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Chapter 38 The Fetal Abdominal Wall and Gastrointestinal Tract 1347
UC
O
A
C
B
FIGURE 38-24. Bladder exstrophy. A, Transvaginal
sonogram at 16 weeks shows an abdominal wall defect, located low in the abdomen. The bladder was not visualized. B, Postmor­tem photograph shows bladder exstrophy; UC, umbilical cord. C, Bladder exstrophy (arrow) in a different fetus.
1348 PART IV Obstetric Sonography
FIGURE 38-25. Omphalocele-exstrophy–imperfo-
rate anus–spinal defects (cloacal exstrophy).
T2-weighted MR image of twins. The upper twin was normal with normal amniotic fluid. The lower twin had oligohydramnios with a lower anterior abdominal wall defect (arrow).
CONCLUSION
A wide spectrum of abdominal abnormalities can be detected in utero. Appropriate description of these abnormalities is important to assess for associated struc­tural abnormalities. Since many abdominal abnormali­ties are associated with aneuploidy and syndromes, genetic counseling is important. Follow-up for growth and assessment of interval progression of bowel obstruc­tion in many abnormalities are also important.
Acknowledgments
Many thanks to Aaron and Evan Brown for their valu­able technical support.
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1350 PART IV Obstetric Sonography
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155. Puligandla A, Flageole S, Bouchard E, et al. The significance of intrauterine growth restriction is different from prematurity for the outcome of infants with gastroschisis. Pediatr Surg Int 2004;39: 1200-1204.
156. Calzolari EB, Dolk HF, Milan M. Omphalocele and gastroschisis in Europe: a survey of 3 million births 1980-1990. EUROCAT Working Group. Am J Med Genet 1995;58:187-194.
157. Brantberg A, Blaas H, Haugen S, Eik-Nes S. Characteristics and outcome of 90 cases of fetal omphalocele. Ultrasound Obstet Gynecol 2005;26:527.
158. Henrich KH, Reingruber BH, Weber PG. Gastroschisis and omphalocele: treatments and long-term outcomes. Pediatr Surg Int 2008;24.
159. Blazer S, Zimmer E, Gover A, Bronshtein M. Fetal omphalocele detected early in pregnancy: associated anomalies and outcomes. Radiology 2004;232:191-195.
160. DiLiberti JH. Familial omphalocele: analysis of risk factors and case report. Am J Med Genet 1982;13:263-268.
161. Hamosh A, Amberger J, Bocchini C, et al. Omphalocele. In Online Mendelian Inheritance in Man, 2002, National Center for Biotech­nical Information.
162. Kurkchubasche AG. The fetus with an abdominal wall defect. Med Health R 2001;84:159-161.
163. Falkensammer C, Altman C, Ge S, et al. Fetal cardiac malposition: incidence and outcome of associated cardiac and extracardiac mal­formations. Am J Perinatol 2008;25:277-281.
164. Fox JE, Gloster E, Mirchandani R. Trisomy 18 with Cantrell pental­ogy in a stillborn infant. Am J Med Genet 1988;31:391-394.
165. Bick DM. Trisomy 18 associated with ectopia cordis and occipital meningocele. Am J Med Genet 1988;30:805-810.
166. Cantrell JR, Haller JA, Ravitch MM. A syndrome of congenital defects involving the abdominal wall, sternum, diaphragm, pericar­dium and heart. Surg Gynecol Obstet 1958;107:602-614.
167. Martin RAC, Erickson LC, Jones KL. Pentalogy of Cantrell and ectopia cordis, a familial developmental field complex. Am J Med Genet 1992;42:839-841.
168. Moerman P, Vandenberghe K, et al. Constrictive amniotic bands, amniotic adhesions and limb–body wall complex: discrete disruption sequences with pathologic overlap. Am J Med Genet 1992;42: 470-479.
169. Daskalakis G, Sebire J, Jurkovic D, et al. Body stalk anomaly at 10-14 weeks of gestation. Ultrasound Obstet Gynecol 1999;10: 416-418.
170. Deruelle P, Subtil D, Chauvet M, et al. Antenatal diagnosis of limb– body wall complex. J Gynecol Obstet Biol Reprod 2000;29: 395-400.
