Ultrasound features in trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) in a consecutive series of 47 cases.

OBJECTIVE: To determine and list the variety of the predominant appeal signs leading to referral and their accompanying features found during specialized ultrasound evaluation in foetuses with trisomy 13 and trisomy 18. MATERIALS AND METHODS: In a period of thirty years, 1110 cases of foetal malformations were detected during specialized echographic evaluation. 47 Of these cases were foetuses with trisomy 13 or trisomy 18. We evaluated the predominant signs leading to referral, the difference and overlap in presenting signs between both syndromes and when the data were available, we also compared the echographic signs with the foetal pathology. RESULTS: In foetuses with trisomy 13 the most common malformations were craniofacial defects, cerebral malformations and genitourinary tract anomalies. The most common malformations associated with trisomy 18 were limb abnormalities and intrauterine growth restriction. Most malformations were predominant in trisomy 18, except for genitourinary tract anomalies. In most cases the sonographic signs correlated with the pathology findings. CONCLUSION: Trisomy 13 as well as trisomy 18 are characterized by a number of various malformations in the foetus. Most of the ultrasound features were predominant in foetuses with trisomy 18. Mostly the foetal pathology correlated with the sonographic evaluation.

Delayed structural development in an acardiac fetus: an echographic observation.

INTRODUCTION: Twin reversed arterial perfusion (TRAP) is a rare condition in monozygotic multiple gestations, caused by the formation of large arterio-arterial anastomoses. Only few serial ultrasound observations are reported, showing the delayed development in the recipient twin. CASE: A monochorionic monoamniotic twin pregnancy with discordant growth was diagnosed at 11 weeks and 4 days in a 28-year-old primigravida. The smaller twin, who first appeared as an amorphic mass, showed growth and developed a clearly recognizable spine and lower limbs in further ultrasound examinations. CONCLUSION: This case illustrates that developmental arrest in acardiac fetuses does not affect the total organism at one time, but that some embryonic fields keep on developing into macroscopically recognizable structures.

Prune belly anomaly on prenatal ultrasound as a presenting feature of ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC).

We report on a fetus with prune belly anomaly presenting at 16 weeks gestation. Clinical evaluation after birth revealed other malformations reminiscent of the EEC syndrome. This diagnosis was also suspected in the mother and finally confirmed in both relatives by identification of a heterozygous mutation (p.R204W) in the p63 gene. With this paper we confirm the previously reported occurrence of prune belly anomaly in the EEC syndrome, however here in this family proven by genetic analysis.

Suboptimal care and perinatal mortality in ten European regions: methodology and evaluation of an international audit.

BACKGROUND: A European concerted action (the EuroNatal study) investigated differences in perinatal mortality between countries of Europe. This report describes the methods used in the EuroNatal international audit and discusses the validity of the results. METHODS: Perinatal deaths between 1993 and 1998 in regions of ten European countries were identified. The categories of death chosen for the study were singleton fetal deaths at 28 or more weeks of gestational age, all intrapartum deaths at 28 or more weeks of gestational age and neonatal deaths at 34 or more weeks of gestational age. Deaths with major congenital anomalies were excluded. An international audit panel used explicit criteria to review all cases, which were blinded for region. Subjective interpretation was used in cases of events or interventions where explicit criteria did not exist. Suboptimal factors were identified in the antenatal, intrapartum and neonatal periods, and classified as 'maternal/social', due to 'infrastructure/service organization', or due to 'professional care delivery'. The contribution of each suboptimal factor to the fatal outcome was listed and consensus was reached on a final grade using a procedure that included correspondence and plenary meetings. RESULTS: In all regions combined, 90% of all known or estimated cases in the selected categories were included in the audit. In total, 1619 cases of perinatal death were audited. Consensus was reached in 1543 (95%) cases. In 75% of all cases, the grade was based on explicit criteria. In the remaining cases, consensus was reached within subpanels without reference to predefined criteria. There was reasonable to good agreement between and within subpanels, and within panel members. CONCLUSIONS: The international audit procedure proved feasible and led to consistent results. The results that relate to suboptimal care will need to be studied in depth in order to reach conclusions about their implications for assessing the quality of perinatal care in the individual regions.

The GyneFix implant systems for interval, postabortal and postpartum contraception: a significant advance in long-term reversible contraception. International Study Group on Intrauterine Drug Delivery.

