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Prenatal Ultrasound Diagnosis of Fetal Urogenital Anomalies 1Ana Tikvica Luetic, 2Asim Kurjak

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Prenatal Ultrasound Diagnosis of Fetal Urogenital Anomalies 1Ana Tikvica Luetic, 2Asim Kurjak DSJUOG Prenatal Ultrasound Diagnosis10.5005/jp-journals-10009-1476 of Fetal Urogenital Anomalies REVIEW ARTICLE Prenatal Ultrasound Diagnosis of Fetal Urogenital Anomalies 1Ana Tikvica Luetic, 2Asim Kurjak ABSTRACT Additionally, these disorders predispose an individual Congenital urogenital anomalies constitute approximately 20 to to many other complications, such as ureteral obstruction, 30% of all malformations identified in the antenatal period. Since stone formation, infection, hypertension, renal failure, and fetal urogenital malformations are a significant cause of neonatal cardiovascular disease throughout life. Although congeni- and child morbidity and mortality, the necessity of providing the tal anomalies of the urinary and genital tracts are a part of correct diagnosis for the parents and professionals involved in many known syndromes, nonsyndromic cases are prob- the management should be of great priority. ably caused by single-gene defects and are more common Here, we present a review of the most common fetal uro- 5 genital malformations with special consideration of ultrasound in families with previously affected member. Since these features and addition of our ultrasound assessments. congenital disorders are responsible for 30 to 50% of cases of end-stage renal disease in children,6 it is of crucial impor- Keywords: Autosomal dominant polycystic kidney disease, Urogenital anomalies, Ultrasound diagnosis. tance to diagnose these anomalies in order to initiate therapy as soon as possible to minimize renal damage and to prevent Luetic AT, Kurjak A. Prenatal Ultrasound How to cite this article: or delay the onset of kidney failure. In case of lethal form Diagnosis of Fetal Urogenital Anomalies. Donald School J Ultrasound Obstet Gynecol 2016;10(3):301-307. of congenital kidney disease, it is important to diagnose it in order to give accurate information to the parents and to Nil Source of support: provide them with proper genetic counseling. Conflict of interest: None Although prenatal genetic and molecular testing of the different fetal and placental tissues has enabled a huge INTRODUCTION step-up in antenatal diagnosis of different anomalies of urogenital tract, ultrasound still remains an irreplace- The prevalence of fetal malformation is relatively high, able tool in initial assessment of fetal morphology. With with an average prevalence of 2.0%.1Among all the the development of new ultrasound technologies, such malformations, anomalies of the urogenital tract seem as high-definition ultrasound, the diagnosis of different to be among the most common, with a prevalence rate urogenital anomalies has moved from the second to the of 0.5 to 0.8% in unselected population according to first trimester, enabling faster diagnosis and the possibil- the literature.2,3 If certain organs are considered, then ity to perform invasive procedures earlier in pregnancy if kidney is the most affected site of congenital abnormali- necessary. The finding of different urogenital anomalies ties. Since most of the parts of urogenital system can be should be followed by detailed examination of entire fetal visualized by ultrasound as early as 12 weeks of gesta- anatomy and evaluation of the amniotic fluid level. The tion and with more confidence later through pregnancy, differential diagnosis should take into account personal these anomalies constitute approximately 20 to 30% of all and family history, the presence of associated anomalies, 4 malformations detected in the antenatal period. karyotype, and genetic testing if available. Urogenital malformations can be unilateral or bilat- Here, we present a review of the use of ultrasound eral, mild, and asymptomatic, while in some cases can in the detection of fetal urogenital system with special result in impaired renal function and be lethal in prenatal consideration in kidney malformations since it is the most or postnatal period. common site of different developmental disruptions. ANOMALIES OF THE FETAL KIDNEY 1Assistant Professor, 2Professor and President Human kidney develops in early embryonic stage and it 1 Department of Obstetrics and Gynecology, Clinical Hospital evolves through three developmental stages: Pronephros, Sveti Duh, Zagreb, Croatia mesonephros, and metanephros. The earliest stage is the 2Department of Obstetrics and Gynecology, International pronephros that develops from the 4th to the 14th somites Academy of Perinatal Medicine, Zagreb, Croatia and consists of 6 to 10 pairs of tubules.7 These tubules join Corresponding Author: Ana Tikvica Luetic, Assistant Professor into a pair of primary ducts that grow caudally, and Department of