Dandy-Walker malformation as sonographic marker for fetal triploidy.

Fetal triploidy is a frequent reason for early abortion, and only few fetuses survive into the second trimester of pregnancy. Common sonographic markers for triploidy in the second trimester are severe asymmetric growth restriction (triploidy of maternal origin) and partial molar changes of the placenta (triploidy of paternal origin), together with structural fetal malformations. We report prenatal sonographic findings of thirteen triploid fetuses between 18 and 34 weeks' gestational age (eleven fetuses with 69, XXX, and two fetuses with 69, XXY). Intrauterine growth restriction (11/13 fetuses), oligohydramnios (8/13), bilateral cerebral ventriculomegaly (6/13), structural heart defects (4/13), and Dandy-Walker malformation or Dandy-Walker variant (4/13) were the most frequent findings. We conclude that the Dandy-Walker malformation and Dandy-Walker variant should be considered as additional sonographic markers for fetal triploidy.

[Testicular feminization--sequelae of chronic neglect of a neoplastic process]. / Zur testikulären Feminisierung--Folgen langdauernder Verschleppung eines neoplastischen Geschehens.

This paper reports on a 56-year-old patient with a history of "testicular feminization syndrome" who was admitted to hospital because of a rapid gain in her abdominal girth (106 cm). A benign cyst was removed laparotomically which, histologically, was equivalent to a cystadenofibroma. Based on this case report, the clinical significance of testicular feminization syndrome and the necessity for gonadectomy due to the risk of growth of a possibly malignant tumor are discussed.

Twenty-four cordocenteses in one woman.

We report on 2 consecutive pregnancies in a woman with a history of neonatal death secondary to Rhesus alloimmunization. Her first subsequent pregnancy was complicated by fetal hydrops at 20 weeks of gestation. The fetus received a total of 11 intrauterine transfusions, and was delivered at 38 weeks. In the patient's next pregnancy, the fetus developed hydrops at 18 weeks of gestation. Thirteen intrauterine transfusions were given to correct fetal anemia, and a healthy baby was delivered at 38 weeks of gestational age. Continuation of intravascular transfusion therapy may represent a reasonable alternative to selective premature delivery even in cases with highly aggressive maternal Rhesus alloimmunization.

Unfused amnion and chorion after 14 weeks of gestation: associated fetal structural and chromosomal abnormalities.

OBJECTIVE: To assess possible associations between delayed chorioamniotic fusion after the end of the first trimester and fetal structural and/or chromosomal abnormalities. DESIGN: We prospectively studied 492 fetuses from high-risk pregnancies between 14 and 18 weeks of gestation by transabdominal ultrasonography. Of these, 60 (12%) had unfused amnion and chorion. RESULTS: No additional abnormalities were detected in 28/60 fetuses (47%). Karyotyping was performed in 27/28 cases, and one fetus had trisomy 13 (4%). Ten of 24 fetuses (42%) of this group attending a second mid-trimester scan after 18 weeks of gestation had abnormal sonographic findings not noted at the initial scan. Thirty-two of 60 (53%) fetuses had additional abnormalities at the initial scan: cystic hygroma (n = 12), increased nuchal translucency (n = 10) and other abnormalities (n = 10). Karyotyping revealed aneuploidy in 13 of 28 fetuses (46%) tested: trisomy 21 (n = 5), Turner's syndrome (n = 3), trisomy 18 (n = 3) and trisomy 13 (n = 2). Additional fetal abnormalities were detected only at the second scan after 18 weeks of gestation in three of eight fetuses (38%). CONCLUSIONS: These preliminary data suggest that the sonographic finding of unfused amnion and chorion after 14 weeks of gestation may be associated with fetal structural and/or chromosomal abnormalities.

Ultrasound evaluation of fetal spine length between 14 and 24 weeks of gestation.

