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Biomedical subjects

Jo-Ann Johnson

Publications and source records attributed to Jo-Ann Johnson.

7 recordsLinked to original sources

First-trimester screening.

Screening for fetal chromosome abnormalities, particularly for trisomy 21, has made dramatic advances. Better screening demonstrates that "high-risk" patients--particularly over age 35--can have lower risk of defects than younger unscreened women. This has caused reduction of amniocentesis for older patients and made screening available for younger patients who have the universal 2% to 3% risk. This means lower procedural-related losses of normal fetuses, and better resource allocation. The trend toward first-trimester detection of structural defects continues; a normal survey is reassuring and helps exclude major defects. Based on screening results, patients can be triaged into early follow-up and possible amniocentesis as 14 to 16 weeks, or a later detailed anatomic survey at 18 to 20 weeks.

Female↗

Ultrasound detection of fetal anomalies in conjunction with first-trimester nuchal translucency screening: a feasibility study.

OBJECTIVE: The purpose of this study was to determine the effectiveness of a fetal anatomy survey in conjunction with first-trimester nuchal translucency (NT) screening ultrasound in an unselected pregnant population performed by sonographers. STUDY DESIGN: This was a prospective observational study of women presenting for NT screening for chromosomal defects. An anatomic survey was performed after a standardized protocol with a maximum scan time of 30 minutes. RESULTS: Three hundred twenty-five singleton fetuses (11+0 to 13+6 weeks) were examined and pregnancy outcome was available for 300 (92.3%) of cases. In 89 (24.6%) cases, transvaginal ultrasound was performed. The following fetal structures were seen in 95% of cases: cranium and intracranial anatomy, face, cord insertion, stomach, and all 4 limbs. The bladder was visualized in 89.5% of cases, the cardiac 4 chamber view in 84%, and the spine in only 45% of cases. Complete anatomy was seen in 109 (33%). Crown rump length greater than 55 mm and sonographer experience were important factors contributing to anatomic visibility. Of a total of 6 congenital defects in this cohort, 1 was detected in the first trimester (neural tube defect), 4 at the 18- to 20-week anatomic scan, and 1 postnatally. CONCLUSION: A complete anatomy survey was successful in 33% of first-trimester fetuses in a time-limited sonographer based screening program. Since some anomalies are not evident in the first trimester, the 18- to 20-week scan remains the gold standard.

Congenital Abnormalities↗

Fetal cardiac defects and increased nuchal translucency thickness: a prospective study.

OBJECTIVE: The purpose of this study was to examine prospectively the association between increased nuchal translucency thickness and major cardiac defects in chromosomally normal fetuses. STUDY DESIGN: A prospective cohort study of 263 chromosomally normal fetuses with an increased nuchal translucency thickness at 11 to 14 weeks of gestation at a tertiary referral center was performed. The incidence of major cardiac defects was examined in relation to the fetal nuchal translucency thickness at the 11 to 14 week ultrasound examination. RESULTS: The nuchal translucency thickness measurements ranged from 2.2 to 8.0 mm (median, 3.1 mm). There were 13 cases of major cardiac defects in this cohort, which gave a prevalence of 49.4 of every 1000 fetuses. With the use of the 99th percentile of nuchal translucency thickness, the prevalence rose to 106.7 of every 1000 fetuses. CONCLUSION: In this population of chromosomally normal fetuses with an increased nuchal translucency thickness, the incidence of cardiac defects was high, which suggests that fetal echocardiography is indicated in this group.

Adult↗

Psychological responses to prenatal NTS counseling and the uptake of invasive testing in women of advanced maternal age.

This study examines women's psychological responses to prenatal group genetic counseling, and to subsequent individualized risk counseling. All women (N=123) aged 35 and older underwent nuchal translucency screening (NTS), a prenatal ultrasound screening test. After group counseling, decisional conflict decreased significantly among those reporting at baseline having made a decision about invasive testing (t(222)=2.0, P=0.014) and for those who were uncertain (t(222)=5.74, P <0.0005). After receiving NT-adjusted risks, decisional conflict decreased further for those uncertain about testing at baseline (t(222)=4.64, P <0.0005). There was no change in risk perception and anxiety after group counseling. After NT-adjusted risks were communicated, risk perception decreased significantly (t(230)=5.02, P <0.0005), as did anxiety (t(115)=7.91, P <0.005). Despite reassuring NTS results, the uptake rate for prenatal invasive testing was 78.4%. Risk perception, anxiety, and decisional conflict decreased after individual counseling for reassuring NTS results, but the uptake of invasive testing remained high.

Adult↗

The effects of prenatal group genetic counselling on knowledge, anxiety and decisional conflict: issues for nuchal translucency screening.

This study evaluates the effects of prenatal genetic group counselling on women's anxiety, decisional conflict and levels of knowledge. Participants (N=271) were aged 35 years and older. ANOVA results indicated that pre/postcounselling scores for anxiety did not change significantly, while decisional conflict decreased significantly (P<0.001). Pre/postcounselling scores on two different knowledge measures were analysed using 2x3 mixed ANOVAs for time by highest level of education and by having discussed prenatal diagnosis with one's health care provider. No potential interactions were statistically significant; time alone had a strong significant effect for both knowledge measures (P<0.01); P<0.01, respectively), suggesting that the effects of the counselling intervention were robust. Group genetic counselling is an effective method for education and decision support in the prenatal context, and may serve as a model for other clinical populations facing genetic screening decisions.

Adult↗

Detection of fetal structural abnormalities with US during early pregnancy.

Ultrasonography (US) is performed during early pregnancy for dating, determination of the number of fetuses, assessment of early complications, and increasingly for evaluation of the fetus, including measurement of the thickness of the nuchal translucency (NT). Measurement of NT thickness between 11 and 14 weeks gestation, combined with maternal age and maternal serum biochemistry, can be an effective method of screening for trisomy 21 and other chromosomal abnormalities. Furthermore, an increased NT thickness in the presence of a normal karyotype is associated with an increased frequency of structural defects and genetic syndromes. Therefore, this finding is an indication for a more detailed anatomic survey of the fetus. Besides nuchal abnormalities, a wide range of other congenital anomalies can be diagnosed with US at 11-14 weeks gestation, including defects of the central nervous system, heart, anterior abdominal wall, urinary tract, and skeleton. The anatomic survey can be performed with a standardized protocol by using transabdominal US and, when necessary, transvaginal US. A thorough knowledge of the US features of normal fetal development is necessary to avoid potential diagnostic pitfalls.

Abdominal Wall↗