phenylephrine-hydrochloride and Diabetes--Gestational

Alobar holoprosencephaly is a rare and severe brain malformation due to early arrest in brain cleavage and rotation.. We report a congenital anomalous fetus with alobar holoprosencephaly, prenatally diagnosed by two-dimensional (2D) sonography at the 40 weeks of gestation. The mother was affected by gestational diabetes mellitus and was obese (BMI > 30 kg/m(2)). 2D Ultrasound depicted the cerebral malformation, cyclopy, proboscis, cardiac defects (atrial septal defect, hypoplastic left heart, anomalous communication between right ventricle and aorta) and extremities defects. The newborn died just after delivery. External examination confirmed a mobile proboscis-like nose on the normal nose position. The fetus had both claw hands. The right and left feet showed to be equine. Autopsy confirmed the ultrasound diagnosis and chromosome analysis revealed trisomy 13 (47,XY,+13). Fetopathologic examination showed cyclopy, proboscis and alobar holoprosencephaly of the fetus, which was consistent with Patau syndrome.. The teratogenic effect of diabetes on fetus has been described, but no previous clinical case of a congenital anomalous fetus with trisomy 13 and maternal gestational diabetes has been reported. This case report is the first to describe 2D ultrasound diagnosis of alobar holoprosencephaly and trisomy 13 with maternal gestational diabetes mellitus.

Topics: Adult; Chromosomes, Human, Pair 13; Diabetes, Gestational; Eye Abnormalities; Female; Heart Defects, Congenital; Holoprosencephaly; Humans; Infant, Newborn; Limb Deformities, Congenital; Nose; Obesity; Pregnancy; Trisomy; Ultrasonography, Prenatal

Complete or total arhinia, in which there is absence of the soft tissue of the nose, is extremely rare. The embryological origin of the defect is thought to be maldevelopment of the paired nasal placodes. Available neonatal case descriptions have reported the frequent coexistence of other facial anomalies. This report is the first to describe the antenatal diagnosis of total arhinia confirmed after delivery. Sonographic views of the fetal profile, showing an absence of the nose led to consideration of the diagnosis.

Topics: Adult; Diabetes, Gestational; Female; Follow-Up Studies; Humans; Infant, Newborn; Magnetic Resonance Imaging; Male; Nose; Plastic Surgery Procedures; Pregnancy; Pregnancy Complications; Pregnancy Outcome; Pregnancy Trimester, Second; Tomography, X-Ray Computed; Ultrasonography, Prenatal