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Biomedical subjects

C M Bilardo

Publications and source records attributed to C M Bilardo.

At least 37 records · Page 2Linked to original sources
PubMed2000

The influence of fetal position on nuchal translucency thickness.

OBJECTIVE: To determine whether nuchal translucency thickness is influenced by the fetal position at ultrasound examination. SUBJECTS: Transabdominal ultrasound examination for pregnancy dating and measurement of nuchal translucency thickness was performed at 10-14 weeks' gestation in all women attending the antenatal clinic of our hospital. During the examination special attention was paid to a change in fetal position from prone to supine or vice versa. METHODS: For each fetus the nuchal translucency measurement was repeated when a positional change from prone to supine or vice versa was recorded. All measurements were recorded on hard copy. An image-scoring method was used and evaluated by three independent reviewers. RESULTS: Eighty-five fetuses were included in this study. The mean nuchal translucency for supine fetuses was 1.91 mm compared with 1.93 mm for prone fetuses. The mean quality-score was 6.54 for supine fetuses and 6.55 for prone fetuses. This difference was not statistically significant. CONCLUSION: Fetal position has no influence on the measurement of nuchal translucency.

Female↗
PubMed1999

Early pregnancy screening for fetal aneuploidy with serum markers and nuchal translucency.

We determined the aneuploidy detection rate achievable by early pregnancy screening with pregnancy associated plasma protein (PAPP)-A, free beta human chorionic gonadotrophin (hCG) and ultrasound nuchal translucency (NT) measurement. Women having prenatal diagnosis were scanned, and a blood sample was taken and stored. Stored samples were tested and a total of 37 were found to have Down syndrome, 8 to have Edwards syndrome and 255 were controls. Results were expressed in multiples of the gestation-specific median (MOM) value in the controls after regression and, for the serum markers, maternal weight adjustment. In Down syndrome the medians were for PAPP-A 0.63 MOM (95 per cent confidence interval (CI) 0.45-0.87); free beta-hCG 1.88 MOM (1.33-2.66); and NT 2.34 MOM (1.70-3.22). Using these parameters the expected detection rate for a 5 per cent false-positive rate for different marker combinations were: 55.3 per cent for PAPP-A and free beta-hCG; 68.4 per cent for NT alone; and 84.6 per cent for PAPP-A, free beta-hCG and NT. The median values for Edwards syndrome were: 0.17 MOM for PAPP-A; 0.18 MOM for free beta-hCG; and 2.64 MOM for NT. Early pregnancy screening with the combined measurement of maternal serum PAPP-A and free beta-hCG and fetal nuchal translucency could achieve a high Down syndrome detection rate.

Aneuploidy↗
PubMed1999

Pregnancy outcome and nuchal translucency measurements in fetuses with a normal karyotype.

The aim of this study was to examine the relationship between nuchal translucency thickness and pregnancy and fetal outcome in fetuses with a normal karyotype and without structural malformations. Fetal nuchal translucency measurements were performed in 2088 chromosomally and structurally normal fetuses. In all fetuses the karyotype and pregnancy outcome were known. Likelihood ratios for different outcome measures were calculated. Spontaneous abortion, intra-uterine and neonatal death occurred in 2.4, 1.1 and 0.5 per cent respectively. The incidence of immature delivery was 1.1 per cent and of premature delivery 6.0 per cent. The only adverse pregnancy outcome recorded that was associated with increased nuchal translucency was spontaneous abortion. The likelihood ratio for the occurrence of a spontaneous abortion was 3.1 for measurements between 3.0 and 3.9 mm, and 6.8 for measurements>/=4 mm. Increased lethality in fetuses with enlarged nuchal translucency and normal chromosomes may provide evidence that the same insult causing excessive fluid collection in the nuchal region may also be responsible for fetal demise.

Abortion, Spontaneous↗
PubMed1999

Effect of study design on the association between nuchal translucency measurement and Down syndrome.

