Physical Address
304 North Cardinal St.
Dorchester Center, MA 02124
All ages in this section refer to the menstrual age or gestational age (GA) based on the last menstrual period (LMP) and not the embryonic age based on day of conception. A 4-week pregnancy by the LMP method thus corresponds to a 2-week pregnancy by the conception method. All measurements given in this section are for transvaginal sonography (TVS) unless otherwise stated.
Confirm and date an intrauterine pregnancy (IUP).
Determine fetal number and placentation.
Evaluation for an ectopic pregnancy.
Evaluation of first-trimester bleeding: assess viability
Screening for chromosomal abnormalities.
Screening for increased risk of preeclampsia
Normal IUP
Abortion: impending, in progress, incomplete, missed
Ectopic pregnancy
Subchorionic hemorrhage
Determine fetal number and viability.
Placental evaluation and location
Estimate amount of amniotic fluid.
Assess GA and growth
Fetal survey
Evaluate adnexa and cervix
Fetal presentation (vertex, breech) ( Fig. 10.1 )
Type of placenta
Membranes
Cervical os
Biophysical profile (BPP), growth
Several options exist for early prenatal screening with varying detection rates.
Age and 15–18-week serum screen (“triple screen” or “quad screen”)—detection rate 50%–70%
Age and fetal nuchal translucency (NT)—detection rate 70%–80%
Age, NT, fetal nasal bone length (NB), maternal serum beta-human chorionic gonadotropin (β-HCG), and pregnancy-associated plasma protein A (PAPP-A)—detection rate 95%
AFP is formed by the fetal liver, yolk sac, and gut and is found at different concentrations in fetal serum, amniotic fluid, and maternal serum (MSAFP).
In the normal fetus, AFP originates from fetal serum and enters amniotic fluid through fetal urination, fetal gastrointestinal (GI) secretions, and transudation from membranes (amnion and placenta).
Elevated MSAFP levels occur if there is transudation of AFP into the maternal serum, such as in open neural tube defects (NTDs) (AFP screening has an 80%–90% sensitivity for detection) or in fetal swallowing problems (abdominal wall defect).
MSAFP is best measured at 16 weeks.
False-positive causes of elevated AFP include:
GA 2 weeks ≥ to that estimated clinically
Multiple gestations
Fetal death
In cases of elevated AFP, test for acetylcholinesterase in amniotic fluid, which is present in NTDs.
Normal β-HCG levels correlate with the size of gestational sac until 8th–10th weeks. Thereafter, β-HCG levels decline. Initially, the doubling time for the β-HCG is 2–3 days. Third International Reference Preparation = 1.84 × Second International Reference Preparation.
β-HCG (mIU/mL) a | US | Outcome |
---|---|---|
<1000 | Gestational sac present | Abortion likely |
<1000 | Gestational sac absent | Not diagnostic, repeat |
>1000–2000 | Gestational sac present | Normal pregnancy |
>2000 | Gestational sac absent | Ectopic pregnancy likely |
a Second International Standard. As a general rule, values measured according to the Second International Standard are equivalent to half that of the Third International Standard (e.g., 500 mIU/mL [2IS] = 1000 mIU/mL [3IS]).
Risk Category | AFP | β-HCG | Estriol | Inhibin A |
---|---|---|---|---|
NTD/abdominal wall defect | Increased | Normal | Normal | Normal |
Trisomy 21 | Decreased | Increased | Decreased | Increased |
Trisomy 18 | Decreased | Decreased | Decreased | Normal |
Invasive diagnostic tests: offered in the context of a positive first- or second-trimester screen, major fetal anomalies, or the presence of multiple soft markers of chromosomal abnormality.
Chorionic villus sampling
Amniocentesis
Performed at 15–16 weeks using a ultrasound (US)-guided transabdominal approach. Desquamated cells of amniotic fluid are cultured and then karyotyped. In twin pregnancies, indigo carmine is injected into the amniotic cavity, punctured first to ensure sampling of both cavities. The main complication is fetal loss (1%).
Performed earlier than amniocentesis: 11–12 weeks
Transcervical or transabdominal approach under US guidance
Risk of fetal loss is 1%
Can be measured between 11+0 and 13+6 GA
Measured from inner margin to inner margin
Neck must be in neutral position
Image must be midline (hard palate, nasal bone and hypoechoic diencephalon in view, no zygoma in view)
Fetal head and upper thorax must occupy entire field of view
If nuchal cord is present, mean of measurements above and below are taken
Measurement is used to assign a likelihood ratio (LR) for chromosomal abnormalities (in conjunction with the other aspects of the first-trimester screen). The higher the measurement, the higher the LR and vice versa.