The objective of our study was to establish a nomogram of fetal spine length in the second trimester of pregnancy by using two and three-dimensional ultrasound. Fetal spine length was measured prospectively by means of transabdominal ultrasonography in 114 normal singleton pregnancies between 14 and 24 weeks of gestation. Regression analyses were performed on spine length, gestational age, biparietal diameter and femur length. Supplementary three-dimensional ultrasound to assess fetal spine length was performed in 75 cases. Fetal spine length, as a function of gestational age, was expressed by the following regression equation: spine length (mm) = -47.2 + 7.16 x gestational age (weeks), with a Pearson correlation coefficient of R(2)=0.956. The results of the measurements revealed no difference between two and three-dimensional ultrasound. Our study defines the normal limits of fetal spinal length in the second trimester of pregnancy and demonstrates a high correlation between spinal length, gestational age, biparietal diameter and femur length. However, there are still too few prenatal research data to say whether and to what extent an assessment of fetal spine length at this stage of pregnancy can be used for prenatal diagnosis of congenital syndromes, which, among other manifestations, are marked by fetal spine lengthening or shortening.

Three-dimensional ultrasonographic imaging of fetal tooth buds for characterization of facial clefts.

The purpose of this prospective study was to investigate whether the antenatal characterization of fetal facial clefts can be improved by three-dimensional ultrasonographic visualization of fetal tooth buds. Between January 1996 and June 1998, seventeen consecutive fetuses with facial clefts were examined for fetal maxillary tooth buds in the cleft area using three-dimensional multiplanar reconstruction. It was possible in all cases to classify the clefts either as cleft lip alone or unilateral cleft lip and palate or bilateral cleft lip and palate. Three-dimensional computed tomography and histological jaw sections of three stillborn infants were produced in order to examine the correlation between the sonographic, radiographical and histological findings. The prenatal characterization of the facial clefts by means of a visualization of the tooth buds showed to be accurate postnatally in all cases. The sonographic proof of tooth buds might gain increasing importance as this technique seems to facilitate and improve the prenatal classification of suspected facial clefts.

Isolated Dandy-Walker malformation: prenatal diagnosis in two consecutive pregnancies.

We report a family with recurrent Dandy-Walker malformation (DWM). The first offspring was found prenatally to have isolated DWM at 30 weeks' gestation. Ultrasonography at 19 weeks' gestation in the subsequent pregnancy revealed isolated DWM in both dizygotic twins. Chromosome analysis was normal in all three infants, and autopsy confirmed that no other congenital abnormalities were present. Evidence suggests that rare families transmit the disorder in an autosomal or X-linked recessive pattern, with a high recurrence risk.

[Echogenic intracardiac structures (golf ball phenomenon) as predictors of chromosome anomalies]. / Zur Wertigkeit der echodichten intrakardialen Strukturen beim Fetus (= "Golfballphänomen") als Hinweiszeichen für chromosomale Anomalien.

UNLABELLED: Small echogenic areas in the fetal heart are known as the golf ball phenomenon. These structures are considered by some to be a marker for chromosomal anomalies. AIM: To prospectively study the relationship of echogenic intracardiac structures and chromosomal aberrations. METHODS: Over a 15 month period (6/96-9/97) 4500 unselected fetuses between 16-31 weeks were screened for malformations; in each case echogenic intracardiac structures were sought. RESULTS: In 77 cases (1.17%) single or multiple echogenic punctate intracardiac structures could be diagnosed. In 60 fetuses (78%) chromosome analysis was performed. Two (3.3%) had chromosomal abnormalities--trisomy 21 and 45.XO/46.XX. CONCLUSION: The golf ball phenomenon appears to be a normal variation in the development of the papillary muscle. This sign is usually easily to identify and if present, should lead to a more detailed screening for anomalies. In the case of other sonographic abnormalities, with advanced maternal age or with a positive triple test, a chromosomal analysis should be performed.

Male fetuses are particularly affected by maternal alloimmunization to D antigen.

