Incidence of major structural cardiac defects associated with increased nuchal translucency but normal karyotype

Objective: To examine the association between increased nuchal translucency thickness and major cardiac defects in chromosomally normal fetuses. Setting: Tertiary referral unit for fetal medicine and fetal cardiology. Methods: During a 4-year period (January 1997 to January 2001), detailed echocardiography was performed in 1319 chromosomally normal fetuses with increased nuchal translucency thickness at 10-14 weeks of gestation. The incidence of major cardiac defects was examined in relation to the fetal NT at the 10-14-week scan. Results: Major cardiac defects were diagnosed in 60 (4.5%) of the 1319 fetuses. In fetuses with a nuchal translucency thickness in the range of 2.5-3.4 mm, the incidence of major cardiac defects was 2.5% (18/722; 95% confidence interval, 1.5-3.9) and in those with a nuchal translucency thickness ≥3.5 mm, it was 7% (42/597; 95% confidence interval, 5.1-9.4). Conclusion: Specialist echocardiography is indicated in all fetuses with increased nuchal translucency thickness because, in such fetuses, the incidence of major cardiac defects is substantially higher than in pregnancies with maternal diabetes, family history and exposure to drugs, where fetal echocardiography is widely considered to be necessary

Atrioventricular septal defects diagnosed in fetal life: Associated cardiac and extra-cardiac abnormalities and outcome

AbstractOBJECTIVESWe sought to establish the outlook for fetuses diagnosed with atrioventricular septal defect (AVSD) prenatally and its relation to additional cardiac, extracardiac and chromosomal abnormalities.BACKGROUNDPrediction of likely outcome of AVSD presenting prenatally is complicated by the wide variation in associated features.METHODSComputerized records from 14,726 pregnancies referred to a fetal cardiology center were reviewed retrospectively. Pathological reports, postnatal records, follow-up inquiries and review of echocardiographic video recordings supplemented analysis of the records for all those with AVSD.RESULTSAtrioventricular septal defect was confirmed in 301 fetuses. Eighty-six (39%) of the 218 with known karyotype had trisomy 21, and 21/218 (10%) had other chromosome abnormalities. Right isomerism occurred in 37/301 (12%) fetuses, left isomerism in 62 (20%), mirror image atrial arrangement in 2 (1%), and 200 (67%) had usual arrangement. Atrioventricular septal defect occurred without any other intracardiac abnormality in 155 fetuses (51%). Extracardiac abnormalities and nonkaryotypic syndromes were evident in 40 fetuses (13%, confidence interval [CI] 9.5–17.1%). Uncomplicated cardiac anatomy was significantly associated with the presence of karyotype abnormality (p < 0.0001). Parents opted for termination of pregnancy in 175/298 (58.5%). For the continuing pregnancies, Kaplan-Meier estimates for live birth, survival past the neonatal period and survival to three years were 82% (CI 75.3–88.9%), 55% (CI 46.0%–64.3%) and 38% (CI 27.1–48.6%), respectively. Fetal hydrops and earlier year of diagnosis were independent variables with adverse influence on survival.CONCLUSIONSDespite some improvements in the outlook for AVSD diagnosed prenatally, the overall prognosis remains considerably poorer than that implied from surgical series. The detection of associated cardiac and extracardiac abnormalities is important in order to give the best indication of the likely outcome when counseling parents