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Biomedical subjects

R Maymon

Publications and source records attributed to R Maymon.

At least 19 recordsLinked to original sources
PubMed2006

A model for second-trimester Down syndrome sonographic screening based on facial landmarks and digit length measurement.

OBJECTIVE: To determine whether Down syndrome can be detected by combining measurements of fetal nasal bone (NB) length, prenasal thickness (PT) and digits 2 and 3 of the hand. METHODS: Two hundred and fifty-four normal and 25 Down-syndrome fetuses were scanned between 15 and 33 weeks' gestation. Physicians performing the scans were not blinded to the fetal karyotype. Both PT and NB were measured in a mid-sagittal plane. For PT measurement calipers were placed between the frontonasal angle and the outer skin edge. Digits 2 and 3 of one hand were also measured. The results (except for PT/NB ratio) were expressed in multiples of the normal gestation-specific median (MoM). A logistic regression model was used to estimate the odds of the fetus having Down syndrome given different combinations of NB, PT, PT/NB ratio, and digits 2 and 3 measurements. The odds were used to calculate the risk of Down syndrome for each pregnant woman from her age and measurements. RESULTS: The median PT MoM for unaffected fetuses and Down-syndrome fetuses was 1.12 vs. 1.35 (P < 0.0001). The median NB MoM for unaffected and Down-syndrome fetuses was 1.03 vs. 0.81 (P < 0.001) and the PT/NB ratio MoM for unaffected and Down-syndrome fetuses was 0.63 vs. 0.96 (P < 0.001). The respective median MoM values for digits 2 and 3 of the Down-syndrome fetuses were significantly smaller (0.81 vs. 0.93 and 0.89 vs. 0.95, respectively, P = 0.003). Only the PT/NB ratio and digit 2 were finally included in the logistic regression equation. Using a 1 in 200 risk cut-off, the observed sensitivity and false-positive rate were 76% and 6.7%, respectively. CONCLUSION: Combining the PT/NB ratio and digit 2 measurements yielded a promising screening detection rate. Confirmation of our findings in a prospective study is needed before the method can be used clinically.

Adult↗
PubMed2004

Ectopic pregnancies in a Caesarean scar: review of the medical approach to an iatrogenic complication.

Implantation of a pregnancy within a Caesarean fibrous tissue scar is considered to be the rarest form of ectopic pregnancy and a life-threatening condition. We conducted a computer search of the English literature of all studies since 2002 to gather updated data on the outcome of such pregnancies. Sixty-six new cases were reported since 2002, possibly reflecting the increasing number of Caesareans currently being performed as well as the more widespread use of the transvaginal scan allowing their earlier detection. Analysis of these women's obstetric history revealed that those at risk for pregnancy in a Caesarean scar appear to have a history of dilatation and curettage, placental pathology, ectopic pregnancy, and IVF. Twenty-one out of 39 for which this information was available (54%) had undergone multiple (> or =2) Caesareans and 13 had previous dilatation and curettage, which might also be an associated factor. We review and discuss the features of contemporary work-ups, including a high index of awareness, a detailed history and a skillful ultrasound examination for an early and accurate diagnosis. Healthcare professionals should be familiar with the possibility of untoward sequelae and how a modern work-up can help in guiding conservative options, thus reducing morbidity and preserving fertility.

Cesarean Section↗
PubMed2004

Comparison of pregnancy outcome of euploid fetuses with increased nuchal translucency (NT) expressed in NT MoM or delta-NT.

