Prospective study of amniocentesis performed between weeks 9 and 16 of gestation: its feasibility, risks, complications and use in early genetic prenatal diagnosis.

This paper demonstrates that the outcome of amniocenteses performed between the 9th and the 14th weeks is similar to that of amniocenteses performed between the 15th and 20th weeks. We have performed and prospectively followed 615 amniocenteses between the 9th and 16th weeks of gestation. The outcome, risks, and complications are similar to those of amniocenteses at the usual time (after 15 weeks) and to the other groups of early amniocentesis (before 15 weeks). Early amniocentesis differs from amniocentesis at the usual time in that it carries higher rates of fetal losses and of amniotic fluid leakage, more confined cytogenetic abnormalities, and an increased number of patients who have the procedure postponed. Two cultures (0.32%) failed to produce results, 595 (96.7%) samples were obtained at the first tapping, 20 (3.3%) at the second attempt. alpha-Fetoprotein levels reach their maximum at 13 weeks. Amniocenteses between 15 and 16 weeks (293, or 47%) constitute the control group, those between 9 and 14 weeks (322) the experimental group. Early amniocentesis appears to be a safe early genetic prenatal diagnosis technique, an alternative to chorionic villi sampling.

The prenatal growth of the human body determined by the measurement of bones and organs by ultrasonography.

This paper presents the ultrasonographic analysis of the growth of two groups of human fetuses, one longitudinal and the other cross-sectional. Measurements of all the long bones were taken, as well as measurements of the following diameters: Biparietal, occipitofrontal, thoracic and abdominal anterior/posterior and transverse, spinal canal width, arm, forearm, thigh and leg transverse. The bladder and the stomach were also measured. The pregnancies analyzed covered the period between the 8th and 38th week of gestation. Centiles (3rd-97th) were calculated for each structure and week. All pregnancies known or suspected to be abnormal were removed from the study. The values obtained were tested in 102 pregnancies (test group); the expected values (from the graphs) did not deviate from the values obtained from this group of fetuses, demonstrating the reliability of the values presented in these graphs. All structures measured showed linear growth. There was no significant difference between the longitudinal and cross-sectional groups.

Determination of cholinesterase and acetylcholinesterase in amniotic fluid. Uses in prenatal diagnosis and quality control.

The determination of acetylcholinesterase (AChE) has been shown to be as specific as alphafetoprotein (AFP) for the prenatal detection of open neural tube defects although AFP remains the method of choice. This paper describes a semi-automated technique for the analysis of acetylcholinesterase in amniotic fluid that: A) reduces the cost of the procedure; B) allows for a larger number of samples to be run at a time; and C) provides for more accurate and reproducible procedures and results. Six fetuses with neural tube defects (2 with gastroschisis and 3 where one twin was dead) were detected and found to have elevated AChE, TChE and 2 bands by electrophoresis. Quality control procedures using both pure enzyme and amniotic fluid with low and high levels of the enzyme are described. The analysis of 340 amniotic fluids of normal pregnancies indicates that the normal value for AChE is 5.17 +/- 2.63 mU/ml (97% confidence interval for the mean 4.84-5.49 mU/ml. A group of 27 abnormal pregnancies provides evidence that fetal vomiting and regurgitation, fetal demise, multiple cysts syndrome, idiopathic IUGR, arthrogryposis multiplex, hydrocephaly (stenosis of aqueductus), trisomy 21, trisomy 18, hydronephrosis, pyloric stenosis, heart malformation, ectopia cordis and multiple gestation produce elevated levels of pseudocholinesterase (PChE) in amniotic fluid. The use of pseudocholinesterase levels in amniotic fluid for prenatal diagnosis is proposed and discussed in view of its elevated levels in abnormal pregnancies where AChE is normal. The normal values for PChE are 23.86 mU/ml (mean) and 5.83 for standard deviation. Electrophoretic analysis was performed on all samples with values higher than one standard deviation above the mean.(ABSTRACT TRUNCATED AT 250 WORDS)

Visualization of the fetal genitalia by ultrasonography: a review of the literature and analysis of its accuracy and ethical implications.

The results of the ultrasonographic determination of fetal gender in utero in 722 fetuses (13-35 weeks' gestation) are described, demonstrating that fetal genitalia can be seen in 60.5 per cent of those examined before the eighteenth week, and in 100 per cent of those examined twice or once after 20 weeks of gestation. All errors (3.04 per cent) of gender assignment occurred before the twenty-fourth week. When the fetus was examined for the first time at 17 weeks, the genitalia were visualized and correctly diagnosed in 282 males and 155 females; nine males and 13 females were incorrectly diagnosed. Ultrasonographic determination of fetal gender in utero is an integral part of the prenatal diagnosis of sex maldefinition, testicular feminization, and campomelic dysplasia. It has proved to be a reliable marker in determining whether each sac has been sampled in multiple pregnancies (when each fetus is in a different sac) if ultrasonographically assigned sex per twin corresponds to its karyotype. The determination of fetal gender in utero by ultrasonography allows for gender selection; some of its ethical implications are considered.

Thanatophoric dysplasia: fetal manifestations and prenatal diagnosis.

