal abnormalities
71
Q

Meconium ileus and peritonitis

A

Ileus:

  • Impaction of thick meconium in distal ileum
  • Frequently associated with cystic fibrosis
Peritonitis:
-Bowel perforation caused by bowel atresia or meconium ileus 
Sono findings:
-Calificiations in fetal abdomen 
-Fetal ascites 
-Polyhydramnios
-Presence of meconium pseudocyst
72
Q

Ventricular Septal Defect (VSD)

A

Caused by incomplete closure of the interventricular foramen and failure of the membranous part of the IV septum

Sono findings:

  • Demonstration of an opening between the ventricles on 4 chamber view
  • Bidirectional flow demonstrated with color Doppler
  • Large defects are easier to diagnose
73
Q

Atrial Septal defects (ASD)

A

Any abnormal opening between the atria

Diagnosis is difficult because of the normal patent foramen ovale

Sono findings:

  • Relies on demonstration of echo dropout at level of the atrial septum
  • Prenatal diagnosis unlikely due to patent foramen ovale
74
Q

Transposition of the Great Vessels

A

Origins of great vessels are transposed

  • Aorta arises from right ventricle
  • Pulmonary trunk arises from left ventricle

Normal 4 chamber heart view

Sono findings:

  • Correct left-right orientation is a MUST
  • Images of outflow tracts demonstrate anomalous origin
  • Depends on demonstration of parallel orientation of outflow tracts
75
Q

Ectopia Cordis

A

All or part of the heat is located outside of the chest cavity

Sono diagnosis is made by visualization of soft tissue mass outside of the thorax exhibiting cardiac activity

76
Q

Tetralogy of Fallot

A

Most common form of cyanotic heart disease

Consists of four anatomical abnormalities:

  • VSD
  • Overriding aorta
  • Pulmonic stenosis
  • Right ventricular hypertrophy
77
Q

Ebstein’s Anomaly

A

Malformation of the tricuspid valve with low insertion

Results in grossly enlarged right atrium

78
Q

Arrhythmia

A

Irregular rhythm

Can be due to:

  • Premature ventricular contractions (PVCs)
  • Premature atrial contractions (PACs)
  • Maternal caffeine intake, smoking and alcohol use
79
Q

Tachycardia

A

Heart rate greater than 180 bpm

80
Q

Bradycardia

A

Prolonged heart rate =/<100 bpm

Associated with complete heart block

Below 80 bpm, may be associated with fetal asphyxia

Persistent bradycardia may warrant early delivery

81
Q

Pleural effusion

A

May be isolated or in association with other abnormalities (esp. hydrops)

Sono findings:

  • Anechoic fluid seen in fetal chest
  • Fluid contours to surrounding lung and diaphragm
  • Lung tissue appears echogenic
82
Q

Congenital Diaphragmatic Hernia (CDH)

A

Results from the defective fusion/ formation of the diaphragm, allowing stomach, spleen, liver and/or colon to herniate into chest

Bochdalek:

  • More common (85% of cases)
  • Left sided hernia

Morgagni

CDH is usually associated with other anomalies such as cardiac and brain

Sono findings:

  • Identification of fluid filled bowel and especially stomach in chest at level of 4 chamber hear view
  • Heart displaced from left chest toward right
  • Associated with polyhydramnios
83
Q

Congenital Cystic Adenomatoid Malformation (CCAM)

A

Unilateral condition characterized by the replacement of normal lung parenchyma by abnormal tissue (often includes visible cysts)

Accounts for 25% of lung malformations

3 Types based on size of the cysts:

  • Type I: one or more large cysts (=/>2 cm)
  • Type II: multiple small cysts (<1-2 cm)
  • Type III: multiple small cysts, too small to be resolved by US beam so lung appears hyperechoic

Sono findings:

