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Biomedical subjects

M Hansmann

Publications and source records attributed to M Hansmann.

At least 19 recordsLinked to original sources

[Significance of prenatal diagnosis of lip-jaw-palatal clefts].

UNLABELLED: AIMS AND PATIENTS: Visualization of sonographic anatomy of the fetal face has acquired special importance, as conspicuous features in the phenotype facilitate the diagnosis of syndrome-like or chromosomally induced clinical conditions. Between 1990 and 1999, an orofacial cleft was diagnosed sonographically in 70 fetuses at the Clinic for Prenatal Diagnosis and Therapy of Bonn University Hospital. The aim of the study was to investigate whether the type of cleft correlates with the prevalence of associated anomalies or with karyotyping after amniocentesis. The types of associated anomalies and the neonatal outcome of these 70 fetuses were also reexamined. RESULTS: We found a clearly positive correlation with the type of cleft, both for the associated anomalies and for the karyotype. The size of the cleft was much smaller with normal karyotypes than in the case of fetuses with trisomy 18. The trisomy 13 fetuses displayed the most pronounced clefts. None of the fetuses with an isolated lip cleft had an associated anomaly; all were born alive and could be treated surgically. In contrast, all the fetuses with a median cleft had severe associated anomalies that were incompatible with life. Associated anomalies occur more frequently with bilateral cleft lip and palate than with unilateral clefts. The fetuses with a unilateral cleft had a higher survival rate than those with a bilateral cleft. The most common associated anomaly in cleft fetuses is located in the region of the central nervous system. DISCUSSION: Early sonographic information on cleft formation in combination with the karyotype can give rise to differentiated obstetric measures up to the point of termination of pregnancy in the event of an infaust prognosis.

Abnormalities, Multiple↗

Venous Doppler velocimetry in the surveillance of severely compromised fetuses.

OBJECTIVE: To investigate whether venous Doppler velocimetric signs of cardiac decompensation might predict fetal demise in severely compromised fetuses. MATERIAL AND METHODS: This was a prospective study involving 154 growth-restricted fetuses, 37 of which were found to have reversed flow in the umbilical artery (BFC III). Doppler velocimetry of the right hepatic vein and ductus venosus were investigated serially and the presence of umbilical venous pulsations also registered. Only the final examination prior to birth or fetal demise was accepted for analysis and related to obstetric outcome defined as gestational age at birth, birth weight and perinatal mortality. In cases of BFC III the venous velocimetry of 15 nonsurviving fetuses was compared to that of the 22 survivors. RESULTS: There was a significant correlation between venous blood velocity and placental vascular resistance. In the right hepatic vein there was a significant decrease in peak systolic and end-systolic velocities and an increase of maximum velocity during atrial contraction and pulsatility (P < 0.05). A decrease of all velocities and increase of pulsatility were noted in the ductus venosus (P < 0.05). A reversed flow in the ductus venosus was found in 9/37 fetuses and double umbilical venous pulsations in 16/37 fetuses. However, the hepatic vein seemed to be a better predictor of impending mortality than the ductus venosus. Changes in diastolic venous blood velocity and a double pulsation in the umbilical vein were closely related to perinatal mortality, although these parameters did not provide a useful threshold to optimize the timing of delivery. CONCLUSION: Diastolic venous velocimetry changes significantly in severely compromised fetuses. These changes might be of great clinical value in deciding on the timing of delivery to minimize damage to the fetus and newborn.

Blood Flow Velocity↗

Neurodevelopmental outcome after intrauterine red cell transfusion for parvovirus B19-induced fetal hydrops.

OBJECTIVE: To assess long term neurodevelopmental outcome of children after intrauterine intravascular red cell transfusion (JUT) for Parvovirus B19-induced fetal hydrops. DESIGN: Data of study children were investigated retrospectively. Neurodevelopmental evaluation was performed by appropriate standard tests (Griffiths, Snijders-Oomen, Kaufmann Assessment Battery for Children tests). SETTING: Tertiary care university teaching hospital. SAMPLE: Twenty children who had Parvovirus-induced fetal hydrops and intrauterine transfusion of packed red blood cells (IUT). METHODS: Retrospective chart analysis and standard neurodevelopmental testing. MAIN OUTCOME MEASURES: Developmental quotient (DQ) and intelligence quotient (IQ) according to the age at testing. RESULTS: Twenty survivors of Parvovirus B19-induced fetal hydrops successfully treated by IUT were followed until 13 months to nine years of age. On clinical follow up, no neurologic sequelae were evident. Neurodevelopmental scores of all children ranged within two standard deviations of a normal population (median 101, range 86-116) and exceeded one standard deviation in three children. There was no significant neurodevelopmental delay. CONCLUSION: Children having survived successful IUT for Parvovirus B19-induced fetal anaemia and hydrops have a good neurodevelopmental prognosis. Our results support the use of IUT for correction of Parvovirus B19-induced fetal anaemia and subsequent hydrops.

