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Doppler Ultrasound in the Diagnosis of Fetal Anomalies

Fetal Cardiac Malformations

Figure 11.6 shows the color-coded display of a normal heart with intact septum. Since display of blood flow will show changes such as even very small septal de-
Fig.
fects ( reliable definition of structural anomalies of the fetal heart (Fig. 11.7) in almost all cases between the 18th and 32nd week of gestation. The nature of gray-scale B-mode imaging does not allow such a display.
Fetal echocardiography is indicated when:
There is a family history of another child or one
A history of maternal disease or pharmacological or
2
Monitoring of the pregnancy reveals a pathological
The cardiac rhythm is irregular.
11.8), Doppler ultrasound makes possible a
parent having been or currently being affected with a cardiac anomaly, since there is said to be a some­what increased risk of familial repetition;
teratogenic substance use increases the fetal risk for cardiac anomalies;
condition such as fetal malformations, hydrops fetalis, or oligohydramnios or polyhydramnios;
Fig. 11.6 Color display of the heart. An intact septum is seen between the two chambers.
114
Fig. 11.7 Color Doppler sonogram of the heart. An ectopic heart can be seen.
Fig. 11.8 Color sonographic display of a very small septal de-
fect.

Malformations of the Gastrointestinal Tract and the Abdominal Wall

Abdominal wall defects include primarily omphalocele and gastroschisis. The significance of the differential diagnosis lies in the fact that omphalocele is associated with chromosomal aberrations relatively often (up to 50%, depending on the study cited), while there is no such association aggregation for gastroschisis. Addi­tionally, the morbidity is different in the two malfor­mations, so that it is even more important to differen­tiate between the two for the management of the preg­nancy. Omphalocele features a hernial sac, the defect is in the midline, and the origin of the umbilical cord lies
11.9). By contrast, a gastroschisis has
in the hernia (
Fig.
blubber
no hernial sac, lies most often laterally to the right of the midline, and the origin of the umbilical cord is not included in the malformation (Fig. 11.10). Determining the site of insertion of the umbilical cord by color Dop­pler sonography can therefore contribute materially to distinguishing between the two malformations.
To date color Doppler ultrasound cannot contribute to the diagnosis of obstructions of the gastrointestinal tract. However, since color-coded Doppler is not exclu­sively concerned with blood flow, but can detect any form of movement eliciting a frequency shift, it can document increases in intestinal peristalsis (
Fig. 11.11).
Malformations of the Gastrointestinal Tract and the Abdominal Wall
Fig. 11.9a Color Doppler display of a part of the umbilical cord running within an omphalocele.
Currently it remains unclear whether in the future Doppler ultrasound can improve the differential diag­nosis of uterine perforation.
Changes in the liver that appear as cysts in a gray­scale B-mode image are more easily evaluated by color Doppler ultrasound, since, analogously to the findings in the brain, the structures can be examined for blood
11.12a, b).
perfusion to see if they are indeed cystic (
Fig.
Tumors such as hemangiomata or intra-abdominal aneurysms (Fig. 11.13) can for one thing be recognized as such, and for another—in the case of hemangio­mata—be better ascribed to specific areas of the liver.
Fig. 11.9b Color Doppler reveals that the umbilical cord is in­serted within the omphalocele.
Obstetric Applications of Doppler Ultrasound
Fig. 11.10 Free intestinal coils in a gastroschisis. The umbilical cord bypasses the intestinal coils and is inserted in a typical site directly on the abdominal wall.
pler.
115
Fig. 11.11 Display of intestinal hyperperistalsis by color Dop-
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Doppler Ultrasound in the Diagnosis of Fetal Anomalies
2
Fig. 11.12 a Gray-scale sonography displaying cystic structures in the liver.
Fig. 11.12 b Color Doppler identifies these as engorged blood
vessels.
Fig. 11.13 Display of an aneurysm in the course of the intra-
abdominal part of the umbilical vein.
116