BACKGROUND: It is hypothesized that male fetuses are more severely affected by fetomaternal alloimmunization to D antigen than female fetuses. STUDY DESIGN AND METHODS: One hundred four consecutive pregnancies with single D+ fetuses (51 males, 53 females) and maternal anti-D titers >16 were analyzed retrospectively. RESULT: Sixty fetuses (58%) received intrauterine transfusions. Male fetuses required more transfusions than females (5.0 vs. 2.0, p = 0.0001). At the initial transfusion, male fetuses had a lower gestational age (24.5 vs. 31.0 weeks, p = 0.0007), cord blood hemoglobin content (6.45 vs. 8.75 g/dL, p = 0.01), and hematocrit (19.8 vs. 26.8%, p = 0.004) than female fetuses. After adjustment for maternal gravidity, parity, and history of affected offspring, the odds ratio for development of hydrops by male fetuses was 13.1 (95% CI 2.69-63.6, p = 0.001). Perinatal mortality was higher in male (18%) fetuses than in female (6%) (adjusted odds ratio for males 3.38; 95% CI 0.59-19.46, p = 0.17). CONCLUSION: Male fetuses are particularly affected by maternal alloimmunization to D and require more intense antepartum surveillance than female fetuses.

Three-dimensional ultrasound evaluation of fetal tooth germs.

OBJECTIVE: A total of 126 genetic syndromes are associated with oligodontia or anodontia. The most frequent of these are ectodermal dysplasias, all types of facial cleft and Down's syndrome. With the advent of three-dimensional ultrasonography, accurate assessment of many fetal abnormalities has become possible. The objective of this study was to determine the effectiveness of three-dimensional ultrasonography in the visualization of fetal tooth germs. DESIGN: We examined 45 women with singleton pregnancies between 16 and 36 gestational weeks who were undergoing routine ultrasound check-ups for fetal tooth germs with conventional two-dimensional ultrasonography, followed by three-dimensional ultrasonography using multiplanar reconstruction. RESULTS: In the 45 fetuses studied, fetal tooth germs were visualized at the first attempt in 36 cases (80%). In the group of fetuses aged between 19 and 36 weeks of gestation, the overall detection rate in both jaws was at least 86% for three-dimensional ultrasonography, compared to at least 56% for two-dimensional ultrasonography. CONCLUSIONS: Three-dimensional ultrasonography was clearly superior to conventional ultrasonography in the visualization and evaluation of fetal tooth germs. Three-dimensional ultrasonography therefore has a potential for enhanced visualization of fetal tooth germs and may aid in the antenatal detection of syndromes associated with oligodontia or anodontia.

An undetected reason for severe fetal growth retardation.

In a severely growth-retarded fetus, repeated Doppler ultrasound examinations from the 23rd week of gestation on, showed normal and highly pathological blood flow velocities in the umbilical artery. A caesarean section performed in the 39th week of gestation revealed two true umbilical cord knots. Sonographic screening for umbilical cord knots may be valuable in similar cases. The use of color Doppler could help to visualize the entire course of the umbilical cord.

Fetal bradycardia following cordocentesis.

Several clinical investigations on the course and outcome of pregnancies following cordocentesis have mentioned the occurrence of fetal bradycardia at the time of umbilical cord puncture. The prognostic impact of this common complication has remained controversial. Our purpose was to investigate the prevalence and the short-term and long-term consequences of fetal bradycardia associated with cordocentesis. This study included all 339 cordocenteses performed in 290 fetuses at the Division of Prenatal Diagnosis and Therapy, University of Vienna, between 1991 and 1994. Clinically significant bradycardia was defined as a drop in the heart rate to less than 100 beats/min for a period of > or = 60 s. Bradycardia during or immediately after cordocentesis was observed in 13 cases (3.8 per cent). The fetal/neonatal loss rate per procedure was 61.5 per cent (8/13) in cases with bradycardia and 3.1 per cent (10/326) in those without bradycardia (P < 0.001). Early gestational age and hydrops fetalis correlated significantly with the development of bradycardia at cordocentesis. The other risk groups, including fetuses with intrauterine growth retardation, the puncture site, and the number of puncture attempts did not correlate with fetal bradycardia. Our results indicate that prolonged fetal bradycardia during or after cordocentesis is characteristic of a group of fetuses with an especially unfavourable prognosis.