OBJECTIVE: To evaluate the outcome of euploid fetuses with increased nuchal translucency thickness (NT) expressed in multiples of the median (MoM) or delta-NT. METHODS: Included in the study were euploid fetuses with increased NT >or= 95(th) centile, for which information about pregnancy outcome was available. The following parameters were defined as an adverse outcome: miscarriage, structural anomalies justifying termination of pregnancy, and structural anomalies, genetic syndromes and neurodevelopmental problems diagnosed postnatally. Fetal outcome according to NT MoM and delta-NT was calculated using different cut-off values. Calculations of the odds ratio for adverse outcome were performed using either NT MoM or delta-NT as a predictor in logistic regression models. RESULTS: The study comprised 168 euploid fetuses. Of these, 38 (23%) had an adverse outcome: 11 (6%) had miscarriages, 14 (8%) were terminated because of fetal abnormalities detected on the prenatal scan and 13 (7%) were found postnatally to have abnormalities. The incidence of cases exhibiting an adverse outcome was 5.3%, 19.2% and 58.5% for NT values of 1.6-1.9, 2.0-3.0 and >3.0 MoM, respectively (P < 0.0001, chi(2) test), and 3.9%, 16.7% and 62.8% for delta-NT values of 1.0-1.4, 1.5-2.5 and >2.5 mm, respectively (P < 0.0001, chi(2) test). Using cut-offs of 2.0 MoM and delta-NT of 1.5 mm, the odds ratios for adverse outcome were 10.2 (95% CI, 3.4-30.4) and 15.4 (95% CI, 4.2-43.6), respectively. CONCLUSION: Both the NT MoM and delta-NT approaches may be used to determine cases which require additional antenatal investigation as well as fetal karyotyping. For this purpose we suggest using a cut-off of either 2.0 MoM or a delta-NT of 1.5 mm.

Abortion, Spontaneous↗
PubMed2004

All five digits of the hands of fetuses with Down syndrome are short.

OBJECTIVE: To compare mid-gestation sonographic measurements of all five digits of the hands of fetuses with Down syndrome with those of normal controls. METHODS: Twenty-nine fetuses between 17 and 26 weeks' gestation which had been confirmed by karyotyping to have Down syndrome were included in this prospective study. Each fetus was scanned once and the digits of only one hand were measured. Measurements were compared with those of 302 previously reported normal controls matched for gestational age. All measurements were expressed in multiples of the gestation-specific normal median (MoM) for each digit. RESULTS: Compared to 1 MoM for the length of Digits 1 to 5 from the normal population, the respective values in the Down syndrome digits were: 0.94, 0.85, 0.92, 0.88 and 0.85 MoM, representing values significantly lower than normal (P < 0.05; t-test). CONCLUSIONS: All five digits of the hands of fetuses with Down syndrome are shorter than are those of euploid fetuses. Integration of fetal digit measurement into the antenatal assessment of selected high-risk cases may be of value although confirmation of our findings should be obtained before this measurement is incorporated into Down syndrome screening in the general population.

Cross-Sectional Studies↗
PubMed2004

Ectopic pregnancies in Caesarean section scars: the 8 year experience of one medical centre.

BACKGROUND: Our aim was to supplement the mostly individual case reports on the rarely occurring and life-threatening condition of ectopic pregnancy developing in a Caesarean section scar. METHODS AND RESULTS: Eight of all the patients treated in our department between 1995 and 2002 had been diagnosed for ectopic pregnancy that developed in a Caesarean section scar. They comprised this case series group. Four of them underwent methotrexate treatment; one had expectant management, one transcervical aspiration of the gestational sac and two by open surgery. All the non-surgically treated women had an uneventful outcome. One underwent a term Caesarean hysterectomy and the other first trimester hysterotomy and excision of the pregnancy located in the scarred uterus. Analysis of all these women's obstetric history revealed that five of them (63%) had been previously operated because of breech presentation, one had a cervical pregnancy and one had placenta previa. Four of them (50%) had multiple (> or = 2) Caesarean sections. CONCLUSIONS: The women at risk for pregnancy in a Caesarean section scar appear to be those with a history of placental pathology, ectopic pregnancy, multiple Caesarean sections and Caesarean breech delivery. Heightened awareness of this possibility and early diagnosis by means of transvaginal sonography can improve outcome and minimize the need for emergency extended surgery.

