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Twenty newborns, prenatally diagnosed to have congenital malformations, received surgical correction postnatally in recent 7 years. Using serial ultrasound examinations, the following lesions were found: multicystic dysplastic kidney (3 cases), ureteropelvic and ureterovesical junction stenosis (1 case), Mullerian duct cyst (1 case), sarococcygeal teratoma (3 cases), adenomatoid malformation of lung (1 case), omphalocele (1 case), gastroschisis (1 case), duodenal atresia (1 case), ileal atresia (1 case), meconium peritonitis (2 cases), imperforate anus (1 case), adrenal cyst (1 case), congenital diaphragmatic hernia (1 case) and a pair of xipho-omphalopagus twin. The results of surgical corrections were good in all except one baby with omphalocele who died of respiratory distress syndrome.

Ten short-limbed fetuses caused by skeletal dysplasia were diagnosed prenatally from September 1984 through July 1988. The final diagnosis was thanatophoric dwarfism in 7 cases and osteogenesis imperfecta congenita in 3 cases. The diagnosis was based on sonographic findings in all cases and postnatal radiography was performed in 3 cases for further confirmation. Sonographic examinations revealed markedly shortened limbs and other associated abnormalities, including abnormal skull appearance, pear-shaped chest with protuberant abdomen, polyhydramnios and hydrops in fetuses with thanatophoric dwarfism. Fetuses with osteogenesis imperfecta congenita were characterized by fractures of the long bones. These findings were helpful in making the specific diagnosis of short-limbed dwarfism. According to our experience, sonographic examination is effective in the prenatal diagnosis of short-limbed dwarfism.

Twenty unrelated families of homozygous beta-thalassemia were collected for restriction polymorphism haplotype study of the beta-thalassemia (beta T) genes. DNA was extracted from WBC of the family members. With Southern blotting and DNA hybridization, restriction fragment length polymorphisms (RFLPs) were studied at 7 sites within the beta-globin gene cluster, including 5' epsilon-HincII, G gamma-HindIII, A gamma-HindIII, psi beta-HincII,3' psi beta-HincII, beta-AvaII,3' beta-BamHI. From RFLPs of the family members, restriction polymorphism haplotypes of the 40 beta T chromosomes and the 40 normal beta-globin gene (beta A)-bearing chromosomes were constructed. In beta T chromosomes. 26 (65%) belonged to haplotype I (+----++), 12 (30%) to haplotype II (+-----+), 1 (2.5%) to haplotype III (-++-+-+) and 1 (2.5%) to haplotype IV (++---++) which has not been reported in Chinese before. In beta A chromosomes, 12 different haplotypes were found. Seven (17.5%) belonged to haplotype I, 13 (32.5%) to haplotype II, and 6 (15%) to haplotype V (+----+-). The implications of RFLP and haplotyping of beta T genes in terms of molecular defects and prenatal diagnosis are discussed.

We assess Chinese fetal orbital growth by biparietal diameter (BPD) in normal pregnancies. One hundred and ninety-six normal fetuses, whose gestational periods ranged from 14 weeks to term, were measured by prenatal ultrasonography. Orbital parameters measured included orbital diameter (OD), biorbital distance (BOD), and interorbital distance (IOD). At the same time, fetal BPD was measured. The results show that orbital growth correlates well with BPD; OD versus BPD (r = 0.94, p less than 0.001), BOD versus BPD (r = 0.96, p less than 0.001), and IOD versus BPD (r = 0.83, p less than 0.001). Polynomial regression analysis demonstrates that the best-fit model for orbital parameters versus BPD was the first-order linear regression. From the above analysis, the 5th, 50th and 95th confidence limits of OD, BOD, and IOD were computed for specific growth values of BPD, and these can serve as a reference for prenatal diagnosis of fetal orbital malformations when menstrual age is not defined.

Determined with automated cell counters, mean corpuscular volume (MCV) of erythrocytes was screened in 4,100 consecutive gravidas who delivered at the National Taiwan University Hospital during the period from July 1986 through August 1988. In total, 248 (6%) women had MCV less than 80 fl and were recruited for further study, including Hb A2 quantitation using microcolumn chromatography, cord blood Hb electrophoresis on cellulose acetate membrane, and alpha-globin gene mapping in some cases. In the first control group of 51 cases of obligate carriers of heterozygous beta-thalassemia, the mean MCV +/- standard deviation (SD) was 67 +/- 4.5fl (range 59 to 76fl) and the mean Hb A2 +/- SD was 6.53 +/- 1.31% (range 4.3 to 8.0%). In the second control group of 40 cases of obligate carriers of heterozygous alpha-thalassemia 1, the mean MCV +/- SD was 70 +/- 3.7fl (range 63 to 78fl) and the mean Hb A2 +/- SD was 2.28 +/- 0.54% (range 1.5 to 3.8). Forty-five microcytic women (1.1%) had Hb A2 over 4%, a cut-off level for heterozygous beta-thalassemia in our laboratory. In this study group, the mean MCV +/- SD was 68 +/- 5.4 and the mean Hb A2 +/- SD was 6.03 +/- 1.41. None of the newborns delivered by these women had Hb Bart's in cord blood. alpha-Globin gene mapping using DNA hybridization was done in 14 women, and the results were all compatible with the exclusion of deletional alpha-thalassemia. It is concluded that approximately 1% of people in northern Taiwan are beta-thalassemia heterozygotes.

Percutaneous ultrasound-guided fetal blood sampling was performed on 100 pregnancies with various fetal problems. Our technique involved the use of a 45 degree needle guide attached to a sector probe. Their gestational ages ranged from 17-38 weeks, mostly over 20-35 weeks. Seventy percent of cases were successful at the first sampling and 33% of cases had bleeding from the punctured cord. In 43 cases, a positive diagnosis was established after ultrasound-guided fetal blood sampling, including 25 Hemoglobin Bart's hydrops fetalis, 2 beta-thalassemia major, 1 hemophilia, 1 rubella infection, 1 syphilis and 13 chromosome aberrations. There were 33 survivors in this series. Seven anomalous fetuses ended in intrauterine deaths. Sixty cases resulted in neonatal deaths after spontaneous or induced labors. No fetal loss occurred in 25 normal fetuses. One fetal loss was probably related to the procedure (fetal loss rate 1/100). No immediate fetal death after sampling procedure was noted. In conclusion, ultrasound-guided fetal blood sampling had reasonable safety and technical feasibility. More common use of this technique in fetal investigations is justified and expected.