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Biomedical subjects

L Pijpers

Publications and source records attributed to L Pijpers.

At least 37 records · Page 2Linked to original sources
PubMed1989

Prenatal diagnosis of purine nucleoside phosphorylase deficiency in the first and second trimesters of pregnancy.

Prenatal diagnosis was performed in two successive pregnancies of a mother with a previous child with purine nucleoside phosphorylase (PNP) deficiency. In one pregnancy, an affected fetus was diagnosed in the 18th week of gestation after the demonstration of PNP deficiency in cultured amniotic fluid cells. Also an abnormal purine nucleoside profile was found in the amniotic fluid. The diagnosis of an affected fetus was confirmed by the analysis of cultured fetal skin fibroblasts and placental villi. The complete deficiency of PNP activity in placental villi confirms that the prenatal diagnosis of this disorder is possible by the direct investigation of chorionic villi. In the subsequent pregnancy, a heterozygous fetus was predicted in the tenth week of pregnancy by using chorionic villi.

Adenosine Deaminase↗
PubMed1989

Transabdominal chorionic villus sampling in the second trimester of pregnancy: feto-maternal transfusions in relation to pregnancy outcome.

Volumes of feto-maternal transfusions (FMTs) in transabdominal chorionic villus sampling (TACVS) in the second trimester of pregnancy were calculated from the difference between maternal alpha-fetoprotein (AFP) concentrations before and 1 h after TACVS. In 50 pregnancies, there existed no correlation between FMT volume and the amount of villi collected or the number of TACVS attempts. The expected risk of fetal exsanguination due to very voluminous FMT could not be substantiated. In one case, immunization could have been the cause of hydrops fetalis, although only a volume of 0.15 ml could be calculated.

Adult↗
PubMed1989

Evaluation of transcervical chorionic villus sampling with a completed follow-up of 1550 consecutive pregnancies.

Data from 1,550 consecutive pregnancies after first-trimester prenatal diagnosis by transcervical chorionic villus sampling (TC-CVS) are presented. The sampling efficacy was 97.8 per cent; the mean amount of collected villus tissue was 23 mg (range 5-100 mg). There were 97 affected fetuses, mainly (73.2 per cent) with a chromosomal abnormality or a male karyotype in carriers of X-linked disease. Pregnancy termination in these and four other women for social reasons resulted in 1449 continuing pregnancies. In these pregnancies, the fetal loss rate up to 28 weeks of gestation was 5.1 per cent with the highest loss rate (3.9 per cent) before 16 weeks. When relating this fetal loss rate to maternal age, this was 6.1 per cent in the advanced maternal age group (greater than or equal to 36 years) against 3.1 per cent in the younger age group. In 1,376 pregnancies continuing beyond 28 weeks, the perinatal mortality rate was 1.1 per cent; the percentage of non-genetic congenital anomalies was 0.9 per cent. The reproductive pattern of women at high genetic risk after CVS followed by pregnancy termination was evaluated. Within 12 months after the first CVS followed by pregnancy termination, 70 per cent of women again requested CVS in a subsequent pregnancy.

Abortion, Induced↗
PubMed1989

Noninvasive management of isolated bilateral fetal hydrothorax.

Fetal outcome was studied in eight cases of isolated bilateral fetal hydrothorax. All patients were referred because of polyhydramnios. Spontaneous resolution of pleural effusion was observed twice. No remarkable change in the degree of hydrothorax was demonstrated in the remaining six cases. All eight cases resulted in the birth of a live infant without other abnormalities. Postnatal intubation, which was carried out in all six fetuses with hydrothorax, was always followed by spontaneous respiration. Subsequent thoracocentesis resulted in the collection of 50 to 500 ml of serous fluid. Sustained intubation (7 days) was necessary in only two infants because of developing respiratory distress as a result of prematurity or recurrent pleural fluid accumulation. All eight infants were alive and well at the age of 1 month. Although in the present study noninvasive management of isolated fetal hydrothorax seems to have been justified, a larger multicenter study is needed to compare survival with and without pleuroamniotic shunting.

