Case Report
Novel Mutation in the PKHD1 Gene Diagnosed Prenatally in a Fetus with Autosomal Recessive Polycystic Kidney Disease
Table 1
Pregnancy and fetal growth data.
| | Gestational age (based on a LMP) | Biometric measurements | Composite gestational age | Amniotic fluid index | Fetal kidney measurement | Comments |
| | 7.3 weeks | Gestational sac: 2.6 cm
CRL: 1.1 cm | NA | NA | NA | Crown rump length is consistent with the patient's gestational age by LMP |
| | 19.4 weeks | BPD: 4.9 cm
HC: 17.8 cm
AC: 16.1 cm
FL: 3.4 cm
Tibia: 2.9 cm
Humerus: 3.2 cm
Ulna: 3.0 cm
Radius: 2.7 cm | 20.7 weeks | 14.5 cm (normal) | Right kidney: 2.3 × 1.3 × 1.4 cm (>90th percentile)
Left kidney: 2.2 × 1.7 × 1.7 cm (>97th percentile) | Bilateral enlarged echogenic fetal kidneys |
| | 23.5 weeks | NA | NA | 11.5 cm (normal) | Right kidney: 3.9 × 2.4 × 2.4 cm (>97th percentile)
Left kidney: 3.7 × 2.1 × 2.0 cm (>97th percentile) | (1) Bilateral enlarged and echogenic fetal kidneys
(2) No sonographic evidence of dilation of the renal pelvis or hydro ureter |
| | 29.1 weeks | AC: 27.3 cm
FL: 6.0 cm
Fetal weight: 1788 gms (86th percentile) | 31.3 weeks | 4.6 cm (oligohydramnios) | Right kidney: 5.8 × 2.9 × 3.7 cm
Left kidney: 5.7 × 2.8 × 3.7 cm | (1) Bilateral enlarged and echogenic fetal kidneys
(2) Oligohydramnios |
| | 35.1 weeks | NA | NA | 0 cm (anhydramnios) | NA | (1) Bilateral enlarged and echogenic fetal kidneys essentially filling the entire fetal abdomen
(2) Anhydramnios |
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AC: abdominal circumference.
CRL: crown rump length.
BPD: biparietal diameter.
FL: femur length.
HC: head circumference.
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