Blood Transfusion, Intrauterine↗

The role of ovarian volume in an in vitro fertilization programme as assessed by 3D ultrasound.

The study was designed to investigate the role of ovarian volume, as assessed by three-dimensional (3D) sonography, in predicting conception in an in-vitro fertilization-embryo transfer (IVF-ET) programme. Transvaginal 3D sonography was performed in 152 cycles before initiation of ovarian stimulation (day 1) and on the day of oocyte retrieval. Ovarian volume showed no significant correlation with IVF outcome. On the contrary, all ovarian measurements were lower, albeit nonsignificantly, in the conception group. Fifteen patients (15/152, 9.9%) had a minimum unilateral ovarian volume of < or =3 mL (1 SD below the mean) on day 1 of the stimulation cycle. In this subgroup, the likelihood of conception was 6.7% (1/15) versus 21.9% (30/137) in patients with an initial minimum ovarian volume of >3 mL. This difference did not reach statistical significance. In both groups, cancellation rates due to poor ovarian response or lack of fertilization were similar. In conclusion, ovarian volumetry as assessed by three-dimensional ultrasound failed to predict conception in women undergoing IVF treatment.

Adult↗

Endometrial receptivity in an in vitro fertilization program as assessed by spiral artery blood flow, endometrial thickness, endometrial volume, and uterine artery blood flow.

OBJECTIVE: To investigate the role of sonographic parameters in assessing endometrial receptivity in an in vitro fertilization (IVF) program. DESIGN: Prospective clinical study. SETTING: University setting. PATIENT(S): One hundred thirty-five patients in our IVF program, selected prospectively on the day of oocyte retrieval. INTERVENTION(S): Transvaginal ultrasound examination was performed before oocyte collection. MAIN OUTCOME MEASURE(S): Association between implantation rate and spiral artery blood flow (primary outcome measure) and between implantation rate and endometrial measurements as well as uterine artery blood flow (secondary outcome measures). RESULT(S): Overall implantation rate was 23.7% per cycle. Subendometrial blood flow was detected in 113 (83.7%) cases, with pregnancy occurring in 21.2%. Mean spiral artery pulsatility index values were 1.12 +/- 0.28 and 1.21 +/- 0.27 for nonconception and conception cycles, respectively. Nondetectable spiral artery blood flow was not associated with a lower implantation rate. Neither endometrial thickness nor endometrial volume was correlated with the likelihood of successful implantation. Minimum endometrial thickness and volume associated with pregnancy were 6.9 mm and 1.59 mL, respectively. CONCLUSION(S): Neither Doppler sonography of the spiral or uterine arteries nor measurement of the endometrial thickness or volume allowed a reliable prediction of subsequent IVF outcome.

Arteries↗

Fetal cleft lip and palate: sonographic diagnosis, chromosomal abnormalities, associated anomalies and postnatal outcome in 70 fetuses.

OBJECTIVE: The aim of this study was to determine the relationship between facial clefts, associated malformations and chromosomal abnormalities. STUDY DESIGN: Sonograms of 70 fetuses with cleft lip with or without cleft palate were prospectively and retrospectively evaluated in our tertiary referral center for the nature of the cleft lip or palate and for the nature of the associated anomalies. Additionally, karyotyping was performed in 63 of the 70 patients (90%). RESULTS: The frequency of additional anomalies and the mortality rate in this selected population varied with the type of cleft. None of the fetuses presenting an isolated cleft lip had additional anomalies and all survived. All fetuses presenting a median facial cleft had concurrent anomalies (particularly of the central nervous system (90%)) and a fatal outcome. Associated defects were more frequent in fetuses with bilateral clefts (72%) than in those with unilateral clefts (48%). Fetuses with a unilateral cleft lip with or without cleft palate had a better survival rate (52%) than those with a bilateral cleft lip with or without cleft palate (35%). The frequency and type of chromosomal abnormalities varied with the type of cleft. The highest rate of chromosomal abnormalities was found in fetuses with median clefts (82%). CONCLUSIONS: Although no conclusions regarding the prevalence of chromosomal or other anomalies in patients with a cleft lip with or without cleft palate in the general population could be drawn, the study revealed a strong relationship between the type of facial cleft, associated malformations, chromosomal abnormalities and fetal outcome.

