Prenatal Diagnosis of Autosomal Recessive Polycystic Kidney Disease by Ultrasonography and Magnetic Resonance Imaging

Abstract

Autosomal recessive polycystic kidney disease is a relatively rare congenital disease affecting the kidneys and liver. We noticed the kidney abnormality at 22 weeks gestation and observed the patient till the delivery at 36 weeks of gestation. The ultrasonographic features consisted of bilaterally enlarged hyperechogenic kidneys, oligohydramnios, lack of distention and difficulty in identifying the fetal urinary bladder. The serial sonographic features of the kidneys changed as pregnancy progressed. The kidney cysts gradually changed in size, shape and renal texture, but the umbilical velocimetry and the kidney circumference/abdominal circumference ratio did not change. Magnetic resonance imaging also showed similar characteristic features as observed by ultrasonography.

Prenatal diagnosis of autosomal recessive polycystic kidney disease by molecular genetic analysis

“…When there is maternal obesity or severe oligohydramnios, fetal MRI may confirm the diagnosis and identify other associated abnormalities, as in the present case, 7 but considering cost effectiveness, usefulness of fetal MRI evaluation is limited. A marked increased signal intensity on T2‐weighted images suggests a high water content in the renal parenchyma 8 . Due to the usually comparable clinical course among affected siblings and the limitations of prenatal ultrasound, an early and reliable prenatal diagnosis of ARPKD is only feasible by molecular genetic analysis 9 .…”

“…A marked increased signal intensity on T2-weighted images suggests a high water content in the renal parenchyma. 8 Due to the usually comparable clinical course among affected siblings and the limitations of prenatal ultrasound, an early and reliable prenatal diagnosis of ARPKD is only feasible by molecular genetic analysis. 9 However, PKHD1 mutation screening poses considerable challenges because the gene extends over a genomic segment of at least 470 kb and includes a minimum of 67 exons.…”

Prenatal diagnosis of genetic renal diseases: breaking the code

“…PKD is a diagnosis that can be suspected on the second‐trimester scan as early as 22 weeks8 but which can only be confirmed, at the earliest, much later in the pregnancy since nephrogenesis is only completed at around 34 weeks. In as many as 70% of cases the precise diagnosis will only be made in postnatal life, thus adding to the uncertainty of prenatal diagnosis and questioning the difference between the possibility of a false‐negative result when the differentiation is simply delayed or not clearly amenable to prenatal ultrasound and the expression of the natural history of the disease.…”

Parameter set for computer-assisted texture analysis of fetal brain

“…It is used for prevention and diagnosis of congenital malformation [2, 3]. Nevertheless, there are cases which benefit from alternative imaging techniques like 1.5 or 3 T MRI [4–9].…”

“…MRI is also being increasingly used as correlative imaging modality in pregnancy—because it uses no ionizing radiation, has no known teratogenic effects, provides excellent soft-tissue contrast, and has multiple planes for reconstruction and large field of view, allowing better depiction of neuroanatomy in fetuses with large or complex anomalies [12–15]. Compared to magnetic resonance imaging, USG is more affordable and widely used in many countries, as a radiologic tool in routine examination of pregnant women, especially in the detection of fetal anomalies, at about 20th week of gestation [2, 3]. On the other hand, 1.5 and 3 T MRI scanners produce superior CNS images (Fig.…”