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72
T. Yang et al.
a
b
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Fig. 2.72 Holoprosencephaly. (a). Typical ultrasonic imaging. (b, c). Combined hypotelorism
bilateral and keep existing or growing, further chromo­some examination should be performed (Fig.2.73).
3. Arachnoid cyst and congenital porencephaly: Arachnoid
tures like brain middle or hydrocephalus. Most of them are discovered until the middle or third trimester.
Intracranial tumors can be lethal. cysts represent round or irregular anechoic cystic areas in the brain with thin and smooth cystic walls. The cyst is not connected to the lateral ventricle. The prognosis is poor if the cyst keeps growing or is associated with other malformations, and further chromosomal examination should be performed. Congenital porencephaly is charac­terized by one or more irregular cystic anechoic areas in the fetal brain. The cyst is connected to the lateral ven­tricle and may accompany with hydrocephalus. It is extremely rare (Fig.2.74).
4. Dandy-Walker syndrome: Sonography shows the com­pletely absent cerebellar vermis and the two separated cerebellar hemispheres. The posterior cranial fossa and the fourth ventricle are enlarged and communicated with the posterior cranial fossa. Dilated lateral ventricles can be found in some cases (Fig.2.75).
5. Intracranial tumor: Intracranial tumor is extremely rare. Teratoma is the most common intracranial tumor. It often occurs in the tentorium. The tumor may result in com­pression and displacement of normal intracranial struc-
2.5.1.3 Special Tips
1. The majority of the fetal central nervous system malfor­mations have a poor prognosis, such as anencephaly, severe hydrocephalus, encephalocele, meningocele, spina bida, and myelomeningocele. The neonates usually die a few hours after birth. Pregnancy should be terminated immediately after a conrmed diagnosis.
2. Fetal neurological abnormalities have the risk of recur­rence. Those who had already given birth to a fetus with neural tube defects have a risk of recurrence at about 5%. Moreover, the recurrence risk of those who had two chil­dren with neural tube defects is 10%. The recurrence risk is 15% to 20% for those who have had three such chil­dren. Pregnant women with high-risk factors should be examined multiple times at different gestational weeks.
3. Half of the patients who suffer from anencephaly, exen­cephaly, or hydrocephalus are often associated with spina bida or other malformations. Be careful and patient when scanning the spine and other areas of the fetus.
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2 Application ofDiagnostic Ultrasound inthePerinatal Period
Fig. 2.73 (a). The unilateral fetal choroid plexus cyst usually disappears spontaneously after 26weeks of gestation. (b). Bilateral choroid plexus cysts should be observed regularly. If it does not vanish after 26weeks of gestation, a chromosome examination should be performed
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Fig. 2.74 Arachnoid cyst and congenital porencephaly. (a). Arachnoid cysts appear as sharply dened cystic lesions with thin and smooth cys­tic walls. The surface of the cyst is often attached to the endocranium
directly. (b). Congenital porencephaly appears as an asymmetric cere­bral hemispheric cavity
4. When the fetal posterior fossa effusion is larger than
1.2cm, regular surveillance, and follow-up by sonogra­phy are suggested. Be cautious about diagnosing micro­cephaly, only cases that the fetal growth values such as BPD and HC below more than three standard deviations from the normal values of the same gestational age should be highly suspected after regular dynamic measurement. Attention should be paid to the small measurement value of fetal head due to the particular head shape and parental genetic factors (Fig.2.76).
5. It is essential to improve the ultrasonic accuracy of fetal malformation in the early diagnosis. The doctor who is engaged in ultrasonic diagnosis should remember all kinds of anatomical and sonogram features in different developing stages of the fetus. The technique of scanning should be programmed and standardized to avoid missed
Fig. 2.75 Dandy-Walker syndrome. The posterior fossa cyst is com­municated with the fourth ventricle. And the third ventricle is enlarged
diagnosis and misdiagnosis. Choose further relevant
74
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Fig. 2.76 It must be cautious to make the diagnosis of hydrocephalus when fetal lateral ventricle is less than 1.0 cm and fetal posterior fossa effusion below 1.5 cm. (a) The width of the lateral ventricle is 1.08 cm. (b) This image shows the mild enlarged cisterna magna
T. Yang et al.
laboratory tests according to the actual situation, such as karyotype analysis and percutaneous umbilical blood sampling.
6. Ultrasonic result is affected by fetal position or maternal factors. Undertake the examination after the fetus or the pregnant women is properly promoted. Be patient and careful during the examination. Pregnant women are sug­gested to review regularly when suspicious lesions in a system or part of the fetus cannot be conrmed immedi­ately. The decision should be taken after consultation by two or more physicians or transfer to the superior hospital for conrmation.
