Congenital Heart Disease and Associated Extracardiac Anomalies in Autopsies

PURPOSE: In order to find out how frequently and what kind of extra-cardiac anomalies (CAs) is associated with congenital heart disease (CHD) in general and in each CAs, autopsies with congenital cardiovascular malformations were studied. METHODS: Autopsy files of Seoul National University Children's Hospital from 1991 to 1995 were reviewed to find cases of CHDs. Other extra-CAs were tabulated from the records of autopsy files. The study population was comprised of 156 cases (86 still birth or product of terminated pregnancy; 66 livebirth; 4 unknowns-whether still birth or livebirth). RESULTS: The sex ratio was 1.14:1 males to females. In still birth cases, gestational age ranged from 16 to 42 weeeks and in live birth cases, age ranged from 1 day to 1 year 7 months (mostly neonates). The ventricular septal defect (VSD) was the most common CA, followed by coarctation of aorta, tetralogy of Follot in this order of frequency. No extra-CA was found in 55 cases, 1 extra-CA in 54 cases, 2 extra-CAs in 35 cases, 3 or more extra-CAs in 12 cases. VSD was commonly associated with Edward syndrome and holoprosencephaly, tetralogy of Fallot with holoprosencephaly, and coarctation with cystic hygroma. The most commonly involved organ system was the central nervous system followed by the digestive system, facial anomaly, and so on. Chromosomal anomaly associated with CHDs was 24 cases. Common individual anomalies were cystic hygroma, Edward syndrome, holoprosencephaly, and so on. CONCLUSION: As the fetus and infants with CHD have high incidence of associated extra-CAs, collaborative works involving dysmorphologist, geneticist, pathologist, surgeons, and pediatric cardiologist are needed. For further studies of CA and extra-CAs, a systematic database andprecise medical records and interdepartmental collaboration are necessary.

Re-evaluation of TSH screening test in neonates

Five years ago, we made the cut-off value of Tsh by dry filter paper method as 15 microU/ml to sereening congenital hypothyroidism. Since then, 1,210 term neonates, who had no perinatal problems, were born in SNUCH between Aug. 1987 and Apr. 1992, had been performed this neonatal Tsh screening test with this cut-off point. Neonates had been recalled for measurement of serum T4/TSH to rule out congenital hypoothyroidism if their TSH value by screening tests reveal more than 15 microU/ml. Because there had been high false-positive rate during 5 years, we felt thiscut-off value of TSH should be set higher than 15 microU/ml with same method. Therefore, we analyzedthis TSH values to set a new cut-off point to recall the neonates. The results ars asbelow: 1) TSH value by dry filter paper method was 8.48+/-4.41 U/ml(mean+/-S.D.) 2) Assuming 15 microU/ml as a cut-off point for recall the neonates, the false positive fate is 8.01% 3) Tomake the false positive rates as 0.3%, it is reasonable to set the cut-off point at 22 microU/ml, whichis +/-3S.D.(99.7 percentile) of measured TSH level by dry filter paper method.

Two Cases of the Rud Syndrome in Siblings

No abstract available.

The Time of the First Stool and Urine by the Low Birth Weight, Premature Infant

The times of passage of the first stool and urine in the newborn infant are important because delayed micturition may indicate urinary tract pathology and failure to pass meconium may be an early sign of intestinal obsturuction. Times of first void and first stool in 180 consecutive low birth weight, premature infant born at Seoul National University Hospital during 44 months from January 1976 to August 1979 were recorded. Available data were gathered with regard to gestional age.The aim was to determine the relation of the first void and first stool to gestational age, mode of delivery, initial feeding and Apgar score. All infants voided by 34 hours with a tendency for preterm woid early. There was a delay in the passage of the meconium by the low birth weight, premature infant as compared with full term infant.Smaller gestational age group tended to pass the meconium late in all groups and early feeding group tended to pass the first meconium and the first void early. But there was no differences of the time of the first meconium and first urination between Apgar score or mode of delivery.If meconium passage did not occur within 24 hours after birth, close observations were needed.But Failure of low birth weight infants to pass meconium by 36 hours shoul call for examination to determine the cause of delay of meconium passage. Similarly, close observation of all premature who have not voided for 24 hours is indicated.

A statistical Observation on Growth Pattern of Low birth Weight infants

The author have statistically observed growth pattern of LBW infants born at NMC obstetric ward for 4 years form Jan. 1972 rtrough Dec, 1975. LBW infants were divided ino 2 groups, preterm and small-for-date infants and compared with normal full-term delivered infants group for height and weight. Following results were obtained 1) As compared with NFD infants group, preterm infants group revealed ststistically meaningful difference in height and weight until 5-6 months of age. Thereafter no difference was noticed. But, SFD group showed difference in height and weight until 1 year of age. 2) Preterm infants group was found to have a greater growth velocity than SFD group in 4-7 months of age, SFD group showed relatively similar increment of height and weight with NFD group. 3) Mean heght and weight of LBW infants were below NFD gronp until 1 year of age. Growth velocity ws similar with NFD group, so handicaps of LBW infants were not overcome statistically during 1 year after birth.