Fetal choroid plexus cysts revisited--is genetic amniocentesis indicated?
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Transabdominal amniocentesis is described and our experience with this method is presented. No severe maternal complications were recorded. In two cases accidental puncture of fetal blood vessels in pregnancies over 40 weeks led to delivery by cesarean section. We believe that, although fetal complications are rare, the indications for amniocentesis should be significant enough to discount the hazards of the procedure.
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Common indications for amniocentesis are to assess fetal maturity, to determine the prognosis of Rh isoimmunization, for genetic counseling, and occasionally to diagnose fetal distress or to localize the placenta. The percutaneous transabdominal technic is reviewed, and some of the common complications are discussed.
The economic consequences of using an index of maternal age and maternal serum alpha-fetoprotein (MSAFP) screening to indicate risk of Down syndrome (DS) are examined. If DS screening indicated solely by a given maternal age is economically justifiable, then amniocentesis indicated by a DS risk equivalent to that maternal age cutoff, but based on an index of maternal age (for ages below the cutoff) and low MSAFP results, is also economically justifiable. It is concluded that the extant use of MSAFP screening for DS is a move toward the cost-effective use of scarce resources that can be made available with coordinated planning. However, increased professional and public awareness may result in significant increases in aggregate demand for these services. While MSAFP screening for DS is economically justifiable, there exists some potential for bottlenecks at the aggregate level, and these should be considered in conjunction with recommendations that the technology be adopted on a widespread basis.
The factors that influence women in choosing between first-trimester chorionic villi sampling and second-trimester amniocentesis for prenatal diagnosis were investigated. Five hundred twenty women of advanced maternal age who had previously undergone prenatal diagnosis by amniocentesis and were delivered of a normal infant were requested to complete a questionnaire concerning their attitudes toward amniocentesis and chorionic villi sampling. The majority of respondents indicated that the time at which chorionic villi sampling is performed (76%), the rapid availability of diagnostic results (72%), and the type of abortion procedure available (68%) would make them choose this method. In contrast, the factors that influenced women to choose amniocentesis included the known low risk of spontaneous abortion (76%) and confidence in the skill of the obstetrician who would perform the procedure (56%). When all factors were considered together, 68% of the respondents chose amniocentesis based on the known low risk of spontaneous abortion, whereas for those who chose chorionic villi sampling (32%), the major criterion was the fact that the procedure is performed in the first trimester. However, 87% of women who preferred amniocentesis indicated that if the risk of spontaneous abortion associated with chorionic villi sampling. These results indicate that for many women of advanced maternal age, the acceptability and the use of chorionic villi sampling will be dependent on the demonstration that the risk of fetal loss is low, approaching that of amniocentesis.
Between January 1, 1979, and May 30, 1986, 4750 amniocenteses were performed by a single physician at the University of California, Davis, Medical Center. Of these procedures 541 (11.4%) were considered early amniocenteses (performed before the fifteenth week since last menstrual period). The medical records were reviewed for maternal age, amniocentesis indication, ultrasound findings, location of the placenta, location of the needle insertion (transplacental versus nontransplacental), color of the amniotic fluid, results of prenatal testing, complications of procedure, and pregnancy outcome. Complete follow-up data were possible for 308 subjects and obtained for 298 (96.8%). There were 11 miscarriages (3.6%), two stillbirths (0.7%), and one neonatal death (0.3%), resulting in a total postprocedural loss rate of 4.7% (14/298). If those patients with a preamniocentesis history of bleeding are eliminated, the total postprocedural rate of loss is 3.3% (7/211). Miscarriage within 2 weeks of amniocentesis occurred in 1.7% of procedures (5/298). No significant difference in pregnancy outcome was noted between transplacental and nontransplacental amniocentesis.
Between October 1, 1986, and September 30, 1987, 1721 amniocenteses were performed at the University of California, Davis, Medical Center. Of these procedures 527 (30.6%) were early amniocenteses. Medical records were reviewed for maternal age, amniocentesis indication, color of amniotic fluid, gestational age, frequency of needle insertion, complications of amniocentesis and delivery, results of prenatal testing, and pregnancy outcome. Complete follow-up data were available for 517 (98.1%). There were 10 miscarriages before 28 weeks' gestation (1.9%), one loss after 28 weeks (0.2%), and one stillbirth (0.2%), resulting in a total postprocedural loss rate of 2.3%. Miscarriage within 2 weeks of amniocentesis occurred in four subjects (0.8%).