Higher values are associated with:
Chromosomal abnormalities (21, 18, 13), 20%
Cardiac anomalies
Skeletal dysplasia
Presence or absence (or length) may be used between 11+0 and 13+6 in conjunction with other components of first-trimester screen to assign LR for chromosomal abnormalities.
Assessed at midline image as for NT
Should be separate from and brighter than the skin surface echo at the nasal tip
Nasal bone absent in 60%–70% of cases of trisomy 21 (T21) and only 2% of normal fetuses at this GA.
CRL = Crown-rump length
MSD = Mean sac diameter
Fertilization occurs in fallopian tubes.
Oocyte + sperm cell = zygote.
Cleavage occurs in the fallopian tube.
Morula enters the uterine cavity.
Blastocyst implants into the endometrial wall.
Corpus luteum develops from ruptured graafian follicle (usually <2 cm), secretes progesterone, and induces decidual reaction.
Corpus luteum regresses at 10 weeks, when its function is taken over by the placenta.
Amniotic cavity is initially small.
Embryo lies within the amniotic cavity.
Amniotic cavity enlarges and ultimately fuses with the chorion (14–16 weeks).
Yolk sac is located outside the amniotic cavity but within the chorionic cavity; it is connected to primitive gut by the omphalomesenteric duct.
The double decidual sac sign is a useful early sign of IUP. It is based on the demonstration of three layers of different echogenicity:
Decidua parietalis (hyperechoic)
Fluid in the uterine cavity (hypoechoic)
Decidua capsularis (hyperechoic)
The double-bleb sign refers to the presence of an amnion and yolk sac at 5–6 weeks. The embryo lies between these two structures.
Provides nutrients to the embryo until placental circulation is established.
Angiogenesis and hematopoiesis occur in the wall of the yolk sac.
Dorsal part is later incorporated into the primitive gut and remains connected by the omphalomesenteric (vitelline) duct.
A fetal heartbeat should always be detectable if the CRL is ≥7 mm by TVS. Absence of cardiac activity in embryos >7 mm is indicative of fetal demise.
Occasionally, embryonic cardiac activity may be seen before a distinct embryo is visualized.
In patients with threatened abortion, demonstration of cardiac activity is the single most important role of US.
The gestational sac is the implantation product that occurs in the uterus on approximately day 21. At that time the blastocyst is approximately 0.1 mm in size and cannot be seen by US. Normal sacs become visible when they reach 2–3 mm. Measurements:
Normal MSD (mm) + 30 = Days of pregnancy
After the gestational sac has developed, a yolk sac, the fetal heartbeat, and the embryo will become visible.
Age | β-HCG (mIU/mL) | Gestational Sac | Yolk Sac | Heartbeat | Embryo (Fetal Pole) |
---|---|---|---|---|---|
5 wk | 500–1000 | + | – | – | – |
5.5 wk | >3600 | + | + | – | – |
6 wk | >5400 | + | + | + | – |
>6 wk | + | + | + | + |
Order of appearance of structures: gestational sac → yolk sac → embryo (fetal pole) → amnion ( Fig. 10.7 )
β-HCG and MSD increase proportionally until the 8th week (25-mm MSD).
β-HCG doubles every 2–3 days.
β-HCG levels decline after 8 weeks.
Normal MSD growth: 1.1 mm/day
Discordance between MSD and β-HCG indicates an increased probability of demise.
US findings diagnostic of pregnancy failure:
CRL ≥7 mm and no cardiac activity
MSD ≥25 mm and no embryo
Absence of cardiac activity 14 days following previous US showing gestational sac without yolk sac.
Absence of cardiac activity 11 days following previous US showing gestational sac with yolk sac.
US findings suspicious for, though not diagnostic of, pregnancy failure:
CRL <7 mm and no cardiac activity
MSD 16–24 mm and no embryo
Absence of cardiac activity 7–13 days following previous US showing gestational sac without yolk sac.
Absence of cardiac activity 7–10 days following previous US showing gestational sac with yolk sac.
