Prenatal ultrasonographic appearance of "agenesis" of the ductus arteriosus and pulmonic valve hypoplasia. A case report and review of the embryogenesis.
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Biomedical subjects
Publications and source records attributed to W H Persutte.
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A fetus with a severe variant of the agnathia malformation complex (AMC) was delivered following prenatal diagnostic evaluation with ultrasonography. The constellation of anomalies that accompanied the agnathia included holoprosencephaly, hydranencephaly, situs inversus, and polysplenia. Recently, several authors have reported the association between the agnathia, holoprosencephaly, and situs inversus. We present evidence which suggests that, when hydranencephaly is also present, this may represent the most severe variant of the AMC. Our case is presented, the literature is reviewed, and a hypothesis regarding the embryopathologic mechanism is discussed.
In two cases of erythroblastosis fetalis, combined intravascular and intraperitoneal transfusions were used successfully.
Benign familial macrocephaly is an autosomal dominant disorder associated with a large absolute circumference of the head. In this disorder serial growth demonstrates a proportional rather than an excessive rate of growth. To date, we are not aware of any published case reports that confirm the diagnosis prenatally. We report a case of benign familial macrocephaly diagnosed in utero by ultrasonographic evaluation. This case report points out the necessity of combining appropriate family history and physical examination in cases of prenatally detected anomalies.
Magnetic resonance imaging has been of limited value in fetal evaluation due to the prolonged duration of image construction and uncontrolled fetal movement. This limitation can be overcome safely by immobilizing the fetus with an intramuscular injection of pancuronium bromide.
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A retrospective study was conducted to determine if there was a correlation between maternal urinary bladder filling and the ability to obtain fetal measurements. The ultrasonographic examinations of 400 randomly selected second and third trimester patients were evaluated. The patients examined either had a full bladder or an empty bladder. Although all patients were considered to have adequate examinations, 91.5% of those with a full bladder and 93% of those with an empty bladder had complete (four parameter) biometric evaluations. No statistical correlation was found between maternal bladder size and the ability to obtain fetal measurements.
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A case of Pena-Shokeir syndrome type I was diagnosed prenatally with ultrasonography and magnetic resonance imaging (MRI) in a woman with a possible previous occurrence. Initial ultrasonographic examination at 18.5 weeks' gestation demonstrated an unusual appearance of the fetal spine in an otherwise unremarkable fetus. However, subsequent sonographic examinations at 26 and 28.5 weeks demonstrated polyhydramnios and multiple skeletal, brain, and facial abnormalities. Magnetic resonance imaging, performed to further evaluate the fetal brain, confirmed the sonographic findings. However, MRI was not useful in further differentiating the diagnosis. A 1024-g, premature male fetus was delivered at 30 weeks' gestation and died within 30 minutes of delivery. The fetus had multiple congenital anomalies consistent with Pena-Shokeir syndrome type I.
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