Maternal reproductive history and the risk of isolated congenital malformations.

We examined the relationship between maternal reproductive history and the newborn's risk of isolated congenital malformations in a large case-control cohort from the Polish Registry of Congenital Malformations. Congenital malformations were classified into four categories: isolated congenital heart defects (n=1673), isolated cleft palate (n=255), cleft lip with or without cleft palate (n=448) and renal agenesis (n=103). The case groups were compared with a shared group of 2068 controls recruited in the same time period and geographic area. Multivariable logistic regression was used to assess the risk associated with maternal gravidity and of previous miscarriages after accounting for maternal age and other potential risk factors. In unadjusted analyses, maternal gravidity was significantly associated with increased risk of all four classes of congenital malformations. After adjustment, a significant association persisted for congenital heart defects [odds ratio (OR)=1.22, [95% confidence interval (CI) 1.09, 1.36], P=0.0007] and cleft lip with or without cleft palate (OR=1.21, [95% CI 1.09, 1.36], P=0.0005). A similar trend existed for isolated cleft palate (OR=1.18, [95% CI 1.02, 1.37], P=0.03). There was no appreciable increase in the risk of congenital malformations associated with a maternal history of miscarriages, but a trend for a protective effect on the occurrence of cleft lip with or without cleft palate was observed (OR=0.72, [95% CI 0.52, 0.99], P=0.045). Based on our data, maternal gravidity represents a significant risk factor for congenital heart defects and cleft lip with or without cleft palate in the newborn infant. Our data do not support an increase in risk because of past history of miscarriages.

[Syndrome of congenital malformations and dysmorphic features in a newborn with partial trisomy 16q due to maternal translocation t(9;16)(p24;q13)]. / Zespól wad wrodzonych i cech dysmorficznych u noworodka z czesciowa trisomia 16q na skutek matczynej translokacji t(9;16)(p24;q13).

A newborn with multiple congenital malformations and a pattern of dysmorphic features (microcephaly, uneven skull surface, exophthalmos, periorbital oedema, clefting of primary and secondary palates, camptodactylia of hands and feet, patent arterial duct, thoracic and spinal malformations, ambiguous external genitals) is described. Partial trisomy of chromosome 16q due to maternal reciprocal translocation t(9;16)(p24;q13) was detected. The risk for the next pregnancy was estimated to be low (below 2.6%).

[Chronology of ultrasonographic course of neonatal intraventricular hemorrhage stage III]. / Chronologie de l'évolution échographique des hémorragies intraventriculaires néonatales de stade III.

During the 1981-90 decade, 31 unilateral grade III intraventricular hemorrhages (III IVH), with controlateral grade I or grade II, and 65 bilateral grade III IVH were detected by brain ultrasound studies in the neonatal intensive care unit of Port-Royal. Varied hemorrhages were present on day 1 in 66% of unilateral III IVH and 72% of bilateral III IVH, and in all cases by day 4. Bilateral grade III was reached only between days 4 and 8 in 32% of cases. Death rate was 35% in unilateral III IVH and 66% in bilateral III IVH. Median dates of observation were: days 2-3, clots in the third ventricle and cisterna magna; days 29-35, disappearance of clots in lateral ventricles; days 2-4, onset of ventricular dilatation; days 15-20, maximal dilatation; days 22-27, onset of regressive dilatation; day 54-3 months, maximal regression of dilatation. The total number of true hydrocephalus was 3/31 in unilateral III IVH and 12/65 in bilateral III IVH. The 20 survivors after unilateral III IVH had 17 regressive dilatations (10 spontaneous and 7 with acetazolamide), 1 hydrocephalus treated by ventriculo-peritoneal shunt (VPS), 2 regressions with late hydrocephalus (2 VPS). The 21 survivors after bilateral III IVH had 19 regressive dilatations (6 spontaneous and 13 with acetazolamide), and 2 hydrocephalus (2 VPS). A late limited dilatation reappeared between 3 and 9 months of age in infants with neonatal periventricular leukomalacias.