Intrauterine contraception has a number of important advantages over other forms of contraception and remains, therefore, an important method of birth control. However, side-effects and other drawbacks have reduced its overall acceptance. Also misconceptions and lack of updated scientific knowledge among the potential users and providers are major obstacles to the widespread use of intrauterine contraception. Ideally, an intrauterine device (IUD) should prevent pregnancy effectively, be well tolerated, not become displaced or expelled over time, cause a minimum of side-effects, be long-lasting, have a strictly local effect, and be easy to insert and remove. A group at the University of Ghent, Belgium, the International Study Group on Intrauterine Drug Delivery, has developed, since 1985, a totally new concept in order to improve current intrauterine contraceptive efficacy and enhance tolerance, by creating a harmonious relationship between the uterine cavity and the contraceptive 'foreign body'. The new concept (GyneFix) consists of a non-biodegradable suture thread made of surgical 00 monofilament polypropylene on which six copper tubes are threaded, providing a total surface area of 330 mm2. The upper and lower tubes are crimped onto the thread to keep the tubes in place. The upper extremity of the thread is provided with a knot which serves as an anchor. The knot is implanted in the myometrium of the uterine fundus with a specially designed insertion instrument, thereby permanently securing the device in the uterine cavity. Since the initial clinical investigations, over 10,000 woman years of experience and up to 10 years' follow-up in international multicenter, non-comparative and comparative clinical trials have been collected. The clinical material also included a large number of nulligravid and nulliparous women. Due to the design characteristics of the GyneFix and its anchoring in the uterine fundus, an optimal tolerance and almost complete absence of expulsion were obtained. The constant release of copper ions in the upper part of the uterine cavity results in the high effectiveness of the anchored device. The effectiveness is higher than in the high-load conventional copper IUDs which have a risk of becoming displaced, partially or totally expelled in 10% or more (nulliparous women), resulting in a significant number of accidental pregnancies. The absence of frame and, as a consequence, its flexibility, explain the low incidence of side-effects and the very low incidence of complications, such as pelvic inflammatory disease and ectopic pregnancies. This new concept could be a major step forward in the acceptance of intrauterine contraception worldwide and increase its popularity. This article reviews the experience with the new concept for interval, postabortal and postpartum contraception.

End-result of routine ultrasound screening for congenital anomalies: the Belgian Multicentric Study 1984-92.

Five ultrasound laboratories from Obstetrics and Gynecology departments of Belgian university hospitals or affiliated institutions conducted a prospective study from 1984 to 1992 in which the results of prenatal ultrasound examinations were compared to examination reports of the neonates. The results of the period 1984-89 (PI) have been published previously, and those of the period 1990-92 (PII) are presented here. Some very minor congenital anomalies, as listed and defined in the EUROCAT Register, were excluded. Of 26,147 pregnant women at normal risk for congenital anomalies, 25,046 had at least one ultrasound scan (96%). A total of 616 fetuses were structurally abnormal (prevalence 2.42%), and 685 abnormalities were recorded. The sensitivity of the ultrasound test was 40.4% in PI and 51.1% in PII for abnormal fetuses (p < 0.05), and 45% (PI) and 64% (PII) for abnormalities (p < 0.01). The specificity was 99.9% and the positive and negative predictive values were 94.2% and 98.6%, respectively; these values did not differ significantly between the two periods. The sensitivity for the detection of anomalies before 23 weeks increased from 21% in PI to 41% in PII, indicating an improvement in the early detection of fetal abnormalities.

Pre-eclampsia and trisomy 13.

A 41 year old multiparous woman with an uncomplicated obstetric history was referred because of pre-eclampsia. As ultrasonic examination revealed severe IUGR and multiple congenital anomalies, trisomy 13 was suspected and confirmed by amniocentesis. This chromosomal anomaly should be suspected in cases where pre-eclampsia is associated with abnormal fetal morphology.

Aminoterminal propeptide of type III procollagen in cord blood and amniotic fluid of high-risk pregnancies: a biochemical approach to the dynamic assessment of deviant fetal growth.

