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Objective The aim of our study was to obtain measurements of the jugular vein and carotid artery pulsatility index (PI) at 10–14 weeks' gestation in chromosomally normal and abnormal fetuses with or without increased nuchal translucency (NT), in order to explore whether a relationship exists between increased NT and overperfusion of the head. Methods This was a prospective study involving 179 pregnant women at high risk for chromosomal anomalies or structural malformations who were referred for chorionic villus sampling or first-trimester ultrasound examination at 10–14 weeks' gestation, respectively. Color and pulsed Doppler ultrasound were used to obtain jugular vein and carotid artery blood flow velocity waveforms at the level of the mid-neck. All Doppler measurements were obtained by a single investigator. The PIs of the jugular vein and carotid artery were correlated with NT measurement and fetal karyotype. Results Doppler measurements of the jugular vein and carotid artery were successfully obtained in 90.5% of the fetuses. The fetal karyotype was abnormal in 13 cases, including three trisomies 21 and two trisomies 18, and normal in 149 cases. In the group with normal karyotype the NT was above the 95th percentile in 22 cases (15%). No correlation between the jugular vein or the carotid artery PI and the thickness of the NT was found. There were no significant differences when comparing the values of the jugular vein and carotid artery PI between the group with normal NT and the group with increased NT, or between the group with a normal karyotype and an abnormal karyotype. Conclusion Our results suggest that NT is not related to blood flow impedance in either the carotid artery or the jugular vein. Overperfusion and venous congestion of the head do not appear to be a causative pathophysiological mechanism involved in increased NT. Copyright © 2003 ISUOG. Published by John Wiley & Sons, Ltd.

We describe a case of early prenatal diagnosis of a major congenital heart anomaly and trisomy 18 in a low-risk pregnant woman. Nuchal translucency (NT) measurement at 13 weeks' gestation was 1.2 mm and Doppler evaluation of the ductus venosus detected a persistent reversed flow during atrial contraction. This finding prompted us to perform fetal echocardiography which showed hypoplastic left heart syndrome. Karyotyping following chorionic villus sampling diagnosed trisomy 18. Review of the recent literature suggests that the finding of an abnormal ductus venosus Doppler pattern in the late first trimester of pregnancy may be an early sign of either congenital cardiac or chromosomal abnormality, even in the presence of normal NT screening.

During 1988-1994 in Spain data on 113 primigravidae with pregnancy-induced hypertension were compared with data on 109 age- and parity-matched controls to examine the effect of exposure to spermatozoa on the risk of developing pregnancy-induced hypertension. Both cases and controls delivered at the Hospital Clinic of the University of Barcelona in Spain. Duration of unprotected sexual intercourse was about 50% shorter in cases than controls (2.3 vs. 4.7 months; p < 0.0001) regardless of previous contraceptive method used. In women having no previous exposure to spermatozoa women with pregnancy-induced hypertension had reduced exposure to spermatozoa (i.e. unprotected sexual intercourse) than the controls (2.8 vs. 4.7 months; p < 0.01). In women who had used oral contraceptives (OCs) cases had a significantly shorter duration of unprotected sexual intercourse than controls (2.1 vs. 4.7 months; p < 0.001). Duration of exposure to fathers spermatozoa with condoms had no effect on pregnancy-induced hypertension. Women with pregnancy-induced hypertension were more likely to conceive during the first month of unprotected sexual intercourse than the healthy women (48.6% vs. 25.6%; p < 0.001). They were also more likely to conceive during the first three months of unprotected sexual intercourse than controls (85.8% vs. 54.1%; p < 0.00001). This was especially true for women with preeclampsia (91.5% vs. 54.1%; p < 0.0001) and when compared to those with gestational hypertension (79.6% vs. 54.1%; p < 0.01). These findings do not support the belief that OCs protect against pregnancy-induced hypertension. They suggest that increased exposure to fathers spermatozoa reduces the risk of pregnancy-induced hypertension. In conclusion use of contraception to reduce the risk of pregnancy-induced hypertension is not a likely viable public health option.

The aim of this study was to evaluate the feasibility of transcervical chorionic villus sampling (CVS) after 12 completed weeks of pregnancy. The transcervical route for CVS, using thin biopsy forceps, was accomplished in 335 procedures in the study group, between 12 + 1 and 15 + 0 weeks. Cases were subdivided into two subgroups, the late (13 + 0 to 15 + 0 weeks) and intermediate (12 + 1 and 12 + 6 weeks) subgroups, and the results were compared with a previous series of 1202 early (8 + 0-12 + 0 weeks) transcervical CVS. A successful diagnosis was made in 97.3% of the cases. No differences were found in diagnostic success between the study subgroups, in comparison to the early transcervical CVS series. However, success rates in the study group increased from 90% in the first 60 procedures to 98.9% in the remaining cases (p < 0.001). Amniocentesis was eventually performed in nine cases (2.7%). All cases were rescanned 2 weeks after the procedure, and fetal demise was detected in five cases (1.5%). The spontaneous fetal loss rate up to 28 weeks was 3.1% (2.7% for intermediate and 4.0% for late subgroups). No cases of transverse limb reduction defects were observed. The results of our study suggest that the transcervical route for CVS beyond the 12th week of pregnancy has a satisfactory diagnostic success rate, and an acceptable pregnancy loss rate.