7. Pay attention to multi-section scanning of the fetal head and spine and avoid missing small encephalocele or meningocele.
fetuses may be associated with chromosomal abnormali­ties, and the risk of developing trisomy 21 syndrome (Down’s syndrome) is signicantly increased. A few abnormalities are related to genetic factors, such as con­genital megacolon.
As a result of fetal deglutition and functional disorders of digestion, absorption, and so on, digestive tract malforma­tions are often associated with polyhydramnios. Pregnant women present with abdominal distension, chest tightness, and inability to lie on the back. Congenital esophageal atre­sia often coexists with tracheoesophageal stula, which is changeling to diagnose prenatally. The neonate may have a cough and cannot eat. The diagnosis is conrmed after fur­ther examination.
Ultrasound has a certain value in the diagnosis of diges­tive tract malformations. The prognosis of simple gastroin­testinal stenosis or obstruction relates to the associated
2.5.2 Gastrointestinal Abnormalities oftheFetus
deformities. Some of these simple deformities can be cor­rected by surgical treatment. Gastrointestinal dysplasia with other abnormalities or chromosomal abnormalities has a
2.5.2.1 Basic Concepts
poor prognosis. Fetal gastrointestinal malformation, a common congenital malformation, includes esophageal atresia and stenosis, duo-
2.5.2.2 Ultrasonic Diagnosis
denum stenosis and atresia, intestinal atresia and stenosis, and colon atresia and stenosis. The formation of such defor­mities may be related to the following reasons: the esopha­gus forming different types of blind ends during the development of laryngopharyngeal tracheal fold in embryo; the blocked or incomplete vacuolization of esophagus and intestine; embryonic mesenteric blood supply or the disor­dered vacuolization of the midgut.
In cases of esophageal atresia, duodenal stenosis, or atresia, some are accompanied by other congenital mal­formations. Among them, cardiac defect is the most com­mon one, followed by gastrointestinal malformation, urinary malformation, and skeletal deformity. Some
Esophageal Atresia
1. Esophageal atresia is highly suspected if no stomach bub­ble in the abdominal cavity is found, or the stomach bub­ble is very small with polyhydramnios after 18–20weeks of gestation (Figs.2.77 and 2.78).
2. In the case of partial esophageal atresia, the upper esoph­agus represents the anechoic cystic area. After 26weeks, the fetal swallowing motion is visible under ultrasound, and the anechoic cyst is evident in the coronal section of the fetal neck, whose size changes with the swallowing.
3. Esophageal atresia often accompanies congenital heart malformation and chromosome abnormality.
2 Application ofDiagnostic Ultrasound inthePerinatal Period
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a
b
c
Fig. 2.77 Esophageal atresia. (a, b). The image shows no stomach bubble in the abdominal cavity with polyhydramnios at 28weeks of gestation. Fetal echocardiography shows an atrial septal defect. (c). An
a
Fig. 2.78 Small fetal stomach bubble. (a). The image shows the diameter of gastric bubble is only 1.18cm with polyhydramnios at 26weeks of gestation. (b). The same patient was reviewed 3weeks later, the diameter of gastric bubble is 2.0cm and the digestive tract is normal after birth
absent stomach bubble with polyhydramnios at 35weeks of gestation. The fetus died from digestive tract atresia after birth
b
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T. Yang et al.
Duodenal Stenosis or Atresia
1. The classic “double bubble” sign appears as two similar anechoic masses in the transverse view of the fetal abdo­men, representing the expended stomach and duodenum. The bubble at the left upper abdomen and inferior to the heart is gastric bubble, and the bubble at the right lower side of liver is the expended duodenum (Fig.2.79).
2. Adjust the direction of the probe and the connection between the two bubbles can be found (Fig.2.80).
3. It is often accompanied by hydramnion. The degree of hydramnion and the occurrence time are related to the severity of duodenal obstruction.
Jejunoileal Stenosis or Atresia
1. The section of the middle and lower abdomen of the fetus demonstrates multiple anechoic areas in the abdominal cavity, which are persistent with peristalsis. The lower the atresia, the more dilated the jejunoileal (Fig.2.81).
2. The small intestinal diameter is dilated more than 7mm, and the diameter gradually increases during multiple examina­tions, indicating the small intestinal obstruction (Fig.2.82).
3. Ultrasonography shows signicantly enhanced intestinal peristalsis, with fetal ascites. Most of the cases are accom­panied by hydramnion (Fig.2.83).
Colon Stenosis or Atresia
1. The expended colon in the middle and lower fetal abdo­men, which is more than 1.8 to 2.0cm in diameter, increases with the gestational age. The expended colon appears like a multilocular cyst, with an irregular shape. Duplicature is visible on the inner wall of the dilated bowel (Fig.2.84).
2. The fetal lower bowel in pelvic dilates is in a “V” or “U” shape in anal atresia cases. Fetal anal atresia should be highly suspected if there is an apparent half-septum in liquid area of the expended bowel (double leaf sign).
