Trisomy 13 or 18 (mosaicism) in first trimester cytotrophoblast cells: false-positive results in 11 out of 51 cases.

Objective: The finding of full or mosaic trisomy 13 or 18 in first trimester chorionic villus sampling (CVS) may be a false-positive result. This report provides incidence and outcome information that may be helpful in counselling individual patients and in choosing adequate follow-up.

Study Design: From a series of 6820 CVS cases, we retrospectively collected data on all patients (n=51) with full (n=30) or mosaic (n=5) trisomy 18, and full (n=13) or mosaic (n=3) trisomy 13 in cytotrophoblast cells.

Prenatal HLA-matching to determine suitability for allogeneic bone marrow transplantation.

For several haematological malignancies, allogeneic stem cell transplantation is the treatment of choice. In most cases an HLA-identical sibling is required. If the mother of a patient is pregnant, cord blood from a related donor, which can be used for stem cell transplantation, might be obtainable in the near future.

The outcome of pregnancies with confined placental chromosome mosaicism in cytotrophoblast cells.

Cytogenetic findings and outcome of pregnancy are reported in 108 cases in which confined placental mosaicism (CPM, n = 101) or generalized mosaicism (n = 7) was found at or after first-trimester chorionic villus sampling. In all samples, a (semi)direct cytogenetic analysis of cytotrophoblast cells was performed. Two pregnancies with CPM ended in a spontaneous abortion before 28 weeks (1.

Parental imprinting of human chromosome region 11p15.3-pter involved in the Beckwith-Wiedemann syndrome and various human neoplasia.

Cytogenetic and DNA analyses of patients with the Beckwith-Wiedemann syndrome (BWS) enabled us to refine the localization of the syndrome at 11p15.3-pter to two distinct regions. One chromosome region (BWSCR1) is near the insulin (INS) and insulin-like growth factor 2 (IGF2) genes.

An evaluation of 75 terminations of pregnancy based on abnormal laboratory findings at first trimester CVS.

Seventy-five selective terminations, based on abnormal laboratory findings at first-trimester CVS, were performed in 1581 consecutive pregnancies. In all cases a (semi-) direct method of cytogenetic analysis was used. The 75 abortions were analysed in number of ways.

Cytogenetic findings in 1250 chorionic villus samples obtained in the first trimester with clinical follow-up of the first 1000 pregnancies.

First-trimester chorionic villus sampling (CVS) was performed in a series of 1250 pregnancies. The direct method of karyotyping was successful in 1205 (96.4%).

Amyotrophy of the hands and pyramidal features of predominantly the legs segregating within one large family.

Eleven patients of one kindred are described with amyotrophy of the hands or pyramidal features of predominantly the legs or both. Clinical examination indicated neuronal origin of wasting and weakness of the hands, whereas electrophysiological investigations suggested motor neuropathy. It is suggested that both lower and motor neuron signs are segregating as independent autosomal dominant traits.

Chorionic villi sampling: cytogenetic and clinical findings in 500 pregnancies.

The cytogenetic findings were analysed in a series of 500 pregnancies in which chorionic villi sampling was performed. In all cases a direct method was used, karyotyping being successful in 481 cases (96.2%).

Human alpha-globin maps to pter-p13.3 in chromosome 16 distal to PGP.

Fibroblasts from a fetus with an unbalanced karyotype 46(XY), -16,+(16qter-16p13.3::4q31.1-4qter) were found to possess only one allele at the 3' hypervariable region (3'HVR) close to the alpha-globin locus and two alleles at the PGP locus.

Karyotypic differences between cells from placenta and other fetal tissues.

Six cases are reported with discrepancies between the karyotypes of placental cells and cells from other fetal tissue. The respective findings were: 48, + 7, + 18 resp. 47, + 18.

Risks of midtrimester amniocentesis; assessment in 3000 pregnancies.

The obstetric outcome of 3000 pregnancies with midtrimester amniocentesis was followed in all but one patient. Thirty pregnancies ended in fetal death or abortion within 3 weeks after amniocentesis. Chronologically 23 of these occurred in the first series of 1500 pregnancies and the remaining seven fetal deaths/abortions within 3 weeks after amniocentesis occurred in the second series of 1500 pregnancies.

A critical analysis of 75 therapeutic abortions.

An analysis is presented of the first 75 therapeutic abortions based on the results of laboratory investigations on midtrimester amniotic samples from 2816 pregnancies. The reasons for the abortions were: chromosome aberration (n = 36), male fetus at risk for X-linked disorder (n = 23), neural tube defect (n = 14), and metabolic disorders (n = 2). An estimation was made of the life expectancy of these 75 fetuses if no termination of pregnancy had taken place.

Familial occurrence of azoospermia and extreme oligozoospermia.

To determine the familial incidence of azoospermia and extreme oligozoospermia (AEO; sperm counts less than 3.10(6)/ml) 147 men with primary AEO were asked, by means of mailed questionnaires, for the occurrence of infertility among their brothers. 119 questionnaires were completed (81%).

Women's experiences with second trimester prenatal diagnosis.

By means of questionnaires, 100 women were asked for their experiences concerning prenatal diagnosis. At four standardized stages of the pregnancy a questionnaire was filled in asking for: expectation, knowledge, attitude towards termination of the pregnancy in case of abnormal findings, reactions to the counselling and the obstetric treatment, interpretation of own risk, experiences since the normal test results were known and ideas to improve the treatment. With regard to the effect of pre-amniocentesis counseling it is concluded that the counselling had little impact on decision making; the counselling caused an increase of factual knowledge: somewhat more than half of the women who did not give a correct answer before counselling, indicated the right answer some time afterwards.

Risk of amniocentesis and laboratory findings in a series of 1500 prenatal diagnoses.

The experiences with 1500 midtrimester prenatal diagnoses are reported. Abnormal findings of amniotic fluid investigations led to 43 therapeutic abortions. In +/- 30 per cent of the chromosome anomalies diagnosed, the significance of the effect on fetal development was inconclusive.

Severe congenital skin defects in a newborn. Case report and relevance of several obstetrical parameters.

The clinical, laboratory, histologic and autopsy findings are reported from a live-born male infant with severe congenital skin defects (CSD) who survived for 2 days. The family history revealed consanguinity of the (Turkish) parents. The patient was compared with 10 cases from the literature with the most severe form of CSD.

Five familial cases with a trisomy 16p syndrome due to translocation.

A clinical description is given of a syndrome present in three postnatally and two prenatally detected cases with partial trisomy 16p, caused by a familial translocation t(16;21) (p11;q22). The most consistent features of this syndrome are: low birth weight, small head circumference, low-set ears, palato(gnatho)schisis, micrognathia, thumb-agenesis or hypoplasia, hypertonia, overlapping fingers, single umbilical artery, and psychomotor retardation. The clinical picture was identical to that described by Roberts & Duckett (1978) for a single case.