Dandy-Walker malformation diagnosed before 21 weeks of gestation: associated malformations and chromosomal abnormalities.

This study examined rates of concomitant structural and chromosomal abnormalities in 14 fetuses with a diagnosis of Dandy-Walker malformation or Dandy-Walker variant before 21 weeks' gestational age, compared to 14 fetuses with a diagnosis of Dandy-Walker malformation or variant between 21 weeks' gestation and delivery. A total of 24 fetuses had Dandy-Walker malformation and four had Dandy-Walker variant. Eight of the fetuses with the malformation had ventriculomegaly: one of the fetuses with early diagnosis and seven with later diagnosis (p = 0.027). None of the fetuses with Dandy-Walker variant had ventriculomegaly. The overall prevalence of concomitant structural abnormalities was 13/28; 8/14 for fetuses with early prenatal diagnosis and 5/14 for fetuses with late prenatal diagnosis of the malformation or the variant. Chromosomal abnormality rates were significantly higher among fetuses with early prenatal diagnosis (7/14) than among those with later prenatal diagnosis (1/14; p = 0.032). Abnormal karyotypes were more prevalent among fetuses without ventriculomegaly (7/20), compared to fetuses with ventriculomegaly (1/8). We conclude that fetuses with an antenatal diagnosis of Dandy-Walker malformation or Dandy-Walker variant before 21 weeks' gestational age have worse prognosis than fetuses with a later prenatal diagnosis of the same defect.

Umbilical artery Doppler velocimetry in fetuses with a single umbilical artery.

OBJECTIVE: Doppler waveform analysis of the umbilical artery is an important tool for the evaluation of high-risk pregnancies. Yet, available data are based on normal values from three-vessel umbilical cords. Our purpose was to evaluate the value of umbilical artery Doppler velocimetry in fetuses with a single umbilical artery. METHODS: One hundred thirteen consecutive singleton fetuses with a single umbilical artery between 16 and 40 weeks' gestational age were studied prospectively at a tertiary referral center for prenatal diagnosis and therapy. Complete follow-up was obtained from 103 cases. RESULTS: The systolic-diastolic ratio in the umbilical artery was abnormal in 31 fetuses (30%) and normal in 72 fetuses (70%). Fetuses with abnormal Doppler waveform analysis in the umbilical artery were significantly more likely to be growth restricted (55 compared with 15%), to have complex malformations (58 compared with 1%) or an abnormal karyotype (29 compared with 0%), or not to survive the fetal/perinatal period (42 compared with 0%) than those with normal Doppler waveform analysis. CONCLUSION: Fetuses with a single umbilical artery and abnormal umbilical Doppler velocimetry had a significantly increased risk of adverse fetal and neonatal outcome compared with those with a single umbilical artery but normal Doppler studies.

Ehlers-Danlos syndrome type II in pregnancy.

Ehlers-Danlos syndrome type II is a rare connective tissue disorder with unknown pregnancy-related maternal and fetal morbidity. The course and outcome of pregnancy in a primigravid woman with Ehlers-Danlos syndrome type II is described. At 17 weeks' gestation a prophylactic Shirodkar cerclage was performed without complications. From the 29th week on, decreased blood flow of the umbilical artery was measured, and fetal growth retardation was evident from 34 weeks' gestation on. Pregnancy ended at 41 weeks by spontaneous vaginal delivery of a healthy 2900-g female infant. Previous reports of 16 women with Ehlers-Danlos syndrome type II, who had a total of 24 pregnancies, are reviewed.