OBJECTIVE: To evaluate the effect of verification bias on the accuracy of first-trimester nuchal translucency measurement for Down syndrome detection. METHODS: We used MEDLINE and EMBASE to identify all papers relating the results of nuchal translucency measurement to fetal karyotype. The detected studies were scored for verification bias. Fifteen studies without and ten with verification bias were included. RESULTS: Sensitivity and specificity were calculated for each study. For studies with verification bias, adjusted estimates of the sensitivity were calculated assuming a fetal loss rate for Down syndrome pregnancies of 48%. The sample size weighted sensitivity was 55% in studies without and 77% in those with verification bias, for specificities of 96% and 97%, respectively. After adjustment for verification bias, the sample size weighted sensitivity changed from 77% to 63%. CONCLUSION: Studies with verification bias reported higher sensitivities, but also slightly higher specificities of nuchal translucency measurement than studies without verification bias. The difference in sensitivity is greater than could be explained by verification bias. We postulate that the experience of the sonographist might be an explanation for the differences.

Down Syndrome↗
PubMed1999

Enlarged nuchal translucency and low serum protein concentrations as possible markers for Zellweger syndrome.

We present a case of a fetus in which an enlarged nuchal translucency was detected at 12 weeks' gestation. The karyotype was normal. Subsequent ultrasound examination showed no obvious fetal abnormalities apart from a mild pericardial effusion. Serum screening revealed very low concentrations of estriol and human chorionic gonadotropin. After birth the diagnosis of Zellweger syndrome was made. Nuchal translucency screening, estriol level identification and detailed ultrasound scanning may help to identify fetuses affected by this syndrome.

Adult↗
PubMed1999

First-trimester non-invasive prenatal diagnosis of triploidy.

We report a case of fetal triploidy in which fetal nucleated red blood cells were isolated from the maternal peripheral circulation at 12 weeks' gestation. FISH analysis with X and Y specific probes revealed three hybridization signals for the X chromosomes in 14 cells. The karyotype as established after CVS was shown to be 69,XXX. Two other non-invasive first-trimester screening methods were also evaluated. The serum markers pregnancy-associated plasma protein A (PAPP-A) and the free beta-chain of chorionic gonadotrophin (free beta-hCG) were both shown to be decreased in the same blood sample. An enlarged nuchal translucency (5 mm > or =95th centile) was seen at 13+2 weeks of gestation.

Adult↗
PubMed1998

Weekly nuchal translucency measurements in normal fetuses.

OBJECTIVE: To examine the longitudinal course of nuchal translucency thickness by weekly measurements between 10 and 15 weeks' gestation in normal fetuses. METHODS: Nuchal translucency was measured weekly from 10 to 15 weeks' gestation in 64 fetuses with normal pregnancy outcome. The median and the fifth, 25th, 75th, and 95th percentiles were calculated. RESULTS: Nuchal translucency measurements varied considerably with gestational age; this variation followed a fetus-specific pattern. In 94% of cases, we observed an increase followed by a steady decrease in nuchal translucency measurement. A visible nuchal translucency was found after 76 and 86 days' gestation in 97% (95% confidence interval [CI] 89, 100) and 100% (95% CI 94, 100) of the fetuses, respectively. The median nuchal translucency increased from 0.7 mm at 70 days' gestation to 1.7 mm at 91 days' gestation, after which it declined to 1.0 mm at 105 days' gestation. CONCLUSION: A progressive increase and subsequent decrease in nuchal translucency thickness occurs with advancing gestation in most fetuses, but the timing of the peak thickening appears to be fetus-specific. In this study, each fetus developed a visible nuchal translucency. If the nuchal translucency measurement is 0 mm before 12 weeks, it may be advisable to repeat the measurement at 12 weeks' gestation. In contrast, a nuchal translucency that cannot be measured from 12 weeks' gestation onward suggests that this temporary anatomic entity is already in its waning phase.

