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Biomedical subjects

G Boog

Publications and source records attributed to G Boog.

107 records · Page 6Linked to original sources

Prenatal diagnosis of tetraploidy.

A pregnancy was terminated at 24 weeks of amenorrhea when tetraploidy (92 XXXX) was diagnosed in fetal blood subsequent to ultrasonographic detection of a polymalformation syndrome. The severity of the neurological deficit in tetraploid infants and their death before 2 years of age require that prenatal diagnosis by cordocentesis be performed for analysis of fetal blood in cases of equivocal and nonspecific polymalformation syndrome and justify that medically-induced termination of pregnancy is suggested in the event of intrauterine tetraploidy diagnosis.

Abnormalities, Multiple↗

Management of platelet and RhD maternal immunizations by PCR phenotypings after early amniocentesis.

This study evaluates the possibilities of prenatal diagnosis of maternofetal platelet and anti-RhD incompatibilities by using molecular typing on amniocytes. Twenty-four amniocenteses were performed between 15 and 35 weeks of gestation (WG), 19 times for study of the fetal karyotype and 5 times because of anti-D immunization. HPA-1, HPA-3 and HPA-5 platelet phenotypes using PCR-RFLP and RhD phenotypes using amplification-refractory mutation system PCR were assessed in amniotic fluid and compared with those of fetal (15 times) or newborn (9 times) blood and with parental phenotypes (46 blood samples). The four phenotypes were always determined in amniocytes, and no discrepancies with fetal blood or parental phenotypes were noted. The reliability and low iatrogenicity of this method makes it suitable for amniocentesis from 15 WG onward in any woman whose spouse is likely to be heterozygous. These allow radical change with a clear beneficial effect in obstetrical care of immunized women.

Adult↗

Russell-Silver syndrome: an explanation for discordant growth in monozygotic twins.

Severe intrauterine growth retardation and suggestive dysmorphic and malformation syndrome in 1 twin with a normal karyotype during a monozygotic, monochorionic pregnancy led to the diagnosis of discordant Russell-Silver syndrome (RSS). Placental anomalies (velamentous cord insertion, single umbilical artery, placental hypotrophy) for the small-for-date twins and a twin-twin transfusion syndrome confirmed at 21 weeks of amenorrhea suggest that early hemodynamic disorders may reveal or trigger RSS which has been considered to be of genetic origin. The prognosis for RSS is favorable, except for diminished adult size (less than -2 standard deviations).

Adult↗

[Intraventricular hemorrhage in utero].

A case of fetal intraventricular hemorrhage related to subependymal hemorrhage diagnosed by ultrasound scanning at 27 weeks of PMA is reported. No etiology was found. The outcome was favorable. This case suggests that some cases of neonatal idiopathic hydrocephalus may be explained by fetal subependymal/intraventricular hemorrhage.

Blood Coagulation Disorders↗

[Fetal and neonatal supraventricular paroxysmal tachycardias].

The authors report 3 cases of fetal supraventricular tachycardia which carried on into neo-natal life. In one case the tachycardia was discovered in the 35th week of amenorrhoea and was able to be followed up to term. In this respect the means of making a definite diagnosis are as follows : a cardiotocogram when one happens to be able to observe the beginning or the end of an attack (in which case a definite "plateau" shape is found) and especially a fetal electrocardiogram obtained transparietally in pregnancy or by means of an internal electrode in labour. Supraventricular tachycardia is usually of marked degree and comes in isolated episodes and is not to be confused with tachycardia that is found accompanying fetal distress, occurring in pathological pregnancies. The obstetrician can therefore delay while carrying out intensive supervision of the case, which is particularly directed to searching for signs of generalised feto-placental oedema. After birth the child should be transferred to an intensive care unit where the tachycardia, if it persists, should be reduced in order to avoid serious asystolies. The outlook for the baby if there is no congenital malformation is good, since the trouble with the cardiac rhythm is usually a reflection of lack of maturity in the cardiac conduction tissues.

Electrocardiography↗