Fetal loss rate after chorionic villus sampling and subsequent amniocentesis.

Here we review a group of 82 patients who underwent both chorionic villus sampling (CVS) and amniocentesis in the same pregnancy during the period May 1984-May 1988. A fetal loss rate of 2.5% is documented.

Ratios between growth parameters for the prenatal ultrasonographic diagnosis of skeletal dysplasias.

The clinical applicability and usefulness of nine ratios that express the relation between particular fetal growth parameters were tested in ten fetuses affected by skeletal dysplasia. The results were compared with the ratios calculated from five growth-retarded fetuses without structural anomalies. Femur/foot, femur/head circumference, head circumference/thoracic circumference and abdominal circumference/thoracic circumference ratios are useful additional parameters for the prenatal ultrasonographic diagnosis of skeletal dysplasias.

Prenatal diagnosis by ultrasound in pregnancies at risk for autosomal recessive polycystic kidney disease.

In 15 pregnancies at risk of the autosomal recessive type of polycystic kidney disease (ARPKD), there were six recurrences (40%), five of which were diagnosed prenatally between 17 and 26 weeks (mean, 22 weeks). In the remaining affected case, normal kidney size and echogenicity were still present at 30 weeks of gestation. Fetal kidney enlargement and increased echogenicity are the key ultrasonographic signs for the detection of ARPKD.

Uterine bloodflow velocity waveforms before and after transcervical chorionic villus sampling.

Flow velocity waveforms from the left and right uterine artery were studied relative to transcervical chorionic villus sampling (CVS) between 9 and 11 weeks of gestation in 12 uncomplicated pregnancies and 5 pregnancies resulting in second trimester fetal loss. There was no significant difference in mean pulsatility index (PI) as a measure of downstream impedance, between the left and right uterine artery. There were also no significant changes in PI relative to the CVS procedure both in uncomplicated pregnancies and in pregnancies ending in second trimester fetal loss.

Trisomy 21 mosaicism in gonads with unexpectedly high recurrence risks.

The recurrence risk for Down syndrome (DS) is about 1% in case of a previous offspring with trisomy 21 and minimal in case of a de novo (21;21) translocation. We have monitored 1,211 pregnancies in the first and second trimester after a prior occurrence of trisomy 21. Six couples had a trisomy 21 fetus in a subsequent pregnancy.

Uterine and ovarian flow velocity waveforms in the normal menstrual cycle: a transvaginal Doppler study.

A combined transvaginal 2D real-time and pulsed Doppler method was used for recording flow velocity waveforms in the uterine and ovarian arteries from 16 healthy women during the follicular and luteal phase of the normal menstrual cycle. Continuous forward end-diastolic flow velocities were documented in 74% of the ovarian artery and 96.5% of the uterine artery flow velocity waveforms.

Fetal cardiac and peripheral arterial flow velocity waveforms in intrauterine growth retardation.

Maximum flow velocity waveforms were studied at the cardiac level (ascending aorta, pulmonary artery, and ductus arteriosus) and at the peripheral level (fetal internal carotid artery, descending aorta, umbilical artery, and maternal uteroplacental artery) in 25 patients with intrauterine growth retardation and 25 normal control subjects matched for gestational age and maternal parity. Gestational age ranged from 27 to 35 weeks (median, 30 weeks). All flow velocity waveforms were obtained with a mechanical sector scanner combined with a pulsed and continuous Doppler system with a carrier frequency of 3.

Trisomy 18 in monozygotic twins.

We report a very rare case of a pair of monozygotic twins with trisomy 18 discordant for major anomalies. Our case contributes to published data on the role of nongenetic factors in the etiology of discordance of congenital malformations in genotypically identical twins. We stress the importance of accurate ultrasonic examination in reducing the number of caesarean sections to deliver trisomy 18 infants.

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).

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.

Cardiac and extra-cardiac anomalies as indicators for trisomies 13 and 18: a prenatal ultrasound study.

