Dariusz Borowski

The evolution of fetal presentation during pregnancy: a retrospective, descriptive cross-sectional study

We investigated changes in the frequencies of four primary types of singleton fetal lie/presentation for each gestational week from 18 to 39 weeks in a retrospective, cross‐sectional study which analyzed ultrasound examination records of fetal positions, in the outpatient prenatal diagnosis clinics in two cities in Poland. We calculated the prevalence and 95% confidence intervals for each type of lie/presentation. We then identified the gestational age after which no statistically significant changes in terms of prevalence were observed, by comparing the results at each week with the prevalence of cephalic presentation at 39+0 weeks, used as reference. A total of 18 019 ultrasound examinations were used. From 22 to 36 weeks of gestation, the prevalence of cephalic presentation increased from 47% (45–50%) to 94% (91–96%), before and after which times plateaus were noted. Spontaneous change from breech to cephalic is unlikely to occur after 36 weeks of gestation.

Screening for trisomy 21 based on maternal age, nuchal translucency measurement, first trimester biochemistry and quantitative and qualitative assessment of the flow in the DV — the assessment of efficacy

OBJECTIVES The aim of the study was to compare effects of addition of two methods of ductus venosus (DV) flow assessment: qualitative - the assessment of shape of the A-wave (positive or negative), and quantitative - based on the pulsatility index for veins (DVPI) to the basic screening for trisomy 21 at 11 to 13 + 6 weeks of pregnancy. MATERIAL AND METHODS The ultrasound examination was performed in 8230 fetuses in singleton pregnancies at 11- -13 + 6 wks, as a part of a routine screening for chromosomal defects. In DV A-wave was assessed and DVPI was calculated. After the scan blood sample was taken for first trimester biochemistry (BC). Risk for chromosomal defects was calculated and high-risk patients were offered an invasive test for karyotyping. RESULTS Basic screening with following combination of markers: MA, NT and BC provided lowest detection rate (DR) 87.50% for FPR = 6.94%. After adding qualitative DV A-wave assessment DR increased to 88.75% for FPR = 5.65%. The best DR = 93.75% for FPR = 5.55% was achieved when quantitative DVPI was added. The application of the Receiver Operating Curves curve confirmed validity of the addition of DV flow assessment to the screening model. The highest diagnostic power of the test was achieved when DVPI was added, with the ROC AUC of 0.974. CONCLUSIONS The assessment of DV flow performed at 11-13 + 6 weeks increases DR for trisomy 21 and reduces FPR. The screening model based on the quantitative DV flow analysis (DVPI) gives better results compared to the qualitative flow assessment.

Frontomaxillary facial angle measurement in screening for trisomy 18 at 11 + 0 to 13 + 6 weeks of pregnancy: a double-centre study.

Objective. The aim of this study was to evaluate the effectiveness of prenatal screening for trisomy 18 with the use of the frontomaxillary facial angle (FMF angle) measurement. Material and Methods. The study involved 1751 singleton pregnancies at 11–13 + 6 weeks, examined between 2007 and 2011. Serum PAPP-A and free beta-hCG levels were assessed, and crown-rump length, nuchal translucency, and FMF angle were measured in all patients. 1350 fetuses with known follow-up were included in the final analysis. Results. Highly significant (P < 0.01) negative correlation between the CRL and the FMF angle was found. There were 30 fetuses with trisomy 18. FMF angle was highly significantly larger (P < 0.0001) in fetuses with trisomy 18 as compared to chromosomally normal fetuses. Two models of first trimester screening were compared: Model 1 based on maternal age, NT, and first trimester biochemistry test (DR 80–85% and FPR 0.3–0.6%), and Model 2 = Model 1 + FMF angle measurement (DR 87.3–93.3% and FPR 0.8–1.3%). Conclusions. The use of FMF angle measurement increases the effectiveness of the screening for trisomy 18. Introduction of the FMF angle as an independent marker for fetal trisomy 18 risk requires further prospective research in large populations.