Routine maternal serum alpha-fetoprotein (MSAFP) screening for neural tube defects is considered by many to be standard obstetrical care, and recently many have encouraged this test to screen for Trisomy-21 (Down's syndrome). We questioned whether, after a normal MSAFP screen, the risk of Trisomy-21 decreases enough to warrant modifying the recommended age for genetic amniocentesis for Down's syndrome. A logistic regression was developed which, using reported values for sensitivity and specificity for MSAFP detection of Trisomy-21 and assuming a constant threshold risk in opting for amniocentesis, indicates that genetic amniocentesis for Trisomy-21 may be deferred in some women who have a normal MSAFP screening. Sensitivity analysis of varying thresholds for a normal MSAFP demonstrates that a 37 year old woman with a median MSAFP level has the same risk for Trisomy-21 as an unscreened women who is 4.5 years younger. An abnormal MSAFP is useful in screening for neural tube defects and possibly for Trisomy-21. A normal MSAFP may allow for delaying the potentially risky amniocentesis in otherwise low-risk pregnancies.
Between 1979 and 1984, 2136 midtrimester genetic amniocenteses were performed by a single physician at the University of California (Davis) Medical Center. The medical records were reviewed for maternal age, amniocentesis indication, ultrasound findings, location of placenta, location of the needle insertion (transplacental versus nontransplacental), color of the amniotic fluid, results of prenatal testing, complications of procedure, and pregnancy outcome. Follow-up data were available for 88% of the pregnancies. There were 38 miscarriages (1.9%), 18 stillbirths (0.9%), and four neonatal deaths (0.2%), resulting in a total postprocedural loss rate of 3.1%. Miscarriage within 2 weeks of amniocentesis occurred in only 0.4% of procedures (seven of 1918). No significant difference in pregnancy outcome was noted between transplacental and nontransplacental amniocentesis. Greenish brown discolored amniotic fluid was found in 3.6% of procedures (76 of 2136). In this group there was a 14.5% fetal loss rate with an overall 22.4% adverse outcome.
Human spermatozoa were injected into the perivitelline space of oocytes from 43 couples (44 cycles) in whom fertilization had failed in conventional in-vitro fertilization (IVF). The spermatozoa were treated to enhance the percentage of acrosome-free spermatozoa either by incubation for 24 h in T6 medium with 50% follicular fluid (v/v) or by incubation for 24 h in T6 medium followed by electroporation and incubation for a few hours in T6 medium with 3.5 mM pentoxifylline. After these two procedures, the mean percentage of acrosome-free spermatozoa increased to 35.5 and 53.9% respectively. Up to three spermatozoa were injected into the perivitelline space of metaphase II oocytes; few oocytes were damaged during the injection procedure. The overall fertilization rate was 30.9% of the 433 oocytes that were intact after subzonal insemination. Only 3% of the injected oocytes had more than two pronuclei. The cleavage rate of the fertilized oocytes was 80%. There was no difference in the fertilization and cleavage rates between the two sperm treatment procedures. One, two or three embryos were replaced in 34 cycles and seven patients became pregnant. In three of the four ongoing pregnancies, prenatal diagnosis by amniocentesis indicated a normal karyotype.
The findings in fifty-nine patients with congenital constriction band syndrome and in experiments in which limb malformations resembling those of the human constriction band syndrome were successfully reproduced in rat fetuses by amniocentesis indicated that these malformations arise from excessive contraction of the uterine muscle during pregnancy, with resulting hemorrhages from the marginal blood sinuses of the digital rays. Such malformations in humans may arise during the fifth and sixth weeks counted from ovulation. It therefore was concluded that this syndrome is not hereditary but is produced by prenatal environmental factors.
A 29-year-old pregnant patient, gravida 4, para 3, sought genetic counseling because of a daughter who had Down's syndrome. Amniotic fluid obtained by amniocentesis indicated the fetal karyotype to be 47,XXX. The pregnancy was terminated and the karyotype was confirmed by typing venous blood from the fetus and the finding of double Barr bodies in the histologic sections of fetal tissue.
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Amniocentesis in the 17th week of pregnancy in a 23-year-old woman who had previously lost a child with enzymatically proven Krabbe's disease revealed normal activity in cell-free amniotic fluid. But in two amniotic cell cultures a 25% defect of cerebroside-beta-galactosidase was found. The prenatal diagnosis of Krabbe's disease was subsequently confirmed after abortion of the fetus by enzymatic and morphological examination (globoid cells in the spinal-cord sections).
We have reviewed the family histories of children with neural tube defects to determine which relatives are at sufficient risk to be offered amniocentesis for prenatal diagnosis. The recurrence risks for sibs was 6%; therefore, women with one affected child should be made aware of the availability of this test for monitoring subsequent pregnancies. The empiric recurrence risks for various groups of second and third degree relative exceeds 1% only for mothers' sisters' children. The lower values for the other groups may reflect either true biologic differences of reporting biases. Unit the matter is clarified, all sibs of affected children and all sibs of the parents of affected children should be informed of the availability of amniocentesis for monitoring their (or their spouse's) pregnancies.