Abnormalities, Multiple↗

Prenatal diagnosis of abnormalities of the fetal venous system.

OBJECTIVE: To present our experience in the prenatal diagnosis of anomalies of fetal veins using high-resolution color Doppler ultrasound. DESIGN: An observational study of 16 fetuses with abnormalities of the umbilical, portal, hepatic and caval venous system being diagnosed at the Division of Prenatal Diagnosis and Therapy (Bonn, Germany) over the past 5 years. The abnormality of the venous system, the underlying embryologic disorder and the outcome of the pregnancy are presented and compared with the literature. RESULTS: In group A, eight fetuses had an abnormal course of the umbilical vein with a patent (n = 3) or absent (n = 5) ductus venosus. No portal veins and absent or abnormal hepatic veins were visualized by color Doppler sonography. Six fetuses (75%) did not have an associated malformation and have survived. Two pregnancies with fetal hydrops due to a small heart and to Turner's syndrome were terminated or ended in fetal demise. In group B, seven of eight fetuses with an abnormal caval system had a situs ambiguus or an atrial isomerism. A cardiac defect was detected in six cases (86%). These six pregnancies ended in four terminations of pregnancy and two infant deaths due to the severity of the congenital cardiac defect. One child with a normal heart and a child with an isolated abnormal course of the lower inferior vena cava are developing well. CONCLUSIONS: In a targeted fetal scan the course of the umbilical vein, ductus venosus, the portal and hepatic veins and inferior vena cava should be carefully examined using color Doppler. Any suspicious finding should be followed by a detailed assessment of the specificity of this abnormality taking into consideration the embryologic development of the fetal venous system together with the associated malformations.

Abnormalities, Multiple↗

Diagnosis of a fetal mesoblastic nephroma by 3D-ultrasound.

We report a case of a fetal renal tumor detected prenatally on 3D-ultrasound. As the lesion was well encapsulated the initial sonographic diagnosis was that of a nephroblastoma. Volume calculation by the 3D technique gave a reliable estimation of the tumor size. Contrary to all published case reports concerning antenatally diagnosed mesoblastic nephromas, there was no polyhydramnios. Elective delivery was performed by Cesarean section at 38+ weeks gestation. The neonate underwent left nephrectomy on the second day of life. The subsequent course was uneventful without recurrence of the tumor.

Adult↗

Fetal weight estimation by three-dimensional ultrasound.

OBJECTIVE: To assess the value of three-dimensional volume scanning in predicting fetal weight at birth. STUDY DESIGN: Prospective cross-sectional study within 7 days of delivery. A total of 190 patients were considered for final analysis (formula-finding group: n = 125, formula evaluation group: n = 65). Inclusion criteria were a singleton pregnancy and absence of chromosomal or significant structural anomalies. Three-dimensional (3D) volumetric measurements of the fetal thigh, upper arm and abdomen were performed together with conventional two-dimensional (2D) biometry. RESULTS: All measurements were completed successfully in each patient. Polynomial regression analysis with standard biometric parameters and volumes of the upper arm, the thigh and the abdomen was employed to yield the best-fit formula for prediction of fetal weight at birth. The new 3D formula (estimated fetal weight (EFW) = -1478.557 + 7.242 x thigh volume + 13.309 x upper arm volume + 852.998 x log10 abdominal volume + 0.526 x BPD3) proved to be superior to established 2D equations with the lowest mean error (25.8 +/- 194.4 g), the lowest mean absolute error (155.2 +/- 118.2 g) and the lowest mean absolute percentage error (6.1 +/- 5.0%) when studied prospectively in the evaluation group. CONCLUSION: 3D sonography allows superior fetal weight estimation by including soft tissue volume. Further studies at the extremes of fetal weight are needed to confirm the value of our formula in these subsets.

Adult↗

The size of the fetal thoracolumbar spine: a three-dimensional ultrasound study.

