The ultrasound in prenatal diagnosis of thanatophoric dysplasia

a case report

Abstract

The thanatophoric dysplasia (TD) is considered the most frequent form of lethal chondrodysplasia, being a dwarfism with autosomal dominant form of inheritance. The objective of this article is report a case of a newborn with prenatal TD diagnosis. Ultrasound showed short limbs and pulmonary hypoplasia, without face defects. 32-year-old pregnant, had 2 pregnancies, 1 birth and 0 abortion earlier, GA: 28 weeks, went to the tertiary maternity during premature labor. The patient had vaginal delivery, birth of male newborn with Apgar 4/8; was necessary neonatal resuscitation, invasive mechanical ventilation (IMV) and use of surfactant. Capurro: 32s6d. The newborn kept with IMV due to the restrictive thoracic anatomy and pulmonary hypoplasia, developed early-onset neonatal sepsis and, subsequently, late-onset neonatal sepsis. Doppler ultrasound reported a patent foramen ovale, mild pulmonary hypertension and patent ductus arteriosus, without repercussion. Currently, with four months of life, the newborn remains on ventilator assistance and difficulty to weaning. Prenatal diagnosis permits the individualization of obstetric and pediatric behavior, prevention of complications during pregnancy, psychological support, appropriate perinatal care and genetic counseling.