The second-trimester fetus with isolated choroid plexus cysts: a meta-analysis of risk of trisomies 18 and 21.

OBJECTIVE: To assess the risk of trisomy 18 and trisomy 21 associated with isolated choroid plexus cysts diagnosed by ultrasound in the second trimester. METHODS OF STUDY SELECTION: We reviewed the unabridged PREMEDLINE and MEDLINE databases for articles written in the English language regarding second-trimester fetal isolated choroid plexus cysts and trisomies 18 and 21, published in the period 1987-1997. Selection criteria included only second-trimester, prospective studies in which the rate of fetal isolated choroid plexus cysts could be calculated, the number of fetuses with trisomy 18 and 21 was reported clearly, and pregnant women of all ages were included, rather than only those at high risk for aneuploidy due to advanced maternal age. TABULATION AND RESULTS: Thirteen prospective studies, comprising 246,545 second-trimester scans, were selected. Among 1346 fetuses with isolated choroid plexus cysts, seven had trisomy 18, and five had trisomy 21. For each study, a 2 x 2 table was constructed and the likelihood ratio of a positive test was computed. The likelihood ratios for trisomies 18 and 21 were found to be homogeneous (P = .08 for trisomy 18, and P = .16 for trisomy 21). The summary likelihood ratio and 95% confidence interval (CI) for each chromosomal abnormality were calculated using the Mantel-Haenszel fixed effects model of meta-analysis. The summary likelihood ratio for trisomy 18 was 13.8 (CI 7.72, 25.14, P < .001) and for trisomy 21 was 1.87 (CI 0.78, 4.46, P = .16). CONCLUSION: The likelihood of trisomy 18 was 13.8 times greater than the a priori risk in fetuses with isolated choroid plexus cysts diagnosed in the second trimester. However, the likelihood of trisomy 21 was not significantly greater than the a priori risk with isolated choroid plexus cysts. The data supported offering pregnant women karyotyping to rule out trisomy 18 when maternal age at delivery is 36 years or older, or when the risk for trisomy 18 detected by serum multiple-marker screen is more than one in 3000.

Isolated fetal pyelectasis: assessment of risk for postnatal uropathy and Down syndrome.

Eight-two consecutive fetuses with ultrasound evidence of isolated pyelectasis (defined as dilation in the antero-posterior renal pelvic dimension of > or = 4 mm) were prospectively followed to determine the risk of postnatal uropathy and Down syndrome. In 98 (60%) kidneys, isolated pyelectasis was shown to be the first manifestation of a pathophysiological process that evolved into a gamut of postnatal uropathies (defined as urological conditions requiring remedial surgery or extended medical surveillance). Data quantifying the risk for postnatal uropathy in fetuses with varying degrees of isolated pyelectasis, at different gestational ages, are presented in figure format to facilitate prenatal counselling. Bivariate analysis showed that the evolution of isolated pyelectasis to uropathy was statistically significant when in utero progression was noted or in conjunction with other findings including contralateral pyelectasis (p < 0.01), male gender (p < 0.01) and increased kidney length (p < 0.001). Importantly, 55% of the infants requiring corrective surgery demonstrated in utero progression of pyelectasis (p < 0.002). Serial ultrasound examinations were necessary to evaluate progression or regression in the extent of pyelectasis. Finally, isolated pyelectasis was associated with an increase risk for Down syndrome, beginning at maternal age of 31 years, in the interval of 16-20 week's gestation.

A prospective study of the association between isolated fetal pyelectasis and chromosomal abnormality.

OBJECTIVE: To determine the incidence of chromosomal abnormalities among fetuses with isolated pyelectasis. METHODS: Between March 1991 and March 1994, 121 cases of isolated fetal pyelectasis were identified at our institution. Pyelectasis was defined as a renal pelvis anteroposterior diameter of at least 4 mm before 33 weeks' gestation, and at least 7 mm at 33 weeks or thereafter. Once identified, women were offered antenatal genetic testing; if they declined, consent was sought for umbilical cord blood studies at delivery. RESULTS: Chromosomal evaluation was available in 99 women. Two chromosomal abnormalities were identified: one trisomy 21 and one mosaic 46, XY/47, XYY. The ages of the women were 32 and 28 years, respectively. Calculation of adjusted risks for Down syndrome and all chromosomal abnormalities indicated a 3.9-fold increase in Down syndrome risk and a 3.3-fold increase in risk for all chromosomal abnormalities in the presence of isolated fetal pyelectasis. CONCLUSION: Isolated fetal pyelectasis is associated with increased risk, over that related to age, for both Down syndrome and all chromosomal abnormalities. These factors may be valuable in counseling individual patients regarding the appropriateness of amniocentesis.