Adult↗
PubMed1989

Pregnancy in a patient with diffuse cavernous hemangioma of the uterus.

This is the first reported case of successful conservative treatment of a pregnant woman with a diffuse cavernous hemangioma of the uterus. Marked autotransfusion from the hemangioma during labor contractions was clinically apparent and was confirmed by invasive hemodynamic monitoring.

Adult↗
PubMed1989

Selective birth in a dyzygotic twin pregnancy with discordancy for Down's syndrome.

The discovery of a twin pregnancy by ultrasound at the intake procedure for chorionic villus sampling or amniocentesis is not unusual because of the raised incidence of dizygotic twins at increased maternal age. Since the conception of dizygotic twins is genetically a separate and unrelated event, the risk of abnormalities in each twin is independent, but additive. In advanced maternal age, the risk of chromosomal aneuploidy in one of both fetuses varies between 2 and 6% [1]. This case report discusses the early prenatal diagnosis of twins discordant for Down's syndrome.

Abortion, Eugenic↗
PubMed1988

Transabdominal chorionic villus biopsy in second and third trimesters of pregnancy to determine fetal karyotype.

Transabdominal chorionic villus biopsy is an established method of obtaining material for analysing fetal chromosomes in the first trimester of pregnancy but has not been widely used for karyotyping in the second and third trimesters, when rapid results are required. The technique was evaluated in two groups of patients, comprising 106 at risk of having a fetus with chromosomal anomalies (105) or X linked disease (one) studied between 13 and 22 weeks (median 15 weeks) of gestation (group 1) and 21 with abnormal fetal findings on ultrasonography studied between 13 and 38 weeks (median 27 weeks) (group 2). Chorionic tissue was collected at the first attempt in 109 patients and at the second attempt in a further 17 independent of the position of the placenta. In one case from group 1 sufficient material for analysis could not be obtained. Seven abnormal karyotypes (six in group 1 and one in group 2) were diagnosed. Karyotyping was unsuccessful in two cases in group 1 (at 17 and 18 weeks' gestation) and in two in group 2 (at 29 and 38 weeks' gestation). Follow up of group 1 four weeks after sampling showed no signs of adverse fetal development apart from one unexplained intrauterine fetal death. The findings suggest that chorionic sampling is a safe and valuable additional technique for the late detection of chromosomal defects.

Adult↗
PubMed1988

Prenatal diagnosis of chromosome abnormalities in the presence of fetal structural defects.

A chromosomal abnormality was found in 42 (10.9%) out of 386 fetuses with a structural defect. Thirty-five of these were diagnosed prenatally, following ultrasonic detection of one or more structural anomalies and associated pathology such as marked intrauterine growth retardation and polyhydramnios. Termination of pregnancy was carried out in 16 fetuses aged less than 26 weeks, intrauterine and neonatal death occurred in 20 cases, the remaining 6 infants were alive at 3 months. The poor outcome in these pregnancies emphasizes the need for prenatal chromosome analysis in the presence of a fetal structural defect.

Chromosome Aberrations↗
PubMed1988

Impact of first-trimester chromosome, DNA, and metabolic studies on pregnancies at high genetic risk: experience with 1,000 cases.

We describe the results and follow-up of chorionic villus studies in 1,034 pregnancies at risk for chromosome or metabolic disorders. Direct chromosome studies were successful in 99.7% and yielded results within a few days. Fifty pregnancies at risk for an unbalanced translocation, inherited from parents with many small reciprocal translocations, were a good test for the quality of the direct method. The 101 metabolic studies involving 28 disorders were correct in 99 pregnancies in the first trimester. In two cases a correct diagnosis was obtained by the confirmatory amniocentesis. DNA studies were carried out in pregnancies of male fetuses at risk for Duchenne muscular dystrophy and a few metabolic disorders. The abortion rate after chorionic villus sampling was 5.1% but more than half of the pregnant women were greater than or equal to 36 years old and have a spontaneous abortion rate of 10% between the 10th and 14th week according to Gustavii [Lancet 1:562, 1984]. Follow-up studies confirmed results of all chromosome studies after termination when there was fetal cell growth; the outcome of 504 consecutive continuing pregnancies showed no discrepancies of the phenotype after birth. It was concluded that first-trimester chorionic villi studies gave reliable results and were increasingly preferred by the patients, while the sampling can be considered a safe procedure based on the currently available data.