Adult↗
PubMed1998

Outcome of fetuses with enlarged nuchal translucency and normal karyotype.

The aim of this study was to examine the relationship between nuchal translucency measurements and outcome of pregnancy with special regard to fetuses with an enlarged nuchal translucency and a normal karyotype. Fetal nuchal translucency measurements were performed on consecutive mothers attending the prenatal diagnosis center of our hospital. A complete follow-up was obtained in 88.4% of the cases. Of the 74 fetuses (4.4%) with an enlarged nuchal translucency (> or = 3 mm), 25 (33.8%) had an abnormal karyotype. Two pregnancies ended in a spontaneous abortion before karyotyping was performed. In the remaining 47 eukaryotic fetuses with enlarged nuchal translucency, five (10.6%) had a structural anomaly, two were affected by genetic syndromes (4.2%) and an additional four fetuses (8.5%) were affected by a single-gene disorder. A spontaneous abortion or an intrauterine death occurred in 6.4% and in 2.1% of these fetuses, respectively. The total incidence of an unfavorable outcome in the group of chromosomally normal fetuses with enlarged nuchal translucency was 32%. In contrast, in the group with a normal nuchal translucency (< 3 mm), the incidence of an unfavorable outcome was 7.5%. There is a strong association between enlarged nuchal translucency measurements and congenital (structural and genetic) abnormalities, as assessed by receiver operator characteristic analysis. This may represent, in fetuses with a normal karyotype, a non-specific sign of a disturbance in the developmental process. In these cases, detailed ultrasound surveillance is recommended.

Adult↗
PubMed1998

Screening for Down's syndrome by fetal nuchal translucency measurement in a high-risk population.

OBJECTIVE: To examine the discriminative capacity of nuchal translucency measurement in the detection of trisomy 21 and other chromosomal anomalies. DESIGN: Prospective cohort study. SUBJECTS: A total of 2247 women with viable singleton pregnancies between 10 and 14 weeks' gestation attending a prenatal diagnosis center for fetal karyotyping. METHODS: The fetal nuchal translucency was measured transabdominally in all women before invasive prenatal testing. RESULTS: Chromosomal abnormalities were found in 63 fetuses, including 36 with Down's syndrome. The likelihood of the presence of chromosomal abnormalities increased with larger nuchal translucency thickness. A nuchal translucency of 3 mm or more identified 25 out of 36 fetuses (69%) with trisomy 21 at the expense of a 4.0% false-positive rate. Correction of nuchal translucency measurements for differences due to variation of the measurement with gestational age, either by using the 'delta-value' or multiples of the median (MoM), did not improve the detection rate in our patient data set. CONCLUSIONS: The discriminative capacity of nuchal translucency measurement makes it a useful tool in screening for trisomy 21 and other chromosomal anomalies.

Adult↗
PubMed1998

Screening for Down's syndrome by fetal nuchal translucency measurement in a general obstetric population.

OBJECTIVE: To examine the effectiveness of nuchal translucency measurement in the detection of trisomy 21 in a low-risk population. DESIGN: Prospective cohort study. SUBJECTS: A total of 1473 women with viable singleton pregnancies between 10 and 14 weeks' gestation attending an antenatal clinic for routine obstetric care. METHODS: The fetal nuchal translucency was measured in all women. Fetal karyotyping was performed for the usual indications and in cases of a nuchal translucency measurement > or = 3 mm. RESULTS: Down's syndrome was found in nine fetuses (0.6%). Screening by maternal age would have diagnosed six out of nine fetuses (67%) with trisomy 21 for an invasive testing rate of 24%. Because the actual uptake of prenatal diagnosis for maternal age was 79%, only 44% of the Down's syndrome fetuses would have been detected prenatally by this screening method. A nuchal translucency of 3 mm or more identified 67% of the fetuses with trisomy 21, for an invasive testing rate of 2.2%. The combination of nuchal translucency thickness, corrected for the influence of gestation by 'delta-value' and maternal age performs differently according to the chosen cut-off point for adjusted risk. A minimum risk of 1 : 100 would detect 78% of the Down's syndrome fetuses for a testing rate of 8.1%. By offering karyotyping to all women with a post-test risk of 1 : 300, the detection rate would increase to 100% with an invasive testing rate of 19.8%. This is lower than the invasive testing rate of maternal age screening. CONCLUSIONS: These data suggest that nuchal translucency measurement is an effective screening method for trisomy 21 in an unselected obstetric population.