The purpose of the present study was to establish sonographic markers for prenatal diagnosis of trisomies 13 and 18. Retrospective analysis of sonographic morphology was therefore carried out in seven fetuses with trisomy 13, and 16 fetuses with trisomy 18. Gestational age ranged between 17 and 39 weeks (median 28 weeks).

Cerebral Doppler ultrasound of the human fetus.

Maximal flow velocity waveforms were recorded in the internal carotid artery (ICA), middle cerebral artery (MCA), posterior cerebral artery (PCA) and anterior cerebral artery (ACA) in 55 normal pregnancies and 14 complicated by intrauterine growth retardation between 25 and 41 weeks gestation. In normal pregnancy, acceptable flow velocity waveforms were obtained in the ICA in 89%, in the MCA in 91%, in the PCA in 58% and in the ACA in 64%. A decrease in pulsatility was observed in all four intracranial arteries during the latter weeks of gestation.

Prenatal diagnosis of cystic kidney disease with ventriculomegaly: a report of six cases in two related sibships.

In 2 consanguineous relationships, a Cape Verdian man fathered six fetuses (5 male) with fetal ventriculomegaly and echodense fetal kidneys as visualized by ultrasonography between 16 and 32 weeks. During prenatal monitoring, an increased alpha fetoprotein level and abnormal acetylcholinesterase were detected at amniocentesis in 5 of 6 affected fetuses. Chromosomes were normal.

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.

Flow velocity waveforms in the fetal internal carotid artery relative to fetal blood gas and acid-base measurements in normal pregnancy.

Flow velocity waveforms in the fetal internal carotid artery during fetal behavioural state 2F were compared with blood gas and acid-base data from fetal scalp blood samples immediately following artificial rupture of the membranes in 17 normal term pregnancies. The pulsatility index in the fetal internal carotid artery was positively related to PO2 and base excess suggesting that also under physiological conditions fetal cerebral vascular resistance may respond to changes in fetal oxygenation.

Vibratory acoustic stimulation and the flow velocity waveform in the fetal internal carotid artery.

Eleven healthy fetuses between 36 and 39 weeks of gestation were studied during the active sleep state to examine effects of a 5-s vibratory acoustic stimulus on the baseline fetal heart rate and flow velocity waveform in the fetal internal carotid artery. There was an immediate marked rise in baseline fetal heart rate with concomitant drop in pulsatility index in the flow velocity waveform of the fetal internal carotid artery, which persisted for at least 15 min after the stimulus. However, when the pulsatility index was standardized for a fetal heart rate of 140 beats/min this index remained virtually unaltered.

Human fetal ductal flow velocity waveforms relative to behavioral states in normal term pregnancy.

In 16 normal pregnancies the relationship between the blood flow velocity waveform and fetal behavioral states at 37 to 38 weeks' gestation was studied. Whereas behavioral state independency was established for the acceleration time, peak flow velocity demonstrated a statistically significant reduction during active sleep, compared with quiet sleep. These data reflect reduced ductal flow and suggest a redistribution in the left-ventricular and right-ventricular output in favor of the left side of the heart during active sleep.

Diagnostic ultrasound equipment. Safety and dosimetry.

A survey of present opinions on the safety of diagnostic ultrasound applications is presented together with some data on output levels. Physical mechanisms involved in potential adverse effects are described. Labelling requirements of the equipment are defined and specified.

Rhesus sensitization after midtrimester genetic amniocentesis.

In 944 Rh-negative patients who received rhesus immunoglobulin (anti-D) following genetic amniocentesis, not a single case of Rh sensitization occurred. Routine administration of a small dose (100 micrograms) of anti-D is effective in preventing Rh sensitization after midtrimester amniocentesis.

Detection of fetal structural malformations by ultrasound in insulin-dependent pregnant women.

A total of 136 insulin-dependent pregnancies was referred to our ultrasound unit for an anomaly scan. In 94 cases the scan was requested between 17 and 22 weeks of gestation (median 20 weeks), in the remaining 42 cases the patient was not referred until after 24 weeks (median 27 weeks), which is too late for termination of pregnancy to be exercised. From the available data, optimal metabolic control was attempted in at least 80% of cases between 4-8 weeks after conception.