A prospective study of parvovirus B19 infection during pregnancy was conducted at a large teaching hospital in Barcelona, Spain. Women (1610) who were < 28 weeks pregnant at enrollment were screened for parvovirus infection. The prevalence of IgG positivity was 35.03% (564/1610). The incidence of acute infection during pregnancy was 3.7% (60/1610). There were five abortions among the B19-infected women but only one was caused by parvovirus, as assessed by histologic examination and polymerase chain reaction assay. The incidence of fetal loss caused by parvovirus was, therefore, 1.66% (1/60). The remaining 55 pregnancies were uneventful, and at 1 year of age, none of the infants had serious abnormalities. The incidence of vertical transmission of infection was estimated at 25%. This study provides evidence that although acute parvovirus infection may occur relatively commonly during pregnancy, an adverse fetal outcome is a rare complication.

Targeted ultrasonographic screening for nuchal fluid accumulation during the first trimester (9–13 weeks) seems to be a recommendable method for the detection of Down's syndrome and other chromosomal anomalies in pregnant women. It compares favorably with current methods of maternal serum screening performed during the second trimester. Using a 4-mm cut-off value, the detection rate of aneuploidy among our population was found to be 57.1%, with a false-positive rate of 0.7% and a positive predictive value of 72.7%. Chromosomal analysis should be considered for fetuses with nuchal translucency equal to or greater than 4 mm in the first trimester. Copyright © 1995 International Society of Ultrasound in Obstetrics and Gynecology

Objective To assess the natural evolution of nuchal thickness in trisomy 18 fetuses. Methods Serial measurements of nuchal thickness were performed over a 1- to 5-week period in 17 fetuses with trisomy 18, from the 10th to the 20th week of pregnancy. To avoid a confounding effect due to gestational age, nuchal thickness was also expressed in standard deviations (SD) for the corresponding gestational week. In addition, the changes were assessed in terms of the presence of clinically positive thickening, considered as such when its measurement was above 2.5 SD for the corresponding gestational week. Results On the initial nuchal thickness measurement, sensitivity for trisomy 18 decreased from 66% on assessment at 10–13 weeks of gestation to 38% at 14–16 weeks. In serial determinations, a mean increase of 1.3 mm [95% confidence interval (CI), 0.1–2.5] was observed for a mean period of 21 days. When corrected for gestational age, the mean increase of 0.2 SD (95% CI, −1.2 to −1.6) was found to be non-significant. No clinically relevant changes were recorded on re-examination, with nuchal thickening remaining stable in 76% of cases. Conclusion Nuchal thickening at re-examination was observed in a similar proportion of trisomy 18 fetuses as when initially observed. Copyright © 2000 International Society of Ultrasound in Obstetrics and Gynecology

Objective To assess second-trimester screening for trisomy 21 by combining ultrasound nuchal fold (NF) measurement with maternal serum biochemistry. Methods NF, maternal serum α-fetoprotein (AFP) and free β-human chorionic gonadotropin (β-hCG) were determined concurrently at 14–19 weeks’ gestation in a study population comprising 1813 women with singleton pregnancies, including 1257 unselected women undergoing serum screening for trisomy 21 (1999–2002), and 556 high-risk pregnancies prior to amniocentesis (2003–2005), 402 of whom had positive serum screening tests. The results were expressed in multiples of the gestation-specific normal median (MoMs). Results There were 1799 unaffected singleton pregnancies, and their NF values approximately fitted a log Gaussian distribution over a wide range. There was a weak but statistically significant correlation between log NF and log AFP (r =− 0.069, P < 0.005) and the correlation coefficient between log NF and log free βhCG was even smaller and not statistically significant (r = 0.038, P = 0.11). Among the seven trisomy 21 pregnancies, the median NF level was 1.53 MoM (geometric mean 1.75 MoM), a highly statistically significant increase compared with unaffected pregnancies (P < 0.0001, onetail Wilcoxon Rank Sum Test). In pregnancies referred because of positive serum screening tests (391 unaffected, seven cases of trisomy 21, one of monosomy X and three other chromosomal anomalies) the use of NF to modify the serum screening risk would have reduced the invasive procedures in unaffected pregnancies by 46% without affecting the detection rate of trisomy 21 or other anomalies. Statistical modeling predicted that adding NF to AFP and free β-hCG would increase detection more than would adding unconjugated estriol as well as inhibin-A, an analyte that is difficult to measure with precision. Conclusions The addition of NF measurement to second-trimester biochemical markers improves screening performance, and could overcome drawbacks in the implementation of inhibin-A assay in clinical practice. Copyright  2007 ISUOG. Published by John Wiley & Sons, Ltd.

