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Query: UMLS:C0019270 (hernia)
 15,856 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Definitions are offered for the concepts of sterility and infertility. The notion of infertility is expanded to cover not only habitual abortions (three or more miscarriages) but, as well, deliveries of defective children. --Five-hundred and fifty-five pregnancies so far have occurred to 240 infertile probands, among them 78 with habitual abortions and 162 with damaged children. Only one in ten of those pregnancies resulted in clinically intact live birth. --Abortion was the result of 95 per cent of all pregnancies of the women with habitual abortion. The same applied to 25 per cent of all pregnancies of the above women with defective children (e.g. Down's syndrome, neural tube defects, diaphragmatic hernia, hydrocephalus, and progressive muscular dystrophy). A damaged child was born in more than 50 per cent of the latter pregnancy cases. --The number of children born by 162 women has been 181, with only 96 of them alive. The causality relationship between abortion and birth of defective children is discussed. --Infertile women should be given special attention, before conception takes place, and they should be kept under intensive care to the end of pregnancy.
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PMID:[Infertility--a risk factor in obstetrics (author's transl)]. 53 55

A retrospective anatomical, family, and epidemiological study was made of 143 patients (81 female and 62 male) with diaphragmatic hernia who were born in the south-west of England between 1943 and 1974. Thirty-nine cases were stillborn. Seventy-five per cent of patients had a left-sided diaphragmatic defect, 22% had a right-sided defect, and 3% had a bilateral defect. Fifty per cent of the patients had other congenital malformations, most frequently of the nervous system. No maternal age or birth order effect was noted. Cases of diaphragmatic hernia without other malformations had in general a normal fetal growth rate. Eight per cent of the cases were illegitimate. There were two pairs of twins discordant for diaphragmatic hernia, one pair being dizygotic and the other monozygotic. In no case of diaphragmatic hernia was there a relative affected with a diaphragmatic hernia. The most common type of diaphragmatic defect was a posterolateral hernia (92%), followed in frequency by an eventration of the diaphragm (5%), the least common defect being a retrocostosternal hernia (2%). Diaphragmatic hernia appears to be aetiologically as well as anatomically heterogeneous. In this series there were two cases of trisomy 18, one case of trisomy 21, one case trisomic for a small part of chromosome 20, and two cases with the Pierre Robin syndrome. It seems likely that diaphragmatic hernia is a non-specific consequence of several teratological processes.
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PMID:Diaphragmatic hernia in the south-west of England. 95 74

A 5-year prospective prenatal study in 151 pregnancies with 152 malformed fetuses detected by ultrasound was evaluated cytogenetically. Thirty-five fetuses (23%) had abnormal karyotypes. Specific anatomical fetal malformations identified by ultrasound increase the risk for fetal chromosome abnormalities. Risks of abnormal chromosomes in the fetus are present with both single and multiple anomalies including amniotic fluid volume although the risk is increased with specific anatomical systems and multiple malformations. An abnormal fetal karyotype was present in 17% with a single anatomical abnormality and 30% when two or more anatomical systems were involved. Fetal hydrops, duodenal atresia, and omphalocele were the most specific single ultrasound anomalies; fetal hydrops, IUGR, holoprosencephaly, congenital heart disease, diaphragmatic hernia, duodenal atresia, and omphalocele were the most specific multiple anomalies with abnormal amniotic fluid volume. Termination of pregnancy occurred in 32/58 patients diagnosed prior to the 20th week of pregnancy with most (31/32) having a chromosomal anomaly or severe fetal anomaly. Fetuses terminated after the 20th week had chromosomal (7/18) or lethal fetal anomalies (11/18). The most common aneuploidies were trisomy 21, trisomy 18, and 45,X. The decision to terminate the pregnancy was based in most cases on the fetal ultrasound findings. Correlation of ultrasound and clinical findings is important for accurate genetic counselling.
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PMID:Fetal ultrasound abnormalities: correlation with fetal karyotype, autopsy findings, and postnatal outcome--five-year prospective study. 148 14