OBJECTIVE: To evaluate three-dimensional sonographic measurements of the thoracolumbar spine in the 16-37 week fetus. DESIGN: Prospective cross-sectional study. SUBJECTS: Two hundred and eighty-nine patients between 16 and 37 weeks of gestation were enrolled at the time of their anomaly scan or routine third trimester scan if fetal size was appropriate for gestational age and if no fetal anomalies were apparent. METHODS: Three-dimensional (3D) volume calculation of the first and fifth lumbar vertebral body, the 12th thoracic vertebral body and the whole lumbar spine was performed in the transverse plane of the multiplanar mode while lumbar spine length was determined in the sagittal plane. RESULTS: All volumetric measurements were significantly correlated with gestational age and estimated fetal weight. For each examined parameter regression analysis was performed to describe the 'best-fit' equation. CONCLUSIONS: 3D sonography allows volume calculation of the fetal spine. Our study provides further data relating to volume changes in the developing fetal spine between 16 and 37 weeks of gestation.

Cross-Sectional Studies↗

Quantitative assessment of subendometrial blood flow by three-dimensional-ultrasound is an important predictive factor of implantation in an in-vitro fertilization programme.

This study was designed to investigate the role of three-dimensional (3D) power Doppler sonography of the (sub-) endometrial area on the first day of ovarian stimulation in predicting the outcome of an in-vitro fertilization (IVF) programme. Among the 75 cycles analysed, the overall pregnancy rate was 20% (15/75) per cycle and 23.8% (15/63) per embryo transfer. Intra-observer variability of the colour histogram was checked in 14 patients with the results demonstrating a high level of agreement. Neither endometrial measurements nor uterine blood flow were correlated with the pregnancy rate. In contrast, all 3D indices were significantly lower in conception compared with non-conception cycles (P < 0.05). Logistic regression analysis found the subendometrial flow index to be the strongest predictive factor of IVF success among the tested sonographic parameters (P = 0.04). In conclusion, quantitative assessment of spiral artery blood flow may be of predictive value for implantation in IVF cycles even before ovarian stimulation therapy is started.

Adult↗

Homozygous alpha-thalassaemia and hypospadias--common aetiology or incidental association? Long-term survival of Hb Bart's hydrops syndrome leads to new aspects for counselling of alpha-thalassaemic traits.

UNLABELLED: Fetuses with homozygous alpha-thalassaemia develop Hb Bart's hydrops fetalis syndrome, which usually leads either to abortion or fetal/neonatal death. We report diagnosis, intrauterine transfusion therapy, neonatal intensive care management and long-term follow-up of a Vietnamese infant who survived Hb Bart's hydrops fetalis syndrome. During the first 2 years the child had normal development. In addition, the patient exhibited penoscrotal hypospadias. Despite a thorough endocrinological work-up the aetiology of genital ambiguity could not be elucidated. A review of the literature showed an association of homozygous alpha-thalassaemia and hypospadias in all surviving male children, suggesting a common aetiology for both entities. CONCLUSION: On the basis of our findings, we speculate that an unknown gene on chromosome 16 responsible for genital formation is altered in homozygous alpha-thalassaemia.

Chromosomes, Human, Pair 16↗

Endoscopic laser surgery versus serial amniocenteses in the treatment of severe twin-twin transfusion syndrome.

OBJECTIVE: Severe twin-twin transfusion can be treated by either serial amniocenteses with removal of large volumes of amniotic fluid or by endoscopic laser coagulation of the communicating vessels. We investigated the benefit of laser surgery in comparison to serial amniocenteses in terms of pregnancy outcome. STUDY DESIGN: The data used in this comparative study were collected from 116 patients with severe twin-twin transfusion syndrome between 17 and 25 weeks' gestation. The patients were grouped according to the treatment center. The first group comprised 73 patients (median gestational age 20.7 weeks) treated in Hamburg by fetoscopic laser coagulation of the vascular placental anastomoses between January 1995 and May 1997. The second group comprised 43 patients (median gestational age 20.4 weeks), fulfilling identical diagnostic criteria and treated in Bonn by serial amniocenteses between 1992 and 1996. RESULTS: The overall fetal survival rate was not significantly different (61%, 89/146, vs 51%, 44/86; P =.239). There was a significantly higher proportion of pregnancies with >/=1 survivor in the laser-treated group (79%, 58/73, vs 60%, 26/43; P =.033). The number of cases with spontaneous intrauterine fetal death of both fetuses was significantly lower in the laser-treated group (3%, 2/73, vs 19%, 8/43; P =.003). The incidence of abnormal ultrasonographic findings in the brain was significantly lower among surviving neonates after laser surgery than after amniocenteses (6%, 5/89, vs 18%, 8/44; P =. 03). For pregnancies with >/=1 live-born baby, a significantly longer interval between first intervention and delivery (median 90 vs 72 days, P =.022) leading to a significantly higher gestational age at delivery (median 33.7 vs 30.7 weeks, P =.018) was observed for the laser-treated group. The birth weights of the donor fetuses were significantly higher in the laser-treated group (median 1750 vs 1145 g, P =.034), and a trend toward higher birth weight was also found for recipient fetuses (median 2000 vs 1560 g, P =.076). CONCLUSIONS: These findings indicate that endoscopic laser coagulation of placental vascular anastomoses offers a more effective alternative to serial amniocenteses as a treatment of severe second-trimester twin-twin transfusion syndrome.