Adult↗
PubMed2004

A model for disclosing the first trimester part of an integrated Down's syndrome screening test.

This study was designed to evaluate a model for disclosing the first part of an integrated Down's syndrome (DS) test without affecting its low false-positive results. Parturient women underwent sequential DS-screening tests. They included nuchal translucency (NT) and biochemistry assessments in the first trimester and a mid-gestation triple test. Although screening tests results were given following each test, fetal karyotyping was performed by means of mid-gestation amniocentesis. The proposed approach for disclosure refers to either (a) cases picked by a statistical model (this is based on a logistic regression analysis and a receiver-operated curve that was set to a specificity of 100% of first-trimester markers pointing on at very high probability of aneuploidy) or (b) cases demonstrating a first trimester DS risk > or = 1 : 40 (a threshold level at which the integrated test results will always be screen positive). The results of the sequential screening and pregnancy outcome were available for 372 normal and 22 chromosomal affected singletons. NT and pregnancy-associated placental protein A emerged as the most sensitive marker combination. The statistical model picked up seven of 22 abnormal cases (32%), and a first-trimester DS risk > or = 1 : 40 was detected in 11 (50%) (there was an overlap of five cases). The combined strategy yields a 60% detection rate (13/22) of the affected pregnancies and without any increase in the false-positive results. This can be achieved immediately following the first part of the integrated DS test. This model obviates the ethical, clinical, and financial implications of further assessing about 60% of the affected pregnancies.

Amniocentesis↗
PubMed2004

The clinical evaluation and pregnancy outcome of euploid fetuses with increased nuchal translucency.

This review aims to address the systematic work-up and counseling throughout pregnancies with increased nuchal translucency (NT) in euploid fetuses. Original articles from peer-reviewed English-language journals between 1997 and 2003 were studied. They all included descriptions of pregnancy outcomes of euploid fetuses with increased NT. Eleven studies reporting on the pregnancy outcome of 2128 euploid fetuses with increased NT (> or = 3 mm or > or = 95 centile) were retrieved by our literature search. A statistical analysis was conducted for assessing the consistency of effects across studies. The chi2 tests were applied to verify the homogeneity of the results from different series. A significant difference was found between the studies even when the results were analyzed separately according to various NT cutoff levels (i.e. > or = 3 mm, > or = 3.5-4 mm, and > or = 95 centile). These discrepancies suggest that those studies are significantly different and therefore, cannot be combined for meta-analysis. Of all the reported series, 2.2-10.6% of the fetuses have miscarried and 0.5-15.8% ended in perinatal death. There was an overall rate of 0.5-12.7% neurodevelopmental problems, and 2.1-7.6% of the malformations which were undiagnosed before birth. Importantly, 70-90% fetuses had normal outcomes. A detailed two-step anomaly scan including midgestation fetal echocardiography should be part of perinatal management of pregnancies with increased fetal NT. Data on relevant family history and persistence of nuchal edema provide additional relevant information for planning pregnancy management.

Chromosome Aberrations↗
PubMed2002

Nuchal translucency measurements in consecutive normal pregnancies. Is there a predisposition to increased levels?

OBJECTIVE: The current study aims to assess the relative risk of isolated increased nuchal translucency (NT) in consecutive normal pregnancies. METHODS: A retrospective search of the fetal medicine unit database in which NT assessment was conducted. Only singleton fetuses with an unremarkable pregnancy outcome were included in this study. The repeated NT either at a threshold of >2.5 mm or > or =95th centile of the normal range for various CRLs (2 mm at a CRL < or =44 mm to 2.85 mm at CRLs 83-84 mm) was assessed. Pearson's correlation was applied to investigate any correlation between a log(10) NT obtained in two consecutive pregnancies. The chance of an increased NT in the first pregnancy followed by similar results in the subsequent one was assessed using Fisher's exact test. RESULTS: Ninety-two pregnant women with two consecutive normal pregnancies were identified. There was a highly significant correlation between the log(10) NT values measured in the consecutive pregnancies (r = 0.38; p < 0.001). The relative risk of an isolated NT > or =2.5 mm in the first pregnancy to be followed by a similar finding in the subsequent one was 18.21 (95% confidence interval [CI]: 3.62-91.55). The relative risk of an isolated NT > or =95th centile in the first pregnancy to be followed by a similar result in the subsequent one was 21 (95% CI: 4.53-97.44). CONCLUSION: The current results indicate a significant correlation of NT values in consecutive unaffected pregnancies. There also was a predisposition for a repeated isolated increased NT in subsequent pregnancies. Additional series and more information are needed before firm conclusions can be made.