3. It often combines with hydramnion.
a
b
c
Fig. 2.79 Duodenal stenosis or atresia I. (a–c). The transverse section of the fetal abdomen shows two sonolucent bubbly anechoic areas, com- bined with hydramnion
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2 Application ofDiagnostic Ultrasound inthePerinatal Period
Fig. 2.80 Duodenal stenosis or atresia II. (a, b). After adjusting the probe, the connection between the stomach bubble and dilated duodenum is visible
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Fig. 2.81 Jejunoileal stenosis or atresia I. (a, b). The images show the fetal dilated small intestine, like a “honeycomb” appearance
Other Rare Fetal Intestinal Abnormalities
1. Megacolon: The bowel expands obviously in ultrasound. It is difcult to diagnose by ultrasound if there is no sig­nicant expansion of the bowel. Take it seriously if there is positive family history.
2. Meconium ileus: It is rare. The echo of intestine is signi­cantly enhanced, similar to the echo of bone. The bowel above the obstruction dilates (Fig.2.85).
by posterior shadow. Most of them will disappear after birth (Fig.2.86).
2. Liver tumor: Liver tumors of the fetus are rare. The most common liver tumors in literature are hepatic cyst, hepatic hemangioma, hepatoblastoma, hepatic hamartoma, and so on. The echo of the hepatic tumor can be cystic, solid, or mixed. The boundary of the mass is generally clear with regular and orderly mar­gins. Hepatic hemangioma and hepatoblastoma can
Space Occupying Lesions ofLiver
1. Intrahepatic calcication: Antenatal ultrasound shows a strong echo in the liver, and the big ones are accompanied
lead to the enlargement of the liver. The echo of the tumor is chaotic, with abundant blood ow under CDFI (Figs.2.87 and 2.88).
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T. Yang et al.
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b
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Fig. 2.82 Jejunoileal stenosis or atresia II. (a–c). The fetal bowel is dilated, with more than 2.0cm in diameter, and septum is visible in the cavity
Fig. 2.83 Fetal ascites. (a). A large amount of ascites in abdominal cavity on the sagittal section. (b). The extremely distended abdomen
ab
2 Application ofDiagnostic Ultrasound inthePerinatal Period
79
a
b
c
Fig. 2.84 Colon stenosis or atresia. (a–c). Septal or lobulate cystic masses in the lower fetal abdomen, most of which are colonic atresia or stric- ture and anal atresia
Fig. 2.85 Meconium ileus. (a, b). The involved bowel is dilated, and the bowels below are hyperechoic
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Fig. 2.86 Intrahepatic calcication of fetus
T. Yang et al.
2.5.2.3 Special Tips
1. Note that the fetal bowel can be segmental hyperechoic in the third trimester of pregnancy, 1.8–2cm in diameter, or hyperechoic clumps in the intestine with different sizes and no echo attenuation. It can disappear after birth and is easy to be misdiagnosed as intestinal abnormalities (Fig.2.89).
2. Intestinal dilatation should be distinguished from dilated ureteral and intraperitoneal cysts. Colon dilatation often occurs in the third trimester, which should be distin­guished from the fetal bladder, renal cyst, and abdominal cyst. Change the scanning angle of the probe for further diagnosis (Fig.2.90).
3. Irregular transverse section of the abdomen should be avoided. When the stomach and bladder, or the stomach
a
b
c
Fig. 2.87 Liver tumor. At 26weeks of gestation, the ultrasound revealed a solid lesion in the liver with a diameter of about 5.0cm. (a). The sagittal view of the liver tumor. (b). The transverse view of the liver tumor. (c). CDFI shows the blood ow in the mass
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2 Application ofDiagnostic Ultrasound inthePerinatal Period
Fig. 2.88 The image shows a solid liver tumor, which is the postopera­tive specimen of the same fetus in Fig.2.87
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and uid-containing intestines are showed in the same section, it is similar to the “double bubble” sign (Figs.2.90 and 2.91).
4. Anal atresia and megacolon are lack of specicity. The anal atresia cannot be completely excluded when there is no signicant intestine dilatation in ultrasound.
5. Even if there is a standard size stomach bubble in the fetal abdominal cavity, esophageal atresia with tracheoesopha­geal stula cannot be wholly excluded.
2.5.3 Fetal Gastroschisis (Anterior Abdominal
Wall Defect)
2.5.3.1 Basic Concept
1. At 6–10weeks of the pregnancy, the digestive tract grows faster than the abdominal cavity and abdominal wall,
Fig. 2.89 Bowel of fetus. (a, b). The images show a strong echogenic mass in the fetal bowel at 38weeks of gestation. There is no digestive tract abnormality after birth
Fig. 2.90 Cystic lesions in abdominal cavity. (a). Fetal renal cysts. (b). The dilated bowel. We should pay attention to the distinction between the two diseases