171. Evans JA, Vitez M, Czeizel A. Congenital abnormalities associated with limb deficiency defects: a population study based on cases from the Hungarian Congenital Malformation Registry (1975-1984). Am J Med Genet 1994;49:52-66.
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178. Martinez-Frias ML, Bermejo E, Rodriguez-Pinilla E, Frias JL. Exstrophy of the cloaca and exstrophy of the bladder: two different expressions of a primary developmental field defect. Am J Med Genet 2001;99:261-269.
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β-thalassemia-1 in the first and second trimesters. Ultrasound Obstet Gynecol 1999;14:180-182.
184. Pajkrt E, Petersen OB, Chitty LS. Fetal genital anomalies: an aid to diagnosis. Prenat Diagn 2008;28:389-398.
185. Tiblad E, Wilson RD, Carr M, et al. OEIS sequence: a rare con­genital anomaly with prenatal evaluation and postnatal outcome in six cases. Prenat Diagn 2008;28:141-147.
186. Kallen K, Castilla EE, Robert E, et al. OEIS complex: a population study. Am J Med Genet 2000;92:62-68.
CHAPTER 39
The Fetal Urogenital Tract
Katherine W. Fong, Julie E. Robertson, and Cynthia V. Maxwell
Chapter Outline
THE NORMAL URINARY TRACT
Embryology Sonographic Appearance Amniotic Fluid Volume
URINARY TRACT
ABNORMALITIES
Bilateral Renal Agenesis Unilateral Renal Agenesis Renal Ectopia Horseshoe Kidney Renal Cystic Disease
Multicystic Dysplastic Kidney Obstructive Cystic Renal
Dysplasia
Autosomal Recessive (Infantile)
Polycystic Kidney Disease
Autosomal Dominant (Adult)
Polycystic Kidney Disease
Syndromes Associated with Renal
Cystic Disease Hyperechogenic (Bright) Kidneys Simple Renal Cysts
Renal Neoplasm Adrenal Mass Upper Urinary Tract Dilation
Hydronephrosis Ureteropelvic Junction Obstruction Vesicoureteral Junction Obstruction
(Primary Nonrefluxing Megaureter)
Evaluation of the fetal urogenital tract is an integral
part of the obstetric ultrasound examination. Sonogra­phy depicts normal developmental anatomy and allows detection and characterization of many genitourinary abnormalities. In addition, assessment of the amniotic fluid volume often provides important prognostic infor­mation regarding fetal renal function. Accurate and early prenatal diagnosis is important because this may influ­ence obstetric and neonatal management.
Urinary tract anomalies account for 33% of all mal­formations detected by routine prenatal sonography. A systematic sonographic approach is proposed, which includes a search for associated anomalies and detailed evaluation of renal structure and function.
THE NORMAL URINARY TRACT
Duplication Anomalies Vesicoureteral Reflux
Lower Urinary Tract (Urethral)
Obstruction
In Utero Intervention:
Vesicoamniotic Shunting
Bladder Exstrophy
THE GENITAL TRACT
Normal Genitalia Abnormal Genitalia Hydrometrocolpos Ovarian Cysts
pattern, giving rise to the ureter, renal pelvis, calyces, and collecting tubules. Through interaction with the meta­nephric mesoderm, the ureteric bud induces the forma­tion of nephrons. In early embryonic life, the kidneys are located in the pelvis, but they “ascend” to their adult position by the 11th menstrual week. At this gestation, the kidneys start to produce urine.
By the ninth menstrual week, the cloaca (caudal part of hindgut) is divided by the urorectal septum into the rectum posteriorly and the urogenital sinus anteriorly
1
(Fig. 39-1). The urinary bladder, the female urethra, and most of the male urethra develop from the urogenital sinus and the surrounding splanchnic mesenchyme. Ini­tially, the bladder is continuous with the allantois, but this structure soon constricts and becomes a fibrous cord, the urachus, which extends from the apex of the bladder to the umbilicus.
Embryology
The permanent kidney (metanephros) is the third in a series of excretory organs in the human embryo, forming after the pronephros and mesonephros.