Doppler velocimetry of the umbilical artery was carried out during routine ultrasound examinations performed immediately before either chorionic villus sampling (n = 383) or genetic amniocentesis (n = 649) in 1032 women referred for prenatal diagnosis at our institution, between 10 and 18 weeks of gestation. Reversed end-diastolic flow was detected in only two cases (0.19%), both of which were affected by trisomy 18. The diagnosis was made at 10 weeks' gestation and, to our knowledge, these are the earliest records of this pathological Doppler pattern. Although a possible relationship with early abnormal placentation remains to be established, the finding of reversed end-diastolic velocities in the umbilical artery in the first trimester of pregnancy may be an early sign of karyotype abnormality.

The aim of our study was to determine the pulsatility index (PI) of the umbilical artery velocity waveform obtained from the fetal insertion, the placental insertion and a free floating loop of the umbilical cord. This was a prospective study involving 60 consecutive singleton pregnancies undergoing ultrasound examination between 10 and 13 weeks' gestation. Doppler measurements were obtained transvaginally from the placental and the fetal abdominal insertion, and from a free floating loop of umbilical cord. Chromosomal abnormalities and structural malformations detected by ultrasound were excluded. A multi-way analysis of variance did not show significant differences between the measurements of umbilical PI at the different sites of the umbilical cord and Pearson's coefficient showed an excellent correlation between them. No significant intra- and interobserver differences were found. In conclusion, measurements of Doppler velocimetric indices of the umbilical artery during the first trimester are not influenced by the recording site and these recordings are reproducible at this stage of gestation.

Objective Our aim was to determine the potential value of fetal echocardiography at 13–16 weeks of gestation for early reassurance of normality or a prenatal diagnosis of congenital heart disease in high-risk pregnant women. Methodology 92 pregnant women from 13 to 16 weeks with singleton pregnancies underwent fetal echocardiography because of a high risk of congenital heart disease. The main indications were: nuchal translucency > 95th centile, pregestational diabetes, family history, suspected cardiac anomaly at screening ultrasound, woman at risk of chromosomal abnormality declining invasive testing and fetus affected by a chromosomal abnormality. All the examinations were performed combining either the transvaginal or the transabdominal route, and were considered as complete when the four chamber view, and the origin and double crossing of the great arteries were correctly identified. Colour and pulsed Doppler examination were used to detect regurgitation or very high velocities suggesting valve stenosis. A further conventional transabdominal echocardiography at 20–22 weeks of gestation was performed in all aparently normal cases. Results We were able to reassure normality in 84 of the cases and eight congenital heart anomalies were diagnosed. Conclusion Fetal echocardiography at 13–16 weeks' is feasible and can be offered to high risk pregnants. It should be supplemented with the conventional 20–22 weeks' examination whenever normality is diagnosed in the early scan. Postmortem examination is essential to confirm its accuracy.

Objective To determine the value of first trimester screening for congenital heart disease by measurement of nuchal translucency at 10–14 weeks of gestation. Methodology A transabdominal echocardiography at 20–22 weeks of gestation was performed in 104 singleton pregnancies with chromosomally normal fetuses and an increased nuchal translucency (> 95th centile) at 10–14 weeks. In the last 55 cases an early examination combining either the transvaginal or the transabdominal route at 13–16 weeks was also carried out. The heart evaluation was considered as complete when the four chamber view, with both atria, ventricles and atrioventricular valves, as well as the origin and double crossing of the great arteries were correctly identified. Colour and pulsed Doppler examination were used to assess blood flow through the aortic, pulmonic and atrioventricular valves, in order to detect regurgitation or very high velocities suggesting valve stenosis. The systemic and pulmonary venous return was also identified, and assessed by Doppler when possible. Results Only one structural cardiac defect was detected in this population. It was a tricuspid atresia with ventricular septal defect detected at 14 weeks of gestation. Conclusion Although the number of cases is too small to draw strong conclusions, the utility of nuchal translucency as a screening method for congenital heart disease in chromosomally normal fetuses is worth to be confirmed by further investigation.

Cytogenetic studies were performed in 445 couples presenting because of repetitive abortion. The authors detected a balanced translocation in 19 (4.2%) of the couples, pericentric inversions in 8 (1.8%), and polymorphisms in 52 (11.4%). The results were compared with those obtained in a series of 600 consecutive normal liveborns. Significantly higher frequencies for translocations and polymorphisms were present in couples with repetitive abortion. No sex predominance in translocation carriers was observed, and reciprocal translocations were more common (16 of 19) than the robertsonian type (3 of 19). Contrary to other reports, all of the translocations and inversions were detected among couples without previous abnormal offspring. Cytogenetic prenatal testing in 17 pregnancies from a carrier parent showed that none of the fetuses had the unbalanced karyotype, 13 carried the balanced rearrangement, and 4 had a normal karyotype. Although a risk profile can be obtained for these couples, prenatal testing must be offered to avoid anxiety and unjustified pregnancy interruptions.