  • Demonstration of non-pulsatile echogenic mass in fetal lung (solid & cystic components)
  • Lateral displacement of heart
  • Possible signs of hydrops (Most common w/ type III)
  • Associated polyhydramnios
84
Q

Anencephaly

A

Most common neural tube defect

Congenital absence of the cerebral hemispheres and cranial vault. It occurs with failure of neural tube to close by 24 days gestation

Characterized as open defect covered by angiomatous stroma, rather than skin or bone

The brain stem and bony base of skull that form from other structures are present

Sono findings:

  • Absence of cranial vault-
  • Bulging eyes “frog-like” face
  • Rudimentary brain tissue herniating from defect
  • Macroglossia
  • Polyhydramnios
  • Increase in fetal activity
85
Q

Acrania

A

Developmental abnormality in which cranium is partially or completely absent with the development of abnormal brain tissue

Lethal anomaly with elevated AFP levels

Sono findings:

  • Skull is absent
  • Brain is present
  • Lack of hyperechoic bony calvaria
86
Q

Encephalocele (Cephalocele)

A

Herniation of brain and meninges or meninges and CSF (meningocele) through a cranial defect

Are associated with Meckel-Gruber Syndrome

Prognosis depends on amount of brain involved an associated findings

Encephaloceles are:

  • usually midline
  • Most commonly occipital
  • may be frontal or lateral

Sono findings:

  • Purely cystic extracranial mass (meningocele)
  • Solid mass contiguous with cranium (cephalocele)
  • Often associated w/ hydrocephalus,and polyhydramnios
87
Q

Spina bifida

A

General term for lack of closure of the vetebral column

Prognosis depends upon level and severity of lesion

Usually occurs in lumbosacral region

Fetuses may have:

  • Meningocele
  • Meningomyelocele: herniation of meninges and neural elements (spinal cord) thru spinal defect

Sono findings:
Transverse plane:
-Splaying of posterior elements into “U” or “V” configuration
-When sac is intact, cystic structure may be seen extending from back (small, simple cystic structure, cyst with septations and/or solid matter)
Longitudinal Plane:
-Splaying of parallel ossification centers
-Soft tissue defect or discontinuity of skin and muscle of posterior back

88
Q

Arnold Chiari Malformation Type II

A

Displacement of cerebellar vermis, fourth ventricle, medulla oblongata through foramen of magna into the upper cervical canal

Associated findings of spina bifida are secondary to this

Sono findings:

  • Compressed shape to the cerebellum - “banana sign”
  • Obliteration of cisterna magna
  • Flattening of temporal/frontal bones due to decreased intracranial pressure - “Lemon sign”
  • Ventriculomegaly
89
Q

Ventriculomegaly / Hydrocephalus

A

Dilation of the ventricular system secondary to an increase in the volume of CSF

Sono findings:

  • Presence of excess fluid in lateral ventricles
  • “Dangling” choroid plexus
  • Echogenic rim of solid brain tissue
  • Occipital horn dilates first
  • Mild enlargement = 10-15 mm
  • Severe enlargement = >15 mm

Associated findings:

  • Polyhydramnios
  • Hepatomegaly and fetal ascites
  • Meningomyelocele
  • Dandy-Walker
  • Encephalocele
  • Intracranial tumor
90
Q

Holoprosencephaly

A

Group of disorders resulting from absent/ incomplete division of the forebrain (prosencephalon) into cerebral hemispheres and lateral ventricles

Can be sporadic, due to chromosomal abnormalities (Trisomy 13 esp), or maternal infection

Facial anomalies are common with this:

  • cyclopia with proboscis
  • hypoterlorism
  • facial clefts
91
Q

Types of Holoprosencephaly

A

Alobar:

  • Most sever form
  • Monoventricle
  • Fused thalami
  • Absence of falx cerebri

Semi-Lobar:

  • Partial separation of ventricles & hemispheres with occipital lobe present
  • Incompletely fused thalami

Lobar:

