Aorto‐pulmonary window (APW) is a rare congenital heart defect characterized by the connection between the ascending aorta and the pulmonary trunk before its bifurcation, just above the semilunar valves, due to the abnormal development of spiral septum. The short‐axis echocardiographic view of the right ventricular outflow track, the three‐vessel‐view, and the three‐vessel‐trachea view are the key planes for prenatal diagnosis. We report a case of APW with absent ductus arteriosus in a monochorionic twin, detected by prenatal echocardiography. The diagnosis was confirmed postnatally and corrective surgery was performed at the age of 1 week. Prenatal diagnosis of APW is essential, since surgical correction early after birth is required to prevent congestive heart failure secondary to high pulmonary blood flow.
Dacryocystocele is a rare variant of obstruction of the nasolacrimal duct that results in a fluid-filled, closed sac. It often resolves by the spontaneous perforation of the distal membrane during the early neonatal period, resulting in drainage of the accumulated fluid. If persisting, this benign condition can be usually treated postnatally. If the cysts occur bilaterally, there can be an obstruction to the nasal passage due to their possible intranasal extension and might require surgical intervention postnatally to prevent or treat respiratory distress. Also, it may be a part of a few syndromes, which makes the early prenatal diagnosis very important. In this case report, we present a case of unilateral dacryocystocele reported as early as 26 weeks, 3 days of gestation detected by ultrasound that spontaneously resolved by 33 weeks. This is one of the earliest reported three-dimensional/four-dimensional ultrasound diagnosis of dacryocystocele.
Dyssegmental dysplasia, Silverman-Handmaker type (DDSH), is a lethal autosomal recessive form of dwarfism with characteristic anisospondylic micromelia. We present a rare case of a pregnancy with a history of congenitally malformed fetuses. This is the 8th prenatally diagnosed case and the first in our department. The couple were both heterozygous carriers for a gene mutation causing DDSH. Invasive testing was performed for the ongoing pregnancy to check for the same gene mutation in the fetus. The fetus, now diagnosed as a carrier of the mutation was a boon to the distressed couple. Prenatal diagnosis is important in this type of lethal Dyssegmental Dysplasias to help make an informed decision and accordingly plan future pregnancy. Fetopathological examination and skeletal radiographs are mandatory in order to establish a precise diagnosis. With advances in genetic tests and the availability of specific newer tests, we can provide appropriate genetic counseling for a better pregnancy outcome.
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