N-terminal propeptide of type III procollagen (PIIINP) concentration was measured in cord serum, amniotic fluid, and maternal serum from high-risk pregnancies. The fetal PIIINP variability was shown to be independent of the maternal serum PIIINP values. Although a highly significant negative correlation was found between the fetal propeptide level and gestational age in both appropriate-for-gestational-age neonates (n = 504) and small-for-gestational-age infants (n = 98), the PIIINP concentration in cord serum or amniotic fluid of small-for-gestational-age infants was significantly lower compared with that of appropriate-for-gestational-age infants matched for postconceptional age. PIIINP assay may thus serve as a dynamic biochemical indicator of deviant fetal growth. The PIIINP results were also related to the severity or duration of intrauterine growth retardation, as indicated by significantly lower propeptide cord serum values in nonmalformed small-for-gestational-age infants with small head circumference, known as an index for the chronicity of fetal nutritional deprivation. Preeclampsia, maternal diabetes or smoking, and congenital anomalies appeared not to be associated with any alteration of fetal propeptide concentration, provided they did not cause fetal growth deceleration. The finding of extremely high cord serum PIIINP values in six newborn infants with the Potter malformation sequence led to the speculation that large amounts of propeptides or their fragments usually are excreted by the fetal kidneys into the amniotic fluid. We suggest that determination of the PIIINP level in amniotic fluid or cord serum, obtained by amniocentesis and percutaneous umbilical sampling, may be a helpful adjunctive biochemical parameter in future research protocols assessing fetuses at risk for intrauterine growth retardation.

The FlexiGard 330 ICC, an ultrasound evaluation.

The FlexiGard 330 intrauterine copper contraceptive (ICC) was studied by ultrasound in 405 patients immediately following insertion and at each follow-up visit, for up to 5 years. The present study confirms the validity of the anchoring concept for the suspension of bioactive substances in the uterine cavity. The major conclusion from the study is that the anchor is non-migrating even when observed over a long period of time. Ultrasound examination is the method of choice to evaluate proper insertion technique as well as proper positioning of the device at follow-up.

PIP: Obstetrician/gynecologists in Brussels and Gent, Belgium, inserted the FlexiGard 330 copper releasing IUD in 514 women and followed 405 of them to determine the ability of ultrasound to evaluate the anchoring concept of this frameless and flexible IUD. The ultrasonic equipment consisted of a Pie Data Medical 400 scanner with a 3.5 MHz focused linear array transducer. They inserted the IUD's small anchoring knot into the fundus at a depth of 1 cm. They measured the distance between the serosal surface of the uterus and the upper border of the first copper sleeve (S-S distance). The expulsion rate was just .78%. Improper insertion techniques, unintentional yanking of the tail, or genital touching during sexual foreplay accounted for the 4 expulsions. Ultrasound located the IUD in all the patients who still retained the IUD. The mean S-S distance at insertion was 12.6 mm (10 mm in normal uteri and 32 mm in uteri with muscular tissue tumor) compared to 12.7 mm at last follow-up (10 mm in normal uteri and 28 mm in uteri with muscular tissue tumors). The .1 mm difference was not statistically significant. Therefore the IUDs did not migrate (some cases had the IUD for 5 years). The IUDs did not penetrate the uteri. This study showed that ultrasound is effective in determining whether the FlexiGard 330 IUD was properly inserted and whether it remains in the proper position later. The physicians suggested that vaginal ultrasound examination or use of a sector transducer rather than a linear ultrasound transducer are preferable in cases of retroverted uteri.

[Meconium peritonitis: diagnosis, etiology and treatment]. / Meconiumperitonitis: diagnose, etiologie en behandeling.

Fetal intestinal perforation causes a sterile inflammatory reaction of the peritoneum called meconium peritonitis. Twelve patients studied in the perinatal period serve to describe the classical fetal and neonatal signs and symptoms, the iconographical findings, treatment and prognosis. All but one infant, with a meconium pseudocyst, presented with the fibro-adhesive variety. Two were caused by cystic fibrosis, two by organic obstruction, one by fetal appendicitis and another two by ischemic necrosis of part of the ileum. In one of the latter two, the probable mechanism was feto-fetal embolisation following the in utero death of a co-twin. One idiopathic perforation, diagnosed in a preterm infant, healed spontaneously. The neonatal mortality rate was 18%. Primary enteric anastomosis was feasible in 3, Bishop-Koop anastomosis in 2 and an intestinal stoma in two others. Apart from the two survivors with cystic fibrosis, seven have no late gastro-intestinal sequelae.

Sensitivity and specificity of routine antenatal screening for congenital anomalies by ultrasound: the Belgian Multicentric Study.