  • Least severe form
  • Normal separation of thalami, hemispheres and ventricles
  • Absent cavum septum pellucidum and olfactory tracts
92
Q

Hydranencephaly

A

Destructive disorder due to bilateral internal carotid artery occlusion/ malformation

Characterized by near total lack of cerebral hemispheres with intact and normally developed meninges and skull

Sono findings:

  • Large fluid-filled cranium
  • Absent cerebral tissue/ cortical mantle
  • Falx cerebri is present
  • Normal midbrain and basal ganglia
  • Polyhydramnios
  • No associated anomalies
93
Q

Dandy-Walker Malformation

A

Complete or partial absence of cerebellar vermis and posterior fossa cystic dilation communicating with 4th ventricle

Associated with:

  • autosomal recessive disorders
  • Maternal infection
  • Diabetes
  • Exposure to alcohol and Coumadin

Sono findings:

  • Complete/ partial agenesis of cerebellar vermis with flattened cerebellar hemispheres
  • Large midline cystic structure in posterior fossa
  • Associated with ventriculomegaly and polyhydramnios
94
Q

Agenesis of Corpus Callosum

A

Failure of callosal fibers to form normal connection

May be partial or complete and is frequently associated with other anomalies

Sono findings:

  • Absence of CSP
  • Elevated dilated 3rd ventricle
  • Widely separated frontal horns of lateral ventricles with enlarged occiptal horn
  • “Teardrop” shaped ventricles, displaced upward and outward
95
Q

Choroid Plexus Cysts

A

Small cysts within the choroid plexus are common

Can be unilateral/bilateral, multiple or sinlge, large or small

May be considered a normal anatomic variant

96
Q

Microcephaly

A

Defined as decreased head size (more than 3 SD below the mean)

Symptom of several etiologic disturbances

Cause include:

  • Craniosynostosis
  • Chromosomal abnormalities
  • Exposure to teratogens
97
Q

Caudal Regression Syndrome

A

Structural abnormality of the caudal end of the neural tube and includes a spectrum of skeletal anomalies of the lower spine and lower limbs

More common in patients with diabetes

Associated anomalies:

  • GI and GU tracts
  • CNS
  • Heart
98
Q

Hypotelorism

A

Orbits placed closer together than expected

99
Q

Hypertelorism

A

Orbits placed wider apart than expected

100
Q

Cyclopia

A

Midline fusion of the orbits

101
Q

Facial cleft (Cleft lip/ palate)

A

Most common congenital facial abnormality

  • 25% cleft lip only
  • 50% cleft lip and palate
  • 25% cleft palate only

Sono findings:

  • Anechoic cleft extending from nostril to lip
  • May see tongue moving in cleft
  • May have association with polyhydramnios
  • Small stomach
102
Q

Macroglossia

A

Persistent protrusion of the tongue

Polyhydramnios

Associated with Beckwith-Wiedemann and Down Syndrome

103
Q

Micrognathia

A

Abnormally small jaw

Small receeding chin and lower lip

Associated with Trisomy 18

Polyhydramnios

104
Q

Frontal bossing

A

Prominent forehead due to absent nasal bridge

Associated with skeletal dysplasias and syndromes

105
Q

Epignathus

A

Rare pharyngeal teratoma which protrudes from fetal mouth

Sono appearance:

  • Large complex cystic and solid mass
  • Hyperextends neck
106
Q

Nuchal fold/ Nuchal thickening

A

Increased soft tissue thickness at posterior aspect of the neck

Slightly higher risk of chromosomal syndromes (esp. Trisomy 21)

Sono findings:

  • Oblique axial cross-section showing CSP, 3rd ventricle, cerebellum and CM
  • Measurement of > 6 mm considered abnormal (measured between 15-21 weeks)
  • Fetal head must not be hyperextended
107
Q

Cystic Hygroma

A

Benign developmental anomaly of the lymphatic system

Associated with chromosomal abnormalities, fetal hydrops, and fetal heart failure