Adult↗
PubMed2002

Prenatal age-specific reference intervals for measuring all five digits of the fetal hand.

OBJECTIVE: To construct prenatal age-specific reference intervals for measurement of five digits in normal fetuses. PATIENTS AND METHODS: Prospective cross-sectional study of fetuses assessed at an antenatal ultrasound unit in a university-affiliated general hospital. The study cohort comprised 302 pregnant women attending our clinic for routine fetal biometry or anomaly scan between December 1997 and June 2000. They all fulfilled the study inclusion criteria: singleton fetuses with normal anatomy, accurate gestational age and no medical complications of pregnancy. Each fetus was scanned once only and the finger measurements of one hand were obtained. Electronic calipers were placed on the outer margin of the proximal phalanx to the outer margin of the distal phalanx level. Those measurements and the relevant gestational age were registered in a computerized database. RESULTS: The linear increase of size of each of the five fingers was plotted across the evaluated range of gestation (P < 0.001; r2 between 0.85 and 0.86 for fingers I to V). Tables showing the 5th, 50th and 95th centiles of finger lengths between 14 and 27 weeks' gestation were created based on the reference interval charts. CONCLUSIONS: Second-trimester measurement of all five digits of the fetal hand is feasible. This may assist in the evaluation of fetuses that are primarily suspected of having genetic abnormalities that might be expressed by deviation in finger length.

Cross-Sectional Studies↗
PubMed2002

Serial first- and second-trimester Down's syndrome screening tests among IVF-versus naturally-conceived singletons.

BACKGROUND: It has been reported that second-trimester serum markers may be affected by assisted reproduction, leading to a higher false-positive rate. METHODS: A total of 285 naturally and 71 IVF-conceived singletons which underwent a serial disclosure Down's syndrome screening programme were compared. The study protocol included first-trimester combined [nuchal translucency (NT), free beta-HCG and pregnancy-associated plasma protein-A (PAPP-A)] testing. The second-trimester triple serum screening included alpha-fetoprotein (AFP), intact HCG and unconjugated estriol (uE3). After excluding aneuploidies, miscarriages, anatomical anomalies and cases with incomplete follow-up, the serum samples of normal cases were assessed and correlated. RESULTS: NT measurement was not significantly changed in either group. However, the IVF group had lower PAPP-A [0.96 versus 1.05 multiples of normal median (MoM)] and higher AFP (1.13 versus 1.07 median MoM). Both groups had similar rates of first-trimester false-positive results (FPR; 7 and 9% respectively), but the IVF group had a significantly higher mid-gestation FPR rate (10 versus 5%; Pearson chi2, P = 0.029). This has contributed to amniocentesis uptake rates of 15 and 13% for the IVF and natural conception pregnancies respectively. CONCLUSIONS: The IVF group tended to have a significantly higher second-trimester FPR rate. To counterbalance this phenomenon, integrated first- and second-trimester screening tests or the use of NT alone might be a reasonable option that deserves further investigation.

Adult↗
PubMed2002

Down's syndrome screening in twin pregnancies by nuchal translucency measurement. Current concept.