The spontaneous occurrence of triplets is rare. With increased utilization of "assisted reproductive technologies," multifetal gestations have become more common. The empiric fetal risk for major malformation is approximately 3%. In a triplet pregnancy each fetus independently carries this risk so that the probability of having at least one malformed fetus is approximately 9%. It is much less likely to have 2 or 3 simultaneously but discordantly malformed fetuses in a multizygotic triplet gestation (.09% and .0027% risk, respectively). We report on the first case, to our knowledge, of an ovulation-stimulated triplet pregnancy complicated by 3-way discordance for major malformations diagnosed in the late second trimester by ultrasound. Fetus A was affected by congenital diaphragmatic hernia and trisomy 21; fetus B had encephalocele, a midline facial defect, and a cleft palate; and fetus C had evidence of unilateral claw hand but an otherwise normal fetal survey. At 19 weeks of gestation, fetus A was found to have spontaneously died, and a selective termination of triplet B was performed. We conclude: (1) the finding of a single major malformation in one fetus should lead to extensive search for malformations in all members of the pregnancy, and (2) the simultaneous occurrence of major malformations in more than one member of a multifetal gestation is a circumstance under which multiple selective termination deserves consideration. In this article we discuss important issues and caveats in the performance of selective termination for abnormal members of multifetal gestations.
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PMID:Triply discordant triplets: probability, management options, and risks. 148 86

The average length of the umbilical cord is 50-60 cm in the normal full term newborn infant. The length of the cord is an index of foetal activity and is dependent on the tension caused by the freely moving foetus, primarily during the second trimester. The short cord is associated with foetal akinesis or maldevelopment of the central nervous system and is a significant early marker of developmental abnormalities including Down syndrome. Abnormal girth of the cord should make one suspicious of a patent urachus or an umbilical hernia and caution should be used before clamping. The importance of the twist is that, if not present, one should suspect congenital anomalies. The twist should be to the left or counter clockwise. The cord stump separates from the baby at about two weeks of age at present in the era of triple dye care with a large variability due to multiple factors.
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PMID:The umbilical cord: normal parameters. 194 74

104 patients with progressive forms of funnel chest deformity of the II-III degree with Ehlers-Danlos-Marfan syndrome, Marfan-like phenotype, isolated funnel chest deformity and unclassified funnel chest deformity of the first degree were subjected to synromologic examination. There were detected 10 dysplastic signs, indicating funnel chest deformity progression: anti-Mongol shape of the eyes, arachnodactyly, high palate, Ehlers-Danlos syndrome, floor of the auricle's dysplasia, dolichostenomely, posture disturbance, mitral valve prolapse, umbilical hernia, wide filter. The results of biochemical examination of collagen metabolite--hydroxyproline++ (the first and the second hydroxyproline++ fraction ratio disturbance, decrease of the first hydroxyproline++ fraction percentage, disturbance of direct correlation between total hydroxyproline++ and percentage of the first hydroxyproline++ fraction)--corroborated the clinical data.
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PMID:[Early diagnosis of progression of funnel chest in children]. 209 88

Three large and comparable series of births were used to test the working hypothesis that if there is a real seasonal variation in the frequency of a given congenital malformation; it would have to be shown by adequate analysis; to be more overt in non-tropical areas; and to be six months out of phase in northern and southern hemispheres. The data set were hospital births from tropical (287,165 births) and non-tropical (582,585 births) South America, and from Italy (508,536 births). Sixteen well-defined malformation types were tested: anencephaly, spina bifida, cephalocoele, hydrocephaly, microtia, cleft palate, cleft lip, oesophageal atresia, anal atresia, hypospadias, pes equino-varus, pes talovalgus, postaxial polydactylyl, pre-axial polydactylyl, diaphragmatic hernia, and Down's syndrome. No seasonal variation was proven (p less than 0.01) for any malformation type in any of the three series of data by means of Walter and Elwood's test, or Hewitt et al's non-parametric test2 applied to seven instances with sample sizes smaller than 50 cases. Variations of borderline significance (p less than 0.05) included oesophageal atresia in tropical South America, none in non-tropical South America, and anencephaly in Italy. It is concluded that seasonal variation in the occurrence of congenital malformations is a rare phenomenon when tests are strictly used within their recommended limitations.
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PMID:Monthly and seasonal variations in the frequency of congenital anomalies. 237 54