Morphologic abnormalities
Morphologic abnormalities suspicious for pregnancy failure:
Small gestational sac (MSD – CRL >5 mm)
Irregular shape of gestational sac or embryo
Large yolk sac (>7 mm)
Empty amnion
Threatened abortion is a clinical term encompassing a broad spectrum of disease that occurs in 25% of pregnancies and results in true abortion in 50%. It includes:
Blighted ovum
Ectopic pregnancy
Inevitable abortion
Incomplete abortion
Missed abortion
Signs and symptoms of threatened abortion include bleeding, pain, contractions, and open cervix. If a live embryo is identified, predictors of poor outcome are:
Bradycardia (<85 beats per minute [BPM])
Small gestational sac size (if MSD – CRL <5 mm)
Subchorionic hemorrhage (large, > two-thirds of the circumference)
Large yolk sac (>6 mm)
Irregular, crenated, or calcified yolk sac
Abnormal gestational sac location
Irregular sac shape
Absence or thinning of the decidual reaction surrounding the sac
Threatened abortion
Vaginal bleeding with closed cervical os during the first 20 weeks of pregnancy
Occurs in 25% of first trimester pregnancies
50% survival
Inevitable abortion
Vaginal bleeding with open cervical os; an abortion in progress
Incomplete abortion
Retained products of conception causing continued bleeding
Spontaneous abortion
Vaginal bleeding, passage of tissue
Most common in first trimester
No US evidence of viable IUP; ectopic pregnancy must be excluded.
High percentage have chromosomal abnormalities.
Missed abortion
Retention of a dead pregnancy for at least 2 months
Time | Mean (beats per min) |
---|---|
5–6 weeks | 101 |
8–9 weeks | 143 |
>10 weeks | 140 |
The presence of cardiac activity indicates a good but not a 100% chance that a pregnancy will progress to term. There is still a 20% chance of pregnancy loss during the first 8 weeks even if a positive heartbeat is present. During the 9th–12th weeks, the chance of fetal loss decreases to 1%–2% in the presence of a positive heartbeat.
Venous bleeding causing marginal abruption with separation of the chorion from the endometrial lining extending to the margin of the placenta. Usually (80%) occurs in the late first trimester and presents as vaginal bleeding. Prognosis: generally good if there is a fetal heartbeat and bleeding is minimal. Hemorrhage greater than two-thirds of the chorionic sac circumference is associated with more than a two-fold increase in risk of pregnancy loss.
Week | Bleeding (%) | No Bleeding (%) |
---|---|---|
<6 | 35 | 20 |
7–8 | 20 | 5 |
9–11 | 5 | 1-2 |
Associated with marginal separation of placenta
Hypoechoic or hyperechoic blood separates chorion from endometrium
Distinguish from retroplacental bleed and abruption by location and extent of placental involvement
Tubal, 97%
Ampullary (most common)
Isthmus
Interstitial (cornual), 3%
Ovarian, 1%
Cervical (very rare)
Fimbria (very rare)
Incidence: 0.5%–1% of all pregnancies. Triad:
Pain, 95%
Hemorrhage, 85%
Palpable adnexal mass, 40%
Previous ectopic pregnancy
History of pelvic inflammatory disease (PID)
Tubal surgery or other tubal abnormalities
Endometriosis
Previous pelvic surgery
Infertility and infertility treatments
Uterotubal anomalies
History of in utero exposure to diethylstilbestrol (DES)
Cigarette smoking
Intrauterine device (IUD) is not a risk factor but has been associated with ectopic pregnancy because IUD prevents IUP but not ectopic pregnancy.
Serum markers
Normal β-HCG doubling time depends on the age of the pregnancy but on average is 2 days.
Ectopic pregnancies usually have a slower increase in β-HCG than normal pregnancies.
Low levels of β-HCG suggest ectopic pregnancy.
Reduced levels of progesterone P4 suggest ectopic pregnancy.
Culdocentesis
Considered to be positive if >5 mL of nonclotted blood is aspirated; clotted blood indicates that a vessel has been entered; dry tap is nondiagnostic.
Culdocentesis is preferred to detect ectopic pregnancy of <6 weeks; at later time points, US is preferred.
US
Always use TVS. If negative, also perform transabdominal ultrasound (TAS).
Doppler US can be used to detect peritrophoblastic flow.
Uterus
May be normal
Thick decidual cast with no gestational sac ( Fig. 10.11 )
Pseudogestational sac ( Fig. 10.12 )
Fills endometrial cavity symmetrically
May be large
No double decidual sign but rather a single rim of echoes around pseudogestational sac
Extrauterine structures ( Fig. 10.13 )
Free fluid in cul-de-sac (bleeding); may be anechoic or echogenic
Simple adnexal cyst (10% chance of pregnancy)
Complex adnexal mass (95% chance of ectopic)
Tubal ring sign (95% chance of ectopic): echogenic rim surrounding an unruptured ectopic pregnancy
Live embryo outside uterus; 100% specific but only seen in 25%
A normal TVS does not exclude an ectopic pregnancy.