Chorionic Villi↗
PubMed1988

Genetic amniocentesis in twin pregnancies.

Eighty-three patients with twin pregnancies were seen at the University Hospital of Rotterdam between 1 January 1980 and 31 August 1985 for prenatal genetic studies. No abnormal karyotypes were found. Amniotic fluid was successfully obtained from both amniotic sacs in 77 patients. In two pregnancies elevated levels of alpha-fetoprotein (AFP) were found in both sacs. One of these pregnancies was terminated and the other continued until term. One pregnancy miscarried 4 weeks after amniocentesis at 19 weeks gestation; three women were delivered between 23 and 28 weeks, 36 at between 28 and 37 weeks and 42 women after 37 weeks. The perinatal mortality rate was 55/1000 (9 of 164). These results show that genetic amniocentesis is a safe and reliable technique in twin pregnancy but the interpretation of elevated AFP levels is complicated by the fact that AFP diffuses across the amniotic membranes between the two sacs.

Adult↗
PubMed1988

Fetal cystic hygroma: prenatal diagnosis and management.

Seventeen cases of fetal cystic hygroma detected during ultrasound examination are reported. In nine instances, associated abnormalities were recognized, such as fetal hydrops and a two-vessel cord. All diagnoses were confirmed at autopsy. Karyotyping revealed normal findings in six cases, Turner's syndrome in eight cases, and Edwards' syndrome in one case; culture failure occurred in the remaining two cases. An ultrasound diagnosis of cystic hygroma should be followed by a careful search for other anomalies and by fetal karyotyping. Afterward, genetic counseling is indicated.

Cysts↗
PubMed1987

Fetal renal anomalies, a diagnostic dilemma in the presence of intrauterine growth retardation and oligohydramnios.

Measurement of the head-to-abdomen (H/A) ratio for differentiating between symmetrical and asymmetrical IUGR may be difficult in the presence of marked oligohydramnios. A total of 76 cases of IUGR with various degrees of oligohydramnios was studied. Sixteen (59%) out of 27 structural defects represented bilateral renal agenesis, 11 of which were diagnosed prenatally. When only the H/A ratio was measured (n = 29) the sensitivity in picking up a structural defect was 50%. Calculation of the pulsatility index in the umbilical artery and fetal internal carotid artery (n = 47), whether or not combined with amnioinfusion (n = 5), resulted in a sensitivity of 76%. It is suggested that the latter two techniques may provide valuable additional information as to the cause of IUGR.

Amniotic Fluid↗
PubMed1987

Effect of amnioinfusion on the umbilical Doppler flow velocity waveform: a case report.

A case of intrauterine growth retardation with marked oligohydramnios is presented in which, following amnioinfusion of 200 ml of a 5% glucose solution, the diagnosis of bilateral renal agenesis was established. Doppler flow study in the umbilical artery revealed a high resistance flow velocity waveform which became normal following amnioinfusion, suggesting cord compression rather than poor uteroplacental perfusion. Abnormal Doppler flow velocity waveforms in the umbilical artery in the presence of severe oligohydramnios should be interpreted with caution.

Adult↗
PubMed1987

Fetal urinary electrolytes in bladder outlet obstruction.

Ultrasound findings and urinary electrolytes in the fetus were correlated with fetal outcome and postmortem findings in 8 cases of fetal bladder outlet obstructions. One of the two fetuses, suggesting normal renal function according to urinary electrolytes, displayed renal dysplasia at birth. Six fetuses were predicted to have poor renal function, 5 of these were found to have renal dysplasia at autopsy. The interpretation of fetal urinary electrolytes as a prognostic indication for the presence or absence of renal dysplasia needs to be clarified.

Amniotic Fluid↗