Maternal serum alpha-fetoprotein (MS-AFP) screening has become part of routine obstetric care. Although elevated MS-AFP was originally associated with neural tube defects (NTD), it is also able to detect several fetal anomalies of interest to a pediatric surgeon, ie, ventral abdominal wall defects, intestinal atresias, and sacrococcygeal teratomas. Previously, decreased MS-AFP had only been associated with fetal trisomies, but not surgically correctable lesions. In the present study, we review our recent experience with both elevated and decreased MS-AFP as a marker to detect fetal anomalies of concern to the pediatric surgeon. Forty-one fetal anomalies were associated with 333 pregnancies referred for follow-up after abnormal MS-AFP screening results from November 1985 through November 1986. One hundred ninety-six were elevated and 139 were decreased. In most cases, evaluation included counseling, repeat MS-AFP, level II ultrasound, and amniocentesis. This revealed elevated MS-AFP to be associated with 32 (16.3%) anomalies (2 NTD, 5 anencephalics, 5 ventral abdominal wall defects, 1 stage IV-S neuroblastoma, 1 renal anomaly, 1 ventriculomegaly, 15 fetal demises, and 2 fetal-maternal bleeds). Decrease in MS-AFP was associated with nine (6.4%) anomalies (2 congenital diaphragmatic hernias, 3 Down's syndrome, 1 Turner's syndrome, 2 duodenal atresias, and 1 choroid plexus cyst). In this study, MS-AFP detected several fetal anomalies known to be associated with abnormal MS-AFP and three anomalies not previously described (congenital diaphragmatic hernia, neuroblastoma, and choroid plexus cyst). Elevated as well as decreased MS-AFP are significant and should be pursued by a full prenatal evaluation.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Maternal serum alpha-fetoprotein is a marker for fetal anomalies in pediatric surgery. 245 Sep 87

Three Saudi children with Down's syndrome were found to have anterior diaphragmatic hernias. They all needed surgical correction. In Down's syndrome, besides congenital heart disease and recurrent chest infection, a diaphragmatic hernia should be looked for as a possible cause of respiratory distress and chest deformity.
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PMID:Diaphragmatic hernia in Down's syndrome. 247 43

Twenty-six consecutive fetuses with a sonographically detectable omphalocele and known karyotype were reviewed to identify risk factors that might be associated with chromosomal abnormalities. Risk factors that were analyzed included contents of the omphalocele sac, maternal age, fetal sex, sonographically detectable concurrent anomalies, and any major concurrent anomaly. Chromosomal abnormalities were found in 10 cases (38%) from trisomy 18 (n = 4), trisomy 13 (n = 4), trisomy 21 (n = 1), or 45, X (n = 1). The absence of liver from the omphalocele sac (intracorporeal liver) was strongly associated with an abnormal karyotype; chromosomal abnormalities were present in all 8 fetuses with an intracorporeal liver compared to 2 of 18 fetuses with an extracorporeal liver (p less than .0001, two-tailed Fisher exact test). Other risk factors that were statistically associated with chromosomal abnormalities included advanced maternal age (greater than or equal to 33 years, p = .03) and sonographically detectable concurrent malformations (p = .05). We conclude that sonographic findings can help determine the relative risk of chromosomal abnormalities in fetuses with omphalocele; abnormal karyotypes were significantly associated with the absence of liver from the omphalocele sac and sonographically detectable concurrent malformations in this series. Sonographers should also be aware that omphaloceles that contain bowel alone tend to be small and can be missed or mistaken for other abdominal wall defects (gastroschisis or umbilical hernia).
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PMID:Chromosomal abnormalities in fetuses with omphalocele. Significance of omphalocele contents. 266 55


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