Isolated hyperechoic fetal bowel: significance and implications for management.

OBJECTIVE: The objective of this study was to determine the significance of isolated hyperechoic fetal bowel. STUDY DESIGN: Forty-five cases with prospective, ultrasonographic diagnosis of isolated hyperechoic fetal bowel were reviewed. Fetal variables, including aneuploidy, deoxyribonucleic acid studies for cystic fibrosis, congenital infection, growth retardation, and intrauterine death were reported. RESULTS: Thirty-four of the 45 cases (76%) resulted in live-born infants without detected abnormalities. However, hyperechoic bowel was associated with cystic fibrosis in two cases (4%), congenital infection in two cases (4%), and fetal alcohol syndrome in one case. Termination of pregnancy was elected in three cases and intrauterine fetal death occurred in three cases (7%). Growth retardation was observed in five of 39 (13%) live-born infants. CONCLUSION: Isolated hyperechoic fetal bowel is associated with significant pathologic disorders. Women whose fetuses are diagnosed as having isolated hyperechoic bowel should be offered additional prenatal diagnostic options, including maternal serologic studies for congenital infection, fetal karyotype, and deoxyribonucleic acid testing for cystic fibrosis. In addition, continuing ultrasonographic evaluation of fetal growth and antenatal biophysical assessment should be considered.

A comparison of preoperative ultrasound images of surgically proven endometriomas scanned by both transabdominal and transvaginal techniques.

The echo patterns of endometriomas have been described by both transabdominal and transvaginal scanning. This retrospective study was undertaken to evaluate the degree of internal echogenicity in endometriomas preoperatively scanned by both techniques. Transvaginal ultrasound scanning should be added to the diagnostic armamentarium.

Isolated choroid plexus cyst(s): an indication for amniocentesis.

OBJECTIVE: Our purpose was to prospectively evaluate the risk of chromosomal abnormalities associated with isolated choroid plexus cyst(s) in gravid women undergoing second-trimester ultrasonographic examination. STUDY DESIGN: During a 24-month period 9100 pregnant women underwent midtrimester ultrasonographic evaluation. Women with a fetal diagnosis of choroid plexus cyst(s) were offered amniocentesis and a repeat examination in 4 to 6 weeks. RESULTS: A diagnosis of choroid plexus cyst(s) was made in 102 fetuses (1.1%). In four of these fetuses multiple congenital anomalies were noted. Three of the four fetuses had a chromosomal abnormality, two trisomy 18 and one unbalanced translocation, t(3;13). In the remaining 98 fetuses the choroid plexus cysts were isolated findings, that is, there were no other ultrasonographically detected anomalies. Seventy-five of these 98 fetuses underwent amniocentesis. An abnormal karyotype was identified in four fetuses: three had Down syndrome (two trisomy 21 and one unbalanced translocation, t[14;21]), and one trisomy 18. The offspring of the 23 patients in which amniocentesis was declined were phenotypically normal. CONCLUSIONS: In our prospective study the risk of chromosomal abnormality with isolated choroid plexus cyst(s) was 1:25, a risk that exceeds the 1:200 risk of pregnancy loss after amniocentesis and the 1:126 and 1:260 risk for aneuploidy and Down syndrome, respectively, in a 35-year-old pregnant women during the midtrimester. These findings indicate that amniocentesis should be offered to pregnant women in the presence of isolated fetal choroid plexus cyst(s).

Arteriovenous malformation of the uterus associated with a missed abortion.

Arteriovenous malformation of the uterus is a rare uterine abnormality. This entity is generally associated with the presence of molar disease, choriocarcinoma and uterine surgery, but may be congenitally acquired. The presence of an arteriovenous malformation generally leads to unexplained profuse uterine bleeding. The diagnosis of this entity has traditionally been made by arteriography, and the treatment is usually hysterectomy. We present a patient with an arteriovenous malformation of the uterus whose prior delivery was by Cesarean section. The patient experienced episodes of heavy vaginal bleeding in the first month following the procedure of suction curettage for a first-trimester pregnancy loss. Chorionic villus sampling performed prior to the procedure showed a chromosomally normal fetus. The diagnosis of an arteriovenous malformation was made by color Doppler velocimetry and confirmed with arteriography. The patient desired to maintain her fertility. Interventional radiological techniques were successfully utilized to obliterate the arteriovenous malformation with the use of polyvinyl alcohol particles (250 micro m) and gelfoam. Discussion includes the presenting signs and symptoms along with the method of both diagnosis and conservative management.