Accepted terminology for positive β-HCG without visualization at US is pregnancy of unknown location
A normal IUP virtually excludes the presence of an ectopic pregnancy. The likelihood of a coexistent ectopic pregnancy is 1 : 7000 in pregnancies with risk factors or 1 : 30,000 in pregnancies with no risk factor.
Heterotopic pregnancy: Presence of an intrauterine and ectopic pregnancy. Associated with assisted reproduction, PID.
Cornual ectopic pregnancy
Symptoms occur later than with ectopic pregnancies in other locations.
Hemorrhage is more severe (uterus more hypervascular, erosion of uterine artery).
Higher morbidity and mortality. Look for complete rim of myometrium around gestational sac.
<5 mm myometrium between sac and external uterine margin
Interstitial line sign: hyperechoic endometrial line abuts but does not surround sac
Cervical ectopic pregnancy
Requires evacuation
Surgery if ruptured or >2.5 cm
Methotrexate
Direct instillation of potassium chloride
If dilatation and curettage planned, uterine artery embolization may be helpful to reduce the risk of bleeding.
Class | Finding | Likelihood of Ectopic Pregnancy (%) |
---|---|---|
1 | Normal IUP | Virtually none a |
2 | Normal or single ovarian cysts | 5 |
3 | Complex adnexal mass, free pelvic fluid, tubal ring | 95 |
4 | Live extrauterine embryo | 100 |
a Likelihood of a coexistent ectopic pregnancy is 1 in 7000 pregnancies; more common with ovulatory induction and in vitro fertilization.
Incidence: 1% of live births.
Dizygotic twins (fraternal), 70%
Independent fertilization of two ova
Always dichorionic, diamniotic; each ovum has its own placenta and amnion. Overall, 80% of twins are dichorionic, diamniotic.
Risk factors:
Advanced maternal age
Family history of twins
Ethnicity (e.g., Nigerian)
Monozygotic twins (identical), 30%
Duplication of single fertilized ovum
May be monochorionic or dichorionic
Independent of maternal age, heredity, and race
Amnionicity: number of amniotic sacs
Chorionicity: number of placentas
Dizygotic twins are always diamniotic, dichorionic (i.e., have two sacs and two placentas). The two placentas may fuse but do not have vascular connections.
Monozygotic twins have different amnionicity and chorionicity depending on the stage of cleavage of the single fertilized ovum.
The amnionicity/chorionicity determines the risk of complications:
Monoamniotic: > monochorionic, diamniotic > dichorionic
Monoamniotic: cord entanglement
Monochorionic: twin-twin transfusion syndrome, twin anemia–polycythemia sequence
Define the presence and number of twins.
Determine amnionicity and chorionicity.
Growth estimation: determine the fetal weight for each twin.
Are there complications or anomalies?
Findings definitely indicating dichorionicity:
Separate placentas
Different fetal sex
Thick (≥2 mm) membrane separating twins in first trimester
Lambda sign: chorion extending into intertwin membrane
Findings indicative of diamnionicity:
Thin membrane in first trimester
Two yolk sacs
In the second trimester, the sensitivity for finding an amnion is only 30%. In 70% of cases, an amnion is present but not visible.
Dichorionicity is easiest to establish in first trimester
Different genders of fetuses always indicates dichorionicity
Failure to identify a separating amnion is not a reliable sign to diagnose monoamnionicity.
Twin peak sign
All twins
Increased incidence of premature labor
Fetal mortality three times higher than for single pregnancy
Neonatal mortality seven times higher than that for single pregnancy
Dichorionic, diamniotic twins
Perinatal mortality, 10%
Monochorionic, diamniotic (MD) twins
Perinatal mortality, 20%
Twin-twin transfusion
Twin anemia–polycythemia sequence
Acardia
Demise of cotwin
Twin embolization syndrome
Structural abnormalities
Monochorionic, monoamniotic (MM) twins
Perinatal mortality, 50%
Entangled cords
Conjoined twins
All the MD complications as well
Only occurs in monochorionic twins (25%). Results from arteriovenous communications in placenta. Very poor prognosis.
Recipient twin
Large twin (increased estimated fetal weight [EFW])
Polyhydramnios
Polycythemia
Fetal hydrops
Donor twin (pump twin)
Small twin pinned to side of gestational sac (decreased EFW) “stuck twin”
Oligohydramnios
Demise of a twin in the early first trimester (<15 weeks) and subsequent resorption of the dead fetus. Risk to the surviving twin is minimal, especially if dichorionic.