Accuracy of sonographic estimation of fetal head circumference

We read with great interest the paper, ‘Sonographic estimation of fetal head circumference: how accurate are we?’ by Melamed et al.1 published in the January issue of Ultrasound in Obstetrics & Gynecology. The authors compared ultrasound measurements of fetal head circumference (HC) performed shortly (within 3 days) before delivery with postnatal HC taken with a measuring tape. The aim of the paper was to assess the accuracy of sonographic estimation of fetal HC. They found that postnatal HC measurement is more accurate than is prenatal sonographic measurement. This resembles comparing apples and pears. Fetal HC was measured by placing the ellipse around the perimeter of the skull2,3. Firstly, this is measurement of bony structures only and secondly, through the use of appropriate magnification, this allows measurement with an accuracy of tenths of a millimeter. Postnatal HC is measured in a different manner, as the outer circumference of the head, including skin and subcutaneous tissue. A measuring tape is less accurate and does not allow measurement in decimals of a millimeter. Yet, the authors say that the mean postnatal HC value was 342.5 mm. The values of neonatal head measurements were obtained from the hospital’s perinatal database. Does the tape used by pediatricians in their hospital allow measurement in decimals of millimeters? Did they really record neonatal HC with such accuracy? Usually, such accuracy of neonatal head measurement is not needed in clinical settings. It is also difficult to assess the presence or degree of any stretching of the flexible measuring tape. They provide no information as to whether the same type of tape was used in all cases or what brand it was. It is also difficult to exactly prove that the level of measurement is the same for the fetal and the neonatal head, as the mark points are different. Furthermore, the tape’s width is approximately 15 mm, which can make more difficult the positioning of the tape along the required plane. The authors found that the preand postnatal measurement discrepancy increased with increasing gestational age. This is understandable, as the amount of subcutaneous tissue increases with gestational age and is greater in large babies. HC > 90th centile and male gender were associated with larger error. It is unfortunate that the authors did not analyze the influence of the birth-weight centile. Most probably the error was greater in larger babies because they have more subcutaneous tissue. Interestingly, the error depended on the mode of delivery, being smallest for Cesarean section, moderate for uncomplicated vaginal delivery and largest for vacuum extraction. The neonatal head measurements were taken 2–6 h after delivery. These findings imply that neonatal HC is influenced by subcutaneous tissue edema that depends on the mode of delivery. Thus, to assess true HC, measurements should be taken after a longer period of time, for example 24 h after delivery. It might be interesting to perform a prospective study with a standardized method of postnatal HC measurement and to consider measuring prenatal HC with soft tissue included. Birth weight expressed in centiles should be examined as an independent factor affecting the accuracy of HC estimation.

OC048: Comparison of conventional and three‐dimensional sonohysterography in the assessment of submucous uterine myomas before their hysteroscopic resection

Objectives: To evaluate to what extent removal of focal intracavity lesions results in cessation of abnormal uterine bleeding. Methods: Prospective observational study. From a cohort of 402 women presenting with abnormal uterine bleeding, 124 patients were referred for operative hysteroscopy after diagnosis of a focal intracavity lesion seen at hydrosonography and/or hysteroscopy. A telephone survey was conducted two years later asking patients about their bleeding pattern. The symptoms before and after surgery and the results of histology were compared. Results: There were 112 patients, with the mean age of treatment at 52.2 years, with 47% being premenopausal. In 14 patients (12.5%) the endometrial thickness at ultrasound was below 5 mm. The histology of the resected tissue were endometrial polyps in 60.7%, submucous myomas in 21.4%, with focal endometrial hyperplasia in 4.5%. For those women with endometrial polyps and intracavity myomas confirmed on histology, 97% and 83%, respectively reported an improvement in bleeding pattern. For those with polyps and myomas there was a definitive cure rate of 76% and 79%, and a transient improvement in 21% and 4%, respectively. Conclusions: The vast majority of women complaining of abnormal uterine bleeding and with a focal intracavity lesion will benefit from removal under hysteroscopic guidance.

Influence of first trimester biochemistry methodology on detection rate in screening for trisomy 21

OBJECTIVES The purpose of the study was to compare detection rates (DR) of FMF-certified and non-certified biochemical tests (BC) in trisomy 21 screening at 11-13 + 6 weeks. MATERIAL AND METHODS In 2267 singleton pregnancies FMF-certified doctors measured crown to rump length (CRL) and nuchal translucency (NT). Serum samples were tested for free β-hCG and the PAPP-A using 2 analysers (Delfia - Perkin Elmer and Immulite 2000 - DPC), the results were expressed in MoM values and used for computer calculation of the risk for trisomy 21. The cut-off value for the high trisomy 21 risk was 1:300. RESULTS Comparison of free β-hCG MoMs by DPC and Delfia demonstrated statistically significant differences in normal, and trisomy 21 fetuses respectively. Similarly, statistically significant differences were noted for PAPP-A MoMs. The above differences in MoMs resulted in altered sensitivity in screening for aneuploidy. The application of the FMF-certified method ensures a markedly higher DR = 74%, compared to non-certified tests (64%), both at 5% FPR. The ROC analysis was performed in order to assess the efficacy of both tests. Results of trisomy 21 BC + NT risk scales using the Delfia and DPC methods are highly significant (p < 0.0001), which means that their discrimination ability is > 90%. The difference between results obtained using the Delfia and DPC methods is AUC = 0.0150 and is statistically significant (Z = 2.4728, p = 0.0134). CONCLUSIONS The use of FMF-certified first trimester biochemistry analysers improves DR for trisomy 21. The use of non-certified analysers causes reduction of DR and an increase of invasive procedure rate.