During the last 2 decades various non-invasive Down syndrome (DS) screening methods were introduced in clinical practice. However, specific problems were encountered when these methods were applied for twin pregnancies. The current review aims to explore the problematic issue of antenatal DS screening in twins. The implication and the adjusted management in the attempt to achieve the best evaluation for this type of gestation is discussed. Overall more women with twin pregnancies (mainly those who conceived via assisted reproduction) are found false positive for DS. This is because the standard screening algorithms include maternal age. In addition, mid-trimester maternal serum screening is associated with a higher false positive rate; secondary to changes in the feto-placental endocrinologic metabolism in assisted conception pregnancies. Therefore, in twins mid-trimester maternal serum screening is of limited clinical value. In those pregnancies, DS screening by means of nuchal translucency measurements at 10-14 weeks is associated with a lower false positive rate than mid-trimester serum screening. In addition, this screening method enables to specifically identify those fetuses at risk of DS and other anomalies, and thus contributes to a better outcome.

Down Syndrome↗
PubMed2001

Antenatal sonographic findings of right pulmonary agenesis with ipsilateral microtia: a possible new laterality association.

Right pulmonary agenesis is a rare congenital malformation which results in secondary dextrocardia in situs solitus. Ipsilateral microtia in this context composes a laterality syndrome. The prenatal sonographic findings of this abnormality have not been previously reported. We describe the association of dextrocardia in situs solitus, intact diaphragm and right microtia. This was sonographically diagnosed at mid-gestation in an euploid fetus. Surgical evacuation of the pregnancy confirmed the external malformation. Laterality association should be assessed in a fetus with sonographic findings of pulmonary agenesis. The differential diagnosis and updated literature review is presented.

Adult↗
PubMed2001

Maternal serum human chorionic gonadotrophin levels in systemic lupus erythematosus and antiphospholipid syndrome.

Maternal serum human chorionic gonadotrophin (hCG) levels were measured during the second and the third trimesters of pregnancy in patients with either systemic lupus erythematosus (SLE) or primary antiphospholipid syndrome (APS). All results were expressed in multiples of the gestation-specific normal medians (MoM). The median MoM level in 17 samples from SLE patients was 1.48 compared with 0.79 MoM in 99 controls of similar gestation (p < 0.002, Wilcoxon Rank sum test). In contrast the median MoM level in 19 samples from primary APS patients was only 1.14. These preliminary findings should be further studied to evaluate the implications for Down syndrome screening, detection of SLE cases during pregnancy and the prediction of adverse outcome in SLE gestations.

Antiphospholipid Syndrome↗
PubMed2001

Does a 'notched' nuchal translucency indicate Down syndrome fetuses or other adverse pregnancy outcome?

The aim of the present study was to assess the sonographic contour of the increased nuchal translucency (NT) and to correlate this with pregnancy outcome. Fifty sonographic images of fetuses with increased NT [> 95th centile thickness of the normal range for crown-rump length (CRL) between 38 and 84 mm] were retrospectively assessed. In all the cases a complete pregnancy and even infancy follow-up (< 36 months) was available. The NT appearances were subdivided into two forms: a 'notched' or 'uniform' appearance. The images were correlated with karyotype results [trisomy 21 (DS) vs euploid cases] and pregnancy outcome. Complicated outcomes were classified as being either DS fetuses, miscarriage or termination of pregnancy because of structural anomaly. Thus 30/35 (86%) of the euploid fetuses had a 'uniformly' increased NT, whereas 8/13 DS cases (62%) had a 'notched' appearance (Fisher's exact test, p = 0.004). Additionally, 27/29 fetuses (93%) which had an uneventful pregnancy outcome had a 'uniform' increased NT, whereas 12/26 (57%) of the fetuses which had adverse pregnancy outcome had a 'notched' appearance of their NT (Fisher's exact test, p < 0.001). Although it was not possible to correlate the sonographic data with post-evacuation microdissection findings, it is possible that a uniformly shaped, increased NT may be more representative of a developmental delay in a normal fetus. Conversely, a 'notched' nuchal surface may represent abnormal lymphatic or cardiovascular development more commonly seen in DS fetuses.

Adult↗