Adolescent↗
PubMed1997

Transient increase in nuchal translucency thickness and reversed end-diastolic ductus venosus flow in a fetus with trisomy 18.

In a twin pregnancy discordant for trisomy 18, the affected fetus at 13 weeks' gestation had an increased nuchal translucency thickness and reversed end-diastolic ductus venosus flow. At 20 weeks' gestation there was no nuchal edema and Doppler study of the central venous vessels demonstrated normal waveforms. The findings support the hypothesis that one of the mechanisms in the development of increased nuchal translucency is temporary cardiac strain.

Adult↗
PubMed1995

Nuchal translucency measurement in normal fetuses.

OBJECTIVE: To construct a normal range for the nuchal translucency measurement in chromosomally and phenotypically normal fetuses between 9 and 14 weeks' gestation. METHODS: The nuchal translucency was measured prospectively in 771 chromosomally normal fetuses of women attending our antenatal clinic or prenatal diagnosis center. The nuchal translucency measurement was expressed as the median and fifth, 25th, 75th, and 95th percentiles according to completed weeks of gestation based on ultrasound measurements. RESULTS: The median nuchal translucency measurement increased from 0.7 mm at 10 weeks' gestation to 1.5 mm at 13 weeks. A nuchal translucency measurement greater than 2.5 mm was found in 4.6% of the fetuses at 10 weeks' gestation; the incidence increased to 8.7% at 14 weeks. CONCLUSION: In normal fetuses, there is a physiologic variation in the nuchal translucency measurement between 9 and 14 weeks' gestation. The calculation of risk for trisomies based on this measurement should take this variation into account. The adoption of a gestational age-dependent cutoff point, based on the deviation of a given measurement from the median, may reduce the number of false-positive test results requiring invasive procedures for karyotyping.

Adolescent↗
PubMed1991

Doppler study of the fetal circulation during long-term maternal hyperoxygenation for severe early onset intrauterine growth retardation.

In 21 severely growth-retarded, hypoxemic fetuses at 22-30 weeks' gestation, the effect of long-term maternal hyperoxygenation on serial Doppler measurements of the fetal descending thoracic aorta mean velocity (Vm), common carotid artery pulsatility index (PI) and umbilical artery PI was investigated. The treatment was continued on average for 4 weeks and delivery, at 26-34 weeks, was decided for fetal or maternal indications. In the subgroup of 12 fetuses that survived, the mean aortic V(m) increased within 72 h of maternal hyperoxygenation. This increase continued for 1-8 weeks, after which there was a decrease to pretreatment values. In the subgroup of neonatal deaths (n = 5)) there was a non-significant increase in mean aortic V(m). In the subgroup of intrauterine deaths (n = 4), there was a non-significant trend for continuing deterioration in mean aortic V(m) throughout the period of maternal hyperoxygenation. The mean carotid PI did not change significantly in any of the subgroups during maternal hyperoxygenation. However, in the subgroup that survived there was a tendency for improvement and in the subgroup of intrauterine deaths a tendency for deterioration. The mean umbilical artery PI did not change significantly in any of the groups or subgroups during maternal hyperoxygenation. Therefore, measurement of aortic V(m) is a useful indicator of fetal response to maternal hyperoxygenation and its increase constitutes a favorable prognostic factor.

Journal Article↗