Tetrasomy 9p: tissue-limited idic(9p) in a child with mild manifestations and a normal CVS result. Report and review.

Supernumerary isochromosomes resulting in autosomal tetrasomy are rare and have been described only for 12p, 18p, and 9p. Nineteen previous cases of tetrasomy 9p have been reported, and in 6 cases, tissue-specific mosaicism was implied with the i(9p) cell line present exclusively or predominantly in blood. We report on an infant who had apparently normal chromosomes (46,XY) on CVS. He was referred for genetic evaluation because of mild developmental delay and minor anomalies. In 75% of blood cells he had an extra isodicentric 9p chromosome (pter-->q12-->pter). The interpretation of tetrasomy 9p was confirmed by elevated GALT activity. No tetrasomy 9p cells were seen in 100 skin fibroblasts. This case demonstrates the tissue specific mosaicism in tetrasomy 9p which rendered the anomaly undetectable by CVS. It also demonstrates the mild end of the clinical spectrum associated with tetrasomy 9p.

Alterations in maternal-fetal Doppler flow velocity waveforms in preterm labor patients undergoing magnesium sulfate tocolysis.

OBJECTIVE: To evaluate the effects of magnesium on fetal hemodynamics in mothers treated with magnesium sulfate for preterm labor. METHODS: Twenty women who presented to the Carolinas Medical Center in preterm labor between 24-35 weeks' gestation were enrolled in the study. Pulsed-wave Doppler measurements were made from the fetal middle cerebral artery, the fetal umbilical artery, and the maternal uterine arteries before the initiation of magnesium sulfate tocolysis and during its intravenous administration. Baseline measurements were compared with intra-therapy measurements using paired t tests. RESULTS: During the administration of magnesium sulfate, the fetal middle cerebral artery diastolic blood flow velocity decreased significantly (P = .05) and the maternal uterine artery diastolic blood flow velocity increased significantly (P = .01). There were no significant changes in the umbilical artery diastolic blood flow measurements. These findings remained the same after adjusting for gestational age, estimated fetal weight, frequency of contractions, serum magnesium level at the time of the intra-therapy Doppler study, and maternal blood pressure. CONCLUSION: The alterations in fetal hemodynamics during magnesium sulfate administration suggest a physiologic normalization process related to the stressed preterm infant and the preterm labor process itself.

Single-center comparison of results of 1000 prenatal diagnoses with chorionic villus sampling and 1000 diagnoses with amniocentesis.

Large multicenter studies have confirmed the safety and accuracy of chorionic villus sampling as a prenatal genetic diagnostic procedure, but there have been few single-center evaluations. We report our experience with 1000 consecutive chorionic villus sampling procedures compared with 1000 consecutive amniocentesis procedures during the same period. The procedures were performed by the same genetic counselors, sonographers, obstetricians, and laboratory personnel. Indications for referral, demographic characteristics of patients, numbers of attempts per patient, fetal loss rates, laboratory results, and evaluation of accuracy are included. Analysis of all data suggests that chorionic villus sampling is a safe and accurate alternative to amniocentesis in our community-based teaching hospital.

Utilization of amniocentesis and chorionic villus sampling by South Carolina women 35 years of age and older.

An increase in utilization of prenatal diagnosis was observed from 1985 to 1986 in South Carolina. The overall rate of 39.9% for 1986 is comparable with other areas of the U.S. Utilization was correlated with geographic residence, race, and referral source. While there was considerable variation in prenatal diagnostic test utilization between counties in South Carolina, overall utilization rates were reasonably high and continued to increase from 1985 to 1986. It will be interesting to see what effect CVS has on overall utilization rates as this new procedure becomes more established throughout the state.

Analysis of fetal loss after transcervical chorionic villus sampling--a review of 719 patients.

Chorionic villus sampling was performed under real-time ultrasonographic direction on a study group of 719 patients from September 9, 1985, through May 5, 1988. Follow-up of 714 of these patients who would have reached 28 weeks' gestation on September 1, 1988, revealed "an unintended" abortion rate of 4.1% by 20 weeks' gestation. Nine patients had a fetal loss less than 4 weeks after the procedure; 19 had losses up to 12 weeks after the procedure and before 20 weeks' gestation. This study revealed a significantly increased risk of fetal loss with an increase in the number of catheter insertions (p less than 0.001). The risk of fetal loss after one sampling attempt was 3%, 7.8% after two attempts, and 14.3% after three attempts.

Reliability of gynecologic sonographic diagnosis, 1978-1984.

The indications for gynecologic ultrasonography, as well as the reliability of sonographic diagnoses in gynecologic patients, remain controversial. In an effort to evaluate the reliability of the gynecologic sonographic diagnoses rendered at this institution, we analyzed 900 patients available for follow-up. The referral diagnosis was confirmed in 331 patients (36.8%). In 531 patients (59%), sonography established the diagnosis. Thirty-eight (4.2%) of the diagnoses rendered did not reveal the actual status of the patient and were deemed to be "misleading." Twenty-one of the misleading diagnoses involved the attempted diagnosis of pregnancy at less than 5 weeks' menstrual age. Sonography correctly identified 353 of 370 patients with normal pelvic anatomy. Specific clinical settings in which gynecologic sonography could be beneficial are presented.

The results of one thousand consecutive prenatal diagnoses.

From 1976 to 1982, prenatal diagnosis was performed on more than 1,000 patients at the Richland Memorial Hospital. This report analyzes the experience of our unit with the first 1,000 consecutive studies. The integration of geneticist and clinician is stressed. A total of 77.7% of referrals were because of maternal age with the next most common indication being a prior child with a neural tube defect. There were 18 chromosomal abnormalities discovered, and no cases of open neural tube defect were detected. In all cases of elective termination of pregnancy in which follow-up was possible, the diagnosed abnormality was confirmed.

Breech delivery: impact of increasing cesarean section delivery.

We present a retrospective analysis of neonatal outcome and maternal morbidity in the delivery of 192 infants presenting by the breech position, weighing more than 1,000 gm, and exhibiting fetal heart tones upon admission. All of the deliveries occurred between Jan 1, 1975 and Dec 31, 1978. Over the study period the cesarean section rate increased from 35.9% to 73.3%, and maternal morbidity increased from 17.9% to 35.0%. Maternal morbidity in the cesarean section group in 1978 was 41%. Three of the four neonatal deaths were attributed to anomalies group in 1978 was 41%. Three of the four neonatal deaths were attributed to anomalies incompatible with life, and the fourth was due to severe respiratory distress syndrome in a markedly premature infant. Traumatic neonatal morbidity occurred almost exclusively in the vaginally delivered group with only one case of traumatic morbidity in the cesarean section group. Apgar scores of the infants weighing less than 2,500 gm were significantly improved in the cesarean section group (P less than .01), but no significant difference was seen in the five-minute Apgar score in the infants weighing more than 2,500 gm.

Clomiphene-citrate-induced hydatidiform mole.

The reported incidence of molar pregnancies induced by clomiphene citrate is 1:659. Only nine cases, including this one, were found in an extensive search of the literature. Several questions are raised regarding the true incidence of molar pregnancy in clomiphene-induced pregnancies. Evaluation of the induced pregnancy with diagnostic ultrasound is urged.