2
In the seventh menstrual week, the metanephros begins to develop from two sources: the metanephric diverticulum (ure­teric bud) and the metanephric mass of intermediate mesoderm (Fig. 39-1). The ureteric bud is an outgrowth from the mesonephric duct, near its entrance into the cloaca. It elongates and branches in a dichotomous
Sonographic Appearance
In the first trimester the fetal kidneys are best examined by transvaginal sonography. The kidneys are seen as oval, hyperechoic structures in the paravertebral regions, with a small, central sonolucent area caused by fluid in the renal pelvis
3
(Fig. 39-2, A). By 12 to 13 weeks of gesta-
tion, the kidneys could be visualized in 99% of cases with combined transabdominal and transvaginal sonog-
4
In the second trimester the kidneys often appear
raphy. as isoechoic structures adjacent to the fetal spine on
1353
Urogenital sinus
Mesonephros
Mesonephric duct
Metanephric diverticulum
Urorectal septum
Cloacal membrane
A
Allantois
B
Mesonephric duct
Mesonephros
Metanephric diverticulum (ureteric bud)
Vesical part
Pelvic part
Phallic part
Rectum
C D
Genital tubercle
Mesonephric duct
Mesonephros
Metanephros
Urinary bladder
Ureter
Rectum
Urorectal septum
Urogenital sinus
E F
Mesonephros
Mesonephric duct
Metanephros (primordium of permanent kidney)
Ureter
Gonad
Mesonephros
Metanephros
Ureter
Mesonephric duct
Pelvic part of urogenital sinus
Urachus
Uterine tube
Kidney
Testis
Ureter
Ductus deferens
Clitoris
Kidney
Ovary
Uterus
Vagina
Urinary
bladder
Penis
Spongy
urethra
G H
FIGURE 39-1. Embryology of the urinary tract. Diagrams show division of the cloaca into the urogenital sinus and rectum;
absorption of the mesonephric ducts; development of the permanent kidneys (metanephroi), urinary bladder, urethra, and urachus; and changes in the location of the ureters. A, Lateral view of the caudal half of a 5-week-old embryo. B, D, and F, Dorsal views. C, E, G, and H, Lateral views. The stages shown in G and H are reached by the 12th week. (From Moore KL, Persaud TVN: The developing human: clinically oriented embryology. 7th ed. Philadelphia, 2003, Saunders.)
Chapter 39 The Fetal Urogenital Tract 1355
A
C
FIGURE 39-2. Normal appearance of kidneys at different gestational ages. A, Transvaginal scan at 13 weeks of
gestation in the coronal plane shows normal kidneys (calipers), which appear hyperechoic, with small central sonolucent areas caused by fluid in the renal pelves. B, Transabdominal scan at 19 weeks in the transverse plane shows the kidneys (arrows) as paired isoechoic structures adjacent to the fetal spine. C and D, Longitudinal and transverse scans at 33 weeks show the kidney well outlined by perinephric fat, with normal corticomedullary differentiation. The pyramids (arrowheads) are hypoechoic. There is a small amount of fluid in the central collecting system (black arrow).
B
D
transabdominal sonography (Fig. 39-2, B). As the fetus matures, corticomedullary differentiation becomes more obvious, especially in the third trimester (Figs. 39-2, C
and D). The renal pyramids orient in anterior and pos-
terior rows and are hypoechoic relative to the renal cortex. In the third trimester the renal cortex is isoechoic or slightly hyperechoic to liver and spleen. With fat deposition in the perinephric region, an echogenic border develops, and the kidney becomes better delin­eated. Normal fetal lobations are often visible and give the kidneys an undulating contour.
The kidneys grow throughout pregnancy. Table 39-1 provides a nomogram of renal lengths at 14 to 42 weeks of gestation.
5
The often-quoted rule of thumb that “renal length in millimeters approximates gestational age in weeks” only applies to a narrow gestational age range of 18 to 21 weeks. There are also published charts of renal anterior-posterior diameter, transverse diameter, and volume.
5
Sometimes, it is difficult to define the exact
renal borders, especially at the upper pole, because of shadowing from ribs or poor distinction from the adrenal gland. Fetal breathing can aid in renal visualization. It is also important to avoid using an oblique section through the kidney for measurement. The renal/abdominal circumference ratio remains constant at 0.27 to 0.30 throughout pregnancy.
6
The calyces are not normally visualized, but some fluid is typically seen in the renal pelvis. The highly characteristic renal pelvic echo is often the key to finding the kidneys in the second trimester. Measure­ments of the renal pelvis are discussed in the section on hydronephrosis. The normal ureter is 1 to 2 mm in diameter and is not normally visible.