Anomalies of the Urogenital System

The evaluation of the amniotic fluid is an important di­agnostic task, since in the second trimester amniotic fluid reflects the performance of the kidneys. In the case of a diagnosis of anhydramnios the conclusion must be that kidney function is absent bilaterally, which makes the prognosis for the fetus extremely poor, considering that hypoplasia of the lungs must then also be expected (Potter syndrome, oligohydram-
11.14). As a rule anhydramnios can
nios sequence) ( only be evaluated satisfactorily by color Doppler sono­graphy, since in the gray-scale B-mode image coils of umbilical cord are often misinterpreted as pools of amniotic fluid.
Even the direct evaluation of the kidneys themselves
is simplified in selected cases. Thus, the demonstration
Fig.
blubber
of an intrauterine renal aplasia succeeds only if the ab­sence of the renal aa. can be displayed by color Doppler
Fig. 11.15).
(
In hydronephrosis the evaluation of the Doppler spectrum, analogous to that of hydrocephalus, can pro­vide some indication of renal function, since the in­trarenal pressure can be derived from the Doppler waveform( are required to confirm this.
The diagnosis of tumors of the urogenital system can be simplified by color Doppler ultrasound, since dis­play of their blood supply allows conclusions to be drawn regarding their malignancy, and their topo­graphic allocation is more successful (Figs. 11.18,
11.19).
Figs. 11.16, 11.17). However, relevantstudies
Anomalies of the Urogenital System
Fig. 11.14 Display of the perfusion of a very large and mal-
formed kidney, perhaps a Potter III polycystic kidney.
Fig. 11.16 Severe hydronephrosis on one side and normally perfused kidney on the other.
Fig. 11.15 Failure to display the renal arteries provides evi­dence of renal agenesis.
Obstetric Applications of Doppler Ultrasound
Fig. 11.17 The aorta and iliac bifurcation are displayed. There is no evidence of renal arteries in the presence of bilateral hy­dronephrosis. The conclusion is that the pressure in the kidneys is relatively high.
middle abdomen of the fetus. Color Doppler ultrasound de­monstrates that this structure receives no blood and may corre­spond to a blood-filled ovarian cyst.
blubber
Fig. 11.18 A hypoechoic structure can be seen in the lower and
117
Doppler Ultrasound in the Diagnosis of Fetal Anomalies
2
Fig. 11.19 a Display of the intra-abdominal part of the umbili­cal arteries coursing around the urinary bladder.

Coccygeal Teratomata

Teratomata of the coccyx may contain cystic or solid portions of various extents and their vascularization especially may vary. Among other features the progno­sis of the malformation depends on its composition and perfusion. Here the introduction of a color Doppler adds several decisive diagnostic advantages, since for one thing it is especially powerful in clarifying the
Fig. 11.19 b The same arteries with ascites.
Figs.
vascularization of the teratoma ( for another it can determine if the volume load has led to cardiac insufficiency and the extent of its severity.
Coccygeal teratomata also indicate the need to search for other anomalies, since this abnormality often accompanies associated malformations and also chromosomal aberrations.
11.20,11.21), and
118
Fig. 11.20 Coccygeal teratoma, with relatively little perfusion in this color display.
blubber
Fig. 11.21 Coccygeal teratoma with markedly better perfusion
than in
Fig. 11.20.

Placenta

Malformations of the Umbilical Cord

Because of the capability of Doppler ultrasound, ex­amination of the placenta does not play as great a role as before its introduction. Calcification of the placenta is no longer given the same significance as formerly,

Hydrops Fetalis

Doppler sonographic evaluation of the fetal heart con­tributes decisively to the diagnosis of hydrops fetalis.
When cardiac insufficiency can be demonstrated, extra

Anhydramnios

As explained in the section on renal anomalies, B­mode imaging cannot always distinguish between oligohydramnios and anhydramnios, since coils of the umbilical cord may simulate small amounts of amni­otic fluid. Only color Doppler examination can identify the coils of umbilical cord with certainty (Fig. 11.22).
This can be an important factor in the prognosis for the
11.23).
pregnancy (
Fig.
since Doppler sonography can determine the condition of the fetus, and consequently clarify the effect of the placental calcification.
strain on the heart by increased blood volume may be assumed.
Obstetric Applications of Doppler Ultrasound
Malformations of the Umbilical Cord
Malformations of the umbilical cord include the ab­sence of one artery, where only two umbilical vessels exist, tumors, and aneurysms of the cord. Doppler ul­trasound can be helpful but is not essential in the diag­nosis of all three malformations. The absence of one umbilical a. is easily identified in the B-mode image, since in the cross section of the cord only two lumens are displayed. In such cases using the color Doppler may even lead to a misdiagnosis, since in a normal three-vessel umbilical cord the two arteries may be er­roneously seen as one, due to over-regulation if the
blubber
Fig. 11.22 A definitive diagnosis of anhydramnios rather than oligohydramnios can only be made by color Doppler ultra­sound, as on a gray-scale image coils of the umbilical cord can resemble small hypoechoic pools of amniotic fluid.
velocity of the color Doppler is not set in the optimal range.
Color Doppler examination can be very helpful in the differential diagnosis of aneurysms, cysts, and tumors, since it can demonstrate blood flow in an aneurysm,
Fig.
and exclude it in a cyst or tumor (
Beyond this color Doppler sonographic display of the umbilical cord can also facilitate the clarification of cord changes in feto−fetal transfusion syndromes (FFTS), in multiple pregnancies (Fig. 11.25), and in the diagnosis of a cord looped around the neck (Fig. 11.26).
11.24).
119
Doppler Ultrasound in the Diagnosis of Fetal Anomalies
Anhydramnios
2
Display of kidneys by abdominal and
vaginal ultrasound
Color Doppler ultrasound
of renal aa.
Renal agenesis
a
Doppler ultrasound of umbilical a.,
arcuate aa./uterine aa. (color)
+
+
Ultrasound morphology Karyotype Amniotic rupture?
Normal Abnormal
Amnion filling
Perfusion impaired, but possibility of triploidy, trisomy 13/18
120
b c
d e
Fig. 11.23a−e Algorithm of procedures and typical findings in anhydramnios.
a Algorithm of diagnostic procedures for anhydramnios. b Color Doppler ultrasound display of renal aa. and aorta with
bifurcation. c Bladder displayed by color Doppler sonography. Minimally filled bladder between the umbilical arteries.
d Aorta with absent renal arteries in renal agenesis displayed
by color Doppler sonography.
e Potter syndrome: Bilateral renal agenesis. Aortic bifurcation showing hypoplastic right common iliac a. and hypoplastic adrenals in the renal bed.
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Doppler Ultrasound Diagnosis of Malformations in Early Pregnancy

