DNA-based carrier detection and prenatal diagnosis of tyrosinase-negative oculocutaneous albinism (OCA1A)

We describe molecular prenatal diagnosis and carrier detection of tyrosinase-negative oculocutaneous albinism (OCA1A) in two families. In one family, we carried out DNA-based prenatal diagnosis of OCA1A. In the other family, mutation analysis and carrier detection obviated the need for prenatal diagnosis. Molecular analysis is safer and probably more accurate than fetoscopy and fetal scalp biopsy, and should become the method of first choice for prenatal diagnosis of OCA1.     

Mitochondrial DNA depletion presenting prenatally with skin edema and multisystem disease immediately after birth

We describe two newborn sisters who presented in the third trimester with diminished fetal movements and skin edema, but with no other signs of hydrops fetalis. Within hours of birth, both developed profound lactic acidemia, followed by multi-organ failure. In muscle mitochondria, the activity of all enzymatic complexes that contain mitochondrial DNA (mtDNA)-encoded subunits was markedly decreased. Southern blot analysis revealed a profound reduction in the mtDNA/nuclear DNA ratio, implying mtDNA depletion. The prenatal identification of skin edema in two patients with mtDNA depletion, and its absence in a healthy sibling, suggest that skin edema should be regarded as a novel manifestation of mtDNA depletion. This finding shows that mtDNA depletion can present prenatally and, consequently, may aid the clinician in making a diagnosis, prenatally, of this genetic defect. Copyright © 2002 John Wiley & Sons, Ltd.     

The anuric preterm newborn infant with a normal renal ultrasound: a diagnostic and ethical challenge

Diagnosis and treatment of an anuric premature infant with severe respiratory compromise and a normal renal ultrasound (US), is a difficult task that requires a multidisciplinary approach. A 29-week gestation premature male infant, born after 5 weeks of worsening oligohydramnios, was ventilated for respiratory distress and remained anuric. Intensive clinical investigations and pediatric nephrology consultation that predicted very poor prognosis were followed by progressive renal failure, electrolyte imbalance, respiratory failure, ventricular arrhythmia, and finally cardiac arrest and death on day 5. In view of the predicted poor outcome, and after discussion with the parents, a decision was made not to start peritoneal dialysis (PD), and to offer only palliative therapy, with comfort care alone. Pre and postnatal diagnosis lead, in this case, to an ethical challenge that focuses on the question of futility. Copyright © 2006 John Wiley & Sons, Ltd.