Can prenatal detection of Down syndrome be improved by enhancing obstetricians’ skills of performing adequate foetal cardiac examination at the primary level?a
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Ksenija Gersak
Abstract
Aims: To evaluate the prevalence of congenital heart defects (CHDs) in live-born infants with Down syndrome (DS) and to investigate whether these CHDs might be detected during routine second trimester ultrasound screening performed at the primary level.
Methods: A retrospective analysis of 66 cases of DS in live-born infants. The infants with DS underwent a detailed echocardiographic examination to evaluate cardiac morphological characteristics and function.
Results: Thirty-six live-born DS infants (54.5%) had associated CHDs. According to the apical four-chamber view at the first postnatal echocardiographic examination, we estimated that 20 (55.6%) of the 36 patients with associated CHDs should have been identified during the routine second-trimester prenatal scan [17 infants with complete atrioventricular septal defect (AVSD), two with partial AVSD, and one with non-restrictive perimembranous ventricular septal defect] if the results had been correctly interpreted. An additional seven patients with associated CHDs should have been identified if the evaluation of both outflow tracts had been included into the screening protocol.
Conclusion: Our data suggest that the prenatal DS detection rate can be significantly increased by improving obstetricians’ skills of performing adequate foetal cardiac examination as part of the routine 18- to 23-week ultrasound examination at the primary level.
The authors stated that there are no conflicts of interest regarding the publication of this article.
S.V. was supported in part by the Slovenian Agency for Research (grant no. P3-0343). We would like to thank Ms. Mojca Pirc for the revision of the English text.
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Ethics approval: The study design was approved by the national medical ethics committee of the Republic of Slovenia (no. 108/09/09).
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Articles in the same Issue
- Masthead
- Masthead
- Review
- The diagnosis of rupture of fetal membranes (ROM): a meta-analysis
- Original Articles – Obstetrics
- Differential proteolysis of insulin-like growth factor binding protein-1 (IGFBP-1) in pregnancy
- Hyperoxic resuscitation after hypoxia-ischemia induces cerebral inflammation that is attenuated by tempol in a reporter mouse model with very young mice
- Prenatal maternal stress predicts cord-blood ferritin concentration
- Puerperal curettage after cesarean section delivery
- Psychological reactions related to fetal magnetic resonance imaging: a follow-up study
- Ethnic disparity in amniotic fluid levels of hyaluronan, histone H2B and superoxide dismutase in spontaneous preterm birth
- Mode of delivery in a subsequent pregnancy following previous instrumental delivery
- Original Articles – Fetus
- Pregnancy and neonatal outcome following an antenatal diagnosis of cleft lip and palate
- Genetic low nephron number hypertension is associated with altered expression of osteopontin and CD44 during nephrogenesis*
- Pharmacovigilance in pregnancy: adverse drug reactions associated with fetal disorders
- Expectant management in type II selective intrauterine growth restriction and abnormal chord insertion in monochorionic twins
- Can prenatal detection of Down syndrome be improved by enhancing obstetricians’ skills of performing adequate foetal cardiac examination at the primary level?a
- Original Articles – Newborn
- The national perinatal mortality rate in the State of Qatar during 2011; trends since 1990 and comparative analysis with selected high-income countries: The PEARL Study Project*
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