Cell-free fetal DNA testing in prenatal diagnosis: Recommendations of the Polish Gynecological Society and the Polish Human Genetics Society

This paper contains a joint position of the Polish Gynecological Society and Polish Human Genetics Society on the cell-free fetal DNA testing in prenatal diagnosis. We present situations where the cell-free fetal DNA testing should be applied and cases in which performing of the test is not useful. We indicate what diagnostic steps should be performed before the test and how the test results should be interpreted and followed.

Nasal bone in screening for T21 at 11–13 + 6 weeks of gestation — a multicenter study

OBJECTIVES Trisomy 21 is one of the most common chromosomal defects diagnosed prenatally. Screening for Down syndrome is based on maternal age, measurement of crown-rump length, nuchal translucency and fetal heart rate, together with free β-hCG and PAPP-A at 11 to 13 + 6 weeks. Introduction of additional ultrasound marker of trisomy 21 (evaluation of the nasal bone) may result in increased DR and decreased invasive diagnostic testing rates (FPR). MATERIAL AND METHODS Ultrasound scan with NB evaluation was performed in 5814 fetuses during routine screening for chromosomal defects at 11 to 13 + 6 weeks of gestation. DR and FPR coefficients were calculated for 4 levels of risk as cut-off points for screening model 1, based on MA, NT, and first trimester biochemistry, as well as for screening model 2, based on MA, NT, first trimester biochemistry and NB. RESULTS There were 5708 normal cases, 71 cases of trisomy 21 and 35 cases of other chromosomal defects. NB was absent in 46 (64.8%) cases and present in 25 (35.3%) cases of trisomy 21, comparing to present NB in 5463 (95.7%) and absent in 245 (4.3%) of normal cases. CONCLUSIONS First-semester screening with additional NB assessment significantly increases the detection rate for trisomy 21 and decreases the rate of false-positive results. Adding NB evaluation at the risk level of 1:50 causes only a small increase in detection rate. Invasive procedures should be performed in that group regardless NB assessment.

Analysis of the origin of birth defects in pregnant women from the Kujawy-Pomerania Region.

OBJECTIVES The aim of the study was to analyze the origin of birth defects in pregnant women from the Kujawy-Pomerania Region, and to identify factors affecting the formation of developmental disorders in the Province. MATERIAL AND METHODS The correlation between maternal age and fetal defects was investigated. We also attempted to determine whether environmental or family factors play a role in the formation of fetal abnormalities. RESULTS The analysis confirmed a correlation between the incidence of chromosomal aberrations and maternal age. CONCLUSIONS Higher rates of neural tube defects were observed in fetuses born to mothers who did not take folic acid. The influence of other factors on developmental anomalies was not confirmed.

Postpartum levator ani muscle injuries. Diagnosis and treatment

Levator ani muscle (LAM) injuries are much more frequent than trauma to sphincter ani muscles, but so far they have been omitted in obstetric handbooks. Levator ani avulsion is observed only after vaginal delivery. Forceps delivery second stage of labor ≥ 110 min., fetal head circumference ≥ 35 cm, episiotomy and coincidence of anal sphincter trauma are risk factors for levator ani avulsion. The most vital issue in that type of trauma is pelvic organ prolapse and 2-4-fold higher risk of recurrence after prolapse surgery. The current level of evidence does not allow to conclusively determine the of role of levator avulsion in urinary incontinence. Levator injuries are occult, what constitutes the main diagnostic problem. Until recently magnetic resonance imaging has been the only diagnostic method until the development of 3-dimensional ultrasound. Nowadays, 3-D ultrasound is an essential technique in static and functional diagnosis of the levator ani. There are no effective methods of levator trauma prevention. Except the risk factors reduction, there are some pilot data about positive role of antepartal perineal muscle training. Physiotherapy plays the main role in reducing the effects of levator trauma. Mesh techniques are the most effective operative methods in coincident pelvic organ prolapse with levator avulsion, but there is still a 2-fold higher risk of recurrence.