Amniocentesis↗

Perinatal hypophosphatasia: diagnosis and detection of heterozygote carriers within the family.

We report on two families in which one or two children had a severe disorder of skeletal development detected by prenatal ultrasonography. The children died postnatally and showed typical radiological and biochemical findings of perinatal hypophosphatasia. Biochemical analysis revealed a low activity of alkaline phosphatase (AP) and a high value of pyridoxal-5-phosphate (PLP), one of its natural substrates. The screening for mutations of the tissue nonspecific alkaline phosphatase (TNSALP) gene showed homozygosity for a point mutation (G 317 --> D) in the two affected children of the first family. The affected child of the second family was homozygous for a nonsense mutation (R 411 --> X). Family screening revealed that the determination of AP and PLP is helpful for detection of heterozygotes. However, heterozygote children had values of AP in the lower normal range during phases of rapid growth. The determination of PLP proved to be more sensitive in these cases. It should be kept in mind that during the last trimester of gestation there is an increase in maternal AP activity and a normalization of PLP due to placental AP, which is not affected. Therefore, in the course of a prenatal diagnosis in an index case, paternal blood should be analyzed in parallel. For detailed genetic counseling and early prenatal diagnosis in following pregnancies, the possibility of mutation analysis should be used.

Alkaline Phosphatase↗

Intrauterine management of fetal parvovirus B19 infection.

OBJECTIVES: The aim of our study was to determine the outcome of pregnancies after intrauterine management of fetal parvovirus B19 infection. DESIGN: Retrospective study. SUBJECTS: A total of 37 cases of maternofetal parvovirus B19 infection, 35 of which were associated with hydrops fetalis, were referred to our tertiary level center between 1989 and 1996. With regard to fetal hydrops, no apparent cause other than parvovirus B19 infection was found in any patient. METHODS: In all patients, cordocentesis was performed to assess the degree of fetal anemia. When anemia was present, cordocentesis was followed by intrauterine transfusion with packed red cells into the umbilical vein. Further management depended on the degree of fetal anemia and gestational age and included follow-up fetal blood sampling/transfusion as well as ultrasound examinations as deemed appropriate. RESULTS: Packed red cell transfusion was performed in 30 patients with significant fetal anemia (Z-score 1.6-7.8 below the mean for gestational age). The fetal hemoglobin values ranged from 2.1 to 9.6 g/dl. Serum levels of platelets in the transfusion group were 9-228 x 10(9)/l with Z-scores in the range of < 1 to 3.8 below the mean. During treatment and follow-up, there were five intrauterine deaths (13.5%), one neonatal death (2.7%) and 31 live births (83.8%). CONCLUSIONS: Fetal parvovirus infection can lead to marked anemia and hydrops formation. Cordocentesis allows precise assessment of fetal anemia which can then be corrected by intravenous transfusion. Under this regimen, the outcome proved favorable in the majority of fetuses, even those that were severely anemic.

Anemia↗

Fetal lumbar spine volumetry by three-dimensional ultrasound.

OBJECTIVES: To evaluate three-dimensional sonographic volume measurements of the thoracolumbar spine from 16 to 25 weeks of gestation in the normally developing fetus. DESIGN: Prospective cross-sectional study. SUBJECTS: The study included 103 women between 16 and 25 weeks of gestation. They were enrolled at the time of their anomaly scan. None of the pregnancies was associated with structural anomalies and in each case fetal size was deemed appropriate for gestational age. METHODS: Three-dimensional volume calculation of the 1st and 5th lumbar vertebral body, the 12th thoracic vertebral body and the whole lumbar spine was performed, using the perpendicular frontal, sagittal and transverse planes. The lumbar spine length was determined. RESULTS: A statistically significant increase in all measurements was found with advancing gestational age. CONCLUSIONS: Three-dimensional ultrasonography allows volume calculation of the fetal spine. Our study provides preliminary data about volume changes in the developing fetal spine between 16 and 25 weeks' gestation.

Adolescent↗