ABSTRACT
Trisomy 13 (Patau syndrome) is rare and usually fatal if contracted within the first six months of life. We report a case of a male fetus with the typical features of Patau syndrome. He was terminated in a 27-year-old mother at the gestational age of 32+4 weeks. In chromsomal analysis by GTG banding technique, the karyotype of the fetus was 46,XY,rec(13) dup(13q)inv(13)(p13q21.3)(=partial trisomy 13q); and his mother's karyotype was 46,XX, inv(13)(p13q21.3)(=pericentric inversion). His father had normal karyotype, 46,XY. Ultrasonography showed fluid-nature content, which was occupying the entire intracranium, but preserving the brain stem and cerebellum. Postmortem examination disclosed holoprosencephaly, hydrocephalus, a single nostril, bilateral anophthalmia, ventricular septal defect, and a single umbilical artery.
Subject(s)
Adult , Humans , Male , Anophthalmos , Autopsy , Brain Stem , Cerebellum , Fathers , Fetus , Gestational Age , Heart Septal Defects, Ventricular , Holoprosencephaly , Hydrocephalus , Karyotype , Karyotyping , Mothers , Single Umbilical Artery , Trisomy , UltrasonographyABSTRACT
Congenital chloridorrhea is a rare autosomal recessive disease and results from impairment of active transport of chloride in the ileum and colon. Absence of the Cl-/HCO3-, exchange pump causes polyhydramnios, distended bowel loop and absence of meconium before birth. Prenatal ultrasound examination shows a great number of circular anechoic area in the fetal abdomen, as well as polyhydramnios. Massive watery diarrhea is apparent from the first days of life. This fluid loss, with its attendant impairment of electrolyte homeostasis, is life threatening. Exact replacement of water, NaCl and KCl can prevent the growth and psychomotor retardation and the development of progressive renal damage. We experienced one case of congenital chloridorrhea and present it with brief review of literatures.
Subject(s)
Abdomen , Biological Transport, Active , Colon , Diarrhea , Homeostasis , Ileum , Meconium , Parturition , Polyhydramnios , Ultrasonography , WaterABSTRACT
One fetal demise of twin pregnancy in the second or third trimester is an unusual and difficult problem in the managemcnt of pregnancy. It can be associated with an increased risk for mortality and morbidity in the remaining fetus and with maternal DIC. 255 twin gestations were delivered at our hospital between December 1984 and August 1998. 8 cases of twin pregnancies with one fetal demise were observed. We reviewed 8 cases of twin pregnancies with one fetal demise that had been managed conservatively. The incidence of twin pregnancies with one fetal demise was 3.14% in the study population. The incidence of preterm delivery was 87.5%. The perinatal mortality rate of surviving twins was 25%. There were no cases of maternal disseminated intravascular coagulation or infection. There were no cases of neurologic damages in the surviving twins. The main cause of neonatal death was prematurity. An expectant approach to the twin pregnancies with one fetal demise seems reasonable.