United States and European consensus views differ on the place of routine ultrasound scans during pregnancy and the validity of such scans as screening tests for fetal malformations in the general population is still under debate. Four ultrasound laboratories from Obstetric and Gynecology departments of Belgian University hospitals and affiliated hospitals have conducted a prospective study from 1984 to 1989 to compare the anomalies discovered in ultrasonic screening of the fetus with the anomalies of the neonates. Of 16,370 pregnant women at normal risk for congenital anomalies attending the antenatal clinics of these hospitals, 16,072 have had at least one ultrasound screening for congenital anomalies (98.5%). Congenital anomalies, single or multiple and 'minor' or 'major', were clearly defined in order to allow comparisons. The excluded congenital anomalies were listed as defined in the Eurocat Register. A total of 381 fetuses (2.3%) were structurally abnormal. Of the 381, 154 were correctly detected by ultrasound (sensitivity 40.4%). Altogether 15,972 fetuses were true negatives (specificity 99.9%). Eight (0.05%) were false positive for congenital anomalies. The positive predictive value was 95.1% and the negative predictive value was 98.6%. Ultrasound diagnoses were correctly achieved before 23 weeks of gestation for 21% of the anomalies. The gestational age, operator and technical dependence of ultrasound screening for congenital anomalies is discussed.

Fetal Doppler flow measurements in the early second trimester: a correlation with fetal outcome.

In 31 women with a singleton pregnancy, abdominal duplex doppler examinations were performed at W16-W17, W26 (+/- 2 weeks) and W34 (+/- 2 weeks) in order to study the flow velocity wave (FVW) indices in the early second trimester and their predictive value for fetal outcome. 24 women with a normal pregnancy outcome were considered as the reference group. In the early second trimester, end-diastolic block occurs frequently at the 150 Hz thump filter setting (15/24 in the fetal descending aorta, 19/24 in the umbilical artery). At the 50 Hz filter setting, end diastolic block appeared in 1/24 cases in the aorta and in 2/24 cases in the umbilical artery. The finding did not persist throughout pregnancy. The flow-velocity indices in the early second trimester in the small-for-dates were comparable to the normal group. We conclude that high peripheral resistance is a common finding in the fetal circulation in early pregnancy. It is not predictive of subsequent growth retardation.

Ovarian cysts in the fetus and neonate.

Three cases of antenatally detected cystic ovarian tumor are reported. Differential diagnostic aspects and management are discussed.

Gestodene: clinical experience with an innovative progestogen used in a combination oral contraceptive preparation.

The contraceptive efficacy, tolerance, and safety of a new monophasic oral contraceptive that combines 75 mcg gestodene (delta-15- levonorgestrel) and 30 mcg ethinyl estradiol were studied in 75 women (944 cycles) currently at risk for pregnancy. 20 women were nulliparous. No woman became pregnant during the trial, nor were vital signs of body weight affected by the drug. Cycle control was excellent, with no bleeding irregularities in 92% of the cycles. Serious complications did not occur. The low incidence of side effects, e.g. headache (9%) and breast tenderness (8%), indicated that the gestodene combination was well-tolerated. In a subgroup of 10 women, no changes in routine laboratory tests could be demonstrated after 12 cycles of treatment.

Clinical experience with an ethinyl estradiol-desogestrel oral contraceptive.

Desogestrel (150 micrograms), a potent progestogen virtually devoid of androgenic activity, was used in combination with 30 micrograms ethinyl estradiol as an oral contraceptive preparation (Marvelon). 219 women completed a total of 4074 cycles, and the use-effectiveness was 0.58 Pearl Units. Serious side effects were not observed. The drug-related discontinuation index was 12.8% in six months.

Late spontaneous disappearance of fetal ascites of unknown origin.

The reported case demonstrates the possibility that massive fetal ascites may spontaneously disappear even in late pregnancy.

Preterm labor: the role of amnionitis.

This prospective study represents an attempt to find a link between subclinical intra-amniotic infection and preterm singleton labor in 27 asymptomatic patients with intact membranes. Liquor amnii was obtained by transabdominal amniocentesis and cultured for anaerobic and aerobic bacteria and mycoplasmas. None of these cultures was positive. The value of gas-liquid chromatographic determination of volatile and non-volatile acids in liquor amnii could not be determined because amniotic infections did not occur in the population under study.