Search

165 prenatal cytogenetic analyses are reported. The culture and Giemsa or quinacrine mustard (QM) staining processes are described. Karyotypes from both Giemsa and QM metaphases were analyzed. The main indications for amniocentesis were: 1)previous child with Down's syndrome (65), 2)advanced maternal age (74), 3)D/G carrier (5), 4)Duchenne muscular dystrophy (5) or 6)previous indication of other chromosomal anomaly. In the advanced maternal age group, 4 G21 and 1 E18 trisomy fetuses were detected. No chromosomal abnormalities were seen in the group referred for a previous child with Down's syndrome, although one woman was found to have a 9/13 translocation herself. Another woman with 13/14 translocation gave birth to a healthy boy with a 13/14 translocation, as predicted. Of 5 women referred for D/G translocation carriers, 1 had a fetus with a 46, X,Y,-D + t(DqGq) karyotype. Sex determination for X-linked anomalies resulted in detection of 2 Duchenne's muscular dystrophy, 1 hemophilia, 1 Norrie's syndrome, and 1 Pelizaeus-Merzbacher's syndrome.

Three new cases of trisomy 17–18 are described. Of particular interest is theoccurrence of cleft palate and lip, third degree hypospadias, rectourethral fistula, split scrotum, and imperforate anus in this syndrome. An evaluation of preconceptional parental irradiation as an etiologic factor is attempted. Although the data are somewhat limited, they do suggest such irradiation may be of significance. The paradoxical association of prolonged gestation and reduced birth weight is confirmed. Examination of data from 51 cases now available indicates that the advanced maternal age effect is significantly less than that demonstrated for mongolism.

 Objective: There is a high incidence of birth defects in China, and prenatal diagnosis is an important method of intervention. This study aims to describe the clinical indications and cytogenetic results of amniocentesis cases in central China.Methods: We retrospectively reviewed cases at the Maternal and Child Care Service Centre in Henan Province from January 2012 to December 2014. A total of 4497 at-risk mothers (risk factors: advanced maternal age, history of intrauterine fetal death or aborted fetuses, chromosomal abnormality in one of the parents, high-risk maternal serum screening results, and abnormal ultrasonographic findings in the first or second trimester) were recruited for amniocentesis (AS). The subjects included were between 11–14 and 18–22 weeks of gestation. All cases were divided into two groups based on instrument-independent or instrument-dependent indications. Results: A total of 4146 cases were analyzed. Of these, chromosomal abnormalities were detected in 232 cases (5.6%), and autosomal aneuploidy, including trisomy 21 and trisomy 18, was found to be the most common (55.7%) chromosomal abnormality. The mean age of 29.94 years was not expected as all mothers older than 35 years old were routinely offered amniocentesis at the time of the study. Amniocentesis was carried out in 1711 cases because of instrument-independent indications, and 285 of these cases were diagnosed with chromosomal abnormality. In 2376 cases, amniocentesis was conducted because of instrument-dependent indications, and 176 of these were diagnosed with chromosomal abnormality. Thus, 5.6% of the cases were diagnosed with chromosomal abnormalities, and autosomal aneuploidy, including trisomy 21 and trisomy 18, were the most common chromosomal abnormalities detected in the present study. Conclusion: Our result indicated the significance of instrument-independent indications in the screening of chromosomal abnormalities, especially in developing areas. Birth defects may be reduced by paying more attention to the patients’ history of medication.

5,376 consecutive births were examined for the presence of congenital malformations, to find out its incidence and to determine the role of environmental factors in the causation of these anomalies. The incidence was 13.76 per one thousand births. Males dominated among the malformed infants with an incidence of 67.56 per cent. The maximum number of malformed children were born to mothers in the third pregnancy, constituting a percentage of 37.83. Prematures accounted for 17.56 per cent of all the malformed births. The incidence of congenital malformations among prematures was 3.8 per cent. Infants with central nervous system anomalies formed the major group with an incidence of 40.54 per cent among the affected infants. 31 per cent resulted in still births. The incidence of congenital malformations among still-births was 7.58 per cent. Hydramnios during pregnancy was observed in five cases (6.75 per cent). A history of chicken pox and measles in the first trimester of pregnancy was elicited in two mothers (2.7 per cent). Advanced maternal age and parity were linked in six cases of mongolism. A history of increased vaginal bleeding in early pregnancy was obtained in four cses (5.4%). A history of consangunity was present in two infants. No other significant etiological factors could be determined in any case.