Spontaneous rise of fetal platelet counts despite increasing anti-HPA-5b antibodies.

BACKGROUND AND OBJECTIVES: Maternal anti-HPA alloantibodies are a rare cause of severe fetal thrombocytopenia. So far there have been no reports on the dynamics of maternal anti-HPA-5 during gestation and its effect on the fetus. MATERIALS AND METHODS: We monitored maternal anti-HPA-5b antibody titers and fetal platelet counts during gestation in a woman with known anti-HPA-5b alloimmunization. The patient was a 32-year-old woman in her third pregnancy. The 1st pregnancy and delivery of a healthy child had been uneventful. At delivery, anti-HPA-5b was detectable in the maternal serum. A 2nd pregnancy ended in early miscarriage. RESULTS: A steady rise in the alloantibody titer was recorded throughout the 3rd pregnancy. Therefore, cordocentesis was performed at 28 weeks of gestation (platelet count 76 x 10(9)/l). Serial platelet transfusions were administered to the fetus at 28, 32, and 37 weeks of gestation. The platelet counts rose spontaneously thereafter and were 220 x 10(9)/l at delivery, despite an increase in the anti-HPA-5b antibody titer. The child developed normally during the first year of life. CONCLUSIONS: This case illustrates the spontaneous recovery of fetal platelet counts in late pregnancy despite a rise in maternal alloantibody titer.

The prostacyclin stimulating plasma factor activity improves thromboresistance only if vascular PGI2-production is intact.

PGI2 is important in regulating platelet vessel wall interaction (1). In perfusion chamber experiments the amount of PGI2 formed was inversely related to the amount of platelets deposited (2). In 1978 a plasma factor was described which stimulates vascular PGI2-production (3). In later years, this activity has been monitored in different patient groups (for review see 4). Interestingly, it has been found that diseases associated with an increased bleeding tendency such as uraemia (5) or hepatic failure (6) were associated with an increased PF-activity while others with an enhanced thrombophilia sometimes show an absence of PF-activity (7). Recently, the PGI2 stimulating plasma factor has been purified and cloned (8). It was the aim of these experiments to assess whether PF-activity plays a role in local hemostasis regulation under in-vivo flow conditions and whether this is dependent on the presence of an intact PGI2-formation.

Antenatal depiction of fetal digits with three-dimensional ultrasonography.

OBJECTIVE: The effectiveness of three-dimensional ultrasonography in visualizing fetal digits was examined. STUDY DESIGN: The digits of 72 fetuses, including 2 with skeletal dysplasia, were examined prospectively with both conventional and three-dimensional ultrasonography. RESULTS: Complete visualization of all fetal digits was obtained more often with three-dimensional ultrasonography than with two-dimensional ultrasonography. CONCLUSION: Three-dimensional ultrasonography has the potential to facilitate depiction of fetal digits, which may enhance prenatal identification of fetal malformations and chromosomal abnormalities in high-risk pregnancies.

A case of myocardial infarction complicating pregnancy--a role for prostacyclin synthesis stimulating plasma factor and lipoprotein (a)?

Coronary heart disease and myocardial infarction (MI) is rarely seen in women below the age of 40 years and even more rarely during pregnancy. The first case of MI during pregnancy was described by Katz in 1992 (1). Current literature reviewed by Samara et al. 1989 (2) listed only 62 cases of proven MI during pregnancy or in the puerperium, the maternal mortality rate being as high as 24%. In this paper we are going to report on a 26-year old pregnant woman suffering from MI, probably as a result of a haemostatic imbalance caused by a lack of prostacyclin synthesis stimulating plasma factor (PF) and elevated lipoprotein (a) (Lp (a)). The potentially deleterious thromboembolic complications in patients with PF-deficiency, especially in combination with elevated Lp (a), should be carefully considered.