Obstetrics and Gynecology, Clinical Hospital eventually terminate into the cloaca. The pronephros is Sveti Duh, Zagreb, Croatia, e-mail: [email protected] a temporary structure that disappears completely by the Donald School Journal of Ultrasound in Obstetrics and Gynecology, July-September 2016;10(3):301-307 301 Ana Tikvica Luetic, Asim Kurjak 4th week of human embryonic life. Second stage of renal diameter value.11 In order to better predict postnatal development is mesonephros that derives from the inter- complications of the ultrasound diagnosis of antenatal mediate mesoderm and becomes the principal excretory hydronephrosis, the antenatal Society of Fetal Urology organ by the 8th embryonic week. Although mesonephros developed criteria for the diagnosis and grading of gradually degenerates, the parts of its duct system con- hydronephrosis based upon the degree of pelvic dilata- stitute some parts of the male reproductive organs. The tion, number of dilatated calyces, and the presence and final stage of the renal formation is the metanephros that severity of parenchyma atrophy.12 According to that arises distal to the mesonephros at 5 weeks of develop- grading system, grade I includes only mild dilatation of ment. It is also derived from the intermediate mesoderm. the renal pelvis, while moderate dilatation of the renal The precursor of the ureters grows as a diverticulum from pelvis including a few calyces is considered as grade II. the Wollfian duct and extends toward and inside the Grade III includes uniform dilatation of all calyces with metanephric mesenchyme.7 normal renal parenchyma, while grade IV is the most Development of the new ultrasound technologies and serious with additional thinning of the renal parenchyma improvement of the resolution of the ultrasound picture (Fig. 1). The prognosis is worse with higher grade with enabled the earlier visualization of fetal kidneys even at increase number of surgical interventions in grade III the end of the first trimester. In most of the cases, kidneys and IV. Although mild hydronephrosis, which is usually can be assessed from the 9th week of gestation, while the called pyelectasia, resolves after birth in most cases, period beyond 12 weeks should provide us with the clear their finding should also be followed by the detailed demonstration. During detailed morphologic examina- ultrasound assessment of the fetal anatomy and review tion at the 20 gestational weeks in 95% of fetuses’ kidneys of clinical risk factors for trisomy 21 since it has been should be assessed by ultrasound in detail and analyzed shown that its prevalence is higher in a case of Down 13 in their number, position, measurements, echogenic syndrome. Despite this, isolated finding of the pyelec- appearance.8 An indirect sign of renal appearance is the tasia is not obligatory for genetic amniocentesis since the presence or absence of renal arteries that could be exam- risk for Down syndrome remains low in the absence of 13 ined by color Doppler flow imaging, while the evaluation maternal risk factors and other sonographic markers. of the amniotic fluid index gives additional information After hydronephrosis, which can be found in up to 1% about the function of the kidney. In normal circumstances of all pregnancies, congenital anomalies of the kidney and ureters are not visible, while their ultrasound appearance urinary tract constitutes a second group of frequent pathol- should be followed by the detailed examination of the rest ogy usually found during antenatal diagnostic ultrasound of the urogenital and other system anatomy. examination. As previously described, the development The most common renal abnormalities diagnosed of the kidney and other parts of the urogenital system in prenatally by ultrasound are hydronephrosis caused humans is a pretty complicated process, which, on disrup- by transient urine flow impairment at the level of the tion at any time, can cause several different phenotypes pelvis–ureteric junction and vesico–ureteric junction or with different prognosis. Due to the multiple etiologies posterior urethral valve.9 In most cases, hydronephrosis is of renal anomalies and their similar appearance on ultra- diagnosed in the absence of other urogenital anomalies as sound examination, it is often difficult to establish correct the dilatation of anterior–posterior pelvis diameter above diagnosis during antenatal examination. the referral values for certain gestational age. This is often Autosomal dominant polycystic kidney disease considered as physiologic changes in male fetuses with (ADPKD) is one of the inherited causes of renal disease good prognosis and spontaneous resolution after birth, with the highest prevalence. It is an autosomal dominant while the finding of hydronephrosis in female fetuses condition with high penetration, which can be present carries the higher risk for adverse
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