Background : The etiology of the cleft lip and palate (CLP) are still debated among researchers. Early pregnancy awareness is essential since the facial formation occurs in the first eight-week of gestation period. This study aims to compare pregnancy awareness and risk factors associated with CLP. Method : A descriptive cross-sectional study on 103 mothers whose child suffered from non-syndromic CLP (cases) was compared to 157 mothers whose child is normal (control). Parameters evaluated were pregnancy awareness during early pregnancy and CLP risk factors, including oral contraceptive (OC), absence of vitamin supplementation, smoking, and alcohol use within the first eight-week of gestation period. Family history and maternal age were also assesed. Result : The rates of late pregnancy awareness were 10-folds higher in cases, with the scale of 65% compared to 6.5% (p value

Since 1969, we have cultured over 200 diagnostic amniotic fluids. Of these, 183 were for cytogenetic diagnosis. The chromosome analysis was successful in 168 cases. The indications and the results of the affected fetuses (followed by therapeutic abortion) are: (1) previous child with Down's syndrome: 62 cases (1:47,XX,+21); (2) advanced maternal age: 54 cases (1:47,XXY; 1:45,X/46,XY mosaicism; 1:47,+18); (3) previous child with multiple anomalies: 12 cases; (4) previous child with 47,XY,+18 or 47,+13: five cases; (5) translocation carrier: two cases; (6) parental mosaicism: three cases; (7) X-linked disorders: six cases (3:XY); (8) others: 24 cases. We have found firstly, that for prenatal sex determination, karyotype analysis of the cultured amniotic fluid cells is the only accurate means and that caution must be taken if sex chromatin and Y-fluorescent body determination from the uncultured amniotic fluid cells is used. Secondly, that diagnosis of chromosomal mosaicism can be problematic as exemplified by our case of 45,X/46,XY mosaicism, where only 45,X cells were recovered from the first culture. Thirdly, that in cases with enlarged satellites, cells of late prophase or early metaphase must be used to eliminate confusion with translocations. We encountered three cases of enlarged satellites—one in the D group and two in the G group—and all three resulted in normal infants. Fourthly, that the karyotype may be altered by contamination and/or treatment or other unknown factors. We have observed two such cases where each mother delivered a normal infant.

K.M, a 1 year and 9 month old male child from Mwanza was referred from Bugando Hospital to Muhimbili National hospital for further investigations and management. He presented with gradual onset of dry recurrent cough and difficulty in breathing for 20 months and low grade recurrent fever for 9 months. His mother was 43 years and father 45 years old. On examination he was alert, febrile (38.5oC), acyanotic, with up-slanting eyes, low set ears, flat nose-bridge, small chin, short neck, pigeon chest and webbed toes. He was malnourished with delayed developmental milestones. A pansystolic murmur was auscultated at the lower left sternal edge; and he had impaired speech, reduced muscle bulk and muscle tone with muscle power of grade 3.

Advanced maternal age has been shown to be related to a number of pathologic conditions in the offspring. While considerable attention has been devoted to a study of maternal age as related to such conditions as achondroplasia, 1 congenital cranial osteoporosis, 2 multiple births, 3 monstrosities 4 and abnormally large fetuses, 5 the maternal age at birth of children who subsequently become psychotic has received little emphasis. Gordon 6 reported 30 cases. His conclusion that "late marriage seems to favor the development of mental disorders in the offspring" seems rather sweeping on the basis of such a small series. Kawin 7 made the statement that parents of problem children tend to be slightly older than average. In general, however, the age of mothers at the time of birth of children who subsequently become psychotic has been almost universally ignored. Several conditions involving the central nervous system have been shown to

Although mongolism is now in its ninety-first year as a medical subject,1its origin remains obscure. More than a score of theories have been proposed to explain it; among them is the idea that the ages of the parents may in some way be responsible. For example, the parents may have been too old or too young at the birth of the child; a great discrepancy may exist between their ages; the child may be a first-born, subject to all the well known hazards of that birth position, or he may be the last-born after a long line of pregnancies. Again, a long interval preceding birth has been thought a cause; in this case the afflicted child appears after a period of reduced and perhaps defective fertility. This has brought up another factor, namely, the possible relation of low fertility in certain women to mongolism. Lastly, there is the