Demise of a twin in the second or third trimester and persistence of the dead fetus as an amorphous mass or flattened structure along the uterine margin. Complications: premature labor, obstruction at labor, embolization.
Occurs only in monochorionic twins because they share a common placenta. Demise of one twin leads to passage of thromboplastic material into the circulation of the live twin. Results in thrombosis and multiorgan failure in the live twin and maternal disseminated intravascular coagulation (DIC).
Twin reversal arterial perfusion sequence (TRAPS)
Most extreme manifestation of twin transfusion syndrome
Occurs in monochorionic pregnancy
Reversal of flow in umbilical artery (UA) of the acardiac twin with blood entering via the vein and leaving via the artery
Poor development of acardiac twin above thorax
All fetal structural abnormalities occur with higher frequency in twins (monozygotic > dizygotic). Most defects are not concordant and occur in only one twin. Some abnormalities are secondary to in utero crowding.
Only occurs in MM twins. 75% are females. Prognosis is related to degree of joining and associated anomalies:
Thoracopagus (most common, 70%): thorax is fused
Omphalopagus, xiphopagus: anterior abdomen is fused
Pygopagus: sacrococcygeal fusion
Craniopagus: cranium is fused
There may be an increase in this condition because of more widespread use of ovulation induction and in vitro fertilization techniques. Incidence: 1 in 7000; consider if the patient has previously mentioned risk factors.
Some pathologic entities in this section are described in more detail in Chapter 11 .
A normal cavum septum pellucidum, ventricular atrium (<10 mm), and cisterna magna (2–10 mm) virtually exclude all neural axis abnormalities.
The two most common forms of NTDs are:
Anencephaly (missing cranial vault)
Myelomeningocele (most are associated with Chiari malformation). A normal cisterna magna excludes nearly all cases of myelomeningocele.
Risk reduction of NTDs with supplemental maternal folic acid intake.
Always obtain a four-chamber view and two views of cardiac outflow tracts (left ventricle [LV] → aorta, right ventricle [RV] → pulmonary artery [PA]).
In the four-chamber view, chamber closest to anterior wall is RV.
Bladder and stomach should be visualized by 14 weeks. If they are not seen, rescan the patient in 2 hours: bladder should fill within this time frame. Doppler shows iliac arteries “splayed” by bladder.
Any structure or mass that touches the fetal spine most likely originates from the genitourinary (GU) tract.
Ventricles: <10 mm at atrium
Choroid plexus in atria of lateral ventricles should occupy 60%–90% of atrium. It is easier to see the far field atrium as reverberation artifacts that may obscure near field atrium.
Choroid absent in anterior or occipital horns
Cisterna magna: 4–10 mm
Thalami are in midline
Cavum septum pellucidum
Hyperechoic structures
Choroid plexus
Pia-arachnoid
Dura
Cerebellar vermis
Specular reflections from ventricles
Hypoechoic structures
Brain white matter (WM)
Cerebrospinal fluid (CSF)
Three hyperechoic ossification centers
Posterior ossification centers: two neural arches
Anterior ossification center: vertebral body
Spinal cord is hypoechoic
Failure of midline cleavage of the forebrain:
Alobar form: no cleavage
Semilobar form: partial cleavage
Lobar form: almost complete cleavage
Syntelencephaly or middle interhemispheric variant
Alobar holoprosencephaly
Monoventricle communicates with dorsal cyst
Thin anterior mantle of brain tissue: “horseshoe” or “boomerang”
Fused thalami
No falx, corpus callosum, or septum pellucidum
No brain tissue around dorsal cyst
Semilobar holoprosencephaly
Monoventricle with rudimentary occipital horns
Posterior brain tissue is present (no dorsal cyst).
Fused thalami
Partial falx posteriorly
No corpus callosum or septum pellucidum
Lobar holoprosencephaly
Similar to semilobar, though more formed falx and greater midline hemispheric division
Very difficult to detect prenatally
Syntelencephaly or middle interhemispheric variant
Mild form with abnormal midline connection of cortex anterior to formed falx
Not detectable prenatally
All severe types have:
Absent septum pellucidum and corpus callosum
Thalamic fusion
Associated midline facial anomalies: clefts, cyclopia, hypotelorism
Identification of septum pellucidum essentially excludes holoprosencephaly.
