ABSTRACT
A retrospective study was performed to determine the detection rate of trisomy 21 in two British hospitals using a combination of: (1) second trimester serum screening with maternal age, alphaFP and hCG; (2) karyotyping for raised maternal age and high background risk of aneuploidy; and (3) second trimester fetal anomaly ultrasonography at 18-22 week gestation. 36-410 women with a median age of 27 years were studied. Trisomy 21 detected by the combination of methods in both hospitals was compared with the actual number of pregnancies affected by trisomy 21, to determine the detection rate. Serum screening as the backbone of the service detected 31/48 (65%) trisomy 21 affected pregnancies. Karyotyping for maternal age and previous aneuploidy detected eight trisomy 21 affected pregnancies, and second trimester ultrasound a further six, giving a total detection rate of 45/56 (80%). Thus, the detection rate of trisomy 21 in our population is 65% by serum screening alone. This is similar to demonstration projects, but the addition of second trimester ultrasonography and karyotyping for maternal age and prior risk, contributes further to improve the overall sensitivity to 80%. The invasive procedure rate was 4.8% of all women.
Subject(s)
Down Syndrome/diagnosis , Prenatal Diagnosis/methods , Adult , Aneuploidy , Chorionic Gonadotropin/blood , Down Syndrome/genetics , Female , Gestational Age , Humans , Karyotyping , Pregnancy , Retrospective Studies , Risk Factors , Sensitivity and Specificity , Ultrasonography, Prenatal , United Kingdom , alpha-Fetoproteins/analysisABSTRACT
Partial hydatidiform mole associated with live births is a rare condition. There are not enough cases in the literature to allow the assessment of comprehensive risks to be made and upon which management policies can be based. Several clinical dilemmas arise following diagnosis of a viable pregnancy associated with molar tissue. We present two cases demonstrating the problems and suggest management based on outcome and a review of the literature.
Subject(s)
Hydatidiform Mole/complications , Hypertension/complications , Pregnancy Complications, Neoplastic , Uterine Neoplasms/complications , Adult , Female , Humans , Hydatidiform Mole/pathology , Karyotyping , Male , Placenta/pathology , Pregnancy , Twins , Uterine Neoplasms/pathologyABSTRACT
We describe further development of the fumarylacetoacetase (FAA) assay for the prenatal diagnosis of tyrosinaemia type 1 using chorionic villus sampling (CVS). We have established a reference range for FAA activity in cultured villus cells and have confirmed previously reported data on the FAA activity in uncultured chorionic villus cells. This should allow confirmation of results using CVS, without the need for further invasive procedures. We report the FAA enzyme stability at -70 degrees C, +4 degrees C, and at room temperature, and we have shown no obvious difference in enzyme activity with gestational age. We have analysed cultured and non-cultured CVS activity of FAA in two pregnancies at risk of tyrosinaemia type 1. In both, the fetus was designated unaffected, and these results were confirmed postnatally.
Subject(s)
Chorionic Villi/metabolism , Hydrolases/metabolism , Tyrosine/deficiency , Cells, Cultured , Female , Gestational Age , Humans , Hydrolases/chemistry , Placenta/metabolism , Pregnancy , Prenatal DiagnosisSubject(s)
Down Syndrome/diagnosis , Fetal Diseases/diagnosis , Prenatal Diagnosis , Adult , Female , Humans , Mass Screening , Maternal Age , Pregnancy , Pregnancy, High-RiskABSTRACT
Twenty-nine cases of spontaneous abortion following first-trimester chorionic villus sampling (CVS) were reviewed out of a series of 722 patients. Of the 29 cases, there were only four abnormal CVS results. Pathological examination was performed in 79 per cent of cases, and this did not identify any characteristic pathological feature associated with spontaneous abortion after CVS. There was no obvious difference in the pathological features following the transabdominal (TA) or the transcervical (TC) methods. The majority of miscarriages occurred within 4 weeks of the procedure, but 38 per cent of cases aborted between 7 and 14 weeks after CVS. The TC method was used in 22 patients; the TA in 6; and both methods in 1 patient. The TA method was associated with a significantly lower fetal loss rate than the TC method (TA 2 per cent, TC 9 per cent, p less than 0.001).
Subject(s)
Abortion, Spontaneous/etiology , Chorionic Villi Sampling/adverse effects , Fetus/pathology , Adult , Chorioamnionitis/etiology , Female , Humans , Maternal Age , Placenta/pathology , Pregnancy , Pregnancy, High-Risk , Retrospective Studies , Time FactorsSubject(s)
Autoantibodies/analysis , Blood Platelets/immunology , Lupus Nephritis/immunology , Pregnancy Complications/immunology , Adult , Biomarkers/blood , Female , Fetal Death/immunology , Humans , Immunization, Passive , Lupus Erythematosus, Systemic/immunology , Pregnancy , Thrombocytopenia/immunology , Thrombocytopenia/therapyABSTRACT
The attitudes of 190 patients who had undergone chorionic villus sampling (CVS) were assessed by means of a questionnaire. One hundred and fifty-two patients replied of whom 68 (45 per cent) were referred because of increased maternal age and in the other 84 cases the indications included previous chromosomal abnormalities, fetal sexing, DNA analysis, and biochemical analysis. One hundred and twenty-two patients had a transcervical procedure, 24 had a transabdominal, and six patients required both procedures. One hundred and forty-one patients (93 per cent) reported CVS to be a satisfactory procedure, and the same percentage thought earlier diagnosis was beneficial. Thirty-nine patients (81 per cent) reported a better experience with CVS than with a previous amniocentesis. A majority of patients (93 per cent) wished a CVS in a future pregnancy and 137 patients (97 per cent) would accept a risk of miscarriage from the procedure of twice that quoted for amniocentesis (1 per cent).