Sono findings:

  • Thin walled multiseptated mass at posterior aspect of neck
  • May see nuchal ligament extending posteriorly (outward)
  • May mimic cervical teratoma, encephalocele, cervical meningomyelocele
108
Q

Renal Agenesis

A

Congenital absence of one or both kidneys
Unilateral:
-Very common
-Causes no symptoms and is usually undetected until adulthood
-Associated with SUA
Bilateral:
-Associated with Potter’s syndrome

Sono findings:

  • Severe oligohydramnios between 16-28 weeks stongly suggests renal anomalies
  • Absence of kidneys with “lying down” adrenal glands in renal fossa mimicking kidneys (absence of renal arteries)
109
Q

Multicystic Dysplastic Kidney (MCDK) /Potter’s Syndrome Type II

A

Obstruction of kidney during its development leads to formation of cysts which replace renal parenchyma

Minimal urine formation and cannot be detected early in pregnancy because cysts are not large enough to visualize

Cysts may be large (up to 6 cm) and may be unilateral, bilateral or segmental

Consists of:

  • Bilateral renal agensis
  • Pulmonary hypoplasia
  • Characteristic facies
  • Limb deformities
  • Oligohydramnios
110
Q

Autosomal Recessive Polycystic Kidney Disease (ARPKD)/ Potter’s Type I

A

Inherited disorder characterized by symmetric renal enlargement by multiple cysts

These cysts cause enlargement of total renal size while compressing functioning renal tissue

Sono findings:

  • Enlarged echogenic kidneys due to multiple interfaces of cysts
  • Increased kidney: AC ratio
  • Oligohydramnios
  • Small bladder
  • Kidneys may appear normal in early pregnancy (14-16 weeks)
111
Q

Ureteropelvic Junction Obstruction (UPJ)

A

Most common

Characterized by congenital obstruction of urine flow from renal pelvis into ureter

Anatomic causes:

  • Fibrous adhesions
  • Bands
  • Kinks
  • Ureteral valves
  • Anomalous vessels

Sono findings:

  • Hydronephrosis
  • Dilated renal pelvis
  • Thinning of renal cortex in chronic states
  • No hydroureter
  • Normal amniotic fluid level
112
Q

Posterior Urethral Valve Obstruction (PUV)

A

Congenital folds of the urethra act as valves and obstruct urinary flow

Can cause severe damage to kidneys, ureters, and bladder

Occurs only in males

Sono findings:

  • Massive bilateral hydronephrosis and hydroureter
  • Dilated bladder with “keyhole sign” - dilated bladder and prostatic urethra
  • Moderate to profound oligohyrdamnios
  • Bladder wall thickening
  • Male genitalia identified
113
Q

Considerations for male genitalia

A
  • Undescended testes (normally descended into scrotum by 26-34 weeks)
  • Hydroceles (small are common, large warrant postnatal follow-up)

Abnormal formation of the penis

114
Q

Considerations for female genitalia

A

-Hydrometrocolpos

-Ovarian cysts: usually benign functional cysts that result from maternal hormone stimulation
(resolve spontaneously after birth)

115
Q

Rhizomelia

A

Shortening of the proximal segment of an extremity

-Humerus or femur

116
Q

Mesomelia

A

Shortening of middle segment of an extremity

-Radius/ulna, tibia/fibula

117
Q

Micromelia

A

Shortened extremities

118
Q

Thanatophoric Dysplasia

A

Most common lethal dysplasia

Characterized by extreme micromelia (esp. rhizomelia), bowed long bones, narrow thorax with normal trunk, relatively large head

Sono findings:

  • Cloverleaf skull (Kleeblattschadel)
  • Severely shortened limbs
  • Hypoplastic thorax
  • Platyspondyly
  • Mild hypomineralization
  • Polyhydramnios
119
Q