Fused thalami exclude severe hydrocephalus.
Detectable cerebral mantle (horseshoe) excludes hydranencephaly.
Look for midline facial abnormalities (clefts, hypotelorism, cyclopia, proboscis).
Associated with trisomy 13
The normal development of the corpus callosum begins anterior (genu) and progresses to posterior (splenium). Agenesis may be partial (affects dysgenesis posterior aspects) or complete.
The corpus callosum is not visible in complete agenesis.
Colpocephaly
Lateral ventricles are displaced laterally (parallel lateral ventricles).
Enlarged third ventricle expands superiorly (high riding third ventricle).
Angulated frontal horns (coronal view)
Abnormal (sunburst) gyral pattern in interhemispheric fissure is a late feature.
The presence of a cavum septum pellucidum excludes complete ACC.
Common associations include:
Dandy-Walker (DW) syndrome
Holoprosencephaly
Heterotopias
Chiari malformations
Trisomy 18 (T18)
TVS scanning is often helpful for early diagnosis.
Associated with pericallosal lipoma (hyperechoic)
Near-total absence of cerebrum with intact cranial vault, thalamus, and brainstem
Secondary to occlusion of internal carotid arteries (ICAs)
Less severe vascular insult than in hydranencephaly
Cystic lesions are often in free communication with the ventricle and/or subarachnoid cisterns.
Refers to dilated (>10 mm) ventricles (measured at level of atrium). Associated with other anomalies in 75% of cases. Types:
Hydrocephalus (noncommunicating, obstructive > communicating)
Brain atrophy (enough brain tissue developed but it regresses later)
Colpocephaly (not enough brain tissue developed)
Hydrocephalus is the most common CNS abnormality. Causes include:
Obstructive (common)
Spina bifida is the most common cause of hydrocephalus.
Aqueductal stenosis
DW syndrome
Encephalocele
Arnold-Chiari malformation
Nonobstructive (uncommon)
Hemorrhage
Infection: cytomegalovirus (CMV), Toxoplasma (calcification)
Chromosomal abnormality (T21)
Enlarged ventricles (>10 mm)
Dangling choroid plexus in the lateral ventricle
The presence of colpocephaly should prompt search for possible callosal agenesis.
Most common congenital intracranial tumor
Solid and cystic components
Very common between 12 and 24 weeks (second trimester); most resolve by third trimester
Usually multilocular, 5–20 mm; may be bilateral
Look for other markers of T18.
If other markers are present, CPCs increase risk of T18 (consider amniocentesis).
If no other markers present, no further action necessary in normal risk patient.
Cystic space within the pia-arachnoid has a ball-valve communication with the subarachnoid space.
Congenital or acquired (after hemorrhage, infection)
No communication with ventricle.
Must differentiate from cystic teratoma, porencephaly, and arteriovenous malformation (AVM)
Similar imaging features and classification (Papile grades 1–4) to germinal matrix hemorrhage in fetuses born prematurely but different causes. In utero hemorrhage is very common. Causes:
Maternal hypertension (HTN), eclampsia
Isoimmune thrombocytopenia
Maternal hemorrhage
Nonimmune hydrops
Abnormal development of posterior fossa structures characterized by:
Posterior fossa cyst that communicates with the fourth ventricle
Hypoplasia of the cerebellar vermis
Variable hydrocephalus
Variant form does not have enlargement of posterior fossa.
Posterior fossa cyst separates the cerebellar hemispheres and connects to the fourth ventricle.
Absence or hypoplasia of vermis
Other associations
Hydrocephalus
ACC
Congenital heart disease (CHD)
Diagnosis of exclusion; must exclude DW complex.
Anteroposterior (AP) diameter >10 mm
No communication with fourth ventricle
Incidence: 1 : 600 births in the United States. Increased risk (3%) in parents with previous NTD child. Screening: amniotic fluid and MSAFP are increased because of transudation of fetal serum AFP across the NTD. Spectrum of disease:
Anencephaly (most common)
Spina bifida and meningomyelocele
Face and orbits usually intact
Encephalocele (least common)
Complete absence of cranial vault (acrania) and cerebral hemispheres; should be symmetric. Asymmetric absence should raise the suspicion of amniotic band syndrome (ABS).
Angiomatous tissue covers base of the skull
Some functioning neural tissue is nearly always present.
