Fetal cardiac abnormalities and their association with aneuploidy

Yates, Robert

doi:10.1002/(sici)1097-0223(199906)19:6<563::aid-pd605>3.0.co;2-m

Cited by 17 publications

(10 citation statements)

References 9 publications

(10 reference statements)

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“…Conotruncal anomalies are characterised by a defect in the conotruncal septum and include such anomalies as TOF, DORV, common arterial trunk (CAT), VSD with overriding aorta, transposition of the great arteries (TGA) and absent pulmonary valve syndrome (APVS). Clearly, the diagnostic accuracy of these more complex conditions on a simple 4-chamber view is poor (Yates, 1999;Sharland et al, 1992). Although with more detailed echocardiography in specialised centres the accuracy of detection of conotruncal anomalies is high (Tometzki et al, 1999), the wide variation in the detection of these defects is due to differences in screening protocols.…”

Section: Conotruncal Anomaliesmentioning

confidence: 99%

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Congenital heart disease and aneuploidy

Wimalasundera

Gardiner

2004

Prenatal Diagnosis

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Congenital heart disease (CHD) is one of the commonest prenatal diagnoses made on routine ultrasound screening. Overall, up to 33% of CHD are associated with fetal aneuploidy. However, some specific cardiac lesions have a significantly greater association with particular chromosomal abnormalities. The majority of fetuses with CHD and aneuploidy also have extra-cardiac anomalies and are best managed by a multidisciplinary team where the management and prognosis of the cardiac defect can be discussed in the context of the baby as a whole. It is therefore important for clinicians involved in the management of fetuses with CHD to be aware of the association of aneuploidy as well as the prognosis and management of these cases, so that they can appropriately counsel the parents. In this chapter, we review the frequency and types of aneuploidy associated with the commonly diagnosed CHD and discuss their management.

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Section: Conotruncal Anomaliesmentioning

confidence: 99%

“…The commonest encountered CHD associated with aneuploidy is an AVSD with trisomy 21 (Yates, 1999). These fetuses often have an isolated cardiac defect, and those that survive until birth have a high postnatal survival rate (83%, (Delisle et al, 1999)).…”

Section: Perinatal Management Of Chd With Aneuploidymentioning

confidence: 99%

Congenital heart disease and aneuploidy

Wimalasundera

Gardiner

2004

Prenatal Diagnosis

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“…Cardiac development is regulated by complex mechanisms involving interaction between genetic and environmental factors. The association of chromosomal aberration and cardiovascular malformation is largely recognized [6,7]; ventricular septal defects, atrioventricular septal defects, hypoplastic left heart, tetralogy of Fallot and double outlet right ventricle are associated with the highest rates of chromosome abnormalities [8][9][10]. In Down's syndrome, the incidence of cardiovascular malformation is reported to be about 40% [11], and the isolated ventricular septal defect is the commonest lesion found in fetuses with Down's syndrome.…”

Section: Discussionmentioning

confidence: 99%

Evaluation of the Fetal Heart Rate during Amniocentesis in Fetuses with Normal and Abnormal Karyotype

Hadzi-Lega¹,

Daneva-Markova²,

Sozovska³

2014

Macedonian Medical Review

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Introduction. We monitored the fetal heart rate (FHR) during amniocentesis in fetuses at 16-22 weeks of gestation and investigated whether an abnormal FHR was associated with chromosomal abnormalities. Methods. This prospective study involved 600 women at 16-22 weeks of gestation who underwent genetic amniocentesis. The FHR, expressed as beats for minute, was recorded before (FHR1), immediately after (FHR2) and 60 min after (FHR3) the invasive procedure. Structural malformations detected by ultrasound and multiple pregnancy were excluded from the study. Results. Chromosomal abnormalities have been diagnosed in 27 fetuses. Mean FHR decrease after amniocentesis has been observed in normal and in abnormal fetuses. The mean variation during amniocentesis was significant in both groups (P<0.01). The comparison between the mean FHR of the two groups showed no differences in FHR1 and FHR2 (P>0.05) but a significant difference in FHR3 (P<0.05). Conclusion. The FHR decreased after amniocentesis; the decrease was larger in chromosomally abnormal fetuses than in normal fetuses. This difference in heart rate reaction to amniocentesis might be due to cardiac defects or developmental delay associated with the abnormal karyotype.

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“…The association of chromosomal aberration and cardiovascular malformation is largely recognized [6,7]; ventricular septal defects, atrioventricular septal defects, hypoplastic left heart, tetralogy of Fallot and double outlet right ventricle are associated with the highest rates of chromosome abnormalities [8][9][10]. In Down syndrome, the incidence of cardiovascular malformation is reported to be about 40% [11], and the isolated ventricular septal defect is the commonest lesion found in fetuses with Down syndrome.…”

Section: Discussionmentioning

confidence: 99%