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2005-02-16-14 Infantile polycystic kidney disease in one of the twin gestation © Dhaifalah

Recessive kidney disease in one of the twin gestation

Ishraq Dhaifalah, MD, PhD, Jiri Hyjanek MD, Jiri Santavy, MD

Department of Medical Genetic and Fetal Medicine. University Hospital, Olomouc, Czech Republic

This is a case of infantile polycystic kidney disease in one of the biamniotic bichorionic twin gestation. This 31-year-old woman, who is G1, P1 had been treated for infertility and had conceived after in-vitro fertilization and embryo transfer. She has a karyotype of 45, X (2) /46, XX (25). She was scanned initially at 16 weeks of gestation. Fetus A was normal except for hyperechoic intestine. Fetus B showed severe oligohydramnions, abnormal shape of the head, hyperechoic intestine, absence of urinary bladder and bilateral hyperechoic, enlarged polycystic kidneys. The Doppler was normal and it was difficult to examine the limbs.

Karyotyping of both fetuses was done with investigation for cystic fibrosis gene [CFTR gene] because of intestinal hyperechogenicity. The karyotyping of fetus A was normal 46 XX and negative for CFTR gene.  Karyotyping for fetus B was not possible because of failure due to technical reasons but was negative for the CTFR gene.

Abnormal shape of the head of fetus B:

Oligohydramnios of fetus B:

Normal Doppler:

Transverse and longitudinal sections demonstrating the hyperechoic and polycystic kidneys in fetus B:

Selective termination of the fetus B was done with intracardiac injection of KCl at 20 weeks of gestation. The bilaterally enlarged hyperechoic kidneys, oligohydramnios and absence of the bladder all pointed to a poor prognosis. The woman is currently doing well with her single pregnancy.

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