Polyhydramnios, 50%
Should not be diagnosed before 14 weeks of age (skull is not ossified)
Herniation of intracranial structures through a cranial defect. Cephalocele = meninges; encephalocele = brain and meninges. Most defects are covered by skin, and MSAFP levels thus are normal. Location: occipital, 70%; frontal, 10%. Lesions are typically midline. Asymmetric lesions should raise the suspicion of ABS. Prognosis depends on the amount of herniated brain. Mortality, 50%; intellectual impairment, 50%–90%.
Other intracranial anomalies
ABS
Meckel-Gruber syndrome
Extracranial mass lesion (sac)
The sac may contain solid (brain tissue), cystic (CSF space), or both components; absence of brain tissue in the sac is a favorable prognostic indicator.
Bony defect
Lemon sign (skull deformity)
Location: lumbosacral > thoracic, cervical spine. MSAFP is elevated unless the myelomeningocele is covered with skin. Incidence: 0.1% of pregnancies.
Associations (as a result of imbalanced muscular activity):
Clubfoot
Hip dislocations
Spine
Complex mass outside spinal canal
Sac is best seen when surrounded by amniotic fluid.
Sac may be obscured if oligohydramnios is present.
Separation of posterior lamina
Indirect signs
Lemon sign ( Fig. 10.27 ): bifrontal indentation. In 90% of fetuses with spina bifida <24 weeks. In older fetuses (24–37 weeks), lemon sign disappears. Lemon sign is rarely seen in a normal fetus.
Banana sign ( Fig. 10.28 ): represents the cerebellum wrapped around the posterior brainstem secondary to downward traction of the spinal cord as part of Arnold-Chiari malformation
Hydrocephalus, 90%
Most cases of spina bifida are suspected because of head abnormalities (e.g., banana sign).
Spina bifida is almost always associated with a Chiari malformation.
A normal cisterna magna excludes spina bifida.
Spina bifida is the most common cause of ventriculomegaly.
Fluid-filled structures with spokewheel appearance caused by lymphatic malformation. Location: neck, upper thorax. Prognosis depends on size: high incidence of hydrops and in utero death in large lesions. Cystic hygromas in noncervical location do not carry a significant risk of chromosomal anomalies and have a favorable outcome. Amniocentesis is performed in cervical cystic hygromas because of frequently associated syndromes:
Turner, 45XO (most common, 50%)
Trisomies (21, 18, 13)
Noonan syndrome
Fetal alcohol syndrome
Bilateral, posterolateral cystic head and neck masses
Cysts are usually multiple.
Cysts may become very large and extend to thorax.
Generalized lymphedema (nonimmune hydrops)
Cyst multiplicity and intact skull exclude encephalocele.
Anophthalmia: no orbits
Arrhinia: absent nose
Cebocephaly: hypotelorism and rudimentary nose
Cyclopia: usually one eye, with supraorbital proboscis
Ethmocephalus: hypotelorism and proboscis
Facial clefts (lip, palate, or face)
Flattened nose
Hypotelorism: distance between eyes is decreased.
Hypertelorism: distance between eyes is increased.
Macroglossia: large tongue
Micrognathia: small mandible
Nuchal fold thickening (>5 mm)
Proptosis: eye protrudes from skull
Proboscis: cylindrical appendage near the orbits
Single nostril
Holoprosencephaly: cyclopia, ethmocephalus, cebocephaly, clefts, hypotelorism
Cloverleaf skull: proptosis
Craniosynostoses: hypertelorism
Frontal encephalocele: hypertelorism
Median cleft face syndrome: hypertelorism and clefts
Beckwith-Wiedemann: large tongue
T21: nuchal thickening
Cardiac abnormalities are often difficult to detect because of small heart size, complex anatomy, and rapid heart rate (HR). Because cardiac abnormalities may be associated with chromosomal abnormalities (15%–40%), amniocentesis is indicated in all patients with cardiac defects.
Cardiac abnormalities best detected on four-chamber view:
Septal defect–ventricular septal defect (VSD), arteriovenous canal
Endocardial cushion defect
Hypoplastic left heart: absent or small LV
Ebstein anomaly (associated with maternal lithium use): large right atrium (RA) and small RV; tricuspid valve within RV
Critical aortic stenosis: RV < LV. Coarctation: LV < RV
Cardiac abnormalities best detected on outflow tract views:
Tetralogy of Fallot: large aorta overriding a small PA
Transposition of great arteries (TGA): large vessels run in a parallel plane
Truncus arteriosus: single truncal vessel overriding the septum
Pentalogy of Cantrell
Omphalocele
Sternal cleft
Cardiac exstrophy (ectopia cordis)
CVS malformations
Anterior diaphragmatic hernia
Cardiac abnormalities often missed:
Isolated atrial septal defect (ASD)
Isolated VSD
Aortic or pulmonic stenosis
Coarctation of the aorta
Total anomalous pulmonary venous return (TAPVR)
Other detectable abnormalities:
Rhabdomyoma: most common prenatal and neonatal cardiac tumor (commonly associated with tuberous sclerosis).