By using transvaginal sonography, the bladder can be seen as early as 11 weeks of gestation. weeks, the bladder is visualized in 98% of cases using both transabdominal and transvaginal sonography.
3
By 12 to 13
4
The
bladder is thin walled and situated anteriorly in the
1356 PART IV Obstetric Sonography
20 w
TABLE 39-1. RENAL LENGTHS AT 14-42
WEEKS’ GESTATION
Fixed Centiles
WEEK N
14 3 7.5 8.0 9.3 10.8 11.6 15 3 8.8 9.5 11.0 12.8 13.7 16 2 10.2 11.0 12.7 14.8 15.8 17 12 11.6 12.5 14.5 16.8 18.1 18 10 13.1 14.1 16.3 18.9 20.3 19 15 14.6 15.6 18.2 21.1 22.6 20 15 16.1 17.2 20.0 23.2 24.9 21 15 17.5 18.8 21.8 25.4 27.2 22 14 19.0 20.4 23.6 27.4 29.4 23 16 20.4 21.9 25.4 29.5 31.6 24 17 21.8 23.4 27.1 31.5 33.8 25 18 23.1 24.8 28.8 33.4 35.8 26 20 24.4 26.2 30.4 35.3 37.8 27 24 25.6 27.5 31.9 37.1 39.7 28 18 26.8 28.7 33.4 38.7 41.5 29 19 27.9 29.9 34.7 40.3 43.2 30 19 28.9 31.0 36.0 41.8 44.8 31 23 29.9 32.1 37.2 43.2 46.3 32 23 30.8 33.0 38.3 44.5 47.7 33 22 31.6 33.9 39.4 45.7 49.0 34 19 32.4 34.7 40.3 46.8 50.2 35 20 33.1 35.4 41.1 47.8 51.2 36 23 33.7 36.1 41.9 48.7 52.2 37 14 34.2 36.7 42.6 49.4 53.0 38 17 34.7 37.2 43.2 50.1 53.8 39 13 35.1 37.6 43.7 50.7 54.4 40 14 35.4 38.0 44.1 51.2 54.9 41 26 35.7 38.3 44.5 51.6 55.4 42 17 36.0 38.6 44.8 52.0 55.7
From Chitty LS, Altman DG. Charts of fetal size: kidney and renal pelvis measurements. Prenat Diag 2003;23:891-897.
N = Number of fetuses for each week of gestation.
3rd 10th 50th 90th 97th
pelvis. The umbilical (superior vesical) arteries run lateral to the bladder as they course toward the umbilicus (Fig. 39-3). The hourly fetal urine production increases with advancing gestation, from a mean value of 4 to 5 mL/hr at 20 weeks to 52 to 56 mL/hr at 40 weeks.
7,8
Three-dimensional (3-D) ultrasound measurements demonstrate reproducible urine production rates based on bladder volumes, but tend to estimate higher rates in the third trimester compared to the standard two­dimensional (2-D) technique.
volume
increases from a mean value of 1 mL at 20 weeks
9,10
The maximum bladder
to 36 mL at 41 weeks.7 The normal bladder fills and empties (either partially or completely) approximately every 25 minutes (range, 7-43 min). Therefore, changes in bladder volume should be observed during the course of the obstetric sonogram.
Amniotic Fluid Volume
Evaluation of amniotic fluid volume (AFV) provides important information about fetal renal and placental function. Evaluation of AFV is a key component of fetal biophysical assessment. After 16 weeks, fetal urine pro­duction becomes the major source of amniotic fluid.
11
Several methods are used to assess AFV. Subjective assessment can be combined with semiquantitative tech­niques, such as measurement of the largest single pocket (free of umbilical cord and fetal small parts) and amni- otic fluid index (AFI). Intraobserver and interobserver studies have shown that the subjective assessment of AFV by experienced sonographers is reliable.
12
Signifi-
cant oligohydramnios results in compression of the fetus,
12 w
B
A
FIGURE 39-3. Normal urinary bladder. A, Sagittal image of a 12-week fetus. Note normal urinary bladder (arrow). B, Power
Doppler image of the umbilical arteries (arrows) at 20 weeks’ gestation helps in the identification of any questionable fluid-filled structure in the pelvis as the urinary bladder (B).
B