This paper describes two fetuses with thanatophoric dysplasia (TD) diagnosed in utero by ultrasonography. The fetuses were found to have severely short (less than 3rd centile), mildly bowed bones in one of them at 20 weeks and straight bones in the other at 34 weeks; bell-shaped chest; abnormal ribs (broadened and flattened at their ends); severe lung hypoplasia; hypoplastic, round-shaped vertebral bodies with hypoplastic arches; abnormally small pelvic bones, phalanges, metacarpals, and metatarsals. There was also an incipient "cloverleaf" skull deformity produced by fused posterior sagittal and lambdoidal sutures in the 20-week fetus and a definitive cloverleaf skull with communicating hydrocephaly in the 34-week fetus. The autopsies did not show any other abnormality. By xeroradiography after delivery, marked abnormalities of the endochondral and perichondral bone structures could be demonstrated in the 20-week fetus but not in the 34-week fetus. They appear to constitute two different conditions. These cases are good examples of the possibilities brought by ultrasound to the analysis of the fetal phenotype in utero.

Prenatal diagnosis of Jeune syndrome.

We describe two sibs affected with Jeune syndrome. The first was diagnosed after birth and the second was diagnosed prenatally using ultrasonography. The detected abnormalities were confirmed by X-ray and autopsy following pregnancy termination. This observation indicates the possibility of prenatal diagnosis of the condition.

Prenatal diagnosis of Weyers syndrome (deficient ulnar and fibular rays with bilateral hydronephrosis).

A fetus with Weyers oligodactyly was studied after a previous sibling had been born with that condition. Prenatal diagnosis was undertaken using ultrasound to visualize the long bones, which were found to be severely affected by the condition at 19 weeks of gestation. Most notable were the ulnae and fibulae, which were very short; the fetus had bilateral hydronephrosis.

Visualization of the fetal spine: a proposal of a standard system to increase reliability.

We describe a method for the morphological, developmental, and functional analysis of the fetal spine. Using this system, different types of spina bifida and hemivertebrae have been discovered. A system of quality control and documentation is proposed and cases that were not detected ultrasonographically are described. The results of the analyses of seven abnormal fetuses out of 818 pregnancies examined by us and three referred after birth are presented, including fetuses with caudal regression, spina bifida, hemivertebrae with lordosis and kyphosis, and spina bifida without ultrasonographic or radiologic evidence of bone abnormality. Cases that were not diagnosed ultrasonographically by other observers are presented.

Nuchal cysts syndromes: etiology, pathogenesis, and prenatal diagnosis.

We examined 10 fetuses with nuchal cysts and compared the findings with 32 cases from the literature. Based on their characteristics, we propose that nuchal cysts are signs of four causally and pathogenetically different entities: cystic nuchal blebs present in otherwise normal fetuses as a postmortem change; 45,X fetuses who have a particular appearance and multiple congenital malformations; an apparently autosomal recessive syndrome of multiple cysts (that extend into deep muscular planes), generalized edema, cleft palate, peculiar skeletal characteristics, acutely angulated ribs (producing a bell-shaped rib cage), and shortened long bones; and in fetuses with syndromes that are inherited (multiple pterygium, Roberts) and chromosomal (trisomy 13, trisomy 21) as an unspecific sign representing both primary and secondary lesions.

Ultrasonographic visualization of the fetal eye.

This paper describes the analysis of the fetal eye in utero using ultrasonography. Such analysis has allowed the diagnosis of two cases of cyclopia and one case of microphthalmia. Two of the three pregnancies of a woman affected by autosomal dominant aniridia were found to be normal at 17 weeks of gestation and at birth; her oldest daughter was affected. The motility of the eyes was also noted when the fetus was examined. No movement or rapid and slow movements are seen more frequently as the fetus progresses through pregnancy. The centiles for the intermalar and interethmoidal distances are described for fetuses between weeks 10 and 40 of gestation. This system should be used with caution because of the difficulties in interpreting views of the fetal eye.

Manifestations of pseudoxanthoma elasticum during pregnancy: a case report and review of the literature.

A 30-year-old white woman with pseudoxanthoma elasticum (PXE) was followed throughout her pregnancy with several fetal ultrasonographic examinations and other diagnostic studies; these showed normal development up to the 26th wk and then a marked deceleration of fetal growth. The ultrasonographic appearance of the placenta was abnormal at all times probably related to the microscopic changes. The baby, born at 36 wk, showed severe intrauterine growth retardation as a probable consequence of the abnormal placenta detected by ultrasound and corroborated at birth. The cotyledons were small and more numerous than normal. One third of the placenta was hypoplastic or atrophic, with focal calcification in septa, stroma, villi, and decidua, and increased deposition of fibrin around villi. The most striking change was the increased number of septa and the abnormal elastic tissue.

Tandem dup (1p) within the short arm of chromosome 1 in a child with ambiguous genitalia and multiple congenital anomalies.

A newborn infant was found to have multiple congenital anomalies including bilateral cleft of lip and palate, intrauterine growth retardation, microcephaly, tetralogy of Fallot, ambiguous external genitalia, and presence of male and female internal genitalia. Chromosome analysis showed a tandem duplication of part of the short arm of chromosome 1, resulting in a dup(1p31----35). The karyotype designation is 46,XY,dir dup(pter----31::p35----p31::p31----qter). The exact nature of the chromosome anomaly was clarified with use of several banding methods.

Visualization of the fetal face by ultrasound.

A technique for detailed examination of the fetal face by ultrasound in utero is described. It is based on the systematic visualization of the facial structures in four planes--sagittal, coronal, transverse, and oblique--and on the detailed view of other facial structures. Its use has allowed the identification of normal facies in many of the 800 cases included in this study and also the identification of the abnormal facial characteristics of triploidy, cyclopia, anencephaly, Seckel syndrome, trisomy 18, and nuchal cysts syndrome.

Ureteral ejaculation of urine visualized by ultrasound.

This article describes an ultrasonographic noninvasive method for the visualization of the ureteral ejaculation of urine into the bladder and its use in 99 normal women and in one affected by a previously unsuspected bilateral hydronephrosis and hydroureter.