Endocardial fibroelastosis: markedly echogenic myocardium
Ectopia cordis: heart is outside thoracic cavity
Cardiomyopathy: dilated heart, poor contractility
Diabetes
Infection: rubella, CMV
Collagen vascular disease: systemic lupus erythematosus (SLE)
Drugs: alcohol, trimethadione, phenytoin, lithium
Family history of heart disease
Premature atrial contractions (PACs) are the most common fetal arrhythmia.
PACs and premature ventricular contractions (PVCs) are benign (most disappear in utero).
Supraventricular tachycardia (HR ≥180 BPM) is the most common tachyarrhythmia:
10% incidence in CHD: structural abnormalities uncommon
May lead to hydrops. Treatment is with digoxin or verapamil.
Fetal bradycardia (HR <100 BPM for >10 seconds) usually indicates fetal hypoxia distress.
Fetal heart block: 40%–50% have structural abnormality.
40% incidence in CHD
Associated with maternal SLE
Primary pulmonary hypoplasia (idiopathic)
Secondary hypoplasia:
Bilateral
Oligohydramnios (Potter sequence)
Restricted chest cage (skeletal dysplasias)
Unilateral
Congenital pulmonary airway malformation (CPAM)
Congenital diaphragmatic hernia (CDH)
Hydrothorax
Small thorax
Low thoracic circumference (below two standard deviations [SDs] of normal) is suggestive but not diagnostic of pulmonary hypoplasia.
Fetal lung maturity is most accurately determined by the lecithin to sphingomyelin ratio in amniotic fluid samples (normal ratio >2). The echogenicity pattern of lung is an unreliable indicator of lung maturity.
A type of bronchopulmonary foregut malformation. Usually unilateral, involving one lobe.
Macroscopic types: includes types I and II; cysts >5 mm
Hydrops uncommon
Overall good prognosis
Microscopic type: small cysts with solid US appearance
Hydrops common
Very poor prognosis
Solid or cystic pulmonary mass
Macroscopic type appears cystic (hypoechoic)
Microscopic type appears solid (echogenic)
Mass effect on normal lung determines prognosis:
Pulmonary hypoplasia
Mediastinal shift: impaired swallowing → polyhydramnios
Cardiac compromise
CPAM volume ratio (CVR) measured by US or magnetic resonance (MR):
CPAM volume (length × height × width × 0.52)/head circumference (HC)
CVR ≤1.6 indicates low risk of fetal hydrops
Only the extralobar type is usually detected prenatally.
Intralobar: pulmonary venous drainage
Extralobar: systemic venous drainage
CDH (most common)
Foregut abnormalities
Sternal abnormalities
Well-defined, homogeneous, echogenic mass
Most common location (90%) is left lung base.
May mimic microcystic CPAM
Complications (mass effect on esophagus → impaired swallowing)
Polyhydramnios
Fetal hydrops
90% are on the left side; 95% are unilateral. Mortality: 50%–70% (because of pulmonary hypoplasia). Because of commonly associated anomalies, all patients with CDH should have an amniocentesis.
Chest
Stomach and/or bowel adjacent to heart (key finding) on four-chamber view
Herniation into chest may occur intermittently.
Peristaltic movements in chest
Shift of heart and mediastinum
Abdomen
Absent stomach in abdomen
Small abdominal circumference (because of herniation of organs into chest)
Other
Polyhydramnios (impaired swallowing)
Always look for associated anomalies (anencephaly is most common).
Anterior and middle mediastinum
Teratoma
Cystic hygroma
Normal thymus
Posterior mediastinum
Neurogenic tumors
Enteric cysts
Fetal hydrops
Underlying chest mass (congenital cystic adenoid formation [CCAM], CDH, sequestration)
Chromosomal anomalies (21, Turner): consider karyotyping
Infection
Idiopathic
Pulmonary lymphangiectasia
Chylothorax
10% resolve spontaneously
May require thoracentesis or thoracoamniotic shunt if large and recurrent.
Crescentic fluid around lung (“bat-wing appearance”)
Become a Clinical Tree membership for Full access and enjoy Unlimited articles
If you are a member. Log in here