Achondrogenesis

A

Rare lethal form of short-limbed dysplaisa

Two types:
Type I:
-Autosomal recessive 
-More severe
Type II:
-Autosomal dominant and less severe form

Sono findings:

  • Lack of vetebral ossification
  • Large head, possible with decreased cranial ossification
  • Severely shortened limbs/ micromelia
  • Small chest
  • Polyhydramnios
  • Associated cleft lip/ palate, micrognathia
120
Q

Osteogenesis Imperfecta Type II

A

Disorder of production, secretion or function of collagen

Abnormally fragile bones, which have decreased mineralization, fracture in utero, resulting in severe micromelia and irregularity of the bones

Autosomal recessive

Sono findings:

  • Presence of fractures of “thick” bones due to callus formation
  • Severe micromelia
  • Multiple rib fractures
  • Severe hypomineralization of the skull
  • Small, bell-shaped thorax
121
Q

Campomelic Dysplasia

A

Lethal skeletal dysplasia characterized by short bent/ bowed bones

Most commonly tibia and femurs are affected

Sono findings:

  • “bent” long bones
  • Narrow thorax, and hypoplastic or absent scapulae
  • Associated CNS and renal anomalies
122
Q

Short-Rib Polydactyly Sydrome

A

Rare lethal dysplasia characterized by polydactyly and extremely small thorax

Death results from respiratory insufficiency

123
Q

Polydactyly

A

More than normal number of digits of the hand or foot

124
Q

Clinodactyly

A

Permanent curvature of the 5th digit

Associated with Trisomy 21

125
Q

Syndactyly

A

Fusion of digits, either soft tissue or bony fusion

126
Q

Clubfoot Deformity (Talipes)

A

Abnormal relationship between the tarsal bones and calcaneous

55% of cases are bilateral

Sono findings:

  • Forefoot is orientated in same plane as lower leg
  • Persistent abnormal inversion of foot at an angle perpendicular to lower leg
127
Q

Rocker Bottom Foot

A

Bottom of foot appears “rocker bottom” or convexes outward

Can be associated with trisomy 21

128
Q

Sirenomelia (Mermaid Syndrome)

A

Lower extremity fusion and abnormal or absent foot structures

Sono findings:

  • Oligohydramnios
  • Single femur or two femurs seen side by side
  • Abnormal/absent foot structures
  • Associated with bilateral renal ageneis and skeletal abnormalities
129
Q

Achondroplasia

A

Abnormal cartilage deposits at long bone epiphysis

Most common form

Sono findings:

  • Macrocrania
  • Micromelia
  • Frontal bossing
  • Hypoplastic thorax
  • Ventriculomegaly
130
Q

Single Umbilical Artery (SUA)

A

Most commonly encountered umbilical cord abnormality

May be caused by primary agenesis of umbilical artery or atrophy of normally formed umbilical artery

Associated abnormalities include:

  • GU anomalies
  • Trisomies 18 and 13
  • Cardiovascular anomalies
  • CNS anomalies
  • Omphalocele
131
Q

Nuchal Cord

A

Wrapping of the umbilical cord around the fetal neck

Two or more complete loops of cord around the neck

Color Doppler is useful to demonstrate this

132
Q

Cord Prolapse

A

Umbilical cord protruding through the cervix or adjacent to presenting fetal part

This is an emergent situation

133
Q

Long cord

A

> 80 cm

134
Q

Short cord

A

<35 cm

135
Q

Marginal/ Battledore Insertion of the cord

A

Attachment of the cord at the periphery of the placenta

Cord enters directly into the edge of the placental substance

136
Q

Velamentous Insertion of the cord

A

Attachment of the cord to the membranes rather than to the placental mass

Cord travels beneath the chorion for some distance before attaching to edge of the placenta

May be associated with IUGR, preterm birth and congenital anomalies

137
Q

Chorionic Villus Sampling (CVS)

