Addition of color Doppler to the routine obstetric sonographic survey aids in the detection of pulmonic stenosis.

OBJECTIVE: Most fetuses with congenital heart disease (CHD) occur in women that are not at increased risk, and since it is impractical to perform detailed fetal echocardiography on everyone, detection of CHD relies mainly on routine second trimester fetal anatomic surveys. We therefore attempted to improve the detection rate of CHD at the time of routine second trimester obstetrical sonography in low-risk patients. METHODS: This was a retrospective review of an 18-month period in which color Doppler was added to the standard grey scale evaluation of the fetal heart at the time of our routine second trimester anatomic surveys that we performed on fetuses at low risk for CHD. Cases in which CHD was suspected were reviewed with special attention to those in which abnormalities on color Doppler were the primary finding. RESULTS: CHD was suspected in 17 of 1,766 (1%) routine fetal anatomic surveys that we performed between 16 and 22 weeks. There were 13 cases with findings on grey scale, and 4 cases (24%) that relied on findings with color Doppler, as the grey scale evaluation was normal or near normal. Of these 4 cases, 3 had critical pulmonic stenosis requiring balloon valvuloplasty shortly after birth; the fourth case had a mildly dysplastic pulmonic valve that did not require intervention in the immediate newborn period. CONCLUSIONS: The addition of color Doppler evaluation of the fetal heart to routine obstetrical sonographic structural surveys in low-risk patients aids in the detection of pulmonic stenosis.

Impact of first-trimester aneuploidy screening in a high-risk population.

OBJECTIVE: To determine the impact on maternal decision-making of offering first-trimester screening to women at increased risk for fetal aneuploidy. METHODS: A retrospective chart review of all patients > or = 35 years of age at delivery who registered to deliver at Massachusetts General Hospital before (2000-2002; n = 1,604) and after (2003-2005; n = 1,915) the introduction of first-trimester screening. Demographics, the choice of screening test and/or invasive procedure (chorionic villus sampling or amniocentesis), and the detection rate of fetal aneuploidy were compared between the two groups by chi(2) test. Aneuploid newborns without an antenatal diagnosis were reviewed in detail. RESULTS: The fraction of women who accepted prenatal screening and/or an invasive procedure increased from 1,122/1,604 (70%) to 1,751/1,915 (91%, p < 0.01) after the introduction of first-trimester screening. Fewer invasive procedures were done in the second time period, due to a decrease from 40 to 14% in the fraction of women going straight to an invasive procedure without screening (p < 0.01). Similar numbers of aneuploid fetuses were detected prenatally in the two time periods: 21/22 (95%) in the first time period and 22/25 (88%) in the second (p = 0.36). All 4 cases not prenatally diagnosed involved the patient's decision to decline screening or ignore positive screening results. CONCLUSION: The introduction of first-trimester screening in a high-risk population was associated with an increase in the acceptance of prenatal screening and a reduction in the invasive procedure rate without a concomitant decrease in the detection of fetal aneuploidy.