Fig. 11.24 Tumor of the umbilical cord. Color Doppler displays
the vessel running through the tumor.
Fig. 11.26 A triple loop of the umbilical cord displayed by color Doppler.
Fig. 11.25 Display of the communicating vessel running from umbilical cord to umbilical cord in twin-to-twin transfusion syn­drome (TTTS).
Doppler Ultrasound Diagnosis of Malformations in Early Pregnancy
Indications for Doppler sonography in early pregnancy must be strictly limited, since a biological effect of color Doppler sonography in early pregnancy cannot be ruled out. However, the procedure simplifies diag-
nosis in two important malformations, namely in the demonstration of conjoined twins (Fig. in a twin pregnancy with one acardius (Fig. 11.28,
11.29).
Obstetric Applications of Doppler Ultrasound
11.27a, b) and
Fig. 11.27 Conjoined twins. a Twin pregnancy displayed in gray-scale. The display shows a
common trunk.
blubber
b Color Doppler is able to demonstrate in early pregnancy that the two infants have a common heart.
121
Doppler Ultrasound in the Diagnosis of Fetal Anomalies
a
Fig. 11.28 Twin pregnancy with an acardius. a Color Doppler can display the vascular link
2
b
b Spectral Doppler demonstrates blood flow in the acardius.
Fig. 11.29 Acardius in the 20th week of gestation. Color Dop­pler shows reverse flow in the aorta.
122
blubber

12 Multiple Pregnancy and Doppler Ultrasound

Multiple pregnancies are one of the indications for Doppler ultrasound in obstetrics that are included in many guidelines, especially when there is discordant
growth of the infants.
Simple monitoring methods used successfully for single fetuses, such as inspection, palpation, fundal height, abdominal girth, etc., fail to provide informa­tion about an individual infant in a multiple pregnancy. For this reason ultrasound techniquessuch as cardioto­cogram (CTG), ultrasound, Doppler ultrasound, and color Doppler ultrasound are indispensable aids when multiple pregnancies are being monitored.
The more closely the multiple fetuses are linked, the more important becomes the use of biophysical methods. In the case of dichorionic multiple fetuses
ig.
F
12.1) constrictions in nutritional supply are the
( primary problem because they may result in discor­dant or restricted growth. In monochorionic multiple
pregnancies additional problems arise with com­munications between the fetal circulations such as a twin-to-twin transfusion syndrome (TTTS), (feto−fetal transfusion syndrome [FFTS]) or twin reversed arterial perfusion (TRAP). Finally, in monoamniotic twins
Fig. 12.2) complications play an important role. This
( chapter will only briefly refer to the special morpho­logical and functional problems of conjoined twins.
Doppler ultrasound is part of the risk assessment in the second half of pregnancy. Discordant growth is a specific indication during this time, beside the indica­tions arising during singleton pregnancies. In the author’s opinion every twin pregnancy, but especially every monochorionic twin pregnancy, should in itself be an indication for Doppler ultrasound examination. The reasons for this will be clear by the end of this chapter.
Obstetric Applications of Doppler Ultrasound
Fig. 12.1 Display of a dichorionic twin pregnancy. Fig. 12.2 Display of a monoamniotic twin pregnancy.
blubber
123