Echo patterns of benign cystic teratomas by transvaginal ultrasound.

The transvaginal ultrasound echo patterns of 39 surgically proven cystic teratomas were retrospectively reviewed. Six different ultrasound echo patterns could be differentiated, ranging from purely cystic to densely echogenic. Importantly, in 82% of the tumors, areas of dense echogenicity were noted. Although the transvaginal appearance of cystic teratomas may allow correct preoperative prediction, the variable nature of the echo patterns makes differentiation from malignant tumors difficult.

Caution in antenatal intervention.

We assessed 18 fetuses who harbored a urinary tract malformation that was diagnosed by antenatal sonography. The antenatal diagnosis corresponded to the postnatal diagnosis in 66 per cent of the cases. We review the course of 6 fetuses who had catheters placed percutaneously to drain dilated urinary tracts that were believed to be caused by posterior urethral valves (5) or an obstructed megaureter (1). Only 2 of these fetuses exhibited valves postnatally. No fetus had any recognized benefit from the antenatal intervention. We found that sonography may not readily differentiate fetuses with hydronephrosis with obstruction from those without obstruction. From this experience we conclude that intervention in pregnancies suspected of harboring a fetus with a malformed urinary tract should be done cautiously. Antenatal sonography is useful to identify the fetus with a dilated urinary tract. This identification permits perinatal specialists to be alerted so that preparations for reconstructive surgery in such cases can be made early postpartum.

Fetal pulmonary cyst: intrauterine diagnosis and management.

This case report describes the antenatal diagnosis of a fetal pulmonary anomaly. Early detection afforded detailed parental counseling and prompt neonatal diagnosis and treatment.

Fetal surgery for hydrocephalus: successful in utero ventriculoamniotic shunt for Dandy-Walker syndrome.

The diagnosis of fetal hydrocephalus based on dilation of the ventricular system presents a broad range of management decisions. The options are presented and a case of Dandy-Walker syndrome managed by fetal ventriculoamniotic shunt placement is presented as an example. Under ultrasonic guidance, a shunt was placed at 30 weeks' gestation by later newborn Dubowitz examination. Delivery was delayed for five weeks, one to two weeks following probable shunt malfunction, after achieving fetal lung maturation. Follow-up six months after definitive neonatal ventricular shunting and three weeks after shunt revision revealed a socially active male infant with a motor development index of 87 and a psychomotor development index of 95. Potential advantages of fetal surgery including achievement of term gestation are presented. Proposed guidelines for determining the benefit of such procedures are also presented.

Fetal cranial and craniocervical masses: ultrasound characteristics and differential diagnosis.

Ultrasound is assuming an essential role in the detection of fetal cranial and spinal anomalies. Illustrated in this article is the sonographic appearance of cranial abnormalities wherein the diagnosis of encephalocele is clear cut because the anatomic defect of the neural tube is visualized. Additionally presented is a variety of cranial and craniocervical cystic masses, including meningocele, wherein the anatomic defect of the neural tube is not apparent and the diagnosis is reached by careful attention to the specific ultrasonic characteristics of each mass.

Management of first trimester pregnancy termination failures.

Suction curettage is the procedure of choice for first trimester abortion. The basic preevaluation and follow-up standards for this operation have been adopted by most physicians. In some instances, however, follow-up assessment may be inadequate, particularly regarding the histopathologic evaluation of uterine contents. As a result, recognition of serious conditions such as ectopic pregnancy may be delayed. When a first trimester abortion fails, when scanty tissue is obtained, or when histopathologic examination demonstrates only decidual tissue, an extrauterine pregnancy or pregnancy in an anomalous uterus must be considered. Ultrasonography and endoscopic methods such as laparoscopy and hysteroscopy are invaluable in locating the site of the pregnancy and in preventing serious sequelae. The authors report the outcome of 25 women in whom abortion by suction curettage failed. A protocol outlining the methods used for diagnosis and therapeutic management is presented.

Prenatal diagnosis of harlequin ichthyosis.

We report the successful prenatal diagnosis of ichthyosis in the fetus of a woman whose previous liveborn child was affected with "harlequin ichthyosis". The fetal diagnosis was established through analysis of ultrasonographically guided fetoscopic skin biopsies. These biopsies showed premature hyperkeratosis, most marked around hair follicles and sweat ducts, and forming plugs of hyperkeratotic debris. These observations were in distinct contrast to those in control fetuses, whose epidermis consists of squamous epithelium only a few cells in depth with minimal keratinization.