A
  • Typically performed between 9-12 weeks
  • Can be performed either transcervically or transabdominally
  • Trophoblastic cells obtained with CVS are cultured and karyotyped
  • In cases of chromosomal abnormalities, the diagnosis is made earlier that with amniocentesis
138
Q

Quad Screen

A
Four components:
1) Alpha feto protein (AFP): glycoprotein produced primarily in fetal liver which crosses placenta into maternal serum 
-can easily be detected in routine blood test (MSAFP)
Elevated MSAFP (>/= 2.0-2.5 MoM) can be associated with:
-Incorrect dates
-Multiple gestation
-Open neural tube defects
-Abdominal wall defects
-Placental chorioangioma
-Maternal fetal hemorrhage
-Maternal hepatocellular carcinoma
Decreased MSAFP associated with:
-Incorrect dates
-Chromosome abnormalities
-Fetal demise
2) Human chorionic gonadotropin (hCG)
-Elevated 2 times median value for Down Syndrome
3)Unconjugated estriol (uE3)
-Tends to be lower than normal in Trisomy 21 
4) Inhibin-A 
-Elevated with Down Syndrome
139
Q

Amniocentesis

A

Assist in locating optimal collection site away from:

  • Fetus
  • Umbilical cord
  • Central placenta
  • Uterine vessels

Typically performed around 16 weeks

140
Q

Cordocentesis

A

Fetal blood is aspirated through umbilical cord

141
Q

Gestational Diabetes

A

Hormonal and metabolic changes associated with pregnancy can result in a condition referred to as glucose intolerance of pregnancy

142
Q

Effects of Diabetes on pregnancy

A
  • Caudal regression syndrome
  • Neural tube defects
  • Cardiovascular malformations
  • Genitourinary anomalies
  • SUA
  • GI anomalies
  • Skeletal anomalies
143
Q

Fetal Complications from Diabetic Mother

A
  • Respiratory distress syndrome
  • Hypoglycemia
  • IUGR
  • Macrosomia
  • Hypocalcemia
  • Oligo/ Polyhydramnios (depending on type of fetal anomaly present)
  • Thickened placenta
144
Q

Maternal Complications in Diabetic Pregnancy

A
  • Polyhydramnios
  • Pre-eclampsia
  • Renal dysfunction
  • Hypoglycemia
  • PVD
  • Postpartum hemorrhage
145
Q

Pre-eclampsia

A
  • Hypertension
  • Generalized edema
  • Proteinuria
  • Rapid weight gain secondary to edema
146
Q

Eclampsia

A
  • HTN
  • Edema
  • Proteinuria
  • Convulsions
  • Coma
  • Death
147
Q

TORCH

A
Toxoplasmosis 
Other (syphilis)
Rubella
Cytomegalovirus
-Herpes (genital)
148
Q

Incompetent/Insufficient Cervix

A

Premature dilation and effacement of the uterine cervix

It is the inability of the cervix to prevent the premature expulsion of uterine contents

Sono findings:

  • Shortened cervix ( < 2.5-3 cm) prior to 34 weeks
  • Dilation of cervix > 2 cm in 2nd trimester
  • “Bulging” membranes/ “hourglass sign” are poor prognosis
149
Q

Preterm Labor

A

Defined as the onset of labor before 37 weeks

Causes:

  • Previous uterine surgery
  • Uterine anomalies
  • Maternal stress
  • Heavy cigarette smoking
  • Multiple gestations
  • Polyhydramnios
  • Antepartum bleeding
  • Systemic infections
  • May be idiopathic
150
Q

Premature Rupture of Membranes (PROM)

A

Spontaneous rupture of membranes prior to labor

Clinical sign= large passage of watery fluid from the vagina

151
Q

Uterine Myoma

A

Enlarges during pregnancy due to estrogen stimulation

May obstruct vaginal delivery

Clinical signs:

  • Uterus large for dates
  • Pain or focal